Szabó J, Gellén J, Szemere G
Department of Obstetrics and Gynecology, Albert Szent-Györgyi Medical University, Szeged, Hungary.
Ultrasound Obstet Gynecol. 1995 Mar;5(3):161-3. doi: 10.1046/j.1469-0705.1995.05030161.x.
In a prospective screening study, the utility of the thickness of first-trimester simple hygroma in sonographic screening for fetal chromosomal aberrations was examined. A total of 3380 women, 1280 of whom were 35 years or over, and 2100 of whom were under 35 years, were screened by ultrasound at 9-12 weeks of gestation. The thickness of fetal nuchal simple hygroma was measured. Women over 35 years of age underwent transabdominal chorionic villus sampling (CVS). In women under 35 years of age, CVS was offered only if the thickness of nuchal hygroma was at least 3 mm, or in cases of parental chromosomal abnormalities. A total of 46 chromosomal anomalies were detected, of which 43 (93.5%) showed simple hygroma. The incidence of first-trimester simple nuchal hygroma in pregnancies of women over 35 and under 35 years of age was 5.4% (69 cases) and 1.28% (27 cases), respectively, and the percentage of chromosomal abnormalities was 2.9% and 0.43%, respectively. The risks of trisomies and poor pregnancy outcome were increased at larger sizes of first-trimester simple hygroma. A sensitivity of 93.5% and a specificity of 98.4% of the method were found. Using a measurement of first-trimester simple hygroma of > or = 3 mm to identify pregnancies at risk for chromosomal anomalies at 9-12 weeks of pregnancy is a useful method for selection of women with high and low risk for aneuploidy.
在一项前瞻性筛查研究中，对孕早期单纯颈项透明层厚度在胎儿染色体异常超声筛查中的效用进行了检测。共有3380名女性接受了超声筛查，其中1280名年龄在35岁及以上，2100名年龄在35岁以下，筛查时间为妊娠9至12周。测量了胎儿颈项部单纯透明层的厚度。35岁以上的女性接受经腹绒毛取样（CVS）。35岁以下的女性，只有在颈项透明层厚度至少为3mm或存在父母染色体异常的情况下才进行CVS。共检测到46例染色体异常，其中43例（93.5%）表现为单纯透明层增厚。35岁及以上和35岁以下女性妊娠中孕早期单纯颈项透明层增厚的发生率分别为5.4%（69例）和1.28%（27例），染色体异常的百分比分别为2.9%和0.43%。孕早期单纯颈项透明层增厚越大，三体综合征和不良妊娠结局的风险越高。该方法的敏感性为93.5%，特异性为98.4%。使用孕早期单纯颈项透明层厚度≥3mm来识别妊娠9至12周时染色体异常风险的妊娠，是一种选择非整倍体高风险和低风险女性的有用方法。
