Brady A F, Pandya P P, Yuksel B, Greenough A, Patton M A, Nicolaides K H
Medical Genetics Unit, St George's Hospital Medical School, London, UK.
J Med Genet. 1998 Mar;35(3):222-4. doi: 10.1136/jmg.35.3.222.
The aim of this study was to determine the outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation. Clinical follow up of 89 chromosomally normal livebirths that in fetal life had a minimum nuchal translucency thickness of 3.5 mm and a comparison group of 302 infants whose fetal nuchal translucency thickness at 10-14 weeks of gestation was less than 3.5 mm was performed. Major abnormalities, mainly structural defects of the cardiovascular or skeletal systems, were found in 10.1% (nine of 89) of the group with increased translucency, compared to 2% (five of 302) in those with translucency of less than 3.5 mm (chi2=11.9, p<0.001). Delay in achievement of developmental milestones was observed in one of the infants with increased translucency and in one of the comparison group. The findings of this study show that in chromosomally normal fetuses increased nuchal translucency thickness at 10-14 weeks of gestation is a marker for fetal abnormalities including structural defects and genetic syndromes.
本研究的目的是确定妊娠10 - 14周时胎儿颈部半透明层增厚但染色体正常的活产儿的结局。对89例染色体正常的活产儿进行了临床随访，这些胎儿在孕期颈部半透明层厚度至少为3.5毫米，同时设立了一个对照组，包含302例婴儿，其妊娠10 - 14周时胎儿颈部半透明层厚度小于3.5毫米。颈部半透明层增厚组中10.1%（89例中的9例）发现有主要异常，主要是心血管或骨骼系统的结构缺陷，而颈部半透明层厚度小于3.5毫米组中这一比例为2%（302例中的5例）（卡方检验χ2 = 11.9，p < 0.001）。颈部半透明层增厚组的1例婴儿和对照组的1例婴儿出现了发育里程碑延迟的情况。本研究结果表明，对于染色体正常的胎儿，妊娠10 - 14周时颈部半透明层厚度增加是胎儿异常的一个标志物，包括结构缺陷和遗传综合征。
