ArticlePDF Available

Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18

Authors:

Abstract and Figures

Objectives: To evaluate parental decisions following a prenatal diagnosis of trisomy 13 (T13) or trisomy 18 (T18), prenatal counseling received, and pregnancy outcomes. Study design: Single-center, retrospective cohort study of families with a prenatal diagnosis of T13 or T18 from 2000 to 2016. Results: Out of 152 pregnancies, 55% were terminated. Twenty percent chose induction with palliative care, 20% chose expectant management, 2% chose full interventions, and 3% were lost to follow-up. Counseling was based on initial parental goals, but most women were given options besides termination. Women who chose expectant management had a live birth in 50% of the cases. Women who chose neonatal interventions had a live birth in 100% of the cases, but there were no long-term survivors. Conclusions: The majority of women who continue their pregnancy after a fetal diagnosis of T13 or T18 desire expectant management with palliative care. A live birth can be expected at least half of the time.
Content may be subject to copyright.
Journal of Perinatology
https://doi.org/10.1038/s41372-018-0107-x
ARTICLE
Prenatal counseling and parental decision-making following a fetal
diagnosis of trisomy 13 or 18
Phoebe Winn1Krishna Acharya1Erika Peterson2Steven Leuthner1
Received: 7 November 2017 / Revised: 6 February 2018 / Accepted: 6 March 2018
© Nature America, Inc., part of Springer Nature 2018
Abstract
Objectives To evaluate parental decisions following a prenatal diagnosis of trisomy 13 (T13) or trisomy 18 (T18), prenatal
counseling received, and pregnancy outcomes.
Study design Single-center, retrospective cohort study of families with a prenatal diagnosis of T13 or T18 from 2000 to
2016.
Results Out of 152 pregnancies, 55% were terminated. Twenty percent chose induction with palliative care, 20% chose
expectant management, 2% chose full interventions, and 3% were lost to follow-up. Counseling was based on initial parental
goals, but most women were given options besides termination. Women who chose expectant management had a live birth in
50% of the cases. Women who chose neonatal interventions had a live birth in 100% of the cases, but there were no long-
term survivors.
Conclusions The majority of women who continue their pregnancy after a fetal diagnosis of T13 or T18 desire expectant
management with palliative care. A live birth can be expected at least half of the time.
Introduction
Trisomy 13 (T13) and 18 (T18) are chromosomal anomalies
that have historically been considered lethal [1,2]. Over the
past 10 years, this has been called into question by physi-
cians, ethicists, and families [3,4]. The literature has
focused on one of two areas: the commonly described
negative parental experience of prenatal and neonatal
counseling [5], and the extent of medical and surgical
interventions that children with these conditions receive,
their survival, and neurodevelopmental outcomes [615].
Importantly, the majority of pregnancies with T13 or T18
are terminated [1618]. Data regarding parental goals and
feelings when they choose termination of pregnancy, and
factors such as gestational age at diagnosis, or presence of
other anomalies that may affect that decision, are limited.
Similarly, many families choose to pursue expectant man-
agement with the hopes of a live-born child and the
opportunity to have some memories of their child, but may
not want intensive medical interventions [5]. For families
who are considering expectant management, there are lim-
ited data that health-care providers can use for counseling
on the probability of having a live-born baby vs. the risks of
stillbirth, fetal demise, or a preterm delivery [16,17,19].
In addition, the details about counseling information that
is provided to families with these diagnoses at the prenatal
visit is not well described, and is concentrated toward
families who wanted more interventions [20], particularly in
light of recent literature that informs that the outcomes for
these infants are not uniformly lethal [14,2123]. Common
messages are that there is better survival than historical data,
and that the mortality rate may be a self-fullling medical
prophecy [24,25]. The argument is based on the premise
that prenatal counseling may be limited, directive, biased,
and therefore somewhat predetermined. Additionally, this
argument might suggest that more parents may choose a
different prenatal and neonatal course if offered all options
including full neonatal intervention. While these viewpoints
*Steven Leuthner
sleuthne@mcw.edu
1Department of Pediatrics, Medical College of Wisconsin,
Milwaukee, WI, USA
2Department of Obstetrics and Gynecology, Medical College of
Wisconsin, Milwaukee, WI, USA
Electronic supplementary material The online version of this article
(https://doi.org/10.1038/s41372-018-0107-x) contains supplementary
material, which is available to authorized users.
1234567890();,:
1234567890();,:
are important to hear, it must be acknowledged that they
come with their own inherent bias, and there are limited
data thus far looking at a prenatal cohort of patients and
exploring their decision trajectories following the initial
diagnosis.
Our objectives were to explore all T13/18 diagnosis at
our center and: (1) describe parental goals following a
prenatal diagnosis of T13 or 18, (2) describe aspects of
prenatal counseling that were provided, (3) describe par-
ental decisions made following counseling about the diag-
nosis, (4) explore trends over time in referrals, parental
decisions made, and counseling options provided, and (5)
describe perinatal outcomes for families who chose options
other than termination of pregnancy.
Methods
We conducted a single-center retrospective cohort study of
mothers who were seen at Froedtert Memorial Hospital
(FMH) obstetric clinic or referred to the Fetal Concerns
Center of Wisconsin (FCCW) following a prenatal diag-
nosis of T13 or T18 from 20002016. FMH is an academic
medical center in afliation with the Medical College of
Wisconsin (MCW). The FCCW is a multi-disciplinary
referral center for women whose pregnancies are compli-
cated by concerns of fetal abnormalities. This study was
approved by the Froedtert and Medical College of Wis-
consins institutional review board.
In order to include all pregnant women who received a
prenatal diagnosis of T13 or T18 from 2000 to 2016, we
used two data sources: (1) all women who had received a
positive fetal karyotype for T13 or T18 from the Wisconsin
Diagnostic Laboratory, a central laboratory for FMH
(mosaic T13 or T18 were excluded), and (2) women who
had a primary referral diagnosis of T13 or T18 in the
clinical database maintained by the FCCW. There was some
overlap between these two data sources, and all unique
patients were retained in the subsequent data analysis.
We manually reviewed all medical records for women
with a fetal diagnosis of T13 or T18 and their infants (when
applicable) using relevant electronic health records. We
included all pregnant women seen at the FMH or the FCCW
at least once even if delivery took place at another center.
Pregnant women with a karyotype done at Wisconsin
Diagnostic laboratory but who were never seen by a FMH
doctor or the FCCW were excluded. For mothers, both
outpatient and inpatient charts, physician and nursing notes
including labor and delivery records, were reviewed as
available. For infants, records from the newborn nursery
and neonatal intensive care unit (NICU) were reviewed,
depending on where the infant was admitted following
birth.
The following data were extracted from the medical charts:
maternal age, marital status, religious afliation (if docu-
mented), gestational age at the time of diagnosis, method of
diagnosis (maternal serum screening, amniocentesis, chorionic
villus sampling, other); ultrasound ndings; fetal gender, health-
care member who delivered the initial diagnosis, and perinatal
outcome. If the pregnancy was not terminated, the mode of
delivery and perinatal outcomes were obtained. For live born
infants, birth weight, gestational age at birth, and discharge
outcomes were extracted. For infants admitted to the NICU, an
internal, NICU database was used for information regarding
length of stay and discharge outcome. For infants admitted to
another unit in the hospital (e.g., pediatric ICU or cardiac ICU),
relevant records were reviewed. For infants discharged home,
follow-up records were reviewed when available.
Finally, we manually reviewed all notes by FCCW nurse
coordinators, genetic counselors, and physicians in order to
understand perceived parental goals at the time of initial
visit, counseling, and options provided to the family (e.g.,
termination of pregnancy vs. expectant management vs. full
interventions), and nal choice made by the family. The
perceived initial goals were based on the initial intake
assessment by an experienced fetal nurse coordinator. Due
to the highly variable, open-ended nature of counseling, we
created groups based on common themes. For example,
counseling options were grouped into termination-focused,
palliative-care focused, intervention-focused, expectant
management-focused. All charts were reviewed by P.W.
For families who chose options other than termination,
charts were reviewed a second time by K.A. or S.L. in order
to ensure consistency.
Continuous variables are presented as medians with
interquartile range. Categorical variables are presented as
proportions of total. Wilcoxon rank-sum test, KruskalWallis
test, or χ2-tests were used for comparing differences between
groups as appropriate. MantelHaenzscel tests were used to
evaluate trends in proportion over time. Stata Statistical
Software: Release 14. College Station, TX: StataCorp LP was
used for data analyses.
Results
From 2000 to 2016, there were 152 pregnant mothers who
received a prenatal diagnosis of T13 or T18 and were seen
at the FMH. Of those, 88 patients (58%) were referred to the
FCCW.
Demographic characteristics
Table 1describes the characteristics of the patient popula-
tion. There were 118 cases of T18, and 34 cases of T13. The
median maternal age was 34. A majority of the mothers
P. Winn et al.
were married (79%) and identied as Christian (57%). Most
cases were singleton gestation (95%). An ultrasound
abnormality was found in all but two cases. The majority of
mothers had a conrmatory diagnostic test such as chor-
ionic villus sampling or amniocentesis.
Parental goals, counseling, and nal decisions made
Table 2outlines parental goals at the initial visit, specialists
seen by families, documented options offered during
counseling, and nal choices made regarding continuation
vs. termination of pregnancy. Many women (41%) came in
wanting to terminate the pregnancy and may have met
providers at the FCCW for clarication or support, such as a
FCC nurse or other specialist. Counseling was tailored to
initial parent goals: when women came in wanting to ter-
minate, counseling was focused on termination options, but
other options were discussed a third of the time when initial
goals were seen as unclear. When women were unsure
(32%) or wanted to continue the pregnancy with palliative
care (23%) or all interventions (3%), they were more likely
to be referred to the FCCW, and to meet with a FCC nurse
and a neonatologist. Counseling then was more inclusive of
the range of available options. Women who came in
wanting to terminate the pregnancy chose that option almost
all the time. Women who came in unsure usually chose
termination or early induction of labor, with a third
choosing expectant management, but none chose interven-
tions. Women who hoped to continue the pregnancy as far
as possible were more likely to choose expectant manage-
ment, but a third chose not to continue the pregnancy fol-
lowing counseling, and none chose interventions. Women
who presented wanting everything done often chose all
interventions after counseling. Of note, no family chose full
intervention unless they came with that motivation.
Counseling provided
Supplemental Information 1 shows information that was
documented as being included in counseling. Obstetricians
usually documented only survival information regarding
pregnancy outcomes. Maternalfetal medicine specialist
(M.F.M.) documented survival, adding the contributions of
the comorbid ultrasound ndings and maternal risks. Neo-
natologists and genetic counselors usually documented
information about survival, neurodevelopmental outcomes,
and burdens or quality of life for survivors, often in light of
the comorbid conditions. Most health-care professionals
documented the term lethalwhen referring to neonatal
outcomes. When statistics were documented, they were not
consistent between providers. For example, some obste-
tricians cited a 010% live birth rate, whereas other provi-
ders documented anywhere from a 5090% chance of
children dying before the rst year of life. Documentation
about neurodevelopmental outcomes included information
such as children with these diagnoses would not be
Table 1 Demographic and clinical characteristics of pregnant mothers
with a fetal diagnosis of T13 or T18
T13 or T18 (n=
152)
T13 34
T18 118
Maternal age, median (IQR) 34.5 (2938) years
Marital status
% married 122 (79%)
Gestational age at diagnosis, n(%) 18 (1521)aweeks
Fetal gender, n (%)
Male 62 (41%)
Unknown 15 (10%)
Religion, n (%)
Christian 86 (57%)
Non-Christian other (Hindu, Muslim, Mormon,
Jehovahs witness)
7 (5%)
No religion 21 (14%)
Unknown or missing 38 (25%)
Gestation, n (%)
Singleton gestation 145 (95%)
Twin gestation 1 (0.6%)
Triplet gestation 6 (4%)
Gravidity, n (%)
Primigravid 32 (21%)
Number with one or more living children, n
(%)
101 (66%)
Diagnostic tests done, n (%)
Cell-free DNA 21 (15%)
Chorionic villus sampling 32 (21%)
Amniocentesis 104 (68%)
Ultrasound 129 (85%)
Quad screen 21 (14%)
At least one abnormality on ultrasound, n (%)
Yes 150 (99%)
Unknown/not documented 2 (1%)
Additional complicating condition presentb97 (63%)
aGestational age at diagnosis has six missing values
bAn additional complicating condition was dened as a condition that
would signicantly impact neonatal survival or long-term prognosis in
addition to the diagnosis of T13 or T18. The following were included:
abdominal wall defect, complex heart defect, dandy-walker malforma-
tion, congenital diaphragmatic hernia, holoprosencephaly, hydrops
fetalis, hypoplastic left heart syndrome, neural tube defect, micro-
cephaly, tetralogy of fallot, pleural effusion, ascites, AV canal, Chiari
malformation, cyclopia, bladder outlet obstruction, hydrocephalus,
pulmonary stenosis, coarctation of aorta, esophageal atresia/TEF,
pulmonary hypoplasia
Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18
Table 2 Parental goals, counseling options offered, and choices made following a prenatal diagnosis of trisomy 13 or 18 (n=152)
Parent goals at initial visit Specialists seen N(%) Options offered N(%) Choices made N(%)
Terminate pregnancy OB/perinatologist 62 (100%) Termination/early
induction
40 (65%) Termination 38 (95%)
62 (41%) FCC nurse 25 (40%) Induction with palliative care 2 (5%)
Genetic counselor 19 (31%)
Neonatologist 3 (5%) All options offered 19 (31%) Termination 14 (74%)
Induction with palliative care 3 (16%)
Expectant management with
palliative care
2 (11%)
Unknown/not
documented
3 (5%) Termination 3 (100%)
Unsure OB/perinatologist 47 (96%) All options offered 32 (65%) Induction with palliative care 13 (41%)
49 (32%) FCC nurse 26 (53%) Termination 11 (34%)
Genetic counselor 21 (43%) Expectant management with
palliative care
7 (22%)
Neonatologist 18 (37%)
Other specialists 1 (2%) Unknown 1 (3%)
Termination 13 (27%) Termination 12 (92%)
Expectant management with
palliative care
1 (8%)
Palliative-care focused 2 (4%) Expectant management with
palliative care
1 (50%)
Unknown 1 (50%)
Unknown/not
documented
2 (4%) Termination 1 (50%)
Unknown 1 (50%)
Continue pregnancy as
long as
OB/perinatologist 24 (77%) All options offered 28 (90%) Expectant management with
palliative care
17 (61%)
possible FCC nurse 27 (87%)
31 (20%) Genetic counselor 13 (42%) Induction with palliative care 9 (32%)
Neonatologist 23 (74%) Termination 1 (4%)
Other specialists 7 (22%) Unknown 1 (4%)
Palliative-care focused 2 (7%) Expectant management with
palliative care
2 (100%)
Intervention-focused 1 (3%) Expectant management with
palliative care
1 (100%)
Induce with palliative
care
OB/perinatologist 5 (100%) All options offered 4 (80%) Induction with palliative care 3 (75%)
5 (3%) FCC nurse 5 (100%)
Genetic counselor 2 (40%)
Neonatologist 4 (80%)
Termination 1 (25%)
Termination 1 (20%) Induction with palliative care 1 (100%)
Want everything done OB/perinatologist 5 (100%) All options offered 3 (60%) All interventions 2 (67%)
5 (3%) FCC nurse 5 (100%) Induction with palliative care 1 (33%)
Genetic counselor 3 (60%) Intervention-focused 2 (40%) All interventions 2 (100%)
Neonatologist 5 (100%)
Other specialists 3 (60%)
OB obstetrician, FCC Fetal Concerns Center
P. Winn et al.
expected to develop beyond a 612-month-old stage, but
that they would respond to touch and would know their own
family members, and that walking and talking were usually
limited to children who were mosaic. Documentation about
comorbid health conditions included information about
additional ultrasound ndings and how these might con-
tribute to the prognosis of the child. These conversations
were primarily with neonatologists and MFMs. Content
included the possibilities for interventions with specic
anomalies such as cardiac surgery for heart malformations
or shunt placement for hydrocephalus, but mostly, these
were used as further evidence of the poor prognosis of the
fetus. Discussions about the impact on families focused
mainly on risk of recurrence of T13 or T18 with a future
pregnancy, risk to the mothers future pregnancies in the
case of a C-section, and the kind of nancial and emotional
support the family might need regardless of the choices they
made.
Parental values and nal pregnancy decision
Figure 1shows nal parental decision following counseling,
and recurring themes that emerged for each decision cate-
gory. Parents who terminated their pregnancy cited reasons
such as poor outcomes, inability to carry a fetus with a low
chance of survival and hoping to try again. Documented
reasons why parents chose early induction and palliative
care was that they either would have terminated if they had
found out the diagnosis earlier, because of insurance delays
or refusals, or that they were against termination, but psy-
chologically found it difcult to continue toward a term
pregnancy with a baby they recognized might die inside
them. One parent described the decision-making as being
on a death penalty jury. Parents who chose expectant
management cited being against termination of pregnancy
and not wanting to make that decision, yet appreciating not
wanting their baby to suffer, or live with a burdensome or
poor quality of life. Additionally, they cited the hopes of
meeting their baby alive. Parents who wanted full inter-
ventions cited reasons such as not wanting to discriminate
against their baby, wanting to give their baby any possible
chance of survival, and/or their belief in the possibility of a
miracle, even appreciating and describing this chance as a
parting of the Red Sea.
Trends over time
Supplemental Information 2 shows the number of women
with a fetal diagnosis of T13 or T18 who were referred to
the FCCW (n=88 out of total 152) as a proportion of total
Fig. 1 Final parental decisions after a prenatal diagnosis of trisomy 13 or 18 (n=152)
Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18
referrals to the FCCW during the same time period. There
was an increase in the number of patients seen with a fetal
diagnosis of T13 or T18 and a corresponding increase in the
total number of referrals to FCCW over time, with 40% of
patients being seen in the last 5 years of the study period
(20122016). However, the proportion of T13 or T18
referrals was not different over time. Trends over time for
each parental decision category (e.g., interventions vs. ter-
mination vs. expectant management) were not statistically
signicant nor were counseling options offered to families,
however all families who wanted interventions were seen
within the last 2 years of the study period. Forty-ve percent
of the families who chose expectant management were seen
within the last 4 years of the study period. Fewer families
(18% vs. 36%) chose induction of labor with palliative care
in 20122016 compared to 20002005, which may reect
changes in state abortion laws that impact options [26].
Pregnancy outcomes
Table 3compares pregnancy characteristics among those
who chose termination vs. other options, as well as out-
comes of pregnancies that were not terminated. The cohort
that chose termination was diagnosed at a younger
gestational age (17 weeks vs. 20 weeks). Maternal age,
marital status and religious afliation were not signicantly
different among groups. For families who chose expectant
management, an in utero fetal demise occurred in 33% of
cases. For those who delivered vaginally, a live birth
occurred in at least 50% of the cases. For those who had a
C-section, a live birth occurred in 87% of the cases. For the
infants born alive after expectant management, 5 out of 12
infants died on the same day, and the remainder survived
for 18 days after birth. Families who chose neonatal
interventions were more likely to deliver via C-section, and
all children were born alive and admitted to the NICU.
Three out of 4 babies died while in the hospital on days 1, 6,
and 205, respectively. One infant was discharged home but
subsequently died at 14 months of age. All 4 infants
received mechanical ventilation; the two infants who sur-
vived beyond a week received a G-tube. The infant who
died on day 6 had a CDH repair on day 2. The infant who
died on day 205 had cardiac surgery and a tracheostomy.
The infant who died at 14 months of age received respira-
tory support as any late preterm infant might, had no major
structural anomalies and required no surgical interventions
other than the G-Tube, yet had many hospital admissions
throughout her life.
Table 3 Outcomes of pregnancies following a fetal diagnosis of T13 or T18 (n=148)
Termination (n=
81)
Induction with
palliative care (n=32)
Expectant management with
palliative care (n=31)
Intervention (n=
4)
Pvalue
Gestational age at diagnosis
(median (IQR)
17 (1319) 20 (18230) weeks 20 (1523) weeks 21 (1421) weeks 0.0001
Maternal age, median (IQR) 35 (2938) years 33 (2639) years 35 (2939) years 35 (2938) 0.700
Presence of an additional
complicating conditiona
40 (49%) 27 (84%) 24 (77%) 3 (75%) 0.001
Primigravid mother 11 (14%) 12 (37%) 7 (23%) 1 (25%) 0.045
Other living children present 55 (68%) 18 (56%) 23 (74%) 2 (50%) 0.411
Married 64 (79%) 21 (66%) 29 (94%) 4 (100%) 0.346
Religious afliation identied 40 (49%) 21 (65%) 24 (77%) 2 (50%) 0.097
No religious afliation 15 (18%) 2 (6%) 3 (10%) 0 (0%)
Pregnancy outcome (n =62)
Live born 17/31 (55%) 12/27 (44%) 4/4 (100%)b
Stillborn (death during labor) 13/31 (42%) 6/27 (22%)
IUFD (death before onset of
labor)
1/31 (3%) 9/27 (33%)
For live born infants
Gestational age at birth 29 (2535) weeks 37 (3638) weeks 33 (3037) weeks
Of those delivered vaginally,
% live born
15/28 (54%) 5/10 (50%) 1/1 (100%)
aAn additional complicating condition was dened as a condition that would signicantly impact neonatal survival or long-term prognosis in
addition to the diagnosis of T13 or T18. The following were included: abdominal wall defect, complex heart defect, dandy-walker malformation,
congenital diaphragmatic hernia, holoprosencephaly, hydrops fetalis, hypoplastic left heart syndrome, neural tube defect, microcephaly, tetralogy
of fallot, pleural effusion, ascites, AV canal, Chiari malformation, cyclopia, bladder outlet obstruction, hydrocephalus, pulmonary stenosis,
coarctation of aorta, esophageal atresia/TEF, pulmonary hypoplasia
bAll infants who received interventions have subsequently died (age at death ranged from 1 day to 14 months)
P. Winn et al.
Discussion
This is the rst study to represent a large cohort of women
with a prenatal diagnosis of T13 or T18, and describes their
initial goals following the diagnosis, prenatal counseling
received, and nal decisions and pregnancy outcomes. Our
major conclusions are as follows:
1. The majority of women with a prenatal diagnosis of
T13 or T18 come in to a regional perinatal center
knowing how they would like to proceed with the
pregnancy, with termination being the most common
choice. The next largest group is those that choose
expectant management with the hopes of a live born
child yet choosing palliative care as the neonatal
treatment.
2. Documentation of prenatal counseling usually
includes all options, but often focuses on information
about survival, with neonatologists documenting more
data on the life of those that survive.
3. For those who choose expectant management with
palliative care, we provide some data on the chances
of having a live born baby with different modes of
delivery. For women who choose this option, our data
show that a live birth can be expected in 50% of cases
during a vaginal delivery and an 87% chance if a C-
section is performed.
4. Neonatal interventions are chosen by a small minority
of women, and typically their choice is clear prior to
team counseling.
In a high-risk perinatal clinic, a majority of women with
a prenatal diagnosis of T13 or T18 arrive knowing how they
want to proceed with the pregnancy. Based on our cohort
and similar to prior studies, over half of these women
choose termination of pregnancy, especially when the
diagnosis was made before 20 weeks of pregnancy [2729].
Common documented reasons reported by women who
choose to terminate the pregnancy were the psychological
burden of carrying a pregnancy with known poor outcomes
and the hopes for a healthy child in the future. Another one-
fth of women in our cohort chose early induction with
palliative care. These women were often diagnosed at or
after 20 weeksgestation when termination may be harder
to obtain, and were more likely seen prior to 2015, after
which there was a change in abortion laws that limit this
option in the state of Wisconsin [26]. Families must now
choose early termination (<22 weeks) in-state, termination
out-of-state (if >22 weeks), or expectant management.
Some women who chose early induction hoped to see and
hold their baby. Importantly, while some women desired
opportunities for memory making, not all wanted memen-
tos. Many stated that continuation of the pregnancy would
be too hard emotionally. Women who wanted to continue
the pregnancy commonly chose expectant management. All
of these women had hopes of meeting their baby alive.
While some took on maternal risks of a C-section, all
wanted palliative care as the main neonatal intervention.
At our institution, we found that prenatal counseling
often included all options but was also tailored to parent
goals. If a family arrived knowing they wanted to terminate
the pregnancy, they were not actively counseled on options
for interventions or expectant management. Conversely, if a
family initially stated that termination was not an option,
they were counseled on different alternatives. The content
on survival, disease or organ specic outcomes, and neu-
rodevelopmental outcome had some variation. Whether this
was patient or provider-driven based on the meeting, and
what impact it had on decision-making cannot be deter-
mined from this study. Indeed, an area of practice
improvement for physicians is providing accurate counsel-
ing information to families in an empathetic and balanced
way [30]. For example, women carrying a fetus with a
diagnosis of T13 or T18 are often told that their child will
die in utero or during the birthing process [5,31]. Our data
suggests that this is not accurate in at least half of the cases
of pregnancy continuation. When physicians do not know
the data or fail to honestly acknowledge to families that a
range of outcomes is possible, they either create distrust in
any providersability to predict outcome or set up the
patient to consider their child as being outside the norm,
either of which may have other far-reaching consequences.
On the other hand, some families may come in already
having set their minds on one option (usually termination
and rarely, interventions), and may not be interested in
hearing about other options. An important area of future
research would be to understand the familiesperspectives
on the information they received at counseling, and how or
whether it affected their decision-making.
For families whose common goal is expectant manage-
ment and a live born child, there are limited previously
published data on the outcomes of continuation of preg-
nancy and the chances of live birth vs. the risks of stillbirth
or fetal demise [16,17,19]. Our study lls an important gap
in knowledge about these pregnancies that can help guide
prenatal counseling. If the family goal is a live born baby,
this is achieved at least half of the time in women who
choose expectant management, with two-thirds of the
pregnancies being carried to full-term. In one-third of the
cases of expectant management there is in utero fetal
demise, and in 20% of cases there is a stillbirth during labor.
Yet this is very different data than the 010% chance of live
birth that some parents note as a common obstetric coun-
seling statistic. Once the pregnant woman reaches term,
there is a 50% chance of a live birth with vaginal delivery,
and for women who undergo a C-section delivery, this rate
is higher still, albeit with more risks to the mother and
Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18
potential risk to future pregnancies. When early induction
with palliative care is chosen, a live birth can be expected
over half of the time, but the risk of stillbirth in labor is
greater, perhaps due to fetal intolerance of labor at a
younger gestational age. While decisions are not straight-
forward for families, these numbers may be helpful in set-
ting realistic expectations for the pregnancy. They can also
be valuable in not overstating the need for a C-section in
order to have a live birth.
Recent literature has focused largely on the outcomes of
infants with T13 or 18 who receive medical and surgical
interventions during the neonatal period and beyond [614,
22,32]. These studies answer important questions for all
families who do not choose termination. For the small
minority that might choose life-sustaining measures for
their children, it provides them the best information for the
most informed choice [33]. For those families who are
considering expectant management and palliative care, it
provides them the information to make a choice based on
burdens of known outcomes. In our cohort, there were
women who choose either termination or palliative care
once knowing this information. Whether this helps in the
longer-term grief process is also an area of future research.
As the debate surrounding provision of interventions for
children with T13 or T18 continues, we must acknowledge
that this debate addresses the fewer than 5% of families who
choose interventions, and we raise caution that the pendu-
lum ought not to swing from limiting parental choice
because of lethality to parents losing their voice in the
direction of mandated care.
In conclusion, the majority of families choose termina-
tion of pregnancy after a fetal diagnosis of T13 or T18,
however many others continue the pregnancy with goals of
a live born child but not necessarily medical interventions,
while few request full intervention. Prenatal counseling is
tailored to parental goals, and thus may not always include
all possible outcomes. At the same time, families are offered
multiple options a majority of the time, which seems to
contradict the literature that surveys parents alone. Physi-
cians should be sensitive to the difcult decisions that all
families with this diagnosis face and individualize coun-
seling information to support families in alignment with
familiesgoals and values.
Limitations
Data presented in this study should be interpreted in light of
several limitations. We studied women who were referred to
a large, tertiary, maternalfetal center, and this sample does
not include women who may have been only cared for by
community obstetricians. Thus, our population may over-
estimate the percentage of families who wanted to continue
a pregnancy. At the same time, we do not know the
accuracy of what families are counseled by their community
obstetricians, thus questioning fully informed decision-
making. This was a retrospective study which relied on
interpretation of medical documentation in order to assess
perceived parental goals and information provided at
counseling. Although multiple notes (besides physician
documentation) were assessed to collect accurate data,
medical documentation may not be completely reective of
what was said at counseling, or what the parents perceived
they were told.
In spite of these limitations, this is the rst study that
presents data from a large number of women with a prenatal
fetal diagnosis of T13 or T18 and explores the range of
decisions made by women with such pregnancies, which in
our opinion, presents a more balanced view of the con-
temporary scenario. Importantly, it provides perinatal outcome
data of pregnancies for women who chose expectant man-
agement with palliative care, thus providing at least some
expectations of obstetrical outcome that can be available for
counseling purposes. Our next steps will be to conduct follow-
up qualitative interviews of a proportion of these families to
obtain rst-hand accounts of the parental perception of
counseling information provided, and how we can improve
counseling for families who are faced with these diagnoses.
Compliance with ethical standards
Conict of interest The authors declare that they have no conict of
interest.
References
1. Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH.
A new trisomic syndrome. Lancet. 1960;1:78790.
2. Carter PE, Pearn JH, Bell J, Martin N, Anderson NG. Survival in
trisomy 18. Life tables for use in genetic counselling and clinical
paediatrics. Clin Genet. 1985;27:5961.
3. Wilkinson D, De Crespigny L, Xas V. Ethical language and
decision-making for prenatally diagnosed lethal malformations.
Semin Fetal Neonatal Med. 2014;19:30611.
4. Thiele P, Berg SF, Farlow B. More than a diagnosis. Acta Pae-
diatr. 2013;102:12732.
5. Janvier A, Farlow B, Wilfond BS. The experience of families with
children with trisomy 13 and 18 in social networks. Pediatrics.
2012;130:2938.
6. Acharya K, Leuthner S, Clark R, Nghiem-Rao T, Spitzer A,
Lagatta J. Major anomalies and birth-weight inuence NICU
interventions and mortality in infants with trisomy 13 or 18. J
Perinatol. 2017;37:4206.
7. Graham EM, Bradley SM, Shirali GS, Hills CB, Atz AM,
Pediatric Cardiac Care Consortium. Effectiveness of cardiac sur-
gery in trisomies 13 and 18 (from the Pediatric Cardiac Care
Consortium). Am J Cardiol. 2004;93:8013.
8. Ishitsuka K, Matsui H, Michihata N, Fushimi K, Nakamura T,
Yasunaga H. Medical procedures and outcomes of Japanese
patients with trisomy 18 or trisomy 13: analysis of a nationwide
administrative database of hospitalized patients. Am J Med Genet
Part A. 2015;167:181621.
P. Winn et al.
9. Janvier A, Watkins A. Medical interventions for children with
trisomy 13 and 18: what is the value of a short disabled life? Acta
Paediatr. 2013;102:11127.
10. Kaneko Y, Kobayashi J, Yamamoto Y, Yoda H, Kanetaka Y,
Nakajima Y, et al. Intensive cardiac management in patients with
trisomy 13 or trisomy 18. Am J Med Genet A.
2008;146A:137280.
11. Kosho T, Nakamura T, Kawame H, Baba A, Tamura M,
Fukushima Y. Neonatal management of trisomy 18: clinical
details of 24 patients receiving intensive treatment. Am J Med
Genet A. 2006;140:93744.
12. Lin HY, Lin SP, Chen YJ, Hsu CH, Kao HA, Chen MR, et al.
Clinical characteristics and survival of trisomy 13 in a medical
center in Taiwan, 1985-2004. Pediatr Int. 2007;49:3806.
13. Maeda J, Yamagishi H, Furutani Y, Kamisago M, Waragai T,
Oana S, et al. The impact of cardiac surgery in patients with
trisomy 18 and trisomy 13 in Japan. Am J Med Genet A.
2011;155A:26416.
14. Nelson KE, Hexem KR, Feudtner C. Inpatient hospital care of
children with trisomy 13 and trisomy 18 in the United States.
Pediatrics. 2012;129:86976.
15. Sibiude J, Gavard L, Floch-Tudal C, Mandelbrot L. Perinatal care
and outcome of fetuses with trisomies 13 and 18 following a
parental decision not to terminate the pregnancy. Fetal Diagn
Ther. 2011;29:2337.
16. Houlihan OA, O'Donoghue K. The natural history of pregnancies
with a diagnosis of trisomy 18 or trisomy 13; a retrospective case
series. BMC Pregnancy Childbirth. 2013;13:209
17. Lakovschek IC, Streubel B, Ulm B. Natural outcome of trisomy
13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med
Genet A. 2011;155A:262633.
18. Marttala J, Peuhkurinen S, Ranta JK, Laitinen P, Kokkonen HL,
Honkasalo T, et al. Screening and outcome of chromosomal
abnormalities other than trisomy 21 in Northern Finland. Acta
Obstet Gynecol Scand. 2011;90:8859.
19. Barry SC, Walsh CA, Burke AL, McParland P, McAuliffe FM,
Morrison JJ. Natural history of fetal trisomy 13 after prenatal
diagnosis. Am J Med Genet Part A. 2015;167:14750.
20. Guon J, Wilfond BS, Farlow B, Brazg T, Janvier A. Our children
are not a diagnosis: the experience of parents who continue their
pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J
Med Genet A. 2014;164:30818.
21. Bruns D, Campbell E. Twentytwo survivors over the age of 1
year with full trisomy 18: presenting and current medical condi-
tions. Am J Med Genet Part A. 2014;164:6109.
22. Bruns D. Erring on the side of life: children with rare trisomy
conditions, medical interventions and quality of life. J Genet Disor
Genet Rep. 2013;2:15.
23. Tsukada K, Imataka G, Suzumura H, Arisaka O. Better prognosis
in newborns with trisomy 13 who received intensive treatments: a
retrospective study of 16 patients. Cell Biochem Biophys.
2012;63:1918.
24. Wilkinson DJ. Antenatal diagnosis of trisomy 18, harm and par-
ental choice. J Med Ethics. 2010;36:6445.
25. Koogler TK, Wilfond BS, Ross LF. Lethal language, lethal
decisions. Hastings Cent Rep. 2003;33:3741.
26. Wisconsin statutes: maternal and child health, chapter 253. 2017.
https://docs.legis.wisconsin.gov/statutes/statutes/253/107.
27. Parker M, Budd J, Draper E, Young I. Trisomy 13 and trisomy 18
in a dened population: epidemiological, genetic and prenatal
observations. Prenat Diagn. 2003;23:85660.
28. Verp MS, Bombard AT, Simpson JL, Elias S, Reynolds JF, Hall
JG. Parental decision following prenatal diagnosis of fetal chro-
mosome abnormality. Am J Med Genet Part A. 1988;29:61322.
29. Patterson J, Taylor G, Smith M, Dotters-Katz S, Davis AM, Price
W. Transitions in care for infants with trisomy 13 or 18. Am J
Perinatol. 2017;34:88794.
30. Carey JC. Perspectives on the care and management of infants
with trisomy 18 and trisomy 13: striving for balance. Curr Opin
Pediatr. 2012;24:6728.
31. Wilkinson D, Crespigny L, Lees C, Savulescu J, Thiele P, Tran T,
et al. Perinatal management of trisomy 18: a survey of obste-
tricians in Australia, New Zealand and the UK. Prenat Diagn.
2014;34:429.
32. Hsiao CC, Tsao LY, Chen HN, Chiu HY, Chang WC. Changing
clinical presentations and survival pattern in trisomy 18. Pediatr
Neonatol. 2009;50:14751.
33. Kosiv KA, Gossett JM, Bai S, Collins RT II. Congenital heart
surgery on in-hospital mortality in trisomy 13 and 18. Pediatrics.
2017;140. 10.1542/peds.2017-0772, Epub 2017 Oct 18.
Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18
... 10,11 There is significant variability in the choices families make regarding prenatal and postnatal care and the medical care delivered by providers following a diagnosis of T13 or T18. [12][13][14] Some families choose to continue the pregnancy, with most hoping to meet their child alive. After birth, some choose to focus on the comfort of their child and the time they have available to spend together as a family. ...
... The total birth prevalence for T18 was 3.76 per 10,000 livebirths and the prevalence among livebirths was 1.86 per 10,000 livebirths. The mean maternal age was 33 years (range , and the mean gravida was 3 (range [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. Most mothers identified as Caucasian (79%), with complete demographic data outlined in Table 1. ...
Preprint
Full-text available
Objectives To identify factors associated with adverse prenatal, perinatal and postnatal outcomes, and determine the utilization medical care for fetuses & infants with trisomy 13 (T13) and trisomy (T18). Study Design This population-based retrospective cohort study included all prenatal and postnatal diagnoses of T13 or T18 in the Greater Cincinnati area from 1/1/12-12/31/18. Overall survival, survival to hospital discharge, approach to medical management, and maternal, fetal and neonatal characteristics are analyzed. Results 124 pregnancies (125 fetuses) were identified, which resulted in 72 liveborn infants. Male fetal sex and hydrops were associated with a higher rate of spontaneous loss. The median length of survival was 7 days (95% CI, 0-18 days) and 29 days (95% CI, 2-115 days), for infants with T13 and T18, respectively. Of the 27 infants who were alive at 1 month of age, 14 (52%) were alive at 1 year of age. Only the trisomy type, chosen goals of care (comfort care), and extremely low birthweight were associated with overall length of survival. A high degree of variability existed in the use of medical services, with 28% of infants undergoing at least one surgical procedure and some children requiring repeated (up to 29) or prolonged hospitalization (> 1 year). Conclusions Although many infants with T13 or T18 did not survive past the first week of life, up to 25% of infants lived for more than one year. Length of survival for an individual infant cannot be easily predicted, and surviving infants have high health care utilization throughout their lifespan.
... Both T13 and T18 are associated with anomalies that can be emergently life threatening, but not all infants with T13 or T18 have these anomalies, and this makes caring for these infants in the immediate newborn period complex. Some infants do not require many neonatal interventions and survive, some survive after receiving interventions, and some die despite potentially life-sustaining medical or surgical interventions [9]. What is less well-described in the literature is a comparison of the outcomes and predictors of mortality among infants based on the level of medical and/or surgical interventions received. ...
... This cohort does not encapsulate infants who were cared for in newborn nurseries or who died in the delivery room. Prior studies show that fewer than 5% of parents who receive a prenatal diagnosis of T13 or T18 choose to receive intensive medical interventions in the NICU; most choose to terminate the pregnancy or to deliver with a plan for comfort care [9]. We cannot tell from our data the families' goals for NICU The number of infants transferred out (n = 48) is included in the denominator for percentages. ...
Article
Full-text available
To examine characteristics and outcomes of T18 and T13 infants receiving intensive surgical and medical treatment compared to those receiving non-intensive treatment in NICUs. Retrospective cohort of infants in the Children’s Hospitals National Consortium (CHNC) from 2010 to 2016 categorized into three groups by treatment received: surgical, intensive medical, or non-intensive. Among 467 infants admitted, 62% received intensive medical treatment; 27% received surgical treatment. The most common surgery was a gastrostomy tube. Survival in infants who received surgeries was 51%; intensive medical treatment was 30%, and non-intensive treatment was 72%. Infants receiving surgeries spent more time in the NICU and were more likely to receive oxygen and feeding support at discharge. Infants with T13 or T18 at CHNC NICUs represent a select group for whom parents may have desired more intensive treatment. Survival to NICU discharge was possible, and surviving infants had a longer hospital stay and needed more discharge supports.
... One father described how he and his partner were told, even after deciding to continue with their pregnancy, that they should terminate because they needed to consider their other children and it would be better for the family as a whole. This despite the recommended best practice that healthcare practitioners should adopt a nondirectional counseling approach with parents after a prenatal diagnosis [9]. ...
... Once a diagnosis of trisomy is suspected and/or confirmed, further fetal imaging such as fetal magnetic resonance imaging or echocardiogram may diagnose other anomalies. This information can help the family and providers develop a pregnancy plan or postnatal plan of care, which may range from comfort care to full resuscitation (Andrews et al., 2016;Brosco & Feudtner, 2017;Winn, Acharya, Peterson, & Leuthner, 2018). ...
Article
Children with trisomy 13 and 18 (previously deemed “incompatible with life”) are living longer, warranting a comprehensive overview of their unique comorbidities and complex care needs. This Review Article provides a summation of the recent literature, informed by the study team's Interdisciplinary Trisomy Translational Program consisting of representatives from: cardiology, cardiothoracic surgery, neonatology, otolaryngology, intensive care, neurology, social work, chaplaincy, nursing, and palliative care. Medical interventions are discussed in the context of decisional‐paradigms and whole‐family considerations. The communication format, educational endeavors, and lessons learned from the study team's interdisciplinary care processes are shared with recognition of the potential for replication and implementation in other care settings.
Article
Objectives To identify factors associated with prenatal, perinatal, and postnatal outcomes, and determine medical care utilization for fetuses and infants with trisomy 13 (T13) and trisomy (T18). Study design This population-based retrospective cohort study included all prenatal and postnatal diagnoses of T13 or T18 in the greater Cincinnati area from 1/1/12-12/31/18. Overall survival, survival to hospital discharge, medical management, and maternal, fetal and neonatal characteristics are analyzed. Results 124 pregnancies (125 fetuses) were identified, which resulted in 72 liveborn infants. Male fetal sex and hydrops were associated with a higher rate of spontaneous loss. The median length of survival was 7 and 29 days, for infants with T13 and T18, respectively. Of the 27 infants alive at one month of age, 13 (48%) were alive at one year of age. Only trisomy type (T13), goals of care (comfort care), and extremely low birthweight were associated with lower survival. A high degree of variability existed in the use of medical services, with 28% of infants undergoing at least one surgical procedure and some children requiring repeated (up to 29) or prolonged (>1 year) hospitalizations. Conclusions Although many infants with T13 or T18 did not survive past the first week of life, nearly 20% lived for more than one year with varying degrees of medical support. Length of survival for an infant cannot be easily predicted, and surviving infants have high health care utilization throughout their lifespans.
Article
Identified by the eponym “Edwards’ Syndrome,” trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. The three-step evaluation includes first trimester screening for fetal aneuploidy using a combination of maternal age, fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A; followed by the research for fragments of fetal DNA in maternal blood; and, finally, invasive techniques leave to the established diagnosis. Starting with the first trimester scan, selected ultrasound findings should be investigated to define not only the impact of the genetic problem on the fetus, but also to address the prenatal counseling. Previous series underline that T18 is not uniformly lethal. An active dialogue on the choices in the management of infants with T18 has emerged, sustained by the transition from the comfort care to the intervention attitude. Survival rates for individuals with supposedly fatal conditions have increased. In this novel scenario, an ad hoc counseling is pivotal. To support it, a comparative analysis by pictorial assays between ultrasound and autopsy findings could be beneficial. We provide an illustrative tool from a clinical case managed in early second trimester, with the purpose to strive a balanced approach in the hard choice faced by couples of fetuses with T18.
Article
Objectives When parents are facing a life-limiting fetal condition (LLFC), decision making about prenatal and neonatal care is very stressful. To participate in successful shared decision making, interdisciplinary care teams need to understand factors that parents consider and the process by which they make decisions about care of their baby. Methods This study reports on findings about parental decision making from a larger longitudinal, naturalistic study of parents’ experiences of continuing pregnancy with an LLFC. Mothers and fathers over 18 were interviewed in person, on phone or via video, twice during pregnancy and twice after birth and death. Transcripts were professionally transcribed and verified. Data were analysed with iterative coding and theme identification, using within-case and cross-case comparison. Results Thirty parents (16 mothers, 13 fathers, 1 lesbian partner) from multiple US states and a range of racial/ethnic backgrounds were interviewed. Parents’ experience with decision making was difficult, stressful and time-sensitive. They described a three-phase process: (1) identifying the decision to be made, (2) conducting a risk–benefit analysis to weigh objective medical information and subjective factors (values and spirituality, impact on self, partner, baby and the other children) and (3) making a decision. Parents considered diagnostic and prognostic certainty, likelihood of a good outcome and avoidance of suffering and regrets. Conclusion For shared-decision making, healthcare providers must discuss objective medical information as well as recognise parents’ subjective values and priorities. This study expands on the literature on parental decision making around the numerous types of decisions after LLFC, informing obstetrics, neonatology and palliative care.
Article
Objective This study aimed to examine maternal outcomes of ongoing pregnancies complicated by fetal life-limiting conditions. Study design This was a retrospective matched cohort study of women with a diagnosis of fetal life-limiting condition between 2010 and 2018 in a single academic center. Cases were matched to controls (women who had normal fetal anatomic survey) according to year of delivery, body mass index, and parity in a 1:4 ratio. Bivariable and multivariable analyses were performed to compare the prevalence of the primary composite outcome, which included any one of the following: preeclampsia, gestational diabetes, cesarean delivery, third and fourth degree laceration, postpartum hemorrhage, blood transfusion, endometritis or wound infection, maternal intensive care unit admission, hysterectomy and maternal death, between cases and controls. Results During the study period, we found 101 cases that met inclusion criteria, matched to 404 controls. The rate of the composite maternal outcome did not differ between the two groups (39.6 vs. 38.9%, p = 0.948). For individual outcomes, women with diagnosis of fetal life-limiting condition had higher rates of blood transfusion (2.0 vs. 0%, p = 0.005) and longer length of the first stage of labor (median of 12 [6.8–22.0] hours vs. 6.6 [3.9–11.0] hours; p < 0.001). In a multivariable analysis, first stage of labor continued to be longer by an average of 6.48 hours among women with a diagnosis of fetal life-limiting condition compared with controls. Conclusion After controlling for confounding factors, except a longer first stage of labor, women diagnosed with fetal life-limiting conditions who continued the pregnancy did not have a higher rate of adverse maternal outcomes. Key Points
Article
Full-text available
DNA copy-number variants (CNVs) account for approximately 300 Mb of sequence variation in the normal human genome. Significant numbers of pathogenic CNVs contribute towards human genetic disorders. Recent studies suggest a higher diagnostic and clinical significance of low-pass genome sequencing (LP-GS) compared to microarrays (CMA). The performance metrics of the 5X LP-GS was compared to CMA to validate a low-cost and high throughput method. LP-GS test performed on 409 samples (including 78 validation and 331 clinical) were evaluated using American College of Medical Genetics and Genomics guidelines. The CNV accuracy, precision, specificity and sensitivity were calculated to be 100% for all previously characterized CNVs by CMA. Samples (n=6) run at both ∼30X-GS and ∼5X-GS (LP-GS) average depth detected a concordance of 89.43-91.8% and 77.42-89.86% for overall SNVs and indels, respectively. In the 331 clinical samples; 17.2% each were classified as pathogenic/ likely pathogenic, and uncertain clinical significance, respectively. Additionally, several cases with pathogenic CNVs were detected that were missed by CMA. This study demonstrates that LP-GS (5X-GS) was able to reliably detect AOH, microdeletion/ microduplication syndromes, and intragenic CNVs with higher coverage and resolution over the genome. Due to lower cost, higher resolution and greater sensitivity of this test, our study in combination with other reports could be used in an evidence-based review by professional societies to recommend replacing CMA's.
Chapter
Perinatal palliative care (PPC) birth planning is not simply a task or form to be completed prior to delivery. It is an opportunity for parents to define their goals for their baby’s care, goals that will guide decision-making and care planning for the remainder of the pregnancy, delivery, and the neonatal period. An interdisciplinary team led by a care coordinator facilitates individualized and relationship-based care and the development of a written care plan. Programs that acknowledge the importance and challenges of this work need to support the care team through adequate staffing and resources, continuing education and training, and opportunities for self-care.
Article
Full-text available
Objective: To describe neonatal intensive care unit (NICU) medical interventions and NICU mortality by birth weight and major anomaly types for infants with trisomy 13 (T13) or 18 (T18). Study design: Retrospective cohort analysis of infants with T13 or T18 from 2005 to 2012 in the Pediatrix Medical Group. We classified infants into three groups by associated anomaly type: neonatal surgical, non-neonatal surgical and minor. Outcomes were NICU medical interventions and mortality. Results: 841 infants were included from 186 NICUs. NICU mortality varied widely by anomaly type and birth weight, from 70% of infants <1500 g with neonatal surgical anomalies to 31% of infants ⩾2500 g with minor anomalies. Infants ⩾1500 g without a neonatal surgical anomaly comprised 66% of infants admitted to the NICU; they had the lowest rates of NICU medical interventions and NICU mortality. Conclusions: Risk stratification by anomaly type and birth weight may help provide more accurate family counseling for infants with T13 and T18.Journal of Perinatology advance online publication, 12 January 2017; doi:10.1038/jp.2016.245.
Article
Full-text available
In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as ‘lethal’ or as ‘incompatible with life’. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated ‘lethal’ reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of ‘futility’. We recommend avoiding the term ‘lethal’ and suggest that counseling should focus on salient prognostic features instead. For conditions with a high chance of early death or profound impairment in survivors despite treatment, perinatal and neonatal palliative care would be ethical. However, active obstetric and neonatal management, if desired, may also sometimes be appropriate.
Article
Full-text available
Trisomy 18 (T18) and trisomy 13 (T13) are the second and third commonest autosomal aneuploidy syndromes respectively. While specific aspects of affected pregnancies have been documented in the literature, few studies document the overall natural history of the trisomies. This study aimed to examine the natural history (including diagnosis, pregnancy outcome, complications and survival) of T18 and T13 pregnancies in a setting where termination of pregnancy for fetal abnormality is not available. Cases were identified using birth registers, labour ward records, annual reports, medical records, ultrasound reports and reports from prenatal genetic testing. All identified T18 and T13 pregnancies in the study region from 2001 to 2012 were included. Individual chart reviews were performed for each case. Data were analysed using SPSS Version 20. Forty-six T18 and twenty-four T13 pregnancies were identified. Most T18 cases (65%) were diagnosed prenatally, while only one third (33%) of T13 cases were prenatally diagnosed. Only three T18 pregnancies and one T13 pregnancy were electively terminated. A proportion of undiagnosed infants were delivered by emergency caesarean section. 48% (T18) and 46% (T13) infants survived following birth, for a median of 1.5 days (T18) and 7 days (T13). One T13 infant is currently alive over one year of age. This large series provides information for professionals and women regarding the natural histories of trisomies 18 and 13. These pregnancies can go undiagnosed antenatally without routine anomaly scanning. While many fetuses die in-utero, postnatal survival is possible.
Article
Full-text available
To explore the attitudes of obstetricians in Australia, New Zealand and the UK towards prenatally diagnosed trisomy 18 (T18). Obstetricians were contacted by email and invited to participate in an anonymous electronic survey. Survey responses were obtained from 1018/3717 (27%) practicing obstetricians/gynaecologists. Most (60%) had managed a case of T18 in the last 2 years. Eighty-five per cent believed that T18 was a 'lethal malformation', though 38% expected at least half of liveborn infants to survive for more than 1 week. Twenty-one per cent indicated that a vegetative existence was the best developmental outcome for surviving children. In a case of antenatally diagnosed T18, 95% of obstetricians would provide a mother with the option of termination. If requested, ninety-nine per cent would provide maternal-focused obstetric care (aimed at maternal wellbeing rather than fetal survival), while 80% would provide fetal-oriented obstetric care (to maximise fetal survival). Twenty-eight per cent would never discuss the option of caesarean; 21% would always discuss this option. Management options, attitudes and knowledge of T18 were associated with location, practice type, gender and religion of obstetricians. There is variability in obstetricians' attitudes towards T18, with significant implications for management of affected pregnancies. This article is protected by copyright. All rights reserved.
Article
Background and objectives: Congenital heart disease (CHD) is common in trisomy 13 (T13) and trisomy 18 (T18), but surgical repair has not been offered in most centers. Data on outcomes of congenital heart surgery (CHS) for T13 and T18 are lacking. We sought to determine the impact of CHS on in-hospital mortality in T13 and T18. Methods: Data from the 2004 to 2015 Pediatric Health Information System database were used to identify inpatients with T13 or T18 and CHD. Data were restricted to newborns with T13 or T18 admitted at ≤14 days of age. Hospital readmissions were examined to analyze longer-term in-hospital mortality. In-hospital mortality and length of stay were compared between infants with and without CHD and with and without CHS. Results: The study cohort included 1020 infants with T18 and 648 infants with T13. CHD was present in 91% of infants with T18 and 86% of infants with T13. CHS was performed in 7% of each group. In-hospital mortality was decreased in those who underwent CHS (64% lower in T18 [P <.001]; 45% lower in T13 [P = .003]) and remained decreased throughout the 24 months of follow-up. In-hospital mortality was decreased in infants with higher weight, female sex, and older age at admission. Conclusions: CHS is associated with decreased in-hospital mortality in T18 and T13. These results suggest CHS may be beneficial in select cases.
Article
Background and Objectives The scope of interventions offered to infants with trisomy 13 (T13) or trisomy 18 (T18) is increasing. We describe the spectrum of care provided, highlighting transitions in care for individual patients. Patients and Methods This is a single-center, retrospective cohort of infants with T13 or T18 born between 2004 and 2015. Initial care was classified as comfort care or intervention using prenatal counseling notes. Transitions in care were identified in the medical record. Results In this study, 25 infants were divided into two groups based on their care: neonates who experienced no transition in care and neonates who experienced at least one transition. Eleven neonates experienced no transition in care with 10 receiving comfort care. Fourteen neonates experienced at least one transition: three transitioned from comfort care to intervention and 11 from intervention to comfort care. The three initially provided comfort care were discharged home with hospice and readmitted. Among the 11 cases who transitioned from intervention to comfort care, 9 transitioned during the birth hospitalization, 6 had no prenatal suspicion for T13 or T18, and 5 experienced elective withdrawal of intensive care. Conclusion The spectrum of care for infants with T13 or T18 illustrates the need for individualized counseling that is on-going, goal directed, collaborative, and responsive.
Article
The choices of aggressive treatment for trisomy 18 (T18) and trisomy 13 (T13) remain controversial. Here, we describe the current medical procedures and outcomes of patients with T18 and T13 from a nationwide administrative database of hospitalized patients in Japan. We used the database to identify eligible patients with T18 (n = 438) and T13 (n = 133) who were first admitted to one of 200 hospitals between July 2010 and March 2013. Patients were divided into admission at day <7 (early neonatal) and admission at day ≥7 (late neonatal and post neonatal) groups, and we described the medical intervention and status at discharge for each group. In the day <7 groups, surgical interventions were performed for 56 (19.9%) T18 patients and 22 (34.4%) T13 patients, including pulmonary artery banding, and procedures for esophageal atresia and omphalocele. None received intracardiac surgery. The rate of patients discharged to home was higher in the day ≥7 groups than the day <7 groups (T18: 72.6 vs. 38.8%; T13: 73.9 vs. 21.9%, respectively). Our data show that a substantial number of patients with trisomy received surgery and were then discharged home, but, of these, a considerable number required home medical care. This included home oxygen therapy, home mechanical ventilation, and tube feeding. These findings will be useful to clinicians or families who care for patients with T18 and T13. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
Article
There are currently limited data describing the natural history and outcome for fetal trisomy 13 diagnosed prenatally. The aim of this study was to evaluate the fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 13, and a parental decision for continuation of the pregnancy. To this end, the obstetric and neonatal outcome data for such pregnancies, diagnosed at two referral Fetal Medicine Centers, were retrospectively obtained and examined. During the study period, there were 45 cases of trisomy 13 diagnosed at both units, of which 26 (56%) continued with the pregnancy to its natural outcome. There were 12 intrauterine deaths in the cohort resulting in a rate of 46.2% of intrauterine lethality. Conversely, the live birth rate was 53.8%. For infants born alive, neonatal death on day 1 of life occurred in 78.6% of cases. The overall early neonatal mortality rate was 93%. There was one infant death at 6 weeks of age and no survival noted beyond this period. These data provide reliable information for parental counseling pertaining to risk of intrauterine death when trisomy 13 is diagnosed prenatally. These data also indicate that the survival outcome is worse than that previously accepted from studies of postnatal follow up of live born infants with this diagnosis. © 2014 Wiley Periodicals, Inc.
Article
The purpose of the study is to provide data about 22 survivors over the age of 1 year with full trisomy 18 (12-59 months). Mothers completed the online, mixed method Tracking Rare Incidence Syndrome (TRIS) Survey provides data on birth information (e.g., gestational age, birth weight) and medical conditions identified at birth and at the time of survey completion. Data indicate similar birth characteristics to other studies and presence of syndrome related medical conditions including cardiac conditions, use of a variety of feeding methods, apnea, respiratory difficulties, and kidney issues. Associated interventions, sometimes considered "aggressive" or "intensive" treatments including cardiac surgeries were noted in the sample. Implications for treatment are provided and the need for additional research with this clinical subgroup is needed. © 2013 Wiley Periodicals, Inc.
Article
Trisomy 13 and trisomy 18 (T13-18) are associated with high rates of perinatal death and with severe disability among survivors. Prenatal diagnosis (PND) may lead many women to terminate their pregnancy but some women choose to continue their pregnancy. We sent 503 invitations to answer a questionnaire to parents who belong to T13 and 18 internet support groups. Using mixed methods, we asked parents about their prenatal experience, their hopes, the life of their affected child, and their family experience. 332 parents answered questions about 272 children; 128 experienced PND. These parents, despite feeling pressure to terminate (61%) and being told that their baby would likely die before birth (94%), chose to continue the pregnancy. Their reasons included: moral beliefs (68%), child-centered reasons (64%), religious beliefs (48%), parent-centered reasons (28%), and practical reasons (6%). At the time of the diagnosis, most of these parents (80%) hoped to meet their child alive. By the time of birth, 25% chose a plan of full interventions. A choice of interventions at birth was associated with fewer major anomalies (P < 0.05). Parents describe "Special" healthcare providers as those who gave balanced and personalized information, respected their choice, and provided support. Parents make decisions to continue a pregnancy and choose a plan of care for their child according to their beliefs and their child's specific medical condition, respectively. Insights from parents' perspective can better enable healthcare providers to counsel and support families. © 2013 Wiley Periodicals, Inc.