Prenatal diagnosis of X-linked recessive punctal chondrodysplasia in fetus
Objective Using ultrasonography to find the fetal with spotted epiphysis,then cytological and molecular genetic tests were performed.Methods Collectting fetal amniotic fluid,the genetic etiology of fetal skeletal abnormalities was analyzed by karyotype,copy number variation(CNV)detection and family whole exome sequencing(WES).Results Fetal karyotype analysis showed no abnormalities.Both copy number variation detection and Trio-WES detection revealed a 1.69 Mb microdeletion in the fetal Xp22.33 region.The deletion contained the haplodose-sensitive gene ARSL,and combined with the results of fetal intrauterine phenotype and genetic testing,the fetus was definitively diagnosed as X-linked recessive punctata chondrodysplasia(CDPX1).At the same time,0.82microdeletion was detected in the fetal Xp22.2-p22.13 region,which confirmed that the mutation came from pregnant women,and 4.51 Mb heterogenic deletion was also found in the Xp22.2p22.13 region of pregnant women,containing haplus-dose sensitive genes,which was a pathogenic copy number muta-tion.Conclusion For fetal intrauterine structural abnormalities,comprehensive use of a variety of appropriate genetic tech-niques can find the cause of fetal abnormal phenotype,clear prenatal diagnosis.Combined with parental verification,addi-tional chromosome abnormalities were found in the parents,which avoided the risk of recurrence of genetic diseases,and pro-vided an important reference for the family's reproductive planning.
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