Prenatal sonographic features of trisomy 1q

✍ Scribed by Joseph R. Wax; Molly Carpenter; Renée Chard; Angelina Cartin; Michael G. Pinette; Jacquelyn Blackstone

• Book ID: 102334322
• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 244 KB
• Volume: 36
• Category: Article
• ISSN: 0091-2751
• DOI: 10.1002/jcu.20371

✦ Synopsis

Abstract

We describe the sonographic features of trisomy 1q in 2 affected fetuses and identify 17 other published reports of this entity in the literature. Four of 5 (80%) diagnoses made at ≤14 weeks' gestation demonstrated increased nuchal translucency or cystic hygroma colli. During the second and third trimesters, findings included cerebral ventriculomegaly (n = 8 [57%]), nuchal skin fold ≥6 mm or cystic hygroma colli (n = 5 [36%]), urinary anomalies (n = 5 [36%]), digit malformations (n = 5 [36%]), and abnormal amniotic fluid volume (n = 6 [40%]). Findings in trisomy 1q may be influenced by coexisting chromosomal deletions or mosaicism. Sonographic features generally reflect the location and size of the 1q duplication. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008