Increased nuchal translucency in the presence of normal chromosomes
| Autor: | Morris Fiddler, Eugene Pergament, Christina Alamillo |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Heart Defects
Congenital Down syndrome medicine.medical_specialty Heart malformation Karyotype Chromosome Disorders Genetic Counseling Congenital Abnormalities Electrocardiography Pregnancy Prenatal Diagnosis Nuchal Translucency Measurement medicine Humans Increased nuchal translucency Fetus business.industry Obstetrics Noonan Syndrome Obstetrics and Gynecology medicine.disease Pregnancy Trimester First Noonan syndrome Female business Trisomy |
| Zdroj: | Current Opinion in Obstetrics & Gynecology. 24:102-108 |
| ISSN: | 1040-872X |
| DOI: | 10.1097/gco.0b013e3283505b25 |
| Popis: | Purpose of review First trimester screening is presently offered to all pregnant women as a means of prenatal screening for Down syndrome, trisomy 18, and trisomy 13. Nuchal translucency measurement is a fundamental component of the screening protocol. A woman whose fetus' nuchal translucency is greater than the 95th percentile is also at increased risk for a multiplicity of other adverse pregnancy and pediatric outcomes, and as a consequence, counseling of patients about their testing options and range of pregnancy outcomes has become complex and difficult. Recent findings The increased risk for chromosome abnormalities, congenital heart malformations, and pregnancy loss in the presence of an increased nuchal translucency is well documented. What has not been clearly defined is the incidence of other genetic syndromes, congenital defects, and adverse pregnancy and pediatric outcomes in the presence of increased nuchal translucency. Currently, Noonan syndrome is the only molecular genetic condition that has been shown to have a clear association with the finding of increased nuchal translucency in the first trimester. Summary This article reviews the current literature on outcomes in pregnancies with an increased nuchal translucency and a normal karyotype. We summarize the range of outcomes detected in the first trimester with recommendations for further prenatal testing and counseling of patients. |
| Databáze: | OpenAIRE |
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