Willner J P
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.
Mt Sinai J Med. 1998 May;65(3):173-7.
Rapid and safe prenatal diagnosis has become the standard of care in high-risk pregnancy. The safety and reliability of prenatal diagnosis by mid-trimester amniocentesis and first-trimester chorionic villus sampling (CVS) are reviewed, and accepted medical indications for referral are defined for both procedures. Techniques for evaluating the fetus for abnormality including amniocentesis, CVS, ultrasound, percutaneous umbilical blood sampling, fetal biopsy, amniotic fluid alpha-fetoprotein analysis, and maternal serum screening are described. The need for appropriate prenatal genetic counseling before any diagnostic modality is emphasized.
快速且安全的产前诊断已成为高危妊娠的护理标准。本文回顾了孕中期羊膜穿刺术和孕早期绒毛取样（CVS）进行产前诊断的安全性和可靠性，并明确了这两种操作的公认医学转诊指征。描述了用于评估胎儿是否异常的技术，包括羊膜穿刺术、绒毛取样、超声检查、经皮脐血取样、胎儿活检、羊水甲胎蛋白分析和母体血清筛查。强调了在采用任何诊断方式之前进行适当产前遗传咨询的必要性。
