title: Distended jugular lymphatic sacs in fetuses with increased nuchal translucency: correlation with first-trimester findings in aberrant karyotypes.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Distended JLS have a strong correlation with abnormal karyotypes and increased nuchal translucency. Karyotyping should be offered in these cases.
authors.affiliation: Department of Gynecology & Obstetrics, Christian-Albrechts-University Kiel & University, Hospital Schleswig-Holstein , Campus Kiel, Kiel , Germany.
authors.forename: Christel
authors.initials: C
authors.lastname: Eckmann-Scholz
authors.forename: Ali
authors.initials: A
authors.lastname: Salmassi
authors.forename: Walter
authors.initials: W
authors.lastname: Jonat
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Alkatout
mesh_terms: D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging; D008221:Lymphoid Tissue / Q000000981:diagnostic imaging* / Q000473:pathology; D009634:Noonan Syndrome / Q000175:diagnosis*; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012189:Retrospective Studies; D025064:Sex Chromosome Disorders / Q000175:diagnosis*; D014314:Trisomy / Q000175:diagnosis*; D014424:Turner Syndrome / Q000175:diagnosis; D018615:Ultrasonography, Doppler, Color; D016216:Ultrasonography, Prenatal; D014997:XYY Karyotype / Q000175:diagnosis