唐氏综合征(Down’s sysdrone)又称为21-三体综合征,是儿科常见的染色体异常综合征[1],染色体核型为47,XX(XY),+21,其发病率居染色体病之首。本文报告一对夫妇连续生育两胎DS患儿,并探讨其发病机制以及DS的产前诊断对预防出生DS患儿的重要意义。病例:患儿,男,4个月,面容为典型DS面容:眼裂小、眼尾上翘,眼距宽,鼻根低平,颌小,经细胞遗传学检测:核型为47,XY,+21。患者父母主诉:G7P2,前三次妊娠均在2-3月自然流产,第四胎妊娠2月出现先兆流产症状,经保胎后足月出生为DS患儿(为患儿哥,现7岁)。此后患儿母亲又 Down’s sysdrone, also known as 21-trisomy syndrome, is a common pediatric chromosomal abnormality [1], chromosome karyotype 47, XX (XY), + 21, the incidence of chromosomal disease First of all. This paper reports a couple of consecutive children with DS two-fertile children, and to explore the pathogenesis and prenatal diagnosis DS to prevent the birth of DS is of great significance. Cases: children, male, 4 months, the face as a typical DS face: small eyelid, upward tail of the eye, wide ocular anteroposterior, flat nose, small jaw, detected by cytogenetics: Karyotype 47, XY, +21. Patient parents complained: G7P2, the first three pregnancies were spontaneous abortion in February-March, the fourth pregnancy in February showed symptoms of threatened abortion, after birth by full-term birth was DS children (for children brother, now 7 years old) . Since then, children and mothers again