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[遗传羊膜腔穿刺术:1000例孕早期羊膜腔穿刺术的技术与结果(作者译)]

[Genetic amniocentesis: technique and results in 1,000 first trimester amniocenteses (author's transl)].

作者信息

Schmidt W, Gabelmann J, Müller U, Voigtländer T, Hager H D, Schroeder T M, Garoff L, Kubli F

出版信息

Geburtshilfe Frauenheilkd. 1980 Sep;40(9):761-8. doi: 10.1055/s-2008-1039329.

Abstract

The results of 1,000 transabdominal amniocenteses between 15 and 20 weeks gestation are reported. The method is described. The bio-chemical and cytogenetic results are reported. - Amniocentesis in the first trimester is not a routine investigation since fetal and maternal risks are associated with this procedure. The risk of abortion following amniocentesis was lowered from 6/1000 to 2/500 by improvement of the technique under ultra-sound control. The worst maternal complication observed was a septic abortion one day after amniocentesis. 96% of all cyto-genetic examinations showed normal karotypes. The largest group at risk were mothers over 35 years of age. In this group chromosome anomalies were found in 17 cases. All neural tube defects were found by determination of the alpha-fetoprotein in the amniotic fluid. 26 terminations of pregnancy for fetal indications were carried out. Two patients refused therapeutic abortions despite trisomy 21 for ethical reasons. One patient continues her pregnancy with a 47 XYZ pregnancy.

摘要

报告了1000例妊娠15至20周经腹羊膜腔穿刺术的结果。描述了该方法。报告了生化和细胞遗传学结果。——孕早期羊膜腔穿刺术并非常规检查,因为该操作存在胎儿和母亲相关风险。通过在超声引导下改进技术,羊膜腔穿刺术后的流产风险从千分之六降至五百分之二。观察到的最严重母亲并发症是羊膜腔穿刺术后一天发生的感染性流产。所有细胞遗传学检查中96%显示核型正常。风险最大的群体是35岁以上的母亲。该群体中发现17例染色体异常。所有神经管缺陷均通过测定羊水甲胎蛋白发现。因胎儿指征进行了26例终止妊娠。两名患者因伦理原因尽管胎儿为21三体仍拒绝治疗性流产。一名患者怀有47, XYZ妊娠仍继续妊娠。

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