Kagan Karl Oliver, Avgidou Kyriaki, Molina Francisca S, Gajewska Katarzyna, Nicolaides Kypros H
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, United Kingdom.
Obstet Gynecol. 2006 Jan;107(1):6-10. doi: 10.1097/01.AOG.0000191301.63871.c6.
To examine the prevalence and distribution of all chromosomal defects in fetuses with increased nuchal translucency thickness.
Assessment of risk for trisomy 21 was carried out by a combination of maternal age and fetal nuchal translucency thickness at 11-13 + 6 weeks. A search of the database was made to identify, first, all singleton pregnancies in which fetal karyotyping was carried out and, second, the cases where the fetal nuchal translucency was equal to or above the 95th centile for fetal crown-rump length. The prevalence and distribution of chromosomal defects were determined for each nuchal translucency category: between the 95th centile for crown-rump length and 3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, 6.5-7.4 mm, 7.5-8.4 mm, 8.5-9.4 mm, 9.5-10.4 mm, 10.5-11.4 mm, and 11.5 mm or more.
The search identified 11,315 pregnancies. The median maternal age was 34.5 (range 15-50) years, and the median fetal crown-rump length was 64 (range 45-84) mm. The fetal karyotype was abnormal in 2,168 (19.2%) pregnancies, and the incidence of chromosomal defects increased with nuchal translucency thickness from approximately 7% for those with nuchal translucency between the 95th centile for crown-rump length and 3.4 mm to 75% for nuchal translucency of 8.5 mm or more. In the majority of fetuses with trisomy 21, the nuchal translucency thickness was less then 4.5 mm, whereas in the majority of fetuses with trisomies 13 or 18 it was 4.5-8.4 mm, and in those with Turner syndrome it was 8.5 mm or more.
In fetuses with increased nuchal translucency, approximately one half of the chromosomally abnormal group is affected by defects other than trisomy 21. The distribution of nuchal translucency is different for each type of chromosomal defect.
II-3.
研究颈部半透明层厚度增加的胎儿中所有染色体缺陷的患病率及分布情况。
通过结合孕妇年龄和孕11 - 13⁺⁶周时胎儿颈部半透明层厚度来评估21三体综合征的风险。首先在数据库中搜索所有进行了胎儿核型分析的单胎妊娠，其次搜索胎儿颈部半透明层厚度等于或高于胎儿头臀长第95百分位数的病例。确定每个颈部半透明层类别（头臀长第95百分位数与3.4毫米之间、3.5 - 4.4毫米、4.5 - 5.4毫米、5.5 - 6.4毫米、6.5 - 7.4毫米、7.5 - 8.4毫米、8.5 - 9.4毫米、9.5 - 10.4毫米、10.5 - 11.4毫米以及11.5毫米及以上）中染色体缺陷的患病率及分布情况。
搜索到11315例妊娠。孕妇年龄中位数为34.5岁（范围15 - 50岁），胎儿头臀长中位数为64毫米（范围45 - 84毫米）。2168例（19.2%）妊娠的胎儿核型异常，染色体缺陷的发生率随着颈部半透明层厚度增加而升高，从颈部半透明层厚度在头臀长第95百分位数与3.4毫米之间的约7%增加到8.5毫米及以上的75%。在大多数21三体胎儿中，颈部半透明层厚度小于4.5毫米，而在大多数13或18三体胎儿中，该厚度为4.5 - 8.4毫米，在特纳综合征胎儿中则为8.5毫米及以上。
在颈部半透明层厚度增加的胎儿中，染色体异常组中约一半受21三体以外的缺陷影响。每种染色体缺陷的颈部半透明层分布不同。
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