PRELIMINARE MULTICENTRE STUDY FOR INFECTIOUS
DISEASES, EVALUATING A NEW PRODUCT FOR NEONATAL
AND PRENATAL SCREENING USING DBS SAMPLES IN
DIFFERENT REGIONS OF BRAZIL
Claudio A. Sampaio Filho
To use one specific product with multiplex format to evaluate the frequency of infectious
diseases * in 5 different regions in Brazil using DBS ( Dried Blood Spots ) or Guthrie
* Panel of Infectious Diseases for Newborn Screening :
What is Brazil doing concerning Infectious Disease in Newborn Screening ?
- National Neonatal Screening Program (PNTN) does not include Infectious Diseases.
-Many studies in Brazil have been revealing a high frequency of Infectious diseases
using Neonatal and Prenatal Samples.
-Minas Gerais State have implemented Congenital Toxoplasmosis in newborn screening
and other states have been studying the implementation.
-5 States have implemented Prenatal Screening Programs using DBS and the same
structure and organization of Neonatal Screening Programs.
Materials and Methods
NeoMAP Infectious Diseases :
•xMAP Technology ( Multiplex analysis )
•40.000 samples collected from 5 different regions in Brazil
•Analysis processed by the software of the equipment.
•Intra well controls have been used to verify the presence of the sample, addition of
reagents, interfering factors and the incubation times. Samples classified by the
software as inappropriate were not included in the final data.
Selected Reference Centers
APAE-RIO ( Rio de Janeiro, RJ )
HCFMRP ( Ribeirão Preto, SP )
APAE-SC ( São Caetano do Sul, SP )
APAE-AN ( Anápolis, GO )
APAE-CG ( Campo Grande, MS )
PREF. MUN. DE POA ( Porto Alegre, RS )
UFRGS ( Porto Alegre, RS )
CTN/LAB. NOBEL ( Porto Alegre, RS )
APAE-MACEIO ( Maceió, AL )
APAE-GOIANIA ( Goiânia, GO )
%of Positives in Total Population - Highest frequencies
TOXOPLASMOSE SYPHILIS HERPES I-II
%of Positive cases in total population –lower frequencies
Table of results –General Data –Southeast
Samples Pregnant Newborns Total
N 9.588 11.108 20.696
From DST / AIDS : The study performed by the Program of Protection of Pregnant Women (
PPG )of the State of Sergipe demontrates the relation between Syphilis and miscariage. In a
study with 39.807 samples between 2005-2007, 7.538 women have reported at least one
miscariage. The assays have revealed 35%of womem are positive for Syphilis.
A study presented by the Federal University of the State of Paraiba has
demonstrated very important numbers that are related to Infectious Disease in Brazil.
The results show important changes in the rate of mortality related to infectious
diseases, mainly for North and Northeast Regions. Therefore, these states still
present the highest mortality rates in the country. In terms of age distribution, the rate
is more evident in groups with less than 1 years old.
Doenças infecciosas e parasitárias no Brasil: uma década de transição
Paes N.A.; e Silva L.A.A.
Rev Panam Salud Publica/Pan Am J Public Health 6(2), 1999
In Brazil Infectious Diseases reveals important frequency.
If compared with PKU, CH, Hbs the numbers are much more evident.
We have demonstrated the possibilities to include Infectious Disease to Newborn
Screening National Program using a multiplex product and eliminating potential
problems related to sample comsume, reducing labor time and increasing the
Minister of Heath and Brazilian Society for Newborn Screening are discussing the
introduction of Mass Spec method, Galactosemia, CAH, Biotinidase Deficiency, and
G6PD Deficiency as potential new screening to be part of the national program, but
as we have seen here Infectious disease must be included and considered as high