Prenatal diagnosis and phenotyping of fetuses with 22q11.2 microduplication
Objective To analysis prenatal diagnosis and phenotype of fetuses with 22q11.2 microduplication and provide basis for prenatal genetic counseling.Methods 13 fetuses with 22q11.2 microduplication indicated by copy number variation sequencing(CNV-seq)were analyzed for prenatal diagnosis indication,ultrasound and genetic results,parental origin,pregnancy outcome and postnatal growth and development.Results 10 fetuses were revealed as 22q11.2 microduplication by non-invasive prenatal testing(NIPT)including 3 with ultrasound abnormality,1 with ultrasound abnormality and advanced maternal age.2 fetuses with ultrasound abnormality only.And 1 fetus with ultrasound abnormality and advanced maternal age.Ultrasound abnormalities included cardiac abnormalities,ventriculomegaly,increased nuchal fold,increased nuchal translucency,nasal bone abnormality and single umbilical artery.13 fetuses of 22q11.2 microduplication with normal karyotype were classified as variants of uncertain significance(4 fetuses)and pathogenic(9 fetuses).6 fetuses were inher-ited from asymptomatic parents and 2 were de novo.12 fetuses were term born with no abnormality.And they were fol-lowed up to the minimum age of 2 years and 4 months and the maximum age of 4 years and 7 months,language retardation(2 cases),ventricular septal defect healed 6 months after birth(1 case),normal development(8 cases).1 case was lost to follow-up during pregnancy and 2 lost follow-up after birth.Conclusion The application of NIPT increased the detection rate of fetuses with 22q11.2 microduplication.Most 22q11.2 microduplication are parental origin and the prenatal pheno-types are highly heterogeneous.The prognosis of fetus should be evaluated comprehensively by ultrasound and parental origin during prenatal counseling.
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