Identification of fetuses with hemoglobin Bart's disease using middle cerebral artery peak systolic velocity

• Main Authors: Srisupundit K., Piyamongkol W., Tongsong T.
• Format: Article
• Language: English
• Published: 2014
• Online Access: http://www.scopus.com/inward/record.url?eid=2-s2.0-66449093401&partnerID=40&md5=725f35d1a292c85bfb39606302bded5b; http://www.ncbi.nlm.nih.gov/pubmed/19350531; http://cmuir.cmu.ac.th/handle/6653943832/2853
• Institution: Chiang Mai University

Objectives: To determine the sensitivity and specificity of middle cerebral artery peak systolic velocity (MCA-PSV) in mid-pregnancy for the identification of homozygous α-thalassemia-1 (hemoglobin (Hb) Bart's disease) in fetuses at risk of the disease. Methods: A total of 88 pregnancies (91 fetuses) at risk of Hb Bart's disease and undergoing MCA-PSV measurement before cordocentesis at 18-22 weeks of gestation were recruited into the study. Definitive diagnosis was made using the gold standard technique of Hb typing by high-performance liquid chromatography. Results: The mean ± SD age of the 88 pregnant women recruited into the study was 28.3 ± 5.7 years, the gestational age was 18.8 ± 1.1 weeks and the incidence of Hb Bart's disease was 22% (20 fetuses). Using MCA-PSV above 1.5 multiples of the median as a cut-off point, the sensitivity of MCA-PSV for detecting affected fetuses was 85% (17/20 cases), with a specificity of 100%, and positive and negative predictive values of 100% and 95.9% respectively. Three of 20 fetuses with Hb Bart's disease had normal MCA-PSV. Conclusions: MCA-PSV assessment in mid-pregnancy is a useful method for identifying Hb Bart's disease with high sensitivity and specificity among fetuses at risk, and may allow avoidance of unnecessary cordocentesis in some cases. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.