Second trimester maternal serum alpha-fetoprotein (MSAFP) as predictor of fetal hemoglobin Bart's disease

• Main Authors: Tongprasert,F., Srisupundit,K., Luewan,S., Tongsong,T.
• Format: Article
• Published: John Wiley and Sons Ltd 2015
• Subjects: Obstetrics and Gynecology; Genetics (clinical)
• Online Access: http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84918560813&origin=inward; http://cmuir.cmu.ac.th/handle/6653943832/38352
• Institution: Chiang Mai University

© 2014 John Wiley & Sons, Ltd. What's already known about this topic?Maternal serum alpha-fetoprotein is produced from the fetal hematopoietic organs, including the yolk sac and fetal liver, and enters maternal circulation by placental transfer. Maternal serum alpha-fetoprotein is elevated in pregnancies with fetal anemia from different causes. What does this study add?Maternal serum alpha-fetoprotein is relatively effective in the prediction of fetal Hb Bart's disease, with a level >1.50 MoM having a detection rate of 87%.A higher detection rate can be achieved when maternal serum alpha-fetoprotein is used in combination with sonographic markers. Objective: The objective of this study is to evaluate the efficacy of maternal serum alpha-fetoprotein (MSAFP) levels in predicting hemoglobin (Hb) Bart's fetus. Materials and methods: A total of 199 pregnancies at risk of fetal Hb Bart's disease at 18 to 22weeks were enrolled. Before performing cordocentesis for the Hb typing analysis, the MSAFP levels were analyzed, and sonographic markers (middle cerebral artery peak systolic velocity, cardiothoracic ratio and placental thickness) were measured. The detection rates of MSAFP and the sonographic markers in predicting fetuses affected by Hb Bart's disease were evaluated. Results: The MSAFP levels were significantly higher in pregnant women carrying affected fetuses (47 cases) than in those with unaffected fetuses (2.09 MoM vs 1.18 MoM, P<0.001). MSAFP as a single marker effectively predicted fetal Hb Bart's disease (area under curve receiver operating characteristic 0.832, 95% CI 0.752-0.911), with 87.2% sensitivity and 74.5% specificity using a cutoff value greater than 1.50 MoM. A combination of MSAFP with sonographic markers gave detection rates in the range of 91.5% to 100%. Conclusion: Second trimester MSAFP levels are significantly higher in pregnancies with Hb Bart's fetus. MSAFP as a single marker is relatively effective in Hb Bart's prenatal screening. A high detection rate is achieved when MSAFP is used in combination with sonographic markers.