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[产前诊断的进展]

[Progress in prenatal diagnosis].

作者信息

Fuhrmann W

机构信息

Institut für Humangenetik der Justus-Liebig-Universität Giessen.

出版信息

Monatsschr Kinderheilkd. 1989 Mar;137(3):124-9.

PMID:2654618
Abstract

Prenatal diagnosis is primarily the task of the obstetrician and clinical geneticist, but it must concern the pediatrician as well. It may give advance warning of postnatal problems and yield information that is valuable in the care of the newborn. Moreover, the pediatrician may be called upon to judge the prognosis of a child with a prenatally detected anomaly and prenatal therapy might be considered. Recent progress in prenatal diagnosis concerns sonography, including fetal blood sampling and biopsy; early detection of neural tube defects by alpha-fetoprotein and acetylcholinesterase determination (ACHE test); first trimester diagnosis of chromosome anomalies and inborn errors of metabolism; and prenatal DNA analysis. Technical progress in prenatal diagnosis improves the reliability of prognosis and genetic counselling, but also adds to existing ethical problems and may create new ones.

摘要

产前诊断主要是产科医生和临床遗传学家的任务,但儿科医生也必须予以关注。它可以提前预警产后问题,并提供对新生儿护理有价值的信息。此外,可能会要求儿科医生判断产前检测出异常的儿童的预后情况,并考虑产前治疗。产前诊断的最新进展涉及超声检查,包括胎儿血液采样和活检;通过甲胎蛋白和乙酰胆碱酯酶测定(ACHE检测)早期检测神经管缺陷;孕早期诊断染色体异常和先天性代谢缺陷;以及产前DNA分析。产前诊断的技术进步提高了预后判断和遗传咨询的可靠性,但也增加了现有的伦理问题,并可能产生新的伦理问题。

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