分类号：R714.23
出版年·卷·期（页码）：2017·9·第1期（51-56）
DOI:
10.13470/j.cnki.cjpd.2017.01.013
-----摘要：-------------------------------------------------------------------------------------------
目的 探讨双胎妊娠介入性产前诊断临床价值及安全性。方法 采用回顾性分析方法，分析存在介入性产前诊断指征的双胎妊娠孕妇临床资料。结果 介入性产前诊断双胎妊娠88例，其中，羊膜腔穿刺术87例，脐带血穿刺术1例。实际产前诊断胎儿个数169例，检出胎儿异常19例（11.18%）。其中：①产前筛查DS高风险29例、ES高风险1例，DS高风险检出双胎之一DS儿2例，检出双胎均为45,XX,der(13;14) (q10;q10) pat。②胎儿超声检查异常11例,检出双胎之一69,XXX 1例；18-三体4例；双胎之一46,XY,t(12;18)(q13;q21)de novo 1例。③高龄20例,检出双胎之一DS儿2例。④高龄+DS高风险15例，检出双胎之一DS儿4例。⑤单基因遗传病产前诊断6例，其中地中海贫血产前诊断4例，双胎均为血红蛋白H病1例、双胎均为重型β-地贫1例选择终止妊娠；双胎均为轻型α-地中海贫血1例。耳聋基因产前诊断2例，其中1例耳聋基因双重杂合突变，1例检出双胎之一耳聋基因异常、之一胎儿结构异常两例均选择终止妊娠。⑥其他7例。术后1个月随访，流产率为0。经遗传咨询4例选择终止妊娠、2例选择减胎术、13例选择期待疗法。结论 介入性产前诊断是双胎产前发现胎儿染色体异常及单基因遗传病安全、有效的手段，能有效避免缺陷儿出生，具有极大的临床实用价值。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To investigate the clinical value and safety of invasive prenatal diagnosis of twin pregnancy. Method Using retrospective method to analyse clinical data of twin pregnancies who with indications of invasive prenatal diagnosis. Results Analyzed invasive prenatal diagnosis 88 cases twin pregnancies, among them, 87 cases of amniocentesis, 1 cases of fetal blood sampling . the actual prenatal diagnosis of number of 169 cases, the detection of fetal abnormalities in 19 cases (11.18%). Among them: ①Screening of DS high risk 29 cases and ES high risk 1 case, check out one of the twins DS 2 cases, the twins were 45,XX,der(13;14) (q10;q10) pat one case. ②Abnormal fetal ultrasound examination in 11 cases, one of the twins was detected 1 case of 69, XXX; 4 cases of 18- trisomy syndrome; one of the twins was 46,XY,t(12;18)(q13;q21)denovo one case. ③20 cases of Advanced Maternal Age among which one of twins DS infants were detected in 2 cases. ④Advanced Maternal Age +DS high risk of 15 cases detection one of twins DS 4 cases. ⑤Single gene genetic disease prenatal diagnosis of 6 cases, of which the thalassemia prenatal diagnosis in 4 cases, twins are hemoglobin H disease 1 case, twins are severe beta thalassemia 1 case of termination of pregnancy. Twin pregnancies were mild alpha Mediterranean anemia 1 cases；Prenatal diagnosis of deafness genes in 2 cases, of which 1 cases of deafness gene double heterozygous mutations, 1 cases of abnormal detection of one of the twins deafness gene abnormalities and the other one with fetal abnormalities , the two cases were selected to terminate the pregnancy. ⑥The other 7 cases. After 1 month’s follow-up, the abortion rate was 0%. Through genetic counseling, 4 cases selected termination of pregnancy, 2 cases selected fetal reduction, 13 cases selected expectant treatment.
-----参考文献：---------------------------------------------------------------------------------------
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黎冬梅,苏洁,章锦蔓,朱宝生,唐新华,李海春,银益飞,冯燕,李开元.双胎妊娠介入性产前诊断临床价值分析.中国产前诊断杂志,2017,9(1):51-56.
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