Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two cases

Prenatal Diagnosis of Double Trisomy 48,XXX,+18 in the First Trimester

“…The previously reported cases had nuchal translucency thicknesses of 5 and 4.5 mm at 12 weeks 5 days and 11 weeks 3 days, respectively. 6 In our case, the nuchal translucency thickness was only mildly increased to 3.2 mm, but there were other abnormal findings, namely subcutaneous edema, omphalocele, and a large atrioventricular septal defect. These sonographic findings were initially considered highly suggestive of trisomy 18; according to a large firsttrimester sonographic screening study involving 106 fetuses with trisomy 18, the most striking 718 Double Trisomy sonographic findings in this condition included nuchal translucency thickness above the 95th percentile in 79% of cases, omphalocele in 26% of cases, crown-rump length below the fifth percentile in 20% of cases, and fetal heart rate below the fifth percentile in 11% of cases.…”

“…Our case ended in an intrauterine death at about 14 weeks. In the cases reported previously, 6 1 woman opted for elective termination of pregnancy, and the other had an intrauterine death at 14 weeks. This suggests that the association of increased nuchal translucency with or without associated structural anomalies in the firsttrimester fetus with double trisomy 48,XXX,+18 carries a poor prognosis.…”

“…Indeed, a recent report described the prenatal diagnosis of this condition in 2 fetuses with increased nuchal translucency in the first trimester. 6 With the case we report here, we aim to contribute to the characterization of the sonographic and clinical features of this condition in early gestation.…”

First trimester detection of double aneuploidy involving autosomes and sex chromosomes using combined biochemical and ultrasound screening

“…included one case of double trisomy 48,XXY,+21 with an NT of 2.0 mm at a crown rump length of 52 mm – being unremarkable. In 2004, van Huizen et al . published two cases in which double trisomy 48,XXX,+18 was identified prenatally as a result of increased NT.…”

“…5 In 2002, Metzenbaur et al 6 included one case of double trisomy 48,XXY,+21 with an NT of 2.0 mm at a crown rump length of 52 mmbeing unremarkable. In 2004, van Huizen et al 7 published two cases in which double trisomy 48,XXX, +18 was identified prenatally as a result of increased NT. A case of double trisomy 48,XXX,+18 was also reported by Dezerega et al 8 in which the NT was 3.2 mm, which was above the 95th centile for gestational age.…”