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Arch Argent Pediatr 2013;111(6):484-494 / 484
RENAC: National Registry of Congenital
Anomalies in Argentina
Boris Groisman, M.D.,a María Paz Bidondo, M.D.,a Pablo Barbero, M.D.,a
Juan A. Gili, B.S.,b Rosa Liascovich, M.D.,a and RENAC Task Forcec
ABSTRACT
Introduction.The National Registry of Congenital
Anomalies (Registro Nacional de Anomalías
Congénitas, RENAC) is a hospital-based
surveillance system for newborn infants with
major morphological congenital anomalies
(CAs). The objective of this study was to describe
the characteristics and operation of the RENAC
registry and the prevalence at birth of 56 specific
selected CAs, compared to other registries.
Population and Methods.The organization of the
RENAC registry was initiated in public hospitals
with 1000 or more births per year or which are
the referral hospitals in a determined health
region. Neonatologists are in charge of data
collection, and a central coordination department
is in charge of encoding, statistical analyses and
regular reports.
The RENAC registry uses an online forum for
data submission and for guidance and interaction
regarding the initial management of cases.
Results. Between November 1st, 2009 and June
30th, 2012, 98 hospitals were included in the
registry, the annual coverage of these hospitals
is 65% in the public sector and 35% of births in
Argentina. In this period, 294 005 newborn infants
were examined, and 5165 cases with major CAs
were detected (1.76%; 95% CI: 1.71-1.80). The
most frequent CAs were septal heart defects
(prevalence per 10 000: 28.6), Down’s syndrome
(prevalence per 10 000: 19.2), cleft lip +/- palate
(prevalence per 10 000: 12), and a set of neural
tube defects (prevalence per 10 000: 11.9).
Conclusions.The RENAC has reached a high
coverage in the public sector and the differences
in prevalence with other registries can be related
to operational aspects or actual differences,
depending on the case. The RENAC deals with
the collection, analysis and dissemination of
information about CAs in Argentina, and also
contributes with local interventions.
Key words: Argentina, congenital anomalies,
information systems, registries, health surveillance.
http://dx.doi.org/10.5546/aap.2013.484
INTRODUCTION
Congenital anomalies (CAs)
are morphological or functional
alterations of prenatal etiology
which are present since birth, even if
detected later in life.1 The prevalence
of CAs in newborn infants ranges
between 3% and 5%, and they can
be classified as major or minor.2
Major CAs have a significant effect
on health and generally require
medical or surgical treatment (e.g.,
cleft lip and palate, gastroschisis,
Down’s syndrome); minor CAs are
clinical signs with no implications
on health (e.g., prominent ears,
epicanthal fold, preauricular sinus).
With the management of infectious
and nutritional diseases, the relative
significance of CAs in child mortality
has increased.3 CAs accounted for 11%
in 1980, for 25% in 2010, and are now
the second cause of child mortality in
Argentina.4
CAs have a varied etiology, and
50% of them are still of unknown
origin.5 The known causes include
mutations in a major gene or
chromosomal anomalies, prenatal
exposure to teratogenic factors,
and the effect of predisposing
genes expressed when triggered by
environmental factors. Traditionally,
CAs were regarded as “non-
reducible;” however, there are
multiple preventive actions that can
be applied throughout the different
stages of life.8,9
CAs are individually uncommon
events, and therefore epidemiological
studies require a large number of
individuals.
For this reason, CA surveillance
systems with large databases, an
adequate level of diagnosticquality
and continuous operation over time
are useful for studying causative
agents, such as environmental
pollutants, nutritional factors or
maternal diseases.
Such systems first appeared in the
1960s, after the so-called “thalidomide
tragedy,”10 and their initial objective
was to closely monitor any change in
a. National Genetic
Medical Center
NationalAdministration
of Health Institutes
and Labs (Ministry of
PublicHealth).
b. Latin-American
Collaborative Study
of ECLAMC-CEGEBI-
CEMIC.
c. Members of the Task
Force, participants
of the National
Registry of Congenital
Anomalies who
made contributions
to the study (see
the Acknowledgment
section).
E-mail Address:
Boris Groisman, M.D.:
bgroisman@gmail.com
Funding
The study was partially
funded by the Comisión
Nacional Salud Investiga,
through a Carrillo-
Oñativia scholarship for
2011, and the Plan Nacer.
Conflict of Interest:
None.
Received: 04-15-2013
Accepted: 06-14-2013
Original article
RENAC: National Registry of Congenital Anomalies in Argentina / 485
prevalence, for the early detection and prevention
of any similar epidemics. Since that time, the
objectives of surveillance have widened their
scope. Now objectives include the comparison of
regions, the analysis of trends or the discovery of
new determining factors, and also the evaluation
of prevention strategies, the interconnection
of patients with healthcare services, and the
collaboration in resource allocation.11-13
In Argentina, deaths caused by CAs are
reported in the Death and Fetal Death Statistical
Reports. However, Live Birth Statistical Reports
do not include information on CAs, and
although the Perinatal Information System
does include CAs, it establishes that only
one anomaly can be coded per child, selected
from a predefined, non comprehensive list
of options.14 In addition, several Argentine
hospitals are part of the Latin-American
Collaborative Study of Congenital Malformations
EstudioColaborativoLatinoamericano de
Malformaciones Congénitas, ECLAMC), a
voluntary network of South American maternity
centers with a case and control design.15 Although,
for decades, data provided by the ECLAMC was
the only epidemiological information available, its
coverage is not wide and its design is operatively
complex. The relative increase of CAs in child
mortality, that we mentioned above, and the lack
of statistical tools for establishing their prevalence
were determining factors for the creation of
a national registry, in addition to the need of
information to evaluate recent warning signs
indicative of a relationship between CAs and
environmental pollutants. In this context, and
prior to conducting a feasibility pilot study,16the
National Registry of Congenital Anomalies
(RegistroNacional de Anomalías Congénitas
de Argentina, RENAC) was organized in 2009
within the framework of the “National Genetic
Medicine Network” Program of the National
Ministry of Health, which is coordinated by
the National Genetic Medical Center (Centro
Nacional de GenéticaMédica, CNGM and the
National Administration of Health Institutes and
Lab (ANLIS).
The objective of this study was to describe
the characteristics and operation of the RENAC
registry and the prevalence at birth of 56 specific
selected CAs, compared to other registries.
POPULATION AND METHODS
Material
The target population of the RENAC is made
up of all newborn infants born in Argentina. This
study was restricted to the data reported by the
first 98 hospitals included in the study between
November 1st, 2009 and June 30th, 2012.
The case definition was that of newborn
infants with major morphological CAs, whether
external or internal, identified from birth until
hospital discharge and detected during physical
examination or using supplementary tests,
interventions or an autopsy. The definition
includes all live newborn infants and stillbirths
with a weight of 500 g or more, and excludes
those who have only minor or functional CAs
(e.g., hearing loss).
Methods
Data collection (Figure 1) is done using a
form attached to the medical record of women
hospitalized to give birth, on which the presence
of a congenital anomaly in the newborn infant is
recorded. If the infant has a CA, this is described
and additional outcome measures are filled in
as per the standard procedures indicated in
an operational manual. The RENAC’s team in
every hospital is made up of two neonatologists
or a neonatologist and a member of the health
team. At the end of each month, they retrieve
all cases of congenital anomalies and enter the
data in an electronic file, including the total
number of live births and stillbirths for that
month. Using a web site hosted at Amazon
Web Services and thevBulletin 4 software, with
a password-restricted access to participants,
the electronic file is sent to the coordination
department, made up of four professionals
from the CNGM (authors BG, MPB, PB and RL),
with the help of a professional who provides
statistical support (author JAG). The coordination
department reviews the quality of descriptions
and compliance with the inclusion of additional
outcome measures, and corrections are made if
the information provided is incomplete or not
clear.
CA coding is the responsibility of geneticists,
and it is performed as per the International
Classification of Diseases 10th Revision,
adapted by the British Pediatric Association.17
Following the analysis, data are disseminated
to participating hospitals and health authorities
(Figure 1).
The RENAC’s web site is organized as a
communication system with forums. Each
responsible team uses a hospital exclusive
forum to submit data and the coordination
486 / Arch Argent Pediatr 2013;111(6):484-494 / Original article
department makes the necessary corrections; the
forums common to all hospitals are used to solve
operational problems, discuss selected cases and
publish academic resources. Each neonatologist
has a profile with their name and picture, and
they can access the web site at any time to submit
questions or comments. At the same time, forum
exchanges are made in a clinical context and to
provide guidance on the initial management
of affected newborn infants. Depending on the
case, pictures and additional tests are submitted
to the forum and analyzed, once the parents’
informed consent is obtained. Additionally, the
coordination department helps to refer cases to
genetic departments and submit samples for lab
tests.
Analysis
Newborn infants with congenital anomalies
were classified as follows: isolated or multiple
CAs or CA syndromes, sequences or associa-
tions; sex; status at birth; twin pregnancy; status
at the time of data submission; gestational age;
weight; and maternal age. The percentage of to-
tal newborn infants and the prevalence per 10 000
individuals were calculated for 56 specific CAs
selected based on their clinical significance, their
impact on morbidity and mortality, or the pres-
ence of at least 5 reports. Prevalences were cal-
culated as per Poisson’s distribution, with a 95%
confidence interval, and were compared to those
obtained by the Consortium of the European Sur-
veillance of Congenital Anomalies(EUROCAT)
(2005-2009 period)18 and those obtained by the
ECLAMC (2005-2007 period).9 For each specific
CA, a “Z” value was obtained using the RENAC
as a reference (expected value) and the ECLAMC
(Z1) and EUROCAT (Z2) as comparator values
(observed value) [Z= (observed value-expect-
ed value)/ root(expected value)]. The statistical
significance was established using Bonferroni’s
correction for multiple comparisons, in Z= ±3.5,
corresponding to a p value of 0.00025. The Stata
statistical software was used.
Figure 1. RENAC’s operation
RENAC: National Registry of Congenital Anomalies in Argentina / 487
RESULTS
Figure 2 summarizes the activities performed
in relation to the RENAC organization. A total of
98 hospitals were included and the coordination
department was expanded to four CNGM
members. The National Ministry of Health
committed to printing products (reports) and
supplies (forms, operational manual) and to
providing funds for annual meetings. These
meetings were attended by neonatologists,
members of other health programs, clinical
geneticists and health authorities; annual
reports were presented and electronic databases
and individual reports were delivered to the
responsible teams from each hospital. Also,
personal interaction was encouraged, new
members were trained, clinical cases were
discussed, and awards were given for the timely
input of data, the quality of descriptions, the
use of local data and the submission of cases for
discussion in the web forum. Figure 3 summarizes
the main characteristics of the RENAC as per the
attributes used to evaluate surveillance systems.19
The 98 hospitals were progressively included
(Table 1 and Figure 2), until a 65% annual coverage
of the public subsector and 35% of all births in
Argentina were reached. Between November 1st,
2009 and June 30th, 2012, 294 005 newborn infants
were examined and 5743 cases of congenital
anomalies were reported.
Of these, 5165 had major CAs (positive
predictive value= 89.94%); the remaining 578
cases (10.06% false positive cases) were newborn
infants who did not meet the inclusion criteria.
Table 1.Coverage evolution of the RENAC according to jurisdiction
Jurisdictions RENAC Total estimated Annual coverage of RENAC Annual coverage of RENAC
annual births
a
for the total number of births
b
of births in the public sector
b
2009 2010 2011 2012 2009 2010 2011 2012 2009 2010 2011 2012
Buenos Aires 23 409 51 737 100 670 0% 10% 21% 40% 0% 15% 36% 69%
CABA 28 938 30 561 30 849 0% 35% 36% 36% 0% 86% 87% 91%
Catamarca 2224 2378 2390 0% 33% 35% 37% 0% 67% 68% 67%
Chaco 4698 5538 5655 5550 21% 25% 25% 23% 32% 38% 37% 33%
Chubut 2420 2212 0% 0% 25% 23% 0% 0% 62% 56%
Córdoba 14 852 15 426 0% 0% 25% 27% 0% 0% 56% 59%
Corrientes 2856 3167 3111 3258 14% 16% 15% 16% 22% 23% 23% 24%
Entre Ríos 6544 7364 0% 0% 29% 33% 0% 0% 56% 64%
Formosa 3240 3282 3295 3420 27% 28% 28% 28% 39% 40% 41% 41%
Jujuy 3908 3736 3728 0% 30% 28% 27% 0% 44% 41% 40%
La Pampa 1864 2172 0% 0% 34% 41% 0% 0% 65% 83%
La Rioja 1844 2062 0% 0% 31% 33% 0% 0% 63% 68%
Mendoza 8724 9168 0% 0% 26% 27% 0% 0% 51% 54%
Misiones 4500 4963 5139 5660 18% 19% 21% 26% 32% 33% 35% 45%
Neuquén 2544 2618 0% 0% 21% 23% 0% 0% 37% 42%
Río Negro 2104 1980 0% 0% 17% 16% 0% 0% 31% 29%
Salta 8324 8585 11 602 0% 32% 31% 41% 0% 47% 45% 60%
San Juan 6860 7312 0% 0% 48% 51% 0% 0% 90% 94%
San Luis 2100 2102 0% 0% 27% 27% 0% 0% 53% 54%
Santa Cruz 1084 1128 0% 0% 18% 19% 0% 0% 24% 25%
Santa Fe 4824 17 414 20 594 0% 9% 33% 38% 0% 19% 69% 81%
Santiago del Estero 5844 6373 6736 0% 32% 38% 39% 0% 44% 54% 56%
Tierra del Fuego 1421 1528 0% 0% 57% 61% 0% 0% 100% 100%
Tucumán 9148 16 233 17 606 0% 32% 53% 58% 0% 56% 92% 100%
Total RENAC 15 294 103 569 206 578 267 135 2% 14% 27% 35% 4% 25% 50% 65%
a. The RENAC total number of annual births in each jurisdiction was calculated based on an estimation of annual births
occurred in each jurisdiction hospitals.
b. For each year, coverage is estimated based on the total number of births reported by the DEIS for the previous year.
488 / Arch Argent Pediatr 2013;111(6):484-494 / Original article
Incorporación
de hospitales
Inician 4 hospitales de
la región NEA
27 nuevos hospitales:
22 región Centro
5 región NOA
Total: 31 hospitales
47 nuevos hospitales:
29 región Centro
11 región Patagonia
4 región Cuyo
2 región NOA
Total: 78 hospitales
21 nuevos hospitales
en la región Centro
Total: 98 hospitales
Estructura y
Actividades
RENAC
Dos integrantes en la
coordinación.
Diseño e impresión
del Formulario.
1º Encuentro Anual de
capacitación.
Incorporación del
Manual Operativo.
Implementación de la
comunicación
mediante Foro-online.
Encuentro Anual de
capacitación.
La coordinación pasa
de 2 a 3 integrantes; se
incorpora 1 profesional
externo y 1
administrativo.
Actualización del
Manual Operativo.
Presentación del
primer Reporte Anual.
Capacitaciones
regionales.
Encuentro Anual de
capacitación.
La coordinación pasa
de 3 a 4 integrantes.
Nueva actualización
del Manual Operativo.
Segundo Reporte
Anual.
Afiche con flujograma
que se distribuye en
los hospitales.
Inicio de proyectos de
investigación
especiales.
Incorporación del
RENAC como miembro
de la International
Clearinghouseof Birth
DefectsSurveillance
and Research -
ICBDSR.
Encuentro Anual de
capacitación.
2%
14%
27%
35%
4%
25%
50%
65%
0%
10%
20%
30%
40%
50%
60%
70%
2009 2010 2011 2012
Total Argentina
Sector público
Figure 2. RENAC’s activities and coverage evolution of births monitored in the first 98 hospitals (from November 1st, 2009
to June 30th, 2012)
Total Argentina
Public sector
Hospital inclusion 4 hospitals from the 27 new hospitals: 47 new hospitals: 21 new hospitals
Northeast Region start 22 hospitals from the 29 hospitals from the in the Central Region
Central Region Central Region Total: 98 hospitals
5 hospitals from the 11 hospitals from Patagonia
Northwest Region 4 hospitals from
Total: 31 hospitals the Cuyo Region
2 hospitals from the
Northwest Region
Total: 78 hospitals
Structure and •Two members in the •Inclusion of the •The coordination •The coordination
activities of the coordination department operational manual department increases department
RENAC •Form design and printing •Communication from 2 to 3 members; increases from 3
•1st Annual implementation through with 1 external and 1 to 4 members.
Training Meeting an online forum professional •New update of
•2nd Annual administrative member the operational
Training Meeting •Update of the manual.
operational manual •Second Annual Report
•Submission of the •Diagram ow poster
first Annual Report distributed to the
•Regional training hospitals
•3rd Annual Training •Initiation of special
Meeting research projects.
•Inclusion of the
RENAC as member of
the International
Clearinghouse of Birth
Defects Surveillance
and Research - ICBDSR
•4th Annual Training
Meeting.
RENAC: National Registry of Congenital Anomalies in Argentina / 489
Figure 3. Health surveillance systems’ attributes and RENAC’s characteristics
Attribute Definition Characteristics of the RENAC Registry
Simplicity It refers to the structure and ease of It includes a single source of data and does not require
operation of the registry. A surveillance case follow-up; exposure factors are not assessed.
system has to be as simple as possible Case confirmation is based on the neonatologists’ clinical
without leaving its objectives behind. judgment and is supported by routine supplementary
tests. Additional outcome measures are obtained from
medical records and do not require interviewing mothers.
Acceptability It reects individuals’ will and the agreement The appointment of responsible teams was agreed upon
of organizations to take part in the by neonatologists who were willing to participate and
surveillance system. local authorities.
The reporting and communication system is useful in
the clinical context.
Flexibility It refers to the system’s capability to adapt to No changes were made in the definition of case,
any change in relation to information needs additional sources of data or technological resources,
or operation conditions without taking up but the original form has been recently amended to
additional time, resources or funding. include new outcome measures in a seamless fashion.
Quality of data It reects the completeness and validity of An open description eld is used to characterize
data recorded in the surveillance system. congenital anomalies, thus allowing an interpretation
process before coding the event. This would not be
possible if a predefined list of options was used because
it usually does not include less frequent CAs and it is an
obstacle for the inclusion of multiple CAs
A centralized coding by geneticists warrants technical
suitability and criteria homogeneity.
Sensitivity It refers to the proportion of cases with a The data collection process at the RENAC registry starts
disease detected by the surveillance system. by attaching the form to the mother’s medical record,
In addition, it may refer to the power of the thus ensuring case detection right at the labor room.
system to detect epidemics by monitoring any Including multiple sources of data (children hospitals,
change in the number of cases over time. genetic medicine departments, etc.) so as to increase
sensitivity may make the system more complex
(longer time, higher cost) and threaten its stability.
It cannot be estimated because there is no Gold Standard
for sensitivity. However, it has been observed that the
prevalence of specific CAs observed by the RENAC is
similar to that of other registries.
Positive It is the proportion of reported cases that In the November 2009-June 2012 period, the observed
Predictive Value actually have the health event under surveillance. positive predictive value was 89.94%
Representativity It is the capacity to accurately describe. In Argentina, 99.4% of births take place in a health facility;
the event over time and its distribution in the therefore, the number of lost cases is negligible.
population by place and by subject. It is possible that the prevalence is overestimated due to
the referral of cases detected at smaller health facilities
or hospitals by antenatal ultrasonography. However, it is
expected that such effect will be reduced as maternity
centers are regionalized and as smaller maternity
centers are included.
At present, the RENAC registry is restricted to hospitals in
the public subsector; as a consequence, there is a selection
bias resulting from the systematic exclusion of a
population sector.
Opportunity It reects the speed at which each step in a The time elapsed from the occurrence of a health event
public health surveillance system takes place. until it is reported is usually one month, followed by a
request for corrections, coding and analysis.
In the case of potentially life-threatening events,
ambiguous genitalia or multiple CAs, neonatologists
report and contact the coordination department through
the web forum immediately after birth takes place.
Stability It refers to the capacity of adequately collecting, Since its creation, the RENAC registry has been
managing and providing data, and also to a continuously operating. People in charge of reporting
sustained operation. events are part of the hospitals’ full-time staff.
The coordination department increased from two to four
members, and operates as an institution of the CNGM.
The RENAC registry has progressively included hospitals
and has received funds from the National Ministry of
Health, these funds are allocated to annual training
meetings, printing forms, operational manuals and reports.
490 / Arch Argent Pediatr 2013;111(6):484-494 / Original article
Table 2. Characteristics of cases with major congenital anomalies as per different outcome measures. RENAC, November
2009 - June 2012
Outcomemeasure Categories Cases Percentage
Classification* Isolated 3418 66.18
Multiple congenital anomalies 866 16.77
Syndromes, sequences or associations 858 16.61
UN 23 0.45
Sex Male 2701 52.29
Female 2341 45.32
Undetermined 103 1.99
UN 20 0.39
Status at birth Alive 4927 95.39
Deceased 234 4.53
UN 4 0.08
Twin pregnancy Twin 182 3.52
Nottwin 4753 92.02
UN 230 4.45
Status at the time Discharged alive 3438 66.56
of data submission Discharged deceased 963 18.64
Still hospitalized 726 14.06
UN 38 0.74
Gestational age <37 weeks 1456 28.19
37 weeks 3452 66.83
UN 257 4.98
Weight <2500 g 1608 31.14
2500 g 3540 68.54
UN 17 0.33
Maternal age <20 1100 21.30
20-24 1468 28.42
25-29 1013 19.61
30-34 740 14.33
35-39 517 10.01
40-44 253 4.90
45+ 35 0.68
UN 39 0.76
*Isolated, when the case presents a single congenital anomaly, or two or more congenital anomalies in the same system organ
class which do not account for a known syndrome, association or sequence.
Multiple, when the case presents major congenital anomalies affecting different, unrelated system organ classes, which do
not correspond to a known syndrome, association or sequence; known syndromes, associations or sequences (e.g., Down’s
syndrome, Patau’s syndrome, Edwards’ syndrome, prune belly sequence, etc.) if they correspond to specific entities.
UN: unspecified.
The classification of cases is presented according
to the different outcome measures (Table 2). The
overall prevalence of major CAs at birth was
1.76% (95% CI: 1.71-1.80).
The prevalence observed for each one of the 56
specific selected CAs is presented together with a
comparison with the data from the ECLAMC and
the EUROCAT (Table 3).
Compared to the ECLAMC, it has been ob-
served that the RENAC has a significantly higher
prevalence of cleft palate, kidney cysts, and sep-
tal and valvular heart defects, and a significant-
ly lower prevalence of hydrocephalus, anorectal
atresia, diaphragmatic hernia, total hypospadias,
preaxialpolydactyly, postaxial polydactyly, talipe-
sequinovarus and talipescalcaneovalgus.
Compared to the EUROCAT, it has been
observed that the RENAC has a significantly
higher prevalence of hydrocephalus, cleft lip +/-
palate, ambiguous genitalia, and gastroschisis,
and a lower prevalence of heart diseases, cleft
palate, hypospadias, unspecified polydactyly,
syndactyly, hip subluxation/dislocation, and
talipesequinovarus.
RENAC: National Registry of Congenital Anomalies in Argentina / 491
Table 3. Prevalence of major selected congenital anomalies at birth (isolated and associated CAs), RENAC, ECLAMC and
EUROCAT
Specific selected CAs RENAC ECLAMCa EUROCATb
N Prevalence CI Prevalence CI Z1 Prevalence CI Z2
x10 000 95% x10 000 95% x10 000 95%
Anencephaly (Q00) 105 3.6 2.9-4.3 3.7 2.4-4.9 0.2 3.6 3.4-3.9 0.1
Encephalocele (Q01) 57 1.9 1.5-2.5 2.0 1.0-2.9 0.1 1.2 1.0-1.3 -3.0
Microcephaly (Q02) 89 3.0 2.4-3.7 3.0 1.8-4.1 -0.2 - - -
Spinabifida (Q05) 189 6.4 5.5-7.4 6.6 4.9-8.4 0.4 5.0 4.7-5.3 -3.1
Hidrocephaly (Q03) 267 9.1 8.0-10.2 11.6 9.3-13.8 4.5 5.8 5.5-6.2 -5.8
Holoprosencephaly (04.1-04.2) 76 2.6 2.0-3.2 - - - - - -
Anophthalmia (Q11.1) 16 0.5 0.3-0.9 - - - - - -
Microphthalmia (Q11.2) 36 1.2 0.9-1.7 - - - - - -
Anotia (Q16.0) 8 0.3 0.1-0.5 - - - 0.4 0.3-0.4 1.0
Microtia (Q17.2) 123 4.2 3.5-5.0 - - - - - -
Anotia + microtia (Q16.0, Q17.2) 131 4.5 3.8-5.3 4.1 2.7-5.4 -0.9 - -
Transposition of the great vessels (Q20.3) 44 1.5 1.1-2.0 - - - 3.4 3.2-3.6 8.3
Tetralogy of Fallot (Q21.3, Q21.82) 66 2.2 1.7-2.9 - - - 3.2 3.0-3.5 3.5
Atrial septal defect (Q21.1-Q21.18) 374 12.7 11.5-14.1 - - - 23.8 23.2-24.5 16.8
Ventricular septal defect (Q21.0) 538 18.3 16.8-19.9 - - - 34.3 33.7-35.2 20.3
Total septal heart defects (Q21.0-Q21.9) 833 28.6 26.7-30.6 15.1 13.7-16.6 -13.5 - - -
Total valvular heart defects (Q22-Q23.9) 213 7.3 6.4-8.4 1.2 0.7-1.9 -12.2 - - -
Hypoplastic left heart (Q23.4) 45 1.5 1.1-2.1 - - - 2.8 2.5-3.0 5.3
Aorta coarctation (Q25.1-Q25.19) 46 1.6 1.2-2.1 - - - 3.6 3.3-3.8 8.6
Choanal atresia (Q30.0) 9 0.3 0.1-0.6 - - - - - -
Cleft palate (Q35) 95 3.2 2.6-4.0 1.6 0.7-2.4 -5.1 6.0 5.7-6.3 8.2
Cleft lip +/- palate (Q36-Q37) 352 12.0 10.8-13.3 10.8 8.6-13.0 -1.8 9.4 9.1-9.9 -4.0
Esophageal atresia (Q39.0-Q39.11) 98 3.3 2.7-4.1 3.3 2.1-4.5 -0.1 2.4 2.2-2.6 -2.8
Intestinal atresia (Q41.1-Q41.9) 47 1.6 1.2-2.1 - - - - - -
Duodenal atresia (Q41.0) 49 1.7 1.2-2.2 1.1 0.4-1.9 -2.2 - - -
Anorectal atresia (Q42.0-Q42.3) 104 3.5 2.9-4.3 5.6 4.0-7.2 6.0 3.0 2.8-3.2 -1.5
Diaphragmatic hernia (Q79.0-Q79.01) 98 3.3 2.7-4.1 4.9 3.4-6.4 4.8 2.7 2.5-2.9 -1.9
Cryptorchidism (Q53.2) 23 0.8 0.5-1.2 - - - - - -
UN cryptorchidism (Q53.0, Q53.9) 9 0.3 0.1-0.6 - - - - - -
Ambiguousgenitalia (Q56.4) 69 2.4 1.8-3.0 2.0 1.0-2.9 -1.4 0.7 0.6-0.8 -5.9
Hypospadias (Q54.1-Q54.3) 7 0.2 0.1-0.5 - - - - - -
UN hypospadias (Q54.9) 37 1.3 0.9-1.7 - - - - - -
Total hypospadias (Q54) 44 1.5 1.1-2.0 4.7 3.3-6.2 14.2 17.7 17.2-18.3 71.8
Bilateral renal agenesis (Q60.1) 33 1.1 0.8-1.6 - - - 1.2 1.0-1.3 0.3
Renal cysts (Q61.1-Q61.90) 144 4.9 4.1-5.8 3.2 2.0-4.4 -4.2 - - -
Epispadias (Q64.0) 8 0.3 0.1-0.5 - - - - - -
Bladder exstrophy (Q64.1) 7 0.2 0.1-0.5 - - - - - -
Hip subluxation or dislocation (Q65) 66 2.2 1.7-2.9 2.8 1.7-4.0 2.2 7.3 7.0-7.7 18.4
Talipes calcaneovalgus (Q66.4) 51 1.7 1.3-2.9 2.8 1.7-4.0 4.6 - - -
Talipes equinovarus (Q66.0) 205 7.0 6.1-8.0 14.3 11.7-16.8 15.0 10.8 10.4-11.3 7.8
UN talipes (Q66.8) 117 4.0 3.3-4.8 - - - - - -
Preaxial polydactyly (Q69.00, Q69.1, Q69.20) 48 1.6 1.2-2.2 4.0 2.6-5.3 10.2 - - -
Postaxial polydactyly (Q69.02, Q69.22) 155 5.3 4.5-6.2 9.9 7.6-11.8 11.0 - - -
UN polydactyly (Q69.9) 14 0.5 0.3-0.8 0.4 0.1-0.8 -0.5 9.2 8.8-9.6 68.4
Syndactyly (Q70.0-Q70.30, Q70.4-Q70.90) 122 4.2 3.5-5.0 3.8 2.5-5.1 -1.0 5.5 5.2-5.9 3.7
Transverse limb defect (Q71.2-Q71.30) 93 3.2 2.6-3.9 2.0 1.1-3.0 -3.5 - - -
Preaxial limb defect (Q71.31, Q72.5) 52 1.8 1.3-2.3 1.2 0.5-2.0 -2.2 - - -
Postaxial limb defect (Q71.5, Q72.6) 13 0.4 0.2-0.8 - - - - - -
Intercalary limb defect (Q71.1, Q73.1) 1 0.1 0.0-0.2 - - - - - -
UN limb defect (Q71.8-Q71.9, Q72.8-Q72.90) 75 2.6 2.0-3.2 - - - - - -
Omphalocele (Q79.2) 86 2.9 2.3-3.6 3.7 2.4-5.0 2.5 2.9 2.7-3.1 0.0
Gastroschisis (Q79.3) 262 8.9 7.9-10.1 7.4 5.6-9.3 -2.7 2.9 2.7-3.1 -11.0
Prunebelly sequence (Q79.4) 17 0.6 0.3-0.9 - - - - - -
Down’s syndrome (Q90) 563 19.2 17.6-20.8 18.5 15.6-21.3 -0.8 20.9 20.4-21.6 2.2
Trisomy 13 (Q91.4-Q91.7) 15 0.5 0.3-0.8 - - - - - -
Trisomy 18 (Q91.0-Q91.3) 38 1.3 0.9-1.8 - - - - - -
a. López Camelo, et al., 2010.
b. Data accessed from http://www.eurocat-network.eu/
Z1: Z value obtained by comparing the frequencies observed by ECLAMC vs. RENAC. Positive values indicate a higher rate as
per the ECLAMC system, negative values indicate a higher rate as per the RENAC.
Z2: Z value obtained by comparing the frequencies observed byEUROCAT vs. RENAC. Positive values indicate a higher rate as
per the EUROCAT system, negative values indicate a higher rate as per the RENAC.
UN: unspecified.
492 / Arch Argent Pediatr 2013;111(6):484-494 / Original article
DISCUSSION
The observed prevalence (1.76% cases) is
within expected rates if only major morphological
CAs are considered. The most common CAs were
heart diseases, Down’s syndrome, oral clefts and
the set of neural tube defects (anencephaly, spina
bifida, encephalocele), consistent with ECLAMC
and EUROCAT reports, and with the literature.3
Of the specific CAs with significantly
different prevalences between the RENAC
and the ECLAMC, talipesequinovarus,
preaxialpolydactyly and postaxial polydactyly
had a lower prevalence in the RENAC; however,
such differences disappeared when analyzing the
total number of cases with talipesor polydactyly,
which included unspecified forms of these
anomalies. It is considered that these cases
were detected by the RENAC, but they were
not specifically described (for example, the
term “polydactyly” was described instead of
“postaxial polydactyly”, or “club foot” instead of
“talipesequinovarus”). In addition, the RENAC
recorded a higher rate of septal and valvular heart
defects, which could be attributed to the fact that
ECLAMC data correspond to a previous period
(2005-2007) than that of the RENAC (2009-2012),
probably with a lower availability of heart studies
and prior to the National Heart Disease Program,
which started in 2008.
In relation to the specific CAs which had
significantly different prevalences between the
RENAC and the EUROCAT, some differences
could be explained by the fact that the registries
of the consortium include a follow-up period of
newborn infants until they turn one year old. For
example, heart diseases and hip subluxation/
dislocation might not be evident at birth and,
therefore, it is assumed that the EUROCAT has a
better detection capacity. The higher prevalence of
hypospadias in the EUROCAT can be attributed
to a previously reported increasing trend.20
In relation to gastroschisis, it is known that
its rate is higher in the descendants of young
women;21 therefore, the lower prevalence found
by the EUROCAT can be attributed to differences
in the structure of maternal age.22 The higher
frequency of a cleft lip +/- palate observed by the
RENAC can be explained by the American Indian
component present in our population, previously
associated with this anomaly.23 The differences
observed in the prevalence of the remaining CAs
could be due to operational aspects or actual
differences.
There are no ideal systems or a single possible
organization for the surveillance of CAs. In some
countries, surveillance is conducted passively,
through health statistics; in others, surveillance is
active and involves the staff in charge of searching
cases.24 The sensitivity of birth certificates, using
active surveillance registries as reference, showed
an under-recording that ranges between 30% and
60% in the United Kingdom,25,26 and between 50%
and nearly 90% in the United States.27,28 In Brazil,
under-recording was variable, depending on the
CAs considered and the methods used.29,30
The RENAC conducts a mixed surveillance,
with data collected by neonatologists, who
are part of the hospital’s personnel, but they
are also part of this special registry, which
is centrally coordinated. Given that 99.4% of
births in Argentina take place in health facilities,
and within framework of birth regionalization
process currently taking place in the country,31
the organization of a hospital-based registry
was the selected strategy. Priority was given
to the public subsector hospitals which are
considered a referral center in their health region
or which have more than 1000 births per year,
thus ensuring a high number of births, adequate
diagnostic resources (trained doctors, X-rays,
ultrasounds, etc.) and a sufficient number of cases
to implement systematic registration. Although
the RENAC has a high coverage in the public
sector, births taking place in social security
and private facilities are still not recorded;
therefore, there would be a bias resulting from
their systematic exclusion. It is expected that non
public and smaller maternity centers will start
being included.
This study offers a first baseline regarding
the prevalence of certain specific CAs. This is the
initial step of the first objective of the RENAC,
i.e., to monitor the prevalence of specific CAs,
detect geographic variations or temporary trend
changes, generate the hypothesis regarding
determining factors, and evaluate the impact
of population interventions. Additionally, in a
country like Argentina, where genetic services
have not been sufficiently developed,32 the
RENAC also proposes to contribute to the early
management of newborn infants with CAs. As a
consequence, the system does not only involve
the flow of data from hospitals to the coordination
department, it is also based on an continuous
exchange and the remote support of health teams.
Health surveillance is taken as the production of
the data-information-knowledge triad, and also
as the communication-action processes for its use
towards the reduction of inequalities.33
The system collects, processes and shares
RENAC: National Registry of Congenital Anomalies in Argentina / 493
information, and at the same time, acts as a
management support by training and motivating
health teams. This strategy seems fundamental,
both to favor medical care of affected newborn
infants and to reach a purely epidemiological
goal. But having a continuous surveillance system
with a high coverage and quality in place does not
seem possible without the strong commitment of
participants based on their conviction regarding
the system’s usefulness for local management.
Some of the RENAC’s strengths include its
high coverage in the public sector; its operational
simplicity, which could be expanded at a national
level; the guidelines established in an operational
manual with standard procedures; the use of an
open source field for describing CAs instead of
having a multiple choice list; a centralized coding
in the hands of geneticists, thus ensuring its
suitability and homogeneous criteria; and the use
in the clinical context for the initial management
of affected newborn infants.
In relation to the system’s weaknesses, we
could mention the fact that non-public facilities
have not yet been included; that CAs detected
upon the hospital discharge are not recorded;
that there is a possible prevalence over-estimation
of the CAs detected prenatally and referred to
hospitals with a higher level of care, i.e., those
which are part of the RENAC; and that risk
factors are not systematically recorded but only
through special research projects.
CONCLUSIONS
Since it started operating, the RENAC has
expanded and reached a high coverage of the
public sector thanks to the support provided
by the authorities and the commitment of the
participating health teams. Differences observed
in the prevalence of CAs between the RENAC and
other registries could be attributed to operational
aspects or actual differences, depending on the
case.
In addition to the objective of producing
information relevant to the surveillance and
epidemiological research of congenital anomalies,
the RENAC works through the continuous
exchange among its participants, which allows to
comply with another objective of the registry: to
provide support to health teams in relation to the
initial management of affected newborn infants.
The RENAC deals with the collection, analysis
and dissemination of information regarding CAs
in Argentina, and also collaborates with local
interventions in the different prevention levels of
these anomalies.n
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RENAC: National Registry of Congenital Anomalies in Argentina / 495
ANEXO SOLO EN PÁGINAS ELECTRÓNICAS
Acknowledgments
Members of the RENAC’s Task Force working at the 98 hospitals included in the system up to June
30th, 2012.
Hospital Paroissien, La Matanza, Province of Buenos Aires
Andrea Puss Barraza
Magdalena Bisbal
Hospital Presidente Perón, Avellaneda, Province of Buenos Aires
Mariana Brautigam
Carla Zicavo
Hospital Nacional Alejandro Posadas, Haedo, Province of Buenos Aires
Isabel Micelli
Alicia Aranaz
Verónica Pingray
MaríaElena Borda
Hospital Evita, Lanús Oeste, Province of Buenos Aires
Mirta Noemí Raggio
Silvina Espósito
Verónica Mohando
Romina Flores
Hospital Narciso López, Lanús Este, Province of Buenos Aires
Mónica Jewtuszyk
Viviana Pagani
Hospital Magdalena Martínez, Pacheco, Province of Buenos Aires
Stella Maris Benitez
Hospital San Martín, La Plata, Province of Buenos Aires
Graciela Ramos
Marcos Miró
Dominique Mastropaolo
Hospital San Roque, La Plata, Province of Buenos Aires
NoemíOrellano
Ana Ceccon
MaríaRosa Toncich
Hospital Gandulfo, Lomas de Zamora, Province of Buenos Aires
Juan Carlos Delucca
Laura Botti
Viviana Cosentino
Hospital Mi Pueblo, Florencio Varela, Province of Buenos Aires
Cecilia Iraira
MaríaJosé Wernisch
Hospital Oñativia, Rafael Calzada, Province of Buenos Aires
Marcela Valenzuela
MaríaAntonia Afur
Hospital Meléndez, Adrogué, Province of Buenos Aires
Eva Cilia
Ana Barsellini
Ana Carolina Rocco
Hospital Ana Goitía, Avellaneda, Province of Buenos Aires,
Adriana Mosquera,
Valeria Vera
ANEX
496 / Arch Argent Pediatr 2013;111(6):484-494 / Original article
Hospital Evita Pueblo, Berazategui, Province of Buenos Aires
Mercedes Córdoba
Fabián Tomasoni
Hospital Iriarte, Quilmes, Province of Buenos Aires
Graciela Carballido
Silvia Ferroni
Hospital Oller, San Francisco Solano, Province of Buenos Aires
Melvin Barrantes
Hospital Eurnekian, Ezeiza, Province of Buenos Aires
Sandra Vanesa Romero Domínguez
Marcela Martínez
José Vega Chancafe
Hospital Alende, Lomas de Zamora, Province of Buenos Aires
Adrián Toffe
Hospital Fiorito,Avellaneda, Province of Buenos Aires
Felicitas Fumiere
Hospital Santamarina, Esteban Echeverría, Province of Buenos Aires
Marta Deckert
Margarita Gellini
Hospital Equiza, González Catán, Province of Buenos Aires
Rubén Goncalvez
Rodolfo Zaiat
Hospital Virgen del Carmen, Zárate, Province of Buenos Aires
Carlos Bachiochi
Horacio Cali
Hospital Bocalandro, Tres de Febrero, Province of Buenos Aires
Mariana Oreglia
David Fernández
Hospital San Felipe, San Nicolás, Province of Buenos Aires
Viviana Rodríguez
Graciela Olloco
Hospital Penna, Bahía Blanca, Province of Buenos Aires
María Fernanda Maurín
Sonia Scardapane
Hospital P.V. Cordero, San Fernando, Province of Buenos Aires
Marcelo Prieto
María Marta Sánchez Vera
Hospital Tettamanti, Mar del Plata, Province of Buenos Aires
Eduardo Gil
Jorge Raverta
Hospital Eva Perón, San Martín, Province of Buenos Aires
Maricel Pontorno
Andrea Becerra
Hospital Larcade, San Miguel, Province of Buenos Aires
Beatriz Velázquez
Fabiana Olivera
Hospital Santa Rosa, Vicente López, Province of Buenos Aires
Carina Tula
Patricia Moreno
RENAC: National Registry of Congenital Anomalies in Argentina / 497
Hospital Lavignolle, Morón, Province of Buenos Aires
Teresa Gentile
Verónica Figueredo
Hospital Mariano y Luciano de La Vega, Moreno, Province of Buenos Aires
Adriana Dagostino
Sabrina Chattah
Hospital Mercante, José C. Paz, Province of Buenos Aires
Gabriela Klinge
Julieta Sada
Lorena Bentivegna
Hospital Meissner, Pilar, Province of Buenos Aires
Stella Maris Benitez
Natalia González
Hospital Vicente López y Planes, Gral. Rodríguez, Province of Buenos Aires
Beatriz Rugelman
Graciela López
Elisa del Carmen Romero
Hospital Menem, Malvinas Argentinas, Province of Buenos Aires
Javier Nazr
Gladys Moreno
Hospital Carlos Gianantonio, San Isidro, Province of Buenos Aires
Blanca Cristina Senra
Inés González Bienes
MaríaLaura Sznitowsky
Hospital Erill, Escobar, Province of Buenos Aires
Horacio Cali
Hospital Alvarez, Autonomous City of Buenos Aires
M. Luisa Celadilla
Adriana Israilev
Hospital Argerich, Autonomous City of Buenos Aires
Ana Tocci
Karenith Santome
Hospital Durand, Autonomous City of Buenos Aires
Julio Falk
Noemí Nakayama
Hospital Fernández, Autonomous City of Buenos Aires
Ernesto Goldschmidt
Paula Molina
Hospital Penna, Autonomous City of Buenos Aires
Elena Cristiano
Hospital Piñero, Autonomous City of Buenos Aires
Mariana Panzitta
Gabriela Hernández
Claudia Epelbaun
Hospital Pirovano, Autonomous City of Buenos Aires
Alberto Capriata
Graciela Rodríguez
Hospital Ramos Mejía, Autonomous City of Buenos Aires
Rubén Bronberg
498 / Arch Argent Pediatr 2013;111(6):484-494 / Original article
Hospital Rivadavia, Autonomous City of Buenos Aires
Luis Somaruga
Alcira Oliva
Hospital Santojani, Autonomous City of Buenos Aires
Daniela Rottenberg
Valeria Castellano
Hospital Sardá, Autonomous City of Buenos Aires
Graciela Fernández
M. Carmen Arbones
Mónica Rittler
Hospital Vélez Sársfield, Autonomous City of Buenos Aires
Ramón Rodríguez
Mario Mardyks
Hospital San Juan Bautista, S.F. del Valle de Catamarca, Province of Catamarca
Inés Camacho
Marcos Toledo
Hospital Maternidad Kowalk, Río Cuarto, Province of Córdoba
Diana Portela
Paola Pía Allende
Hospital Río Cuarto, Río Cuarto, Province of Córdoba
María Laura Bonora
Nydia Berguío
Hospital Maternidad Nacional, Córdoba, Province of Córdoba
Yanina Dalsasso
Marcela del Valle Ogas
Hospital Maternidad Provincial, Córdoba, Province of Córdoba
Cynthia Sánchez Topic
Susana del Valle Ramaciotti
Hospital Materno Neonatal, Córdoba, Province of Córdoba
Raquel LucíaTorres
Marcela Beatriz Quaglia
Hospital Misericordia, Córdoba, Province of Córdoba
Andrea Paola Chirino Misissian
Débora Gurevich
Hospital José Vidal, Corrientes, Province of Corrientes
Maríadel Rosario Córdoba
Elsa Aguirre
Hospital Julio Perrando, Resistencia, Province of Chaco
Dina Juárez de Ribles
Andrea Lew
Hospital Regional de Comodoro Rivadavia, Comodoro Rivadavia, Province of Chubut
Maximiliano Medina Alarcón
Maríade los Angeles de Aro
Hospital Zonal Trelew, Trelew, Province of Chubut
Raúl Musante
Hospital Centenario, Gualeguaychú, Province of Entre Ríos
Margarita Otaegui
Carolina Corvalán
Noelia Romero
RENAC: National Registry of Congenital Anomalies in Argentina / 499
Hospital Rivadavia, Autonomous City of Buenos Aires
Luis Somaruga
Alcira Oliva
Hospital Santojani, Autonomous City of Buenos Aires
Daniela Rottenberg
Valeria Castellano
Hospital Sardá, Autonomous City of Buenos Aires
Graciela Fernández
M. Carmen Arbones
Mónica Rittler
Hospital Vélez Sársfield, Autonomous City of Buenos Aires
Ramón Rodríguez
Mario Mardyks
Hospital San Juan Bautista, S.F. del Valle de Catamarca, Province of Catamarca
Inés Camacho
Marcos Toledo
Hospital Maternidad Kowalk, Río Cuarto, Province of Córdoba
Diana Portela
Paola Pía Allende
Hospital Río Cuarto, Río Cuarto, Province of Córdoba
María Laura Bonora
Nydia Berguío
Hospital Maternidad Nacional, Córdoba, Province of Córdoba
Yanina Dalsasso
Marcela del Valle Ogas
Hospital Maternidad Provincial, Córdoba, Province of Córdoba
Cynthia Sánchez Topic
Susana del Valle Ramaciotti
Hospital Materno Neonatal, Córdoba, Province of Córdoba
Raquel LucíaTorres
Marcela Beatriz Quaglia
Hospital Misericordia, Córdoba, Province of Córdoba
Andrea Paola Chirino Misissian
Débora Gurevich
Hospital José Vidal, Corrientes, Province of Corrientes
Maríadel Rosario Córdoba
Elsa Aguirre
Hospital Julio Perrando, Resistencia, Province of Chaco
Dina Juárez de Ribles
Andrea Lew
Hospital Regional de Comodoro Rivadavia, Comodoro Rivadavia, Province of Chubut
Maximiliano Medina Alarcón
Maríade los Angeles de Aro
Hospital Zonal Trelew, Trelew, Province of Chubut
Raúl Musante
Hospital Centenario, Gualeguaychú, Province of Entre Ríos
Margarita Otaegui
Carolina Corvalán
Noelia Romero
Hospital Delicia Masvernat, Concordia, Province of Entre Ríos
Eugenia Fernanda Gauto
María Cecilia Arizabalo
Hospital San Roque, Paraná, Province of Entre Ríos
Mariel Bordenave
Mónica Ilardo
Hospital Urquiza, Concepción del Uruguay, Province of Entre Ríos
Adriana Gasparini
Adriana Reinoso
Hospital Madre y Niño, Formosa, Province of Formosa
Carina González
Felino Ruiz Díaz
Marilena Antinori
Hospital Pablo Soria, San Salvador de Jujuy, Province of Jujuy
Julia Flores
Claudia Carlos
Sonia Alavar
Hospital Gobernador Centeno, General Pico, Province of La Pampa
Alejandro Irrazábal
Hospital Lucio Molas, Santa Rosa, Province of La Pampa
Natalia Fatala
Susana Frutos
Silvina Re
Hospital de la Madre y el Niño de La Rioja (ex Vera Barros), La Rioja, Province of La Rioja
Soledad Carrizo del Moral
Susana Beatriz Garello
Hospital Lagomaggiore, Mendoza, Province of Mendoza
Cristina de Gaetano
Gabriela Torres
Hospital Paroissien, Mendoza, Province of Mendoza
Claudia Beatriz Pizarro
Gabriela Torres
Liliana Soler
Hospital Ramón Madariaga, Posadas, Province of Misiones
Maris Carlucci
Mónica Beatriz Dedieu
Mónica Kostecki
Hospital Castro Rendón, Neuquén, Province of Neuquén
Silvia Ávila
Eugenia Ponce Zaldúa
Luciana Fernández de Bon
Hospital Heller, Neuquén, Province of Neuquén
César Romero
Luciana Fernández de Bon
Hospital Francisco López Lima, General Roca, Province of Río Negro
Daniela Leimbgruber
Gladys Gutiérrez
Hospital Ramón Carrillo, Bariloche, Province of Río Negro
María Fabiana Tenreyro
500 / Arch Argent Pediatr 2013;111(6):484-494 / Original article
Hospital Público Materno Infantil, Salta, Province of Salta
Mariela Vilte
MaríaDolores Ruiz
Hospital San Vicente Paul, Orán, Province of Salta
Analía Inojosa
Alexandra Villareal
Franz Ancalle
Hospital Rawson, San Juan, Province of San Juan
Alejandra Sanz
Mirta Armesto
Silvia Mateos de Sarich
Hospital Complejo Sanitario San Luis, San Luis, Province of San Luis
Laura Espinosa
Mónica Menzio
Hospital Regional de Río Gallegos, Río Gallegos, Province of Santa Cruz
Alicia Susana Guanuco
Estela Cruz
Hospital Maternidad Martin, Rosario, Province of Santa Fe
Fabiola Contreras
Hilda Beatriz Fernández
Silvia Carbognani
Hospital Alejandro Gutiérrez, Venado Tuerto, Province of Santa Fe
Leonardo Andrés Fedre
Laura Mariño
Hospital Del Centenario, Rosario, Province of Santa Fe
Verónica Inés Cicao
Alejandro Rossi
Hospital Eva Perón, Rosario, Province of Santa Fe
Fernando Basualdo
Natalia Vázquez Parachú
Hospital Iturraspe, Santa Fe,Province of Santa Fe
Norma Domínguez
MaríaLaura Charvey
Hospital Jaime Ferré, Rafaela, Province of Santa Fe
Miriam Martínez
Claudia Villagran
Hospital O. Stuki de Rizzi, Reconquista, Province of Santa Fe
Dalila Soledad Agretti
Ana MaríaAlegre
Hospital Provincial de Rosario, Rosario, Province of Santa Fe
Verónica Willimburgh
Hospital Roque Sáenz Peña, Rosario, Province of Santa Fe
Gladis Terre
Griselda Arrastia
Hospital J. M. Cullen, Santa Fe,Province of Santa Fe
Laura Peralta
Hospital Ramón Carrillo, Santiago del Estero, Province of Santiago del Estero
Lidia Esther Padilla de Alvarez
Claudia Jugo
RENAC: National Registry of Congenital Anomalies in Argentina / 501
Hospital de Río Grande, Río Grande, Province of Tierra del Fuego
Eduardo Zunino
Alejandra Albanesi
Hospital Ushuaia, Ushuaia, Province of Tierra del Fuego
Sergio Nicolussi
Daniel Caffarone
Hospital Nuestra Señora de las Mercedes, S. M. de Tucumán, Province of Tucumán
César Saleme
Gabriela Díaz
Hospital Belascuain, Concepción, Province of Tucumán
Lorena González Arias
Hospital Nicolás Avellaneda, S. M. de Tucumán, Province of Tucumán
Claudia Montenegro
Graciela Gutiérrez
Verónica Otero
We would also like to thank the following physicians for their help: Jaime Lazovski, Guillermo
González Prieto, Silvia Báez Rocha, Liliana Alba, Ana Speranza, Lucrecia Manfredi, Carlos Guevelad,
Élida Marconi, who work at the National Ministry of Health. In addition, we would like to thank the
following physicians for their continuous guidance: Jorge López Camelo, Mónica Rittler and Eduardo
Castilla, from the ECLAMC, a ground-breaking registry in the region and worldwide.
Article
Background Congenital limb reduction defects (CLRDs) are missing or hypoplastic whole or part of limbs that occur in utero and cause significant functional impairment. This systematic review aims to describe the incidence of CLRDs published to date in the English literature. Methods A systematic review was performed using Ovid Medline, Ovid Embase, Web of Science, and Google Scholar in April 2021. Two independent reviewers performed title and abstract screening, full-text review, and data extraction. Conflicts were resolved by a third independent reviewer. The pooled incidence rate per 10,000 was calculated. Results Search results were performed on April 10, 2021. 2076 articles were screened, 288 studies underwent full-text review, and 100 papers were included for final data analysis. The average pooled incidence of CLRDs was 4.48/10,000 (95% confidence interval = 3.89–5.16) with the highest incidence in Western Asia and the lowest in Eastern Asia. There was a higher incidence of upper limbs, males, and left-sided defects. Incidence has decreased over time (−0.0103, 95% CI = −0.203–−0.003, P = 0.04). Conclusions The incidence of CLRDs published in the English literature to date was calculated, outlining the importance of screening, standardized classification system, and healthcare resource requirements.
Article
BACKGROUND AND OBJECTIVES Neural tube defects (NTDs) are an important cause of global morbidity worldwide. Well-planned global neurosurgery and public health efforts can aid vulnerable communities, but there is a need to elucidate the global burden of NTDs and identify regions without available data to better target interventions. METHODS A scoping review to quantify worldwide NTD prevalence using the PubMed/Medline and birth defects surveillance registries was conducted. Data published after January 1, 1990, encompassing prevalence values of at least the 2 most prevalent NTDs—spina bifida and encephalocele—were abstracted. Average NTD prevalence rates were aggregated by World Health Organization (WHO) region and World Bank classification, and differences were determined using the analysis of variance test. Differences in availability of nationally representative data by WHO region and World Bank classification were determined using χ ² tests. RESULTS This review captured 140 studies from a total of 93 of 194 WHO member countries. The percentage of countries within a geographic region with available NTD prevalence data was highest in the Eastern Mediterranean (EMR) (85.7%) and lowest in Africa (AFR) (31.3%). The NTD prevalence range was 0.9-269.6 per 10 000 births. Statistically significant differences in reported NTD prevalence rates existed by WHO Region ( P = .00027) and World Bank income level of study country ( P = .00193). Forty countries (43%) had conducted national-level studies assessing NTD prevalence. There was a statistically significant difference in the availability of nationally representative prevalence data depending on the WHO region ( P = .0081) and World Bank classification of study country ( P = .0017). CONCLUSION There is a gap in availability of NTD prevalence data worldwide, with many WHO member states lacking national-level NTD prevalence estimates. These findings highlight the need for greater NTD surveillance efforts to identify the countries with the greatest need for targeted global intervention.
Article
Objectives: To evaluate the incidence of hypoplastic left heart syndrome (HLHS) and the efficiency of the screening program using data from the Polish National Registry for Fetal Cardiac Anomalies. To investigate whether HLHS incident rates in Poland are seasonally variable. Methods: Data on 791 cases of HLHS from the Registry collected between 2004 and 2016 was analyzed. Results: The median gestational age for the 734 cases of HLHS detected was 23 weeks. Comparing the age at time of HLHS detection between 2004 and 2016, a decrease from 26 to 20.8 weeks was observed. We noted a rapid increase in HLHS incidence during the initial years of the Registry data, the annual percentage change during that period was 22.0% and this trend lasted until 2010. In the following years, the Registry became representative of the general population which has an estimated incidence of HLHS of 20.93 cases per 100 000 live births. We observed no clear seasonal patterns of HLHS incidence in our population. Conclusion: The Registry reached a plateau state in terms of diagnosing new cases of HLHS. No evidence of seasonality has been noted. The average gestational age of patients identified as having HLHS decreased significantly during the study period. This article is protected by copyright. All rights reserved.
Article
Background In Argentina, birth defects are a leading cause of infant deaths. In 2009, the National Network for Congenital Anomalies of Argentina (RENAC) was established as a hospital‐based surveillance system of major structural birth defects. To assess and enhance the system's data quality, we previously developed data quality indicators (DQI). Our aim was to evaluate quality indicators in RENAC. Methods We applied the DQI presented in a related publication to the 2016 RENAC data. Results Among the DQI of description, spina bifida coverage and talipes had the lowest results. Regarding prevalence of hypospadias, it was lower than the defined threshold. RENAC did not achieve the ascertainment threshold of a prevalence of 21.5 per 10,000 for critical congenital heart defects. There was a high ratio of spina bifida to anencephaly. Conclusions DQI provide a focus for improving quality, making decisions, and advocating for interventions. Examples include advocating for newborn screening of critical congenital heart defects with pulse oximetry; developing training programs for clinicians to improve the detection of isolated hypospadias; and developing visual tools and checklists to improve the completeness and accuracy of case description for spina bifida, talipes, and other major malformations. After the interventions, it is important to track the impact by measuring again the DQI.
Article
Background Quality control and improvement are a key part of the implementation of an effective surveillance program. Data quality indicators (DQI) are key tools but have not been widely used, especially in a low‐resource setting. Methods We developed a list of data quality indicators of birth defects surveillance. These DQI address ascertainment, description, coding, and classification. Results We developed 40 DQI that can be used widely to assess the quality of data relative to birth defects of major clinical and public health impact. Conclusions DQI have to be both comprehensive (e.g., assess all main surveillance processes) and practical (not require sophisticated or costly data elements), so that they can be used effectively in many different settings. We propose this list of DQI for use in surveillance program as a way to document the quality of the program; detect variations within and between programs, and support quality improvements.
Article
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Background Hydrocephalus is a debilitating disorder, affecting all age groups. Evaluation of its global epidemiology is required for healthcare planning and resource allocation. Objectives To define age-specific global prevalence and incidence of hydrocephalus. Methods Population-based studies reporting prevalence of hydrocephalus were identified (MEDLINE, EMBASE, Cochrane, and Google Scholar (1985–2017)). Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed. Two authors reviewed abstracts, full text articles and abstracted data. Metanalysis and meta-regressions were used to assess associations between key variables. Heterogeneity and publication bias were assessed. Main outcome of interest was hydrocephalus prevalence among pediatric (≤ 18 years), adults (19–64 years), and elderly (≥ 65) patients. Annual hydrocephalus incidence stratified by country income level and folate fortification requirements were obtained (2003–2014) from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Results Of 2,460 abstracts, 52 met review eligibility criteria (aggregate population 171,558,651). Mean hydrocephalus prevalence was 85/100,000 [95% CI 62, 116]. The prevalence was 88/100,000 [95% CI 72, 107] in pediatrics; 11/100,000 [95% CI 5, 25] in adults; and 175/100,000 [95% CI 67, 458] in the elderly. The ICBDSR-based incidence of hydrocephalus diagnosed at birth remained stable over 11 years: 81/100,000 [95% CI 69, 96]. A significantly lower incidence was identified in high-income countries. Conclusion This systematic review established age-specific global hydrocephalus prevalence. While high-income countries had a lower hydrocephalus incidence according to the ICBDSR registry, folate fortification status was not associated with incidence. Our findings may inform future healthcare resource allocation and study.
Article
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A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care.
Article
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Background: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. Methods: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). Results: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. Conclusion: The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc.
Article
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Background: We provide protocolized interdisciplinary follow-up to babies born with Esophageal Atresia (EA). There are few reports in Argentina about follow-up of EA patients. Objective: To describe outcomes in follow-up of EA patients at 1, 3 and 6 years old and to compare outcomes at age 1 with those at age 6. Methods: Prospective, longitudinal, analytic study of the cohort of babies born with EA, admitted to the follow-up program from 11/01/03 to 10/31/14. Follow-up includes: growth (weight > 10th centile, WHO), neurology-psychomotor development, audiology, vision, genetic, mental health, surgical reintervention, phonostomatology, language, pulmonology, re-hospitalization for clinical causes, lost to follow-up. Outcomes were described at age 1, 3 and 6. We included all EA patients who had reached age 1 at the start of this study. Results: 27 babies were admitted; 30% had long-gap EA; 18% presented VACTERL association; 23 children met inclusion criteria. Genetics was assessed in 18 newborns (78%); a chromosomal map was performed in 11 babies; 3 had an abnormal karyotype. Mental health: 5/14 of the assessed children showed problems. Phonostomatology: 11 newborns checked (6 required treatment, 4 recovered at age 1). Pulmonologist evaluated 18 babies (7 with recurrent wheezing, 6 with moderate tracheomalacia). Gastroenterology and endoscopy: 80% presented gastroesophageal reflux (GER) grade 3-4, and 50% showed a pathologic pHmetry. Lost to follow-up: age 1, 2 (8%); age 3, 3 (17%); age 6, 3 (23%). Normal outcomes observed are the following. Age 1 – growth: 81%; neurologic-psychomotor developmental index (NPDI): 76%; audiology: 95%; vision: 85%; language: 62%; re-hospitalization for clinical causes: 38%; surgical reinterventions: 47%. Age 3 – growth: 78%; NPDI: 50%; audiology: 93%; vision: 93%; language: 43%; re-hospitalization: 35%; surgical reinterventions: 14%. Age 6 – growth: 50%; NPDI: 30%; audiology: 90%; vision: 40%; language: 50%; re-hospitalization for clinical causes: 0; surgical reinterventions: 7%. Conclusions: Patients with EA are at risk for long-term morbidity and impairments. Long-term follow-up should be warranted for them.
Article
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OBJECTIVE: To describe the medical genetics services in Argentina, in order to help organize a network to coordinate those services, decrease inequity in access to them, and promote the comprehensive development of medical genetics in the country. METHODS: In April-August 2004 a survey was conducted of centers providing medical genetics services in Argentina, looking at their human resources, diagnostic procedures, the services that patients use, and funding. The survey covered service centers that conduct genetic assessment, cytogenetic diagnostic testing, molecular biology testing, and biochemical testing to detect birth defects or genetic disorders. Centers that were devoted exclusively to research were not surveyed. RESULTS: A total of 134 centers fulfilled the selection criteria for the survey; 84 of them were private services, and the other 50 were publicly managed services, at universities and hospitals. The 50 public facilities had a total of 67 physicians who had studied clinical genetics, plus 133 non-medical laboratory professionals. A majority of the 50 centers performed clinical and cytogenetic diagnoses, with a smaller number performing molecular, biochemical, and prenatal diagnoses. More than 70% of the centers and human resources were located in an area that includes the city of Buenos Aires, the province of Buenos Aires, and the nearby north-central provinces of Córdoba and Santa Fe. The 50 public centers were found mainly in large cities; 10 of the country's 23 provinces had no public services. CONCLUSIONS: There is a great geographic disparity in the availability of resources as well as wide variability in the diagnostic procedures that are provided in the different service centers. The unequal distribution of the facilities is an organizational problem that will require the application of policies to guarantee minimum services for people in all regions of the country, as well as access to more complex diagnostic procedures.
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The purpose of evaluating public health surveillance systems is to ensure that problems of public health importance are being monitored efficiently and effectively. CDC's Guidelines for Evaluating Surveillance Systems are being updated to address the need for a) the integration of surveillance and health information systems, b) the establishment of data standards, c) the electronic exchange of health data, and d) changes in the objectives of public health surveillance to facilitate the response of public health to emerging health threats (e.g., new diseases). This report provides updated guidelines for evaluating surveillance systems based on CDC's Framework for Program Evaluation in Public Health, research and discussion of concerns related to public health surveillance systems, and comments received from the public health community. The guidelines in this report describe many tasks and related activities that can be applied to public health surveillance systems.
Article
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The impacts of birth defects in the society have substantially increased over the last decades in countries where the reduction of infant mortality by other causes has occurred. Birth defects surveillance represents an important source of information for planning X health policies and resource allocation. In this article, we discuss the potential utilizations, methodology options, limitations, and policy issues related to birth defects surveillance. Also, the birth defects surveillance programs from US and Brazil are described and compared as an illustration of the development of surveillance systems in two countries with clearly dissimilar health systems and resource allocation for birth defects programs. Finally, we propose measures for the improvement of the existing systems in both countries focusing at the utilization of preexisting resources.
Article
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Resumen de artículo referido en la cita bibliográfica. Original en Castellano. Objetivo: Reflexionar sobre el uso de los Sistemas de Información en Salud (SIS) y su incidencia en la disminución de las desigualdades en la atención en salud de la gestión local. Departamento de Educación de los Estados Unidos, Título VI, TICFIA (Fondo para la Innovación y Colaboración Tecnológica para Acceder a Información en el Exterior), Universidad de Nuevo México/Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud (CUCS)
Article
Malformations are found in 2%-3% of all infants born in the United States. An additional equal number of infants are later found to have malformations that were not obvious at birth. The third edition of Human Malformations and Related Anomalies is a comprehensive compilation of significant human malformations authored by 40 authorities in the field of genetics and dysmorphology. It introduces a new format that allows easy access to essential information on each major human malformation. The abbreviated text on clinical presentation, associated anomalies, treatment, and prognosis is combined with the liberal use of line drawings, photographs, radiographs, and other images to give a succinct composite view of each malformation. The anatomical and molecular embryology is set out in a consistent manner in the introduction to each organ system. An appendix provides a synopsis of the 500 syndromes that are most commonly associated with structural birth defects. The volume utilizes a blend of time-tested terminology and the nomenclature recommended by an international group of clinical geneticists and dysmorphologists. Where available, advances in the understanding of the causes of malformations acquired through the new and emerging genetic and genomic technologies are recognized.
Article
Definition: ECLAMC ('Estudio Colaborativo Latino Americano de Malformaciones Congenitas') is a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Latin-American hospitals, using a case-control methodological approach. It is a voluntary agreement among professionals lacking institutional base as well as designated budgets. ECLAMC has been usually funded by research-funding agencies rather than public health ministries. The National Research Councils of Argentina and Brazil have been the main sources of support during its 36 years of existence. Since vital and health statistics are unreliable in South America, ECLAMC collects all the information required for the denominators in a hospital-based sample of births. ECLAMC can be defined as a continental network of persons interested in research and prevention of birth defects. History and evolution: From the institutional point of view, ECLAMC has had headquarters in diverse centers of Argentina and Brazil, but always as an independent research project, without a defined administrative link. ECLAMC began operating in 1967, as an investigation limited to the city of Buenos Aires, Argentina, and it gradually expanded until covering all the 10 countries of South America as well as Costa Rica and the Dominican Republic. Even though ECLAMC has maintained essentially the same original experimental design since 1967, due to the data accumulated by the program, the increasing experience as well as the development in science, technical modifications occurred including a DNA bank and a fully informatized data handling system. Since 1974 ECLAMC has been a founder member of the International Clearinghouse for Birth Defects Monitoring Systems; since 1994 a WHO Collaborating Center for the Prevention of Congenital Malformations, and since 2000 a collaborating member of the NIH Global Netwok for Women's and Children's Health Research. Methodology: The maternity hospital network of ECLAMC examines around 200,000 births per year. All major and minor anomalies diagnosed at birth in infants weighing 500 g or more are registered according to a manual of procedures. The next non-malformed baby of the same sex born in the same hospital is selected as a control subject for each case. Thus, a one-to-one healthy control group matched by sex, time and place of birth is obtained. As a system of epidemic surveillance, ECLAMC systematically observes the fluctuations in the frequencies of different malformations and, in the case of an alarm for a probable epidemic of a given malformation, at a given moment, and given area, it acts to identify its cause. As termination of pregnancy has severe legal restrictions in South America, prevention of birth defects should concentrate on primary, preconceptional and tertiary measures. Tertiary measures aim to avoid complications of the affected patients from the medical, psychological, and social standpoints.
Article
As part of EUROCAT's surveillance of congenital anomalies in Europe, a statistical monitoring system has been developed to detect recent clusters or long-term (10 year) time trends. The purpose of this article is to describe the system for the identification and investigation of 10-year time trends, conceived as a "screening" tool ultimately leading to the identification of trends which may be due to changing teratogenic factors. The EUROCAT database consists of all cases of congenital anomalies including livebirths, fetal deaths from 20 weeks gestational age, and terminations of pregnancy for fetal anomaly. Monitoring of 10-year trends is performed for each registry for each of 96 non-independent EUROCAT congenital anomaly subgroups, while Pan-Europe analysis combines data from all registries. The monitoring results are reviewed, prioritized according to a prioritization strategy, and communicated to registries for investigation. Twenty-one registries covering over 4 million births, from 1999 to 2008, were included in monitoring in 2010. Significant increasing trends were detected for abdominal wall anomalies, gastroschisis, hypospadias, Trisomy 18 and renal dysplasia in the Pan-Europe analysis while 68 increasing trends were identified in individual registries. A decreasing trend was detected in over one-third of anomaly subgroups in the Pan-Europe analysis, and 16.9% of individual registry tests. Registry preliminary investigations indicated that many trends are due to changes in data quality, ascertainment, screening, or diagnostic methods. Some trends are inevitably chance phenomena related to multiple testing, while others seem to represent real and continuing change needing further investigation and response by regional/national public health authorities.
Article
The aim of the present investigation was to search for a reduction in birth prevalence estimates of 52 selected types of congenital anomalies, associated with folic acid fortification programs in Chile, Argentina, and Brazil. The material included 3,347,559 total births in 77 hospitals of the three countries during the 1982-2007 period: 596,704 births (17 hospitals) in Chile, 1,643,341 (41 hospitals) in Argentina, and 1,107,514 (19 hospitals) in Brazil. We compared pre- and post-fortification rates within each hospital and the resulting Prevalence Rate Ratios (PRRs) were pooled by country. Statistically significant reductions in birth prevalence estimates after fortification were observed for neural tube defects (NTDs), septal heart defects, transverse limb deficiencies, and subluxation of the hip. However, only the reduction of NTDs appeared to be associated with folic acid fortification and not due to other factors, because of its consistency among the three countries, as well as with previously published reports, and its strong statistical significance. Among the NTDs, the maximum prevalence reduction was observed for isolated cephalic (cervical-thoracic) spina bifida, followed by caudal (lumbo-sacral) spina bifida, anencephaly, and cephalocele. This observation suggests etiologic and pathogenetic heterogeneity among different levels of spina bifida, as well as among different NTD subtypes. We concluded that food fortification with folic acid prevents NTDs but not other types of congenital anomalies.