Nuchal translucency as a potential marker of Emanuel syndrome: a case report

Aim: to study a clinical case of Emanuel Syndrome (ES) in a newborn child, which arose as a result of a balanced chromosomal translocation in the mother, for early detection of the syndrome. Clinical case. A 32-year-old woman with an uncomplicated family history presented with a fetus showing increased nuchal translucency (NT) of 3.2 mm at 12 weeks of gestation. The pregnant woman refused the proposed invasive testing. Second-trimester ultrasound identified placenta previa, moderate oligohydramnios, and a hyperechoic focus in the left ventricle, with no major structural anomalies. Biochemical markers in both trimesters were unremarkable. Postnatally, the infant displayed mild dysmorphic features, severe hypotonia, and profound developmental delay. Cytogenetic and Fluorescent In Situ Hybridization analyses confirmed Emanuel syndrome due to a supernumerary chromosome der(22)t(11;22) inherited from the maternal balanced translocation t(11;22). Conclusion. Increased NT may serve as a useful early marker for ES in prenatal screening, even in the absence of structural malformations or family history. Further research is warranted to validate NT's role in improving early detection of the syndrome. The research was carried out in accordance with the principles of the Declaration of Helsinki. The copyright agreement from the child's parents was obtained for the study. The authors declare no conflict of interest.