Prenatal diagnosis and genetic analysis of increased fetal nuchal translucency due to 2p15-16.1 microdeletion: a case report

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 2p15-16.1 microdeletion syndrome was characterized by mental retardation, language developmental disorder, microcephaly and so on. This case we reported here was a de novo 2p15-16.1 microdeletion which contained the critical region and genes of 2p15-16.1 microdeletion syndrome and was inferred to be a pathogenetic mutation. The gravida chose to terminate the pregnancy after genetic consultation. Key words: Chromosomes, human, pair 2; Chromosome deletion; Nuchal translucency measurement; Prenatal diagnosis; Pregnancy outcome