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Maternal serum hCG, PAPP-A and AFP as predictors of hemoglobin Bart disease at mid-pregnancy
Fuanglada Tongprasert1, Chanane Wanapirak, Theera Tongsong
1Maternal Fetal Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Insights
Maternal serum alpha-fetoprotein (MSAFP) shows promise for screening high-risk pregnancies for fetal hemoglobin (Hb) Bart
Area of Science:
- Prenatal Diagnostics
- Maternal Serum Screening
- Hemoglobinopathies
Background:
- Hemoglobin Bart's disease is a severe form of alpha-thalassemia.
- Screening pregnancies at risk is crucial for early detection and management.
- Current screening methods may require further optimization for accuracy.
Purpose of the Study:
- To assess the efficacy of maternal serum markers in screening for fetal Hb Bart's disease.
- To evaluate free beta-human chorionic gonadotrophin (β-hCG), pregnancy-associated plasma protein-A (PAPP-A), and alpha fetoprotein (AFP) as screening tools.
Main Methods:
- Prospective study of pregnancies at risk for Hb Bart's disease.
- Maternal serum levels of free β-hCG, PAPP-A, and AFP measured at 18-22 weeks gestation.
- Fetal diagnosis confirmed by cordocentesis and high-performance liquid chromatography (HPLC) for Hb typing.
Main Results:
- Maternal serum alpha-fetoprotein (MSAFP) levels were significantly higher in pregnancies with fetal Hb Bart's disease.
- No significant difference in free β-hCG or PAPP-A levels between affected and unaffected pregnancies.
- MSAFP showed a statistically significant difference (P < 0.001).
Conclusions:
- Second-trimester MSAFP is a potentially useful screening test for fetal Hb Bart's disease.
- MSAFP may aid in identifying pregnancies requiring further diagnostic testing.
- Free β-hCG and PAPP-A are not effective screening markers for this condition.
Objective:
To evaluate the ability of maternal serum-free β-human chorionic gonadotrophin (β-hCG), pregnancy-associated plasma protein-A (PAPP-A), and alpha fetoprotein (AFP) levels in the screening of fetuses with hemoglobin (Hb) Bart's disease among pregnancies at risk.
Materials And Methods:
Pregnancies at risk for fetal Hb Bart's disease scheduled for cordocentesis at 18 to 22 weeks were recruited into the study. Maternal serum-free β-hCG, PAPP-A, and AFP concentrations were measured before cordocentesis, and the final fetal diagnosis of Hb Bart disease was based on fetal Hb typing using high-performance liquid chromatography.
Results:
Of 57 recruited pregnancies, 11 had fetal Hb Bart's disease and 46 were unaffected. Maternal serum alpha-fetoprotein (MSAFP) concentrations were significantly higher in women with fetal Hb Bart's disease than those with unaffected fetuses (median 99.53 vs 50.83, P < 0.001), whereas the concentrations of free β-hCG and PAPP-A were not significantly different between the two groups (P = 0.543 and 0.777, respectively).
Conclusion:
Second-trimester MSAFP may be clinically a useful screening test for fetal Hb Bart's disease among pregnancies at risk.