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Prenatal sonographic features of trisomy 1q
Author(s) -
Wax Joseph R.,
Carpenter Molly,
Chard Renée,
Cartin Angelina,
Pinette Michael G.,
Blackstone Jacquelyn
Publication year - 2008
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.20371
Subject(s) - cystic hygroma , trisomy , medicine , prenatal diagnosis , obstetrics , fetus , gestation , amniotic fluid , ultrasound , ventriculomegaly , ultrasonography , pregnancy , gynecology , radiology , genetics , biology
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
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