title: What are the most common first-trimester ultrasound findings in cases of Turner syndrome?
abstract: OBJECTIVE
  To identify the most common first-trimester ultrasound findings in Turner syndrome (TS). To evaluate which first-trimester findings can be best used to predict the likelihood of TS.
  
  
  METHODS
  This was a prospective study, based on singleton pregnancies. The referrals included 6210 patients. Scan protocol covered a review of the early fetal anatomy and markers of aneuploidy.
  
  
  RESULTS
  Study population comprised 5644 pregnancies: 5613 with a normal karyotype and 31 cases of TS. Statistically significant differences (p < 0.05) were found between euploidy and TS groups in terms of nuchal translucency (NT; 1.7 mm versus 8.8 mm) and fetal heart rate (FHR; 160 versus 171 beats per minute). None of the TS cases demonstrated absent markers of aneuploidy as opposed to 5133 (91.4%) cases of euploidy. NT and abnormal DV flow (aDV or revDV) were the most common markers found in combination in TS cases (n = 17; 54.8%). 27 (0.5%) cases of euploidy and 17 (54.8%) cases of TS revealed congenital heart defects. Fetal hydrops was observed in 14 cases of TS (43.8%) and in 5 of euploidy (0.1%). In backward regression model, NT > 3.5 mm and right dominant heart (RDH) augmented the risk of TS risk by 991 and 314 times, respectively.
  
  
  CONCLUSIONS
  First-trimester sonography is a feasible method to identify the most characteristic features of TS fenotype. When the first-trimester pattern of TS is considered, a highly thickened NT, FHR above the 95th percentile, abnormal ductus venosus velocimetry, fetal hydrops, and RDH should be specifically searched for.
authors.affiliation: a Department of Gynecology and Obstetrics , Jagiellonian University , Krakow , Poland.|b Ultrasound Group Practice "Dobreusg" , Krakow , Poland , and.
authors.forename: Marcin
authors.initials: M
authors.lastname: Wiechec
authors.affiliation: a Department of Gynecology and Obstetrics , Jagiellonian University , Krakow , Poland.|b Ultrasound Group Practice "Dobreusg" , Krakow , Poland , and.
authors.forename: Anna
authors.initials: A
authors.lastname: Knafel
authors.affiliation: b Ultrasound Group Practice "Dobreusg" , Krakow , Poland , and.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Nocun
authors.affiliation: c Voivodeship Sanitary-Epidemiological Station , Krakow , Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Wiercinska
authors.affiliation: a Department of Gynecology and Obstetrics , Jagiellonian University , Krakow , Poland.
authors.forename: Artur
authors.initials: A
authors.lastname: Ludwin
authors.affiliation: a Department of Gynecology and Obstetrics , Jagiellonian University , Krakow , Poland.
authors.forename: Inga
authors.initials: I
authors.lastname: Ludwin
mesh_terms: D000328:Adult; D000782:Aneuploidy; D016022:Case-Control Studies; D005260:Female; D005318:Fetal Heart / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005819:Genetic Markers; D006340:Heart Rate, Fetal / Q000502:physiology*; D006801:Humans; D048208:Nuchal Translucency Measurement; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011446:Prospective Studies; D012307:Risk Factors; D014424:Turner Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics
chemical_list: D005819:Genetic Markers
keywords: First trimester; Turner syndrome; ductus venosus; monosomy X; nuchal translucency; right dominant heart