title: Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers.
abstract: The existence of foetal DNA in maternal blood, discovered in 1997, opened new possibilities for noninvasive prenatal diagnosis. This includes foetal sex assessment by the detection of specific Y chromosome sequences in maternal blood, particularly important when a foetus may be affected by an X-linked disorder such as haemophilia. This study aims to validate this sex assessment method and to test its clinical utility in the diagnosis of 15 potentially affected pregnancies in female carriers of haemophilia. In the validation study, 316 maternal blood samples from 196 pregnant women at gestations ranging from 5 weeks to 12 weeks were analysed. In the clinical study, 15 pregnancies at risk of having a haemophilic foetus were tested. All pregnancies in the validation study were correctly diagnosed. The accuracy and specificity of the methodology from the seventh week of gestation was 100%. The sex of all 15 pregnancies identified as being at risk of bearing a haemophilic foetus was correctly diagnosed. Foetal sex assessment by detecting specific Y chromosome sequences in maternal blood is now routinely used in our hospital because of its high accuracy from the seventh week of gestation. Reliable foetal gender determination from maternal blood of pregnant women carriers of haemophilia in the first trimester of gestation can avoid more conventional, invasive methods of prenatal diagnosis.
authors.affiliation: Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain. abustamante@fjd.es
authors.forename: A
authors.initials: A
authors.lastname: Bustamante-Aragones
authors.forename: M
authors.initials: M
authors.lastname: Rodriguez de Alba
authors.forename: C
authors.initials: C
authors.lastname: Gonzalez-Gonzalez
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.forename: D
authors.initials: D
authors.lastname: Diego-Alvarez
authors.forename: E
authors.initials: E
authors.lastname: Vallespin
authors.forename: J
authors.initials: J
authors.lastname: Plaza
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: C
authors.initials: C
authors.lastname: Ramos
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics; D004247:DNA / Q000097:blood; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005865:Gestational Age; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis*; D006579:Heterozygote; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity; D012732:Sex Determination Analysis / Q000379:methods*
chemical_list: D004247:DNA