Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study

Table 4 Likely pathogenic variant and variants of uncertain significance identified by trio-WES in fetuses with RAA

Patient	GA/weeks	MA/years	RAA	ICA	ECA	Gene	Transcripts	Variant	Origin	Inheritance	Classification	Zygosity	Condition	Outcome
#22	27+1	27.0	RAA	TOF + not present or visualized DA	PLSVC +Bilateral ventricuolomegal	MTOR (601231)	NM_004958.3	c.7255G > A (p. Glu2419Lys)	De novo	AD	LP	Het	SMITH-KINGSMORE SYNDROME (616638)	TOP
#23	24	28.0	RAA, RDA	Heterotaxy (left atrial isomerism: IIVC+ AVSD+ CoA+ Hypoplastic aorta throughout+ small left ventricle)	Heterotaxy (PLSVC)	STAG2 (300826)	NM_001042749.2	c.3407A > T (p.Asp1136Val)	Mat	XL/XD/XR	VUS	Hemi	MULLEGAMA-KLEIN-MARTINEZ SYNDROME (301022)	TOP

MA, maternal age; GA, gestational age; ICA, additional intracardiac anomalies; ECA, extracardiac anomalies; RAA, right aortic arch; RDA, right ductus arteriosus; TOF, tetralogy of Fallot; DA, ductus arteriosus; IIVC, interrupted inferior vena cava; AVSD, atrioventricular septal defect; CoA, aortic coarctation; PLSVC, persistent left superior vena cava; Mat, Maternal inherited; Het, heterozygous; Hemi, hemizygous; AD, autosomal dominant; XL, X-linked inheritance; XR, X-linked recessive; XD, X-linked dominant; LP, likely pathogenic; VUS, variation of uncertain significance; TOP, termination of pregnancy.

ISSN: 1755-8166