Nuchal translucency in fetuses affected by homozygous α‐thalassemia‐1 at 12–13 weeks of gestation

Abstract

Objective Fetuses affected by homozygous α-thalassemia-1 are anemic in the first trimester. We studied their nuchal translucency (NT) measurements at 12-13 weeks of gestation. Methods

Placental volume measured by three‐dimensional ultrasound in the prediction of fetal α0‐thalassemia: a preliminary report

“…The sonographic manifestation of fetuses with α 0 ‐thalassemia at 12–14 weeks of gestation includes hydropic changes, increased nuchal translucency thickness, echogenic bowel, limb reduction, placental enlargement, cardiac enlargement and increased blood flow velocities in the cardiac outflow tracts and ductus venosus3, 11–15. The CTR is the best sonographic marker, though the earliest gestational age reported for reliable sonographic prediction is 12 weeks3, 16.…”

Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma

“…However, there is no evidence of increased nuchal translucency in relation to anemia at 12 to 13 weeks (Lam 1999a). Furthermore, anemic fetuses have significant increase of cardiac output and possible heart failure, but Doppler studies fail to correlate values of cardiac output, fetal hemoglobin and nuchal translucency measurement (Lam 1999b). Echocardiography in our first fetus showed thickened ventricular walls but Doppler velocities were normal.…”

De novo 16p13.11 microdeletion identified by high‐resolution array CGH in a fetus with increased nuchal translucency

“…For the 16p13.11 deletion, we further searched the DECIPHER database, and it revealed another two cases: DECIPHER 15 patient number 00000605 and 00001497; both had del(16)(p12.3;p13.11) spanning a 2.6-Mb deletion containing the 16p13.11 region identified in our case. 11 Although there was no consistent morphological abnormality noted in these two cases, or any information regarding the antenatal NT, both have mental and cognitive function abnormalities such as mental retardation/developmental delay. Additional literature search from PubMed show that 16p13.1 deletion predisposes to autism and/or mental retardation.…”