Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performe...Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performed.Methods: Traditional chromosome karyotype and whole-genome sequencing(WGS) was used to process karyotyping and genomic microdeletion and microduplication analysis.Results: the result of fetal amniotic fluid chromosome karyotype is 46,XY,rec(18),dup(18)(q12.3q23);his mother's chromosome karyotype is 46,XX,inv(18)(P11.3q12);and his father's chromosome karyotype is normal.Conclusions:A male newborn with partial trisomy 18q variation was detected in a fetus whose mother with abnormal pregnancy history, that was combined with traditional chromosome karyotype and WGS. The WGS technology has an important clinical value in the prevention of fetal birth defects of abnormal pregnancy history family in prenatal diagnosis.展开更多
基金Major Science and Technology Program of Hainan Province(No.ZDKJ2017007)National Natural Science Foundation of China(No.81660433,81460034,81460236)+1 种基金National Special Project for International Science and Technology Cooperation(No.2014DFA30180)2018 Natural Science Foundation of Hainan Youth Fund Project(No.818QN315).
文摘Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement which was 18 chromosome inversion;and cytogenetic analysis of the fetal amniotic fluid was performed.Methods: Traditional chromosome karyotype and whole-genome sequencing(WGS) was used to process karyotyping and genomic microdeletion and microduplication analysis.Results: the result of fetal amniotic fluid chromosome karyotype is 46,XY,rec(18),dup(18)(q12.3q23);his mother's chromosome karyotype is 46,XX,inv(18)(P11.3q12);and his father's chromosome karyotype is normal.Conclusions:A male newborn with partial trisomy 18q variation was detected in a fetus whose mother with abnormal pregnancy history, that was combined with traditional chromosome karyotype and WGS. The WGS technology has an important clinical value in the prevention of fetal birth defects of abnormal pregnancy history family in prenatal diagnosis.
