Scientific Article 🇬🇧 Mentions KS

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

person Osman İnce et al., Clinical and Experimental Obstetrics & Gynecology

calendar_today Sep 17, 2026

In this retrospective cohort of 81 pregnancies with apparently isolated increased nuchal translucency (extra fluid at the fetal neck) or cystic hygroma, standard chromosome testing found abnormalities in 43%, most often trisomy 21. Among normal karyotypes, live birth was common. Exome sequencing in selected cases gave no confirmed explanation, so it cannot estimate overall diagnostic yield.