Hyett J A, Moscoso G, Nicolaides K H
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, United Kingdom.
Am J Obstet Gynecol. 1995 May;172(5):1411-3. doi: 10.1016/0002-9378(95)90470-0.
Our purpose was to determine the incidence of cardiac septal defects in fetuses with trisomy 21 diagnosed by increased nuchal translucency thickness at 10 to 13 weeks' gestation.
Pathologic examination of the fetal heart was performed in 36 fetuses with trisomy 21 after suction termination of pregnancy at 12 to 15 weeks' gestation. The diagnosis of trisomy 21 was made by chorion villus sampling because of increased (> or = 3 mm) fetal nuchal translucency thickness detected at routine first-trimester ultrasonographic examination.
Perimembranous ventricular and atrioventricular septal defects were detected in 20 of 36 fetal hearts. A septal defect was observed in 1 of the 11 fetuses with nuchal translucency thickness of 3 mm and in 19 of the 25 with translucency > or = 4 mm (p < 0.001).
The incidence of ventricular and atrioventricular septal defects is much higher in fetuses with trisomy 21 and increased nuchal translucency thickness at 10 to 13 weeks' gestation than in live-born infants with this chromosomal abnormality. The incidence of cardiac septal defects increases with nuchal translucency thickness.
我们的目的是确定在妊娠10至13周时因颈部半透明层厚度增加而被诊断为21三体综合征的胎儿中心脏间隔缺损的发生率。
对36例21三体综合征胎儿在妊娠12至15周时进行人工流产终止妊娠后进行胎儿心脏病理检查。21三体综合征的诊断是通过绒毛取样做出的，因为在常规孕早期超声检查中检测到胎儿颈部半透明层厚度增加（≥3 mm）。
36例胎儿心脏中有20例检测到膜周部室间隔缺损和房室间隔缺损。11例颈部半透明层厚度为3 mm的胎儿中有1例观察到间隔缺损，25例半透明层厚度≥4 mm的胎儿中有19例观察到间隔缺损（p<0.001）。
与患有这种染色体异常的活产婴儿相比，妊娠10至13周时21三体综合征且颈部半透明层厚度增加的胎儿中室间隔缺损和房室间隔缺损的发生率要高得多。心脏间隔缺损的发生率随颈部半透明层厚度增加而升高。
