Relation between increased fetal nuchal translucency thickness and chromosomal defects
Relation between increased fetal nuchal translucency thickness and chromosomal defects
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DOI：
10.1097/01.aog.0000191301.63871.c6
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发表时间：
2006-01-01
影响因子：
7.2
通讯作者：
Nicolaides, KH
中科院分区：
文献类型：
--
作者：
Kagan, KO;Avgidou, K;Nicolaides, KH
目的：为了检查所有染色体缺陷的胎儿增加nuchal bronchiucencythicken.METHODS：21三体综合征的风险评估进行了母亲的年龄和胎儿nuchal bronchiucencythickness在11-13 + 6周的组合的患病率和分布。对数据库进行检索，首先确定所有进行胎儿核型分析的单胎妊娠，其次确定胎儿颈透性等于或大于胎儿顶臀长度第95百分位数的病例。确定了每个颈部不透明类别的染色体缺陷的患病率和分布：在头臀长的第95百分位数和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之间，结果：检索确定了11，315例妊娠。母亲年龄中位数为34.5岁（范围15-50）岁，胎儿顶臀长中位数为64 2168例胎儿染色体核型异常（19.2%）怀孕，染色体缺陷的发生率随着颈部透明厚度的增加而增加，对于那些颈部透明在牙冠第95百分位数之间的人，臀长为3.4 mm，颈部开放度为8.5 mm或更大的为75%。在大多数21三体的胎儿中，颈部透明层厚度小于4.5 mm，而在大多数13或18三体的胎儿中，颈部透明层厚度为4.5-8.4 mm，而在Turner综合征的胎儿中，颈部透明层厚度为8.5 mm或更大。在颈项透明性增加的胎儿中，大约一半的染色体异常组受21三体以外的缺陷影响。每种类型的染色体缺陷的颈部不透明的分布是不同的。
OBJECTIVE: To examine the prevalence and distribution of all chromosomal defects in fetuses with increased nuchal translucency thickness.METHODS: 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.RESULTS: 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 4584) 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.CONCLUSION: 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.