淄博市双胎妊娠介入性产前诊断的临床分析  

Clinical analysis of interventional prenatal diagnosis of twin pregnancy in Zibo

作　　者：巩振华[1] 刘成程[1] 刘海婷[1] 姚雪涛 刘娜 GONG Zhen-hua;LIU Cheng-cheng;LIU Hai-ting;et al(Maternal and ehild health care hospital of Zibo, Shandong Zibo 25500)

机构地区：[1]淄博市妇幼保健院,山东淄博255000

出　　处：《医学检验与临床》2018年第1期22-26,共5页Medical Laboratory Science and Clinics

摘　　要：目的：了解淄博市双胎妊娠的产前诊断情况，探讨双胎妊娠产前诊断的临床价值及安全性。方法：选取2016年3-2017年2月到我院进行产前诊断的双胎妊娠患者，回顾性分析存在介入性产前诊断指征的双胎妊娠孕妇的临床资料。结果：介入性羊膜腔穿刺双胎妊娠6例，进行产前诊断胎儿12例，检出异常胎儿4例（33．3%）。其中：①1例经培养羊水核型双胎均为46，XX，der（4）ins（4；？）（q31．3；？）mat，SNP Array检测结果：arr[hg19]7q11．23q21．3（7728.3926-9352.8760）×3，其母亲及外祖母的SNPArray和核型结果均与胎儿一致。②一例经培养双胎之一羊水核型为47，XX，＋21。③一例经培养双胎之一羊水核型为46，XY，inv（5）（q15q33）mat。经遗传咨询。核型为21三体的胎儿上级医院行减胎术。其余均继续妊娠，足月分娩后随访均正常。结论：介入性产前诊断是双胎妊娠安全、有效的诊疗手段。根据胎儿的异常结果，对胎儿制定不同的妊娠方案，能有效的避免缺陷儿的出生，具有极大的临床应用价值。Objective. This study aims to investigate the prenatal diagnosis rate of twin pregnancy in Zibo, and to discuss the clinical value and safety of prenatal diagnosis of twin pregnancy. Methods： The clinical data was performed a retrospective analysis for the presence ofinterventional prenatal diagnosis of twin pregnancy pregnant women from March 2016 to February 2017 in our hospital. Results： 6 cases were diagnosed as twin pregnancy by interventional amniocentesis; 12 cases of fetus were diagnosed by prenatal diagnosis; 4 cases （33.33%） were detected as abnormal fetus. Among them： ①1 case ofamniotic fluid karyotype twins were 46, XX, der （4） ins （4; ？） （q31.3; ） mat. SNP array test results showed that art [hg1917q11.23q21.3 （77283926-93528760） ×3, consistent with their mother and grandmother＇s SNP array and karyotype results. ②The karyotype ofamniotic fluid in one of the twins was 47, XX, ＋21. ③The karyotype ofamniotic fluid in one of the twins was 46, XY, inv （5） （q15q33） mat. After genetic counseling, the fetus with trisomy 21 was treated with fetal reduction in the superior hospital, and the rest of them continued to have pregnancy. All the patients were followed up after birth. Conclusion： Interventional prenatal diagnosis is a safe and effective method for diagnosis and treatment of twin pregnancy. According to the abnormal results of fetus, it is of great clinical value to formulate different pregnancy protocols for the fetus, which can effectively avoid the birth of defective children.

关 键 词：双胎妊娠 产前诊断 羊膜腔穿刺 无创产前筛查 

分 类 号：R714.5[医药卫生—妇产科学]