Table 1

Major cardiac defects: antenatal diagnoses in chromosomally normal and abnormal pregnancies

Case numberKaryotypeTime of diagnosis (weeks)Indication for fetal echocardiographyCardiac defectOutcome
ASD, atrial septal defect; AVSD, atrioventricular septal defect; CHD, congenital heart defects; NT, nuchal translucency; RV, right ventricle; T13, trisomy 13; T18, trisomy 18; T21, trisomy 21; TGA, transposition of the great arteries; VSD, ventricular septal defect.
1Normal12Increased NTHypoplastic left heart syndromeTermination at 12 weeks
2Normal12Fetal bradycardiaLeft isomerism (complex)Termination at 12 weeks
3Normal13Previous baby with CHDSevere aortic arch hypoplasia, small left ventricleTermination at 22 weeks
4Normal14Increased NTNarrow aortic isthmus (<0.4 mm)Termination at 14 weeks
5T2114Increased NTAVSDTermination at 15 weeks
6T2115Increased NTAVSDIntrauterine death at 17 weeks
7Normal17Increased NT, abnormal cardiac viewsHypoplastic left heart syndromeTermination at 19 weeks
8Normal17Increased NTTruncus arteriosusIntrauterine death at 27 weeks
9T1818Increased NTVSD, polyvalvar dysplasiaIntrauterine death at 37 weeks
10T1320Abnormal cardiac views and increased NTSingle outlet with pulmonary atresia, aorta from RVNeonatal death
11Normal20Abnormal cardiac viewsCorrected TGALive birth, long term follow up
12Normal20Abnormal cardiac viewsSevere pulmonary stenosis/ pulmonary atresiaPreterm delivery at 26 weeks, neonatal death
13Normal20Abnormal cardiac viewsTricuspid atresiaTermination at 21 weeks
14Normal20Abnormal cardiac viewsTetralogy of FallotIntrauterine death at 26 weeks
15Normal20Unsatisfactory cardiac viewsTetralogy of FallotLive birth, surgery
16T2121Abnormal cardiac views and increased NTAVSDLive birth, surgery
17T1821Abnormal cardiac views—no fetal echocardiographyComplex cardiac defectTermination at 22 weeks
18T1321Abnormal cardiac viewsMitral atresia, double outlet RVTermination at 22 weeks
19Normal21Abnormal cardiac viewsCritical aortic stenosisTermination at 22 weeks
20Normal21Abnormal cardiac viewsDouble inlet left ventricleLive birth, surgery
21Normal22Unsatisfactory cardiac viewsAortic stenosisLive birth, long term follow up
22Normal22Unsatisfactory cardiac viewsCoarctation of aortaLive birth, surgery
23Normal22Intracardiac echogenic focusTetralogy of Fallot, pulmonary atresiaTermination at 24 weeks
24Normal24Unsatisfactory cardiac viewsCorrected TGA, VSD, and pulmonary atresiaLive birth, surgery
25Normal26Abnormal cardiac views—late bookerAtrioventricular septal defectLive birth, surgery
26Normal27Extracardiac reasons—severe growth restrictionSitus inversus, complete TGAPreterm delivery at 28 weeks, neonatal death
27Normal27Abnormal cardiac views on follow up scanAtrioventricular septal defect primum ASDLive birth, surgery
28T1330Abnormal cardiac views—late bookerSmall VSD, coarctation of aortaNeonatal death
2922q deletion34Abnormal cardiac views on follow up scanTruncus arteriosusLive birth, surgery
30Normal39Abnormal cardiac views on follow up scanSevere pulmonary stenosisLive birth, balloon dilatation