Prenatal diagnosis and genetic analysis of 5 fetuse of Noonan syndrome
Objective:To identify the clinical and genetic features of Noonan syndrome by retrospectively analyzing genealogies of 5 fetuses diagnosed as Noonan syndrome prenatally.Methods:In this retrospective study,5 fetuses were diagnosed prenatally as Noonan syndrome in Maternal and Child Health Care Hospital,Capital Medical University from June 2018 to August 2022.Five fetuses had abnormal ultrasound findings,mainly including increased nuchal translucency thickening(NT),nuchal cystic hygroma,fetal edema and so on.The copy number variation(CNV)testing and prenatal whole exome sequencing(WES)were conducted in the fetuses and their parents.Results:Five fetuses had normal CNV,in whom four had genetic mutation of PTPN11,and one had genetic mutation of LZTR1.They were all clearly diagnosed as Noonan syndrome combining with the abnormal ultrasound findings.Conclusions:Prenatal ultrasound abnormalities such as increased nuchal translucency thickening(NT),nuchal cystic hygroma,fetal edema should be considered as manifestation of Noonan syndrome after excluding chromosomal diseases.Prenatal WES testing has important application value in prenatal diagnosis of Noonan syndrome.
万方数据
维普
