Shetty Mitesh, Srikanth Ambika, Kadandale Jayarama, Hegde Sridevi
Department of Medical Genetics, Manipal Hospital, Bangalore, India.
Cytogenet Genome Res. 2016;148(4):249-55. doi: 10.1159/000446162. Epub 2016 Jun 15.
Congenital heart defect (CHD) is the most common form of birth defects. There is a high association between increased nuchal translucency and CHD in fetuses, and CHD in the antenatal period has a high incidence of 22q11.2 deletion syndrome (22q11.2DS). Apart from 22q11.2DS, the BRUNOL3 gene at 10p14 is also associated with DiGeorge-like features. We studied a total of 110 pre- and postnatal CHD cases with FISH probes. 22q11.2DS was detected in 5 cases and 10p14 deletion in 1 case. Antenatally diagnosed cases of CHD should be investigated by karyotyping and 22q11.2DS testing. Cases with increased nuchal translucency, intrauterine growth retardation, and other non-cardiac malformations because of 22q11.2DS should be screened carefully for thymus dysgenesis. It is also advisable to screen patients referred for 22q11.2DS for a 10p14 deletion, therefore enabling appropriate parental counseling.
先天性心脏病（CHD）是最常见的出生缺陷形式。胎儿颈部半透明层增厚与CHD之间存在高度关联，并且产前CHD中22q11.2缺失综合征（22q11.2DS）的发病率很高。除了22q11.2DS外，位于10p14的BRUNOL3基因也与DiGeorge样特征相关。我们使用荧光原位杂交（FISH）探针共研究了110例产前和产后CHD病例。检测到5例22q11.2DS和1例10p14缺失。产前诊断的CHD病例应通过核型分析和22q11.2DS检测进行调查。因22q11.2DS导致颈部半透明层增厚、宫内生长迟缓及其他非心脏畸形的病例应仔细筛查胸腺发育不全。对于因22q11.2DS前来就诊的患者，筛查其是否存在10p14缺失也是可取的，从而能够为家长提供适当的咨询。
