Grandjean H, Larroque D, Levi S
INSERM, Hôpital La Grave, Toulouse, France.
Ann N Y Acad Sci. 1998 Jun 18;847:136-40. doi: 10.1111/j.1749-6632.1998.tb08934.x.
Chromosomal abnormalities were recorded from all the fetuses of women who benefited from sonographic examinations in the Eurofetus centers, excluding those for whom karyotyping was motivated by age or personal history. Among the 378 chromosomal abnormalities recorded, 210 were detected before birth (sensitivity = 55.6%). Down syndrome (trisomy 21) represented 197 cases, or which 68 were detected before birth (sensitivity = 34.5%). Eighty-two of the cases of Down syndrome had associated structural abnormalities; the sensitivity in these cases increased to 57%. Among the 115 cases of Down syndrome without structural abnormalities, 21 (18.3%) had associated abnormal ultrasound findings that led to prenatal detection. Sensitivity of prenatal detection was 58.1% for trisomy 13 and 79% for trisomy 18. For the abnormalities detected before birth, spontaneous fetal death occurred in 27% of cases, and an early termination of pregnancy was decided in 53% of cases.
对欧洲胎儿中心接受超声检查的女性所怀的所有胎儿记录染色体异常情况，不包括因年龄或个人病史而进行核型分析的胎儿。在记录的378例染色体异常中，210例在出生前被检测到（敏感性=55.6%）。唐氏综合征（21三体）占197例，其中68例在出生前被检测到（敏感性=34.5%）。82例唐氏综合征病例伴有结构异常；这些病例的敏感性增至57%。在115例无结构异常的唐氏综合征病例中，21例（18.3%）伴有异常超声表现，从而得以产前检测。13三体的产前检测敏感性为58.1%，18三体为79%。对于出生前检测到的异常情况，27%的病例发生自然胎儿死亡，53%的病例决定早期终止妊娠。
