title: Prenatal ultrasound evaluation of fetal Hb Bart's disease among pregnancies at risk at 11 to 14 weeks of gestation.
abstract: OBJECTIVE
  The objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk
  
  
  METHODS
  Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestation. Sonographic markers including cardiothoracic (CT) ratio, peak systolic velocity of the middle cerebral artery (MCA-PSV), placental thickness, and nuchal translucency were prospectively assessed and recorded. The definite diagnosis of fetal Hb Bart's disease was based on DNA analysis (chorionic villus sampling) or subsequent fetal Hb typing (high-performance liquid chromatography; cordocentesis).
  
  
  RESULTS
  Among 104 pregnancies at risk with complete sonographic assessment at 11 to 14 weeks of gestation, 30 fetuses were finally proven to be affected. The CT ratio gave the highest sensitivity, 93.3%, with specificity of 93.2%, followed by placental thickness and MCA-PSV, respectively. Nuchal translucency had a very low sensitivity of 16.7%. The combination of CT ratio and MCA-PSV increased the sensitivity to 96.7% but somewhat compromise specificity.
  
  
  CONCLUSIONS
  At 11 to 14 weeks of gestation, sonographic markers can effectively differentiate affected from unaffected pregnancies. The most sensitive marker was CT ratio plus MCA-PSV. Of couples at risk with no any sonographic markers, the risk of having an affected fetus is nearly eliminated.
authors: Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand.
authors: Supatra
authors: S
authors: Sirichotiyakul
authors: Suchaya
authors: S
authors: Luewan
authors: Kasemsri
authors: K
authors: Srisupundit
authors: Fuanglada
authors: F
authors: Tongprasert
authors: Theera
authors: T
authors: Tongsong
mesh_terms: D000328:Adult; D005260:Female; D006453:Hemoglobinopathies / Q000000981:diagnostic imaging*; D006455:Hemoglobins, Abnormal; D006801:Humans; D020768:Middle Cerebral Artery / Q000000981:diagnostic imaging; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011446:Prospective Studies; D055815:Young Adult
chemical_list: D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's