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产前诊断与胎儿治疗。

Prenatal diagnosis and fetal therapy.

作者信息

Nicolini U

机构信息

1st Department of Obstetrics and Gynecology, University of Milano, Italy.

出版信息

Curr Opin Obstet Gynecol. 1993 Feb;5(1):50-5.

PMID:8425035
Abstract

The protective effect of folic acid supplementation has been demonstrated in patients at risk of neural tube defects by a large, randomized double-blind study. The feasibility of second-trimester screening for Down syndrome, based on the combination of maternal and biochemical markers on maternal blood, has also been verified in two large series from both the United Kingdom and the United States. These results represent major advances in the field of prenatal diagnosis, which, in the future, is likely to rely more and more on better selection by noninvasive testing of high-risk patients. The emphasis has moved away from very early invasive testing due to concerns related to the safety of both early chorionic villus sampling and amniocentesis. Evaluation of renal damage in fetuses with obstructive uropathy by analysis of urinary biochemistry may constitute the basis for more efficient selection of cases amenable to antenatal treatment. Twin-to-twin transfusion syndrome remains a challenge for the future.

摘要

一项大型随机双盲研究已证实,补充叶酸对有神经管缺陷风险的患者具有保护作用。基于孕妇血液中的母体和生化标志物组合进行孕中期唐氏综合征筛查的可行性,也已在来自英国和美国的两个大型系列研究中得到验证。这些结果代表了产前诊断领域的重大进展,未来,产前诊断可能会越来越依赖于通过对高危患者进行非侵入性检测来更好地进行筛选。由于担心早期绒毛取样和羊膜穿刺术的安全性,重点已从非常早期的侵入性检测转移。通过分析尿液生物化学评估患有梗阻性肾病胎儿的肾损伤,可能为更有效地选择适合产前治疗的病例奠定基础。双胎输血综合征仍然是未来面临的一项挑战。

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