Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis

Table 2 CMA results of fetuses with PS

Case	CMA	Size (Mb)	Prenatal ultrasound	Pathogenicity classification	Postnatal outcome	Inheritance
1	arr[hg19]22q11.21(18,631,364 − 21,800,471)x1	3.1	PS, VSD, Aortic straddle	P	TP	denovo
2	arr[hg19]22q11.21(18,648,855 − 21,800,471)x1	3.1	PS, VSD, Aortic straddle	P	TP	-
3	arr[hg19]22q11.21(18,919,477 − 21,800,471)x1	2.8	PS	P	TP	denovo
4	arr[hg19]16p11.2(29,428,531 − 30,177,916)x1	0.7	PS	P	TP	denovo
5	arr[hg19]16p11.2(29,428,531 − 30,190,029)x1	0.6	PS, VSD, Aortic straddle	P	TP	denovo
6	arr[hg19]1q21.1q21.2(145,995,176 − 147,398,268)x3	1.4	PS,Tricuspid stenosis, Right heart dysplasia	P	TP	maternal
7	arr[hg19]18q23(73,969,018–78,013,728)x1, 22q13.33(49,571,996 − 51,197,766)x3	4.0, 1.6	PS	P	TP
8	arr[hg19]15q24.1q24.2(72,965,465 − 75,567,135)x1	2.6	PS, VSD, FGR, Nasal bone dysplasia	P	TP	denovo
9	arr[hg19]15q13.3(32,003,537 − 32,444,043)x3	0.4	PS, VSD, Aortic straddle Right aortic arch with mirroring branch	VUS	TP	-
10	arr[GRCh37]3p26.2p25.1(2886527_13828221)x2hmz,4p16.3p15.33(3473602_14373371)x2hmz,5p13.3p11(31554333_46313469)x2 hmz	10.9, 10.9, 14.8	PS,Strephenopodia	VUS	TD	-
11	arr[hg19]8p22(17,179,780 − 18,518,478)x3	1.3	PS, VSD, Aortic straddle	VUS	TP	-
12	arr[hg19]16p12.3(19,333,917 − 20,487,932)x1	1.1	PS, VSD, Aortic straddle,Single umbilical artery	VUS	TP	-

FGR,fetal growth restriction; VSD, ventricular septal defect; P, pathogenic; TP, termination of pregnancy; TD, term delivery; PS, pulmonary stenosis; CMA, chromosomal microarray analysis

ISSN: 1755-8794