Key result
Trisomy 18 carries highest stillbirth risk in fetal congenital heart disease, reaching ~64%.
Why the study?
Fetal congenital heart disease is frequently associated with chromosomal abnormalities, but stillbirth, neonatal mortality rates, and maternal morbidity needed assessment to guide parental counseling.
What are the stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of congenital heart disease?
Cohort (n=160)
No
What are the stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of congenital heart disease?
In fetuses with congenital heart disease and trisomies, survival to 1 year is high (86.1%) for trisomy 21, whereas livebirth rates are much lower (47.6%) for trisomies 13 and 18, providing important data for parental counseling.
Answers are grounded in this paper and cite their sources.
Supports individualized counseling on survival in trisomy-CHD pregnancies; extends observational data but leaves open need for prospective validation.
Fetal congenital heart disease (CHD) is often associated with chromosomal abnormalities. Our primary aim was to assess stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of CHD, from a single tertiary referral center during 2000-2020 in a retrospective cohort study. The secondary aims were to investigate maternal morbidity in these pregnancies, and to study the gestational or neonatal age when mortality occurred. Inclusion criteria were the prenatal diagnosis of at least one structural CHD, together with prenatally diagnosed fetal trisomy 13, 18, or 21. One-hundred and sixty patients with fetal trisomy 13 (14.4%), fetal trisomy 18 (28.8%), and fetal trisomy 21 (56.9%) were evaluated. In total, 98 (61.3%) families opted for the termination of pregnancy (TOP). Of the remaining 62 (38.8%) pregnancies, 16 (25.8%) resulted in intrauterine fetal death/death during delivery. Ten out of twenty-one (47.6%) infants with trisomy 13 or 18 were born alive. The livebirth rate was 87.8% (36/41) for infants with trisomy 21. Early neonatal death was observed in nine (19.6%) infants. Thirty-one (86.1%) infants with trisomy 21 survived the first year of life. These data may be helpful for counseling affected parents when the decision to terminate or continue the pregnancy should be considered.
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Springer et al. (2022) conducted a cohort in Fetal congenital heart disease (CHD) with trisomy 13, 18, or 21 (n=160). Fetal trisomy 13, 18, or 21 vs. Comparison between different trisomies was evaluated on Stillbirth (intrauterine fetal death) and neonatal mortality rates. In continued pregnancies with fetal congenital heart disease, stillbirth rates were 64.3% (trisomy 18), 28.6% (trisomy 13), and 12.2% (trisomy 21), with high 1-year survival for trisomy 21.
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