Persistently elevated nuchal translucency and the fetal heart
| Autor: | Lindsey D. Allan, Vita Zidere, John M. Simpson, Tessa Homfray, Trisha V. Vigneswaran |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Heart Defects Congenital Male medicine.medical_specialty Heart disease 030204 cardiovascular system & hematology Ultrasonography Prenatal 03 medical and health sciences 0302 clinical medicine Fetal Heart Pregnancy Internal medicine Prevalence Medicine Humans Genetic Testing Retrospective Studies Fetus 030219 obstetrics & reproductive medicine Intention-to-treat analysis business.industry Noonan Syndrome Hypertrophic cardiomyopathy Infant Newborn Obstetrics and Gynecology Infant medicine.disease Agenesis Pregnancy Trimester Second Pediatrics Perinatology and Child Health Pulmonary valve stenosis Cardiology Noonan syndrome Female business Nuchal Translucency Measurement Ductus venosus |
| Zdroj: | The journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 31(18) |
| ISSN: | 1476-4954 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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