128例胎儿性染色体异常的产前诊断与临床分析

Prenatal diagnosis and clinical analysis of 128 cases with fetal sex chromosome abnormality

目的分析孕中期胎儿性染色体异常的发生率以及为孕妇选择妊娠结局,以提供遗传咨询。方法对2011年1月到2015年12月在广西壮族自治区妇幼保健院遗传门诊就诊的患者,行孕中期羊膜腔穿刺术,制备羊水染色体并对胎儿核型进行分析。结果 24 527例羊水标本中,共检测出128例性染色体异常,异常率为0.52%,染色体数目异常107例,尤其以特纳综合征为主,占51例,其次是克氏综合征27例,超雌综合征14例和超雄综合征13例等。结论孕妇在孕期具有高龄妊娠、唐氏筛查高危、B超检查显示脏器结构异常或胎儿颈部水囊瘤等临床指征,从而增加了胎儿性染色体数目异常和结构异常的风险,因此通过产前诊断降低出生缺陷以达到优生的目的。

Objective： In order to provide genetic counselingfor pregnant women, the incidence of fetal sex chromosome abnormality in mid-trimesterwas analyzed. Methods： Amniocentesis was performed for patients who had finished prenatal diagnosis from Jan 2011 to Dec 2015 in genetic clinics of Guangxi maternal and child health care hospital and then fetal chromosomal karyotype was analyzed by G-banding. Results： 128 cases of sex chromosome abnormality were detected which account for 0.52% in 24 527 cases of amniotic fluid samples, 107 cases of aneuploidy （abnormal number of chromosomes） were found in which 51 cases were of Turner syndrome. In addition, 27 cases of Klinefelter＇ s syndrome, 14 cases of XXX syndrome and 13 cases of XYY syndrome were also tested. Conclusion： Advanced maternal age, high risk of Down＇ s syndrome screening, abnormal of organs by B-ultrasonic examination andnuchal cystic hygroma are possible clinical indications ofchromosome abnormality. Therefore, prenatal diagnosis is an effective tool to achieve the goal of producing genetically superior offspring by reducing birth defects.