Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort

Table 2 Pathogenic results detected in CMA

Case	MA	GA	Clinical CHD phenotypes	Genetic results	Pregnancy outcome
1	35	23⁺³	SA, DORV, PA, AS	Trisomy 18	TP
2	36	22⁺⁶	SA	Trisomy 21	TP
3	43	20⁺¹	SA, HLHS	Trisomy 18	TP
4	31	29⁺³	SV, GVD, AVD	Trisomy 13	TP
5	29	22⁺¹	SA + SV, PTA	arr[hg19]16p12.2(21,740,199–22,442,007) × 1	TP
6	26	23⁺⁵	SA + SV, PTA	arr[hg19]11q24.1q24.3(121,235,870–130,733,365) × 1	TP

SA Single atria, SV Single ventricle, MA Mean maternal age, GA Gestational age, TP Termination of pregnancy, DORV Double-outlet right ventricle, PA Pulmonary atresia, AS Aortic stenosis, HLHS Hypoplastic left heart syndrome, GVD Great vessel dysplasia, AVD Atrioventricular valve dysplasia, PTA Persistent truncus arteriosus

ISSN: 1471-2431