title: Increased nuchal translucency with normal karyotype and anomaly scan: what next?
abstract: Over the years, it has become clear that increased nuchal translucency is a marker for chromosomal abnormalities, and it is also associated with a wide spectrum of structural anomalies, genetic syndromes, a higher risk of miscarriage, and intrauterine fetal death. These risks are all proportionally related to the degree of nuchal translucency enlargement. After the initial assessment of increased nuchal translucency, parents should be counselled by the fetal medicine specialist about the possible outcomes and the value of additional karyotyping and array comparative genomic hybridisation. A detailed late first-trimester and subsequent 20-week scan should aim at identifying structural anomalies, with special focus on the fetal heart and subtle dysmorphic features. In the absence of structural anomalies or markers, the chance of a favourable outcome is high.
authors: Department of Obstetrics and Gynecology, Fetal Medicine Unit, University of Groningen, University Medical Centre Groningen, CB20, PO Box 30.001, 9700 RB Groningen, The Netherlands. Electronic address: merelbakker@gmail.com.
authors: Merel
authors: M
authors: Bakker
authors: Department of Obstetrics and Gynecology, Fetal Medicine Unit, Academic Medical Centre, PO Box 22.660, 1100 DD, Amsterdam, The Netherlands.
authors: Eva
authors: E
authors: Pajkrt
authors: Department of Obstetrics and Gynecology, Fetal Medicine Unit, University of Groningen, University Medical Centre Groningen, CB20, PO Box 30.001, 9700 RB Groningen, The Netherlands.
authors: Caterina M
authors: CM
authors: Bilardo
mesh_terms: D000465:Algorithms; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D002658:Developmental Disabilities / Q000453:epidemiology; D004314:Down Syndrome / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D059785:Karyotype; D009634:Noonan Syndrome / Q000453:epidemiology / Q000235:genetics; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second
keywords: developmental delay; increased nuchal translucency; normal karyotype; prenatal screening