Vigneswaran Trisha V, Homfray Tessa, Allan Lindsey D, Simpson John M, Zidere Vita
a Harris Birthright Research Centre for Fetal Medicine, Fetal Medicine Research Institute, King's College Hospital , Denmark Hill, London , UK.
b Department of Congenital Heart Disease , Evelina London Children's Hospital, Guy's & St Thomas' NHS Trust , London , UK.
J Matern Fetal Neonatal Med. 2018 Sep;31(18):2376-2380. doi: 10.1080/14767058.2017.1342804. Epub 2017 Jul 4.
To describe the outcome of fifteen cases with an elevated nuchal translucency (NT) which persisted into the second trimester as nuchal edema (NE) >6 mm whom underwent fetal echocardiography.
Cases were identified following retrospective review of cardiac and genetic findings in fetuses with NE.
Minor congenital heart disease was identified in 3/15 by the second trimester. Agenesis of the ductus venosus was evident in four. Pulmonary valve stenosis was diagnosed in one fetus at the 20-week scan and hypertrophic cardiomyopathy in one. However, hypertrophic cardiomyopathy or pulmonary valve stenosis was present after birth in all surviving cases by 3 months of age. On the basis of intention to treat, 11/12 survived to delivery and 9/12 survived to 28 days. There were 6 deaths before 14 months of age as a result of severe hypertrophic cardiomyopathy. Noonan syndrome was confirmed with genetic testing in 11/15 cases.
All fetuses with NT and NE had evidence of congenital heart disease at birth, and therefore, late gestation and postnatal review is recommended even when second trimester echocardiogram is considered normal. There is a high prevalence of Noonan syndrome and targeted genetic analysis should be considered. The outcome in these cases is poor.
描述15例颈部半透明层（NT）增厚并持续至孕中期形成颈部水肿（NE）且厚度>6mm的胎儿接受胎儿超声心动图检查后的结果。
通过回顾性分析患有NE的胎儿的心脏和基因检查结果来确定病例。
孕中期在15例中有3例被诊断出患有轻度先天性心脏病。4例可见静脉导管缺如。在20周超声检查时，1例胎儿被诊断为肺动脉瓣狭窄，1例为肥厚型心肌病。然而，所有存活病例在出生后3个月时均出现肥厚型心肌病或肺动脉瓣狭窄。基于意向性治疗分析，12例中有11例存活至分娩，12例中有9例存活至28天。有6例因严重肥厚型心肌病在14个月龄前死亡。15例中有11例经基因检测确诊为努南综合征。
所有患有NT和NE的胎儿在出生时均有先天性心脏病的证据，因此，即使孕中期超声心动图检查结果正常，也建议在孕晚期及产后进行复查。努南综合征的患病率较高，应考虑进行针对性的基因分析。这些病例的预后较差。
