Scientific Article 🇬🇧 Mentions KS

Cytogenetic Findings and Pregnancy Outcomes in Fetuses With Apparently Isolated Increased Nuchal Translucency or Cystic Hygroma

person İnce O.; DİNÇ C.; İnce E.; ÖZ Ö. F.; DAĞDELEN C.; MANGUOĞLU A. E.; MENDİLCİOĞLU İ. İ.; Clinical and Experimental Obstetrics and Gynecology

calendar_today Oct 8, 2026

Retrospective cohort of 81 fetuses with increased nuchal translucency (fluid at the back of the neck) or cystic hygroma found chromosomal abnormalities in 43.2%, most often trisomy 21. Among normal-karyotype fetuses, live birth was common. Exome sequencing in selected cases gave mixed, unconfirmed findings and should not be read as a cohort diagnostic yield. One of the cases has Kleefstra Syndrome.