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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 novo1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。
Objective To investigate the clinical value and safety of interventional prenatal diagnosis of twin pregnancy. Methods The retrospective analysis method was used to analyze the clinical data of pregnant women with twins who had indications of interventional prenatal diagnosis. Results Interventional prenatal diagnosis of 88 cases of twin pregnancy, of which 87 cases of amniocentesis, umbilical cord blood puncture in 1 case. The actual number of prenatal diagnosis of fetus in 169 cases, detected abnormal fetus in 19 cases (11.18%). Among them, (1) prenatal screening was performed in 29 cases with high risk of DS, 1 case of high risk of ES, 2 cases of DS with high risk of detecting DS in prenatal diagnosis, and all the twins were detected as 45, XX, der (13; 14 ) (q10; q10) pat. (2) Abnormal fetal ultrasound examination in 11 cases, detected one of the twins 69, XXX 1 case; 18-trisomy in 4 cases; one of the twins 46 XY, t (12,18) (q13; q21) de novo1 example. (3) 20 cases of advanced age, one of the twins was detected in 2 cases of DS children. (4) 15 cases of senile + DS high-risk, detected one twin twins in 4 cases. (5) 6 cases of prenatal diagnosis of monogenic disease, including 4 cases of prenatal diagnosis of thalassemia, 1 case of hemoglobin H disease in twins and 1 case of severe β-thalassemia. All the twins 1 case of light α-thalassemia. Prenatal diagnosis of deafness gene in 2 cases, including 1 case of deafness gene double heterozygous mutation, 1 case detected twins deafness gene abnormalities, one of the fetal structural abnormalities were selected termination of pregnancy. (6) the other seven cases. One month after the operation, abortion rate was 0. After the genetic counseling 4 cases choose termination of pregnancy, 2 cases of choice of abortion, 13 cases of expectant treatment. Conclusion Interventional prenatal diagnosis is a safe and effective method to detect fetal chromosomal abnormalities and single-gene genetic diseases during twins prenatal period, which can effectively prevent birth defects and has great clinical practical value.