Prenatal diagnosis and genetic analysis of increased fetal nuchal translucency due to 2p15-16.1 microdeletion: a case report
10.3760/cma.j.issn.1007-9408.2019.01.005
- VernacularTitle:一例表现为颈项透明层增厚的2p15-16.1微缺失胎儿的产前诊断及遗传学分析
- Author:
Mengting ZHANG
1
;
Dong WU
;
Hai XIAO
;
Hongdan WANG
;
Qian ZHANG
;
Yue GAO
;
Yan CHU
;
Chaoyang ZHANG
;
Shixiu LIAO
Author Information
1. 河南省人民医院郑州大学人民医院医学遗传研究所 450003
- Keywords:
Chromosomes,human,pair 2;
Chromosome deletion;
Nuchal translucency measurement;
Prenatal diagnosis;
Pregnancy outcome
- From:
Chinese Journal of Perinatal Medicine
2019;22(1):22-25
- CountryChina
- Language:Chinese
-
Abstract:
We reported the prenatal molecular diagnosis and pregnant outcome of a fetus with increased nuchal translucency.The ultrasound findings of the gravida at 12+5 gestational weeks indicated that the fetal nuchal translucency thickness was 4.5 mm,and non-invasive prenatal testing suggested as low risk.Amniocentesis was performed at 18 gestational weeks.Fetal chromosomal karyotype was normal but chromosome microarray comparative genomic hybridization analysis identified a 1.878 Mb deletion on chromosome 2p15-16.1.No copy number variation was found in the parents.The microdeletion was also verified by multiplex ligation-dependent probe amplification.Literature reported that chromosome 2p 15-16.1 microdeletion syndrome was characterized by mental retardation,language developmental disorder,microcephaly and so on.This case we reported here was a de novo 2p 15-16.1 microdeletion which contained the critical region and genes of 2p 15-16.1 microdeletion syndrome and was inferred to be a pathogenetic mutation.The gravida chose to terminate the pregnancy after genetic consultation.
