Prenatal diagnosis and genetic analysis of increased fetal nuchal translucency due to 2p15-16.1 microdeletion: a case report / 中华围产医学杂志

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.