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J Matern Fetal Neonatal Med. 2014 Feb;27(3):257-60. doi: 10.3109/14767058.2013.809416. Epub 2013 Jun 27.

Distended jugular lymphatic sacs in fetuses with increased nuchal translucency: correlation with first-trimester findings in aberrant karyotypes.

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Department of Gynecology & Obstetrics, Christian-Albrechts-University Kiel & University, Hospital Schleswig-Holstein , Campus Kiel, Kiel , Germany.



We investigated the prognostic relevance of ultrasound visibility of distendend jugular lymphatic sacs (JLS) in fetuses with aberrant karyotypes in First-trimester-screening. Furthermore we tried to differentiate between increased nuchal translucency (NT) and cystic hygroma colli.


We performed a retrospective single center study in 1874 patients presenting for First-trimester-screening between 2009 and 2013. All fetuses with an abnormal risk calculation and NT > 2.5 mm (95th percentile) were reviewed for ultrasound visibility of JLS. A group of 30 fetuses with normal risk calculation served as control. Karyotyping was performed by chorionic-villi-sampling or amniocentesis, respectively.


In a total of 2030 fetuses 70 (3.44%) with pathologic first-trimester-screening results showed either aberrant karyotypes or severe ultrasound pathologies. Main aberrant karyotypes were trisomy 21 (25), trisomy 18 (16), trisomy 13(six), Monosomy X (four), 47, XYY or 47, XXX (three) and Noonan' syndrome (two). Distended JLS were visible in 47% of all cases. Statistical anaylsis found a significant correlation between NT and JLS size for the fetuses with trisomies 21, 18 and 13 (r = 0.53, p < 0.002). Cystic hygroma colli was present in all Turner and Noonan syndromes.


Distended JLS have a strong correlation with abnormal karyotypes and increased nuchal translucency. Karyotyping should be offered in these cases.

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