遗传性疾病的产前检测。
Prenatal detection of inherited disorders.
作者信息
Dwivedi C
出版信息
J Natl Med Assoc. 1981 Mar;73(3):223-7.
The following is a review of current concepts of prenatal detection. Transabdominal amniocentesis is recognized to be an integral adjunct to prenatal care. The analysis of cultured amniotic fluid cells collected at about 16 weeks of gestation provides in utero diagnosis of nearly all chromosomal aberration syndromes, several metabolic disorders which are due to a specific enzymic deficiency due to single gene disorders, and some multifactorial disorders, such as prenatal diagnosis of neural tube defects by estimation of alphafeto protein in amniotic fluid. Various aspects of amniocentesis are discussed.
以下是对当前产前检测概念的综述。经腹羊膜穿刺术被认为是产前护理中不可或缺的辅助手段。对妊娠约16周时采集的羊水细胞进行培养分析，可为几乎所有染色体畸变综合征、几种由单基因疾病导致的特定酶缺乏引起的代谢紊乱以及一些多因素疾病提供宫内诊断，比如通过测定羊水中的甲胎蛋白对神经管缺陷进行产前诊断。本文将讨论羊膜穿刺术的各个方面。
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