Background Most congenital heart defects (CHDs) are diagnosed on targe
ted prenatal transvaginal (TVS) or transabdominal (TAS) ultrasonograph
y during the early second trimester or at midgestation. Nevertheless,
delayed diagnosis in some cardiac malformations still remains despite
detailed echocardiographic examination. The present study was conducte
d to evaluate the evolution of fetal cardiac anomalies and assess thei
r development in utero. Methods and Results We retrospectively reviewe
d 22050 pregnant women who were divided into two groups: 6924 who had
initial TVSs at 13 to 16 weeks' gestation, followed by TASs at 20 to 2
2 weeks, and 15 126 who had initial TASs at 20 to 22 weeks. Both group
s were subsequently examined in their third trimester. All newborns we
re examined by certified pediatricians. CHD was diagnosed in 168 babie
s: 66 in group A and 102 in group B. In group A, 42 malformations (64%
) were detected at the first TVS examination, and 11 (17%) were found
during the subsequent TAS. Three additional anomalies (4%) were found
during the third trimester, and 10 malformations (15%) were detected p
ostnatally. In group B, 80 malformations (78%) were detected in the in
itial examination at midtrimester, and an additional 7 (7%) were found
in the third trimester, whereas 15 (15%) were diagnosed postnatally.
The 19 anomalies (group A, n=3; group B, n=7) that were detected only
during the third trimester comprised aortic stenosis (n=2), cardiac rh
abdomyoma (n=2), subaortic stenosis (n=1), tetralogy of Fallot (n=1),
aortic coarctation (n=1), sealed foramen ovale (n=1), ventricular sept
al defects (n=1), and hypertrophic cardiomyopathy (n=1). Conclusions A
lthough most fetal cardiac anomalies are detectable early in gestation
, some may evolve in utero at different stages of pregnancy.