Baumann C, Delagarde R, Vuillard E, Oury J-F
Unité fonctionnelle de Génétique Médicale, Hôpital Robert Debré, Paris.
J Gynecol Obstet Biol Reprod (Paris). 2005 Feb;34(1 Suppl):S97-102. doi: 10.1016/s0368-2315(05)82695-x.
The aim of this study was to investigate outcome at the age of two years for infants without known chromosomal anomalies who presented increased nuchal translucency (NT) at first trimester ultrasound examinations. One hundred fifty-one infants with NT measuring 3mm or more, between 12 and 16 weeks gestation, were followed for at least 24 months. A homogeneous pediatric examination was applied. Among these 151 infants, thirteen (8%) had a major isolated malformation. Five infants (3.3%) had chromosomal anomalies which were unrecognized on fetal karyotype owing to tissue mosaic in two and to cryptic chromosomal anomalies in three. At the age of two years, 16 children (10%) presented psychomotor retardation as part of a genetic syndrome, half of them had an associated cardiac malformation. We did not find any specific ultrasound characteristics which could be used to distinguish fetuses with impaired neurological prognosis. Newborns who presented NT at the first trimester ultrasound examination constitute a high risk population, particularly for psychomotor retardation which is not always recognized during the neonatal period. Careful pediatric follow up is required during childhood.
本研究旨在调查孕早期超声检查时颈部透明带（NT）增厚但无已知染色体异常的婴儿两岁时的结局。151例妊娠12至16周时NT测量值为3mm或更高的婴儿接受了至少24个月的随访。进行了统一的儿科检查。在这151例婴儿中，13例（8%）有主要的孤立畸形。5例婴儿（3.3%）有染色体异常，其中2例因组织嵌合、3例因隐匿性染色体异常而在胎儿核型分析中未被识别。两岁时，16名儿童（10%）出现精神运动发育迟缓，作为一种遗传综合征的一部分，其中一半伴有心脏畸形。我们未发现任何可用于区分神经预后受损胎儿的特定超声特征。孕早期超声检查时出现NT增厚的新生儿构成高危人群，尤其是对于精神运动发育迟缓，而这在新生儿期并不总是能被识别。儿童期需要进行仔细的儿科随访。
