Abstract
Objective To explore the necessity and feasibility of the prenatal diagnosis of 22q11 microdeletion in fetuses with congenital heart disease.Methods Amniocentesis or cordocentesis were used to get the cells of fetuses in 16 pregnant women tested as fetal congenital heart defects by prenatal ultrasound examination.Then the karyotype analysis and two-color fluorescence in situ hybridization were all carried out for detection of 22q11 microdeletion in these fetuses.Results 22q11 microdeletion was detected in I case.Conclusion 22q1 1 microdeletion prenatal diagnosis in fetuses with congenital heart disease is neccessary and feasible.It has great significance for avoiding the birth of children with congenital heart disease caused by 22q11 microdeletion and recurrence birth risk assessment. Key words: 22q11 microdeletion; Fluorescence in situ hybridization; Congenital heart disease; Prenatal diagnosis
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