CAJ | 학술논문

目的：探讨有不良孕产史的孕妇行胎儿染色体核型分析的临床意义。方法2005年1月4日至2013年12月31日，共1193例孕妇因不良孕产史在北京大学第一医院行羊膜腔穿刺羊水细胞胎儿染色体核型分析。根据既往不良孕产史病因，将其分为4组，分别是：生育过遗传代谢性疾病或单基因遗传性疾病患儿的孕妇273例（A组），孕育过染色体病患儿的孕妇81例（B组），夫妇一方为染色体异常携带者8例（C组），不良孕产史病因不详的孕妇833例（D组）。回顾分析这些孕妇胎儿染色体异常核型的分布特点。结果共发现胎儿染色体异常48例[4.0%（48/1193）]，其中染色体多态性变异26例，染色体结构和数目异常22例，包括4例21-三体、4例性染色体异常、3例18-三体、3例额外小染色体、3例相互易位、1例罗伯逊易位、1例6号染色体臂间倒位、1例3号染色体臂间倒位、1例14-三体嵌合型、1例14号染色体结构异常。A组检出4例（1.5%）有临床意义的胎儿染色体核型异常及4例多态性变异；A组同时检出61例遗传代谢性疾病或单基因遗传性疾病胎儿及2例基因突变携带者，但均未合并染色体核型异常。B组检出2例（2.5%）胎儿染色体核型异常。C组检出2例（2/8）胎儿染色体相互易位，核型均与亲代相同。D组共检出3例21-三体、3例18-三体、2例性染色体异常、2例额外小染色体，均为高龄孕妇；还检出4例染色体结构异常及22例染色体多态性变异，夫妇均行外周血染色体检查，证实胎儿异常核型来自双亲之一。结论应根据不良孕产史的病因，选择合适的产前诊断方法。
목적：탐토유불량잉산사적잉부행태인염색체핵형분석적림상의의。방법2005년1월4일지2013년12월31일，공1193례잉부인불량잉산사재북경대학제일의원행양막강천자양수세포태인염색체핵형분석。근거기왕불량잉산사병인，장기분위4조，분별시：생육과유전대사성질병혹단기인유전성질병환인적잉부273례（A조），잉육과염색체병환인적잉부81례（B조），부부일방위염색체이상휴대자8례（C조），불량잉산사병인불상적잉부833례（D조）。회고분석저사잉부태인염색체이상핵형적분포특점。결과공발현태인염색체이상48례[4.0%（48/1193）]，기중염색체다태성변이26례，염색체결구화수목이상22례，포괄4례21-삼체、4례성염색체이상、3례18-삼체、3례액외소염색체、3례상호역위、1례라백손역위、1례6호염색체비간도위、1례3호염색체비간도위、1례14-삼체감합형、1례14호염색체결구이상。A조검출4례（1.5%）유림상의의적태인염색체핵형이상급4례다태성변이；A조동시검출61례유전대사성질병혹단기인유전성질병태인급2례기인돌변휴대자，단균미합병염색체핵형이상。B조검출2례（2.5%）태인염색체핵형이상。C조검출2례（2/8）태인염색체상호역위，핵형균여친대상동。D조공검출3례21-삼체、3례18-삼체、2례성염색체이상、2례액외소염색체，균위고령잉부；환검출4례염색체결구이상급22례염색체다태성변이，부부균행외주혈염색체검사，증실태인이상핵형래자쌍친지일。결론응근거불량잉산사적병인，선택합괄적산전진단방법。
Objective To study the clinical significance of chromosome karyotyping in pregnant women with a history of abnormal pregnancy. Methods The fetal chromosome karyotypes of 1 193 pregnant women with a history of abnormal pregnancy in Peking University First Hospital from January 4, 2005 to December 31, 2013 were analyzed. According to the etiology of their previous abnormal pregnancy, these women were divided into four groups: 273 women had children with inherited metabolic disorders or single-gene genetic diseases (group A), 81 women had children or fetuses with chromosome abnormalities (group B), eight cases had an abnormal chromosomal karyotype in either husband or wife (group C), and 833 women had abnormal pregnancy of unknown causes(group D). Results Forty-eight [4.0%(48/1 193)] and fetuses were found to have abnormal chromosomal karyotypes, including 26 cases of chromosome polymorphism variations and 22 cases of numerical and structural abnormalities (four cases of trisomy 21, four cases of numerical sex chromosome abnormalities, three cases of trisomy 18, three cases of extra small chromosome mosaicism, three cases of reciprocal translocation, one case of Robertsonian translocation, one case of chromosome six inversion between the arms, one case of chromosome three inversion between the arms, one case of mosaicism of trisomy 14 and one case of structural abnormality of chromosome 14). In group A, four cases (1.5%) of chromosomal abnormalities of clinical significance and four cases of chromosome polymorphism variations were detected. Meanwhile, 61 fetuses with inherited metabolic disorders or single-gene genetic diseases and two cases of gene mutation carriers were detected in group A, but among whom, there were no abnormal chromosome karyotype cases. In group B, two cases (2.5%) of chromosomal abnormalities were found. In group C, two cases (2/8) of reciprocal translocation were found, whose karyotypes were the same as the parents. In group D, three cases of trisomy 21, three cases of trisomy 18, two cases of extra small chromosome mosaicism and two cases of numerical sex chromosome abnormalities were found. All the mothers in this group were of advanced age. Four cases of structural abnormalities and 22 cases of chromosome polymorphism variations were also found in this group, chromosomal analysis was subsequently performed in those couples, and found that the abnormal chromosomal karyotypes in the fetuses were the same as those in the parents. Conclusions Appropriate prenatal cell genetic diagnostic methods should be chosen according to the causes of abnormal pregnancy history.