Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis:A case report  

作　　者：Cui Chen Tao Tang Qi-Ling Song Yong-Jun He Yan Cai 

机构地区：[1]Genetic and Prenatal Diagnosis Center,Affiliated Hospital of North Sichuan Medical College,Nanchong 637000,Sichuan Province,China

出　　处：《World Journal of Clinical Cases》2023年第28期6895-6901,共7页世界临床病例杂志

摘　　要：BACKGROUND Quantitative fluorescent polymerase chain reaction(QF-PCR)is a rapid prenatal diagnostic method for abnormalities on chromosomes 21,18,and 13 and sex chromosomal aneuploidy.However,the value of QF-PCR in diagnosing chromosomal structural abnormalities is limited.In this article,we report a confusing QF-PCR finding in a pregnant woman who underwent amniocentesis.CASE SUMMARY The short tandem repeat marker AMXY(Xp22.2/Yp11.2)located on the sex chromosome exhibited a trisomic biallelic pattern,indicating that the karyotype of the fetus might be 47,XYY.Chromosome analysis performed on cultured amniocytes showed a normal male karyotype of the fetus.Copy number variation sequencing confirmed a 500 kb duplication at Yp11.2-Yp11.2(chrY:6610001_7110000)and a 250 kb duplication at Yp11.2-Yp11.2(chrY:7110001_7360000).CONCLUSION In conclusion,the comprehensive application of different methods could achieve a higher detection rate and accuracy for the prenatal diagnosis of chromosomal disorders through chromosomal testing.

关 键 词：Quantitative fluorescent polymerase chain reaction Copy number variation sequencing Prenatal diagnosis Partial duplication KARYOTYPING Case report 

分 类 号：R714.8[医药卫生—妇产科学]