Prenatal sonographic features of trisomy 1q.
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 < or = 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 > or = 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.
Wax
Joseph R
JR
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, 887 Congress Street, Suite 200, Portland, ME 04102, USA.
Carpenter
Molly
M
Chard
Renée
R
Cartin
Angelina
A
Pinette
Michael G
MG
Blackstone
Jacquelyn
J
D000025:Abortion, Eugenic; D000293:Adolescent; D000328:Adult; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D014314:Trisomy; D016216:Ultrasonography, Prenatal