Objective To investigate the clinical manifestations and prenatal diagnosis strategy of fetuses with Cri-du-chat syndrome(CDCS).Methods A retrospective analysis was performed on 9 cases of CDCS diagnosed by interventional prenatal diagnosis and confirmed by chromosome microarray analysis combined with karyotype analysis in Xijing Hospital,Air Force Medical University from January 2015 to December 2022.The results of serological screening,non-invasive DNA screening,fetal ultrasound findings and genetic testing during pregnancy and pregnancy outcomes of the cases included in this study were collected and systematically analyzed.Results There were 9 patients with CDCS diagnosed before delivery,5 of whom had single deletion at the end of short arm of chromosome 5,and the deletion ranged from 9.04 to 37.00 Mb.In addition to the deletion of the end of chromosome 5,4 cases also contained large fragment duplication of other chromosomes.Non-invasive DNA screening showed 5p-in 2 cases,and the remaining 7 cases showed clinical manifestations of congenital heart disease.Telephone follow-up confirmed that 9 cases of CDCS fetuses were induced after prenatal diagnosis and consultation with eugenics genetics specialist.Conclusion There is a certain correlation between CDCS and congenital heart disease.Prenatal diagnosis of CDCS is an effective means to avoid birth defects.Analysis of prenatal clinical manifestations of CDCS is helpful to enrich the spectrum of prenatal manifestations of the disease.
维普
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