Fetal congenital talipes equinovarus: genomic abnormalities and obstetric follow-up results

Figures & data

Table 1. Results of pathogenic microdeletion/microduplication in fetuses with CTEV.

Case	SNP-array results	Size (Mb)	Candidate gene(s)	Clinical significance	Inheritance	Obstetric follow-up
1	arr[hg19]22q11.21(18631365_21464764)x1	2.8	DGCR2, TBX1, DGCR8, DGCR6L	P	–	TOP
2	arr[hg19]22q11.21(18,919,477-21,800,471)x1	2.9	DGCR2, TBX1, DGCR8, DGCR6L	P	–	TOP
3	arr[hg19]22q11.21(20,730,143-21,800,471)x1	1.0	ZNF74, SCARF2, MED15, PI4KA, SERPIND1, SNAP29, CRKL	P	–	TOP
4	arr[hg19]17p12p11.2(15,759,453-20,547,625)x3	4.7	RAI1	P	–	5 years old, TE and low intelligence, autism, ADHD, Plaster treatment
5	arr[hg19]17p12p11.2(15491109_20698334)x3	5.2	RAI1	P	Denovo	TOP
6	arr[hg19]15q11.2(22770422_23082237)x1	0.3	TUBGCP5, CYFIP1, NIPA2, NIPA1	P	Paternal	Plaster treatment, healthy
7	arr[hg19]7q11.23(72608900_74242167)x3	1.6	ELN, LIMK1, GTF2IRD1, GTF2I	P	Maternal	Plaster treatment, healthy

CTEV, congenital talipes equinovarus; TOP: termination of pregnancy; ADHD: attention deficit hyperactivity disorder.

Table 2. Pregnancy outcomes and follow-up of 68 fetuseswith CTEV.

	Pregnancy outcomes andfollow-up
SNP-array	Loss to follow-up	Stillbirth	TOP	CTEVafter birth	Normal after birth	CTEV and abnormal growth and developmentafter birth	Total
Normal CNV	2	2	4	40	9	3	60
pCNV	0	0	5	2	0	1	8

CTEV, congenital talipes equinovarus; TOP: termination of pregnancy; pCNV: pathogeniccopy number variation.

Availability of data and materials

All data generated or analyzed during this study are included in this published article.