Maternal serum alpha-fetoprotein levels are normal in Fanconi anemia: Can it be a lack of postnatal inhibition of AFP gene resulting in the elevation?
We investigated the feasibility of using serum alpha-fetoprotein (AFP) levels as a screening test for prenatal diagnosis of Fanconi anemia (FA). Serial measurements in maternal serum were recorded. Parents, both heterozygous for FA, had declined prenatal molecular testing. The infant was born with no somatic abnormalities, and FA was confirmed by postnatal molecular analysis. Maternal serum AFP levels during each trimester of pregnancy were normal indicating that these levels cannot be used as a screening test in prenatal diagnosis. Three-year follow-up after birth showed constantly elevated serum levels in the patient from the start, suggesting a lack of postnatal inhibition on AFP gene.
Faculty of Medicine, Section of Hematology, Department of Pediatrics, Gazi University, Ankara, Turkey.
Deniz
D
Aslan
Faculty of Medicine, Department of Obstetrics and Gynecology, Gazi University, Ankara, Turkey.
Recep Onur
RO
Karabacak
Faculty of Medicine, Department of Pediatrics, Başkent University, Ankara, Turkey.
Oner Deniz
OD
Aslan
D005199:Fanconi Anemia / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000097:blood*; D011262:Pregnancy Trimester, Second / Q000097:blood*; D011263:Pregnancy Trimester, Third / Q000097:blood*; D011379:Prognosis; D018570:Risk Assessment; D000509:alpha-Fetoproteins / Q000235:genetics / Q000378:metabolism*
D000509:alpha-Fetoproteins
AFP gene; Fanconi anemia; lack of postnatal inhibition; maternal serum alpha-fetoprotein level; prenatal diagnosis; screening test