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350例羊膜腔穿刺术的产前基因诊断

Prenatal genetic diagnosis in 350 amniocenteses.

作者信息

Crandall B F, Lebherz T B

出版信息

Obstet Gynecol. 1976 Aug;48(2):158-62.

PMID:133307
Abstract

Three hundred and fifty second trimester amniocenteses performed for prenatal diagnosis of genetic disorders are reported. One hundred and ninety-three of these were performed because maternal age was greater than 35 years, and 6 fetuses with unbalanced chromosomal abnormalities (3%) were identified. Thirteen procedures were performed because a previous child had had a neural tube defect; 1 anencephalic fetus was identified. Ninety-six percent of the initial taps were cultured successfully; we failed to obtain amniotic fluid in 3% of patients. The risk of a spontaneous abortion occurring at some time after the amniocentesis was 0.85%, and no cases of fetal injury were identified.

摘要

本文报告了350例用于遗传性疾病产前诊断的孕中期羊膜腔穿刺术。其中193例是因为孕妇年龄大于35岁而进行的,发现6例胎儿存在染色体不平衡异常(3%)。13例是因为之前的孩子患有神经管缺陷而进行的,发现1例无脑儿。96%的首次穿刺培养成功;3%的患者未能获取羊水。羊膜腔穿刺术后某一时刻发生自然流产的风险为0.85%,未发现胎儿损伤病例。

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