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高龄孕产妇产前诊断前的遗传咨询:一项重要的医疗保障措施。

Genetic counseling before prenatal diagnosis for advanced maternal age: an important medical safeguard.

作者信息

Rubin S P, Malin J, Maidman J

出版信息

Obstet Gynecol. 1983 Aug;62(2):155-9.

PMID:6866356
Abstract

Genetic counseling before amniocentesis has been advocated by many geneticists with little evidence to support their contention. Records of patients referred exclusively for advanced maternal age were evaluated for additional diagnostic information obtained from the genetic counseling process that could place these patients at additional risks for previously unsuspected fetal abnormalities. A significant number of patients (43.3%) were at additional risk or had significant concerns regarding one or more hereditary or congenital disorders requiring extensive genetic counseling. The results of the present study provide a scientific basis for the consideration of genetic counseling as a standard part of all prenatal diagnostic procedures.

摘要

许多遗传学家主张在羊膜穿刺术前进行遗传咨询,但几乎没有证据支持他们的观点。对仅因高龄产妇转诊的患者记录进行评估,以获取从遗传咨询过程中获得的额外诊断信息,这些信息可能使这些患者面临先前未被怀疑的胎儿异常的额外风险。相当一部分患者(43.3%)面临额外风险,或对一种或多种需要广泛遗传咨询的遗传性或先天性疾病存在重大担忧。本研究结果为将遗传咨询视为所有产前诊断程序的标准组成部分提供了科学依据。

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Genetic counseling before prenatal diagnosis for advanced maternal age: an important medical safeguard.高龄孕产妇产前诊断前的遗传咨询:一项重要的医疗保障措施。
Obstet Gynecol. 1983 Aug;62(2):155-9.
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引用本文的文献

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Patterns of the utilization of prenatal diagnosis services among pregnant women, their satisfaction and its associated factors in Viet Nam.越南孕妇产前诊断服务的利用模式、她们的满意度及其相关因素。
Int J Public Health. 2017 Feb;62(Suppl 1):35-40. doi: 10.1007/s00038-016-0925-6. Epub 2016 Nov 23.
2
Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.高龄孕产妇接受侵入性产前诊断的态度及遗传咨询的影响
Eur J Hum Genet. 2016 Mar;24(3):331-7. doi: 10.1038/ejhg.2015.116. Epub 2015 May 27.
3
Practice variability in prenatal genetic counseling.
J Genet Couns. 1994 Sep;3(3):215-31. doi: 10.1007/BF01412228.
4
Prenatal genetic counselling.产前遗传咨询。
Can Fam Physician. 1986 Oct;32:2149-52.
5
The utility of genetic counseling prior to offering first trimester screening options.在提供孕早期筛查选项之前进行遗传咨询的效用。
J Genet Couns. 2009 Aug;18(4):395-400. doi: 10.1007/s10897-009-9230-3. Epub 2009 May 28.
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Congenital anomalies and genetic disorders in families of children with central nervous system tumours.中枢神经系统肿瘤患儿家庭中的先天性异常和遗传疾病。
J Med Genet. 1995 Aug;32(8):627-32. doi: 10.1136/jmg.32.8.627.