Obstet Gynecol. 2001 May;97(5 Pt 1):suppl 1-12.
The prevalence of chromosomal abnormalities in clinically recognized early pregnancy loss is approximately 50% (1). Aneuploid fetuses account for 6-11% of all stillbirths and neonatal deaths (2). Chromosome defects compatible with life but causing significant morbidity occur in 0.65% of newborns, and another 0.2% have structural chromosomal rearrangements that will eventually affect reproduction (3). Although it is not possible to identify all aneuploidies antenatally, screening and diagnostic programs to detect the most common autosomal trisomy in liveborn infants, Down syndrome, are well established. This document will provide clinical management guidelines for the prenatal detection of these aneuploidies.
临床诊断的早期妊娠丢失中染色体异常的发生率约为50%（1）。非整倍体胎儿占所有死产和新生儿死亡的6 - 11%（2）。与生命相容但导致严重发病的染色体缺陷发生在0.65%的新生儿中，另有0.2%有结构性染色体重排，最终会影响生殖（3）。虽然不可能在产前识别所有非整倍体，但检测活产婴儿中最常见的常染色体三体——唐氏综合征的筛查和诊断方案已经很成熟。本文将提供这些非整倍体产前检测的临床管理指南。
