Copy number variations associated with fetal congenital kidney malformations

Table 3 Five abnormal copy-number variations detected in fetuses with non-isolated renal hypodysplasia

case	CMA results	Size (Mb)	Prenatal ultrasound	Pathogenicity classification	Obstetrical outcomes	Inheritance
11	arr[hg19]22q11.21 (20,730,143-21,800,471) × 1	1.0	left renal dysplasia; Left choroid plexus cyst; strephenopodia	P	TP	de novo
12	arr[hg19]16q23.2q24.3 (79,800,878-90,146,366)hmz,16p13.3p12.3 (94,807-19,302,326)hmz	10.3	left renal agenesis; VSD; PVS; FGR	p	TP	UPD
13	arr[hg19]4p16.3p15.1 (68,345-35,252,743) × 1	35	renal hypoplasia;FGR; nasal bone dysplasia	P	TP	de novo
14	arr[hg19]7q11.23 (72,701,098-74,069,645) × 3	1.3	left renal agenesis, VSD;	P	TP	de novo
15	arr[hg19]16p13.11 (15,325,072-16,272,403) × 3	0.92	left renal dysplasia;URSMS	VUS	TP	de novo

FGR Fetal growth restriction, p Pathogenic, PVS Pulmonary valve stenosis, TP Termination of pregnancy, UPD Uniparental disomy, URSMS Urorectal septum malformation sequence, VSD Ventricular septal defect, VUS Variation of uncertain clinical significance

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