Prenatal sonographic features of trisomy 1q

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 < 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.

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

“…The incidence of developmental delay in children with enlarged NT was 1.2%, which was not statistically different when compared to a control group of 370 unselected infants (Senat et al, 2007). These results are in keeping with the incidence of developmental delay in our series: 1.6% (7/425), of which only 1/3 was not associated with ultrasound features that may have triggered suspicion (0.5%) (Bilardo Wax et al 2008Wax et al et al, 2007. In our experience, all seven cases with developmental delay occurred in fetuses with an NT >4 mm.…”

Prenatal diagnosis of mosaic complete trisomy 1q

“…Sonographic findings reported with this karyotype abnormality include ventriculomegaly, increased nuchal translucency or nuchal fold, renal abnormalities, digital abnormalities, craniofacial abnormalities, and cardiac abnormalities [Kaufmann et al, 1997; Wax et al, 2000; Pettenati et al, 2001; Zeng et al, 2003; Fernandez‐Novoa et al, 2004; Machlitt et al, 2005; Scheuerle et al, 2005; Karaoguz et al, 2006; Wax et al, 2008]. Of the 10 cases reported by prenatal diagnosis, 3 have been non‐mosaic, and 7 mosaic.…”

Partial trisomy of the long arm of chromosome 1: Prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature

“…This cerebral malformation, reported as a sonographic finding in 57% of cases of 1q trisomy after the 14th week, 20 seems to be the most significant echographic marker of this chromosomal imbalance, while malformations of the internal organs are not always present and the facial dysmorphisms typical of the syndrome may be not recognizable at early ultrasound examinations.…”

“…At present, over 20 prenatal cases have been reported. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] The fetal phenotype in the first or second trimester of pregnancy has still not been well defined from the data of echographic and post-mortem examinations. Although several authors have tried to establish genotype/phenotype correlations, at present a wide variability in the phenotype is reported, even in patients with similar 1q duplications, both in prenatal and postnatal cases.…”