胎儿染色体平衡易位的遗传学分析及妊娠结局OA

Objective:To investigate the distribution of balanced chromosomal translocations in fetuses from the Quanzhou region,the corresponding chromosome microarray analysis(CMA)findings,and pregnancy outcomes,thereby providing a theoretical basis for clinical diagnosis and genetic counseling.Methods:A total of 12 003 pregnant women who underwent amniocentesis for high-risk indications at the Prenatal Diagnosis Center of Quanzhou Maternal and Child Health Hospital(Quanzhou Children's Hospital)between January 2017 and May 2023 were enrolled.Of these,7 117 received karyotype analysis alone,while 4 886 underwent both karyotyping and single nucleotide polymorphism array(SNP array)testing.Balanced translocation karyotypes and CMA results were analyzed,and pregnancy outcomes were followed up.Results:Seventy-five cases of balanced chromosomal translocations were identified(including 20 Robertsonian translocations),yielding a detection rate of 0.62%(75/12 003).Among them,45 were inherited from the mother,12 from the father,6 were confirmed as de novo,and 12 remained unverified.Regarding pregnancy outcome,59 women chose to continue the pregnancy,5 elected termination,and 11 were lost to follow-up.All newborns with postnatal follow-up were healthy.The most frequently involved chromosomes were D-group chromosomes 13 and 14(17 cases each),followed by A-group chromosome 1(13 cases).Conclusion:Most fetal balanced chromosomal translocations are inherited from phenotypically normal parents.The combined use of karyotype analysis and CMA with family studies can accurately determine the type and origin of translocations,thereby facilitating clinical genetic counseling and pregnancy management.