Fetal Medicine Unit, King's College Hospital, London, UK.
Early Hum Dev. 2011 Jul;87(7):453-6. doi: 10.1016/j.earlhumdev.2011.01.045. Epub 2011 May 18.
To determine if sonographic features of live embryos at 6-10 weeks' gestation are altered in aneuploidies.
Embryonic crown rump length (CRL), embryonic heart rate, gestational sac diameter (GSD) and yolk sac diameter (YSD) were measured by transvaginal sonography in 5603 live embryos from singleton pregnancies at 6-10 weeks' gestation. The measurements were expressed as differences from the expected normal mean for CRL (delta values) and median delta values in the aneuploid cases were compared to the euploid group.
5393 pregnancies resulted in the live birth of phenotypically normal neonates and these cases constituted the euploid group. In 55 cases there was subsequent prenatal diagnosis of aneuploidies (trisomy 21, n=28; trisomy 18, n=10; trisomy 13, n=10; triploidy, n=4; Turner syndrome, n=3). The median and interquartile range (IQR) of delta embryonic heart rate in trisomy 18 was -19.44 (-23.77 to -7.20)bpm and in trisomy 13 it was 11.12 (7.25 to 20.39)bpm, which were significantly lower and higher, respectively, than in euploid embryos (median -0.05, IQR -6.18 to 6.21bpm). The median delta YSD in trisomy 21 was higher than in euploid fetuses (median 0.56, IQR 0.23 to 0.79 and median -0.17, IQR -3.11 to 2.82 mm). There were no other significant differences in measurements between the groups.
At 6-10 weeks' gestation there are sonographically detectable differences between euploid and trisomic embryos.
确定 6-10 孕周活胎胚胎的超声特征在非整倍体中的是否发生改变。
对 5603 例 6-10 孕周单胎妊娠的活胎进行经阴道超声检查，测量胚胎头臀长（CRL）、胚胎心率、孕囊直径（GSD）和卵黄囊直径（YSD）。测量值以与 CRL 预期正常均值的差异（delta 值）表示，在非整倍体病例中，中位数 delta 值与整倍体组进行比较。
5393 例妊娠最终分娩出表型正常的新生儿，这些病例构成整倍体组。55 例随后产前诊断为非整倍体（21 三体，n=28；18 三体，n=10；13 三体，n=10；三倍体，n=4；特纳综合征，n=3）。18 三体的中位和四分位间距（IQR）delta 胚胎心率为-19.44（-23.77 至-7.20）bpm，13 三体的中位和 IQR 为 11.12（7.25 至 20.39）bpm，分别显著低于和高于整倍体胚胎（中位数-0.05，IQR-6.18 至 6.21bpm）。21 三体的中位 delta YSD 高于整倍体胎儿（中位数 0.56，IQR 0.23 至 0.79 和中位数-0.17，IQR-3.11 至 2.82mm）。两组间其他测量值无显著差异。
在 6-10 孕周，整倍体和三体胚胎之间存在超声可检测的差异。
