title: Ultrasound imaging of fetal neck anomalies: implications for the risk of aneuploidy and structural anomalies.
abstract: This study summarizes 24,000 transvaginal ultrasound examinations which were performed in a predominantly low-risk population at 14-16 weeks' gestation. 1254 (5.2 per cent) fetuses had a nuchal fold or a non-septated cystic hygroma. Of these fetuses, 140 (11.1 per cent) had additional structural anomalies. Cardiovascular anomalies were the most commonly detected structural malformations. Forty-three (3.4 per cent) fetuses were aneuploid. Trisomy 21 was the most common chromosomal anomaly (n = 27). Aneuploidy was significantly more common in fetuses who had a nuchal finding and an associated structural anomaly. The prevalence of nuchal fold and non-septated cystic hygroma, as well as the incidence of their associated structural anomalies, was similar. Based on these data, it is concluded that a complete ultrasonic survey of the fetus and karyotyping are advocated in fetuses with a nuchal abnormality, irrespective of maternal age or triple serum screening results.
authors.affiliation: Department of Obstetrics and Gynecology, Rambam Medical Center-Technion Faculty of Medicine, Haifa, Israel.
authors.forename: E Z
authors.initials: EZ
authors.lastname: Zimmer
authors.forename: A
authors.initials: A
authors.lastname: Drugan
authors.forename: C
authors.initials: C
authors.lastname: Ofir
authors.forename: S
authors.initials: S
authors.lastname: Blazer
authors.forename: M
authors.initials: M
authors.lastname: Bronshtein
mesh_terms: D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D009333:Neck / Q000002:abnormalities*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012307:Risk Factors; D016216:Ultrasonography, Prenatal