Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

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‐link...

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Bibliographic Details
Published in:Haemophilia : the official journal of the World Federation of Hemophilia 2008-05, Vol.14 (3), p.593-598
Main Authors: BUSTAMANTE-ARAGONES, A., RODRIGUEZ DE ALBA, M., GONZALEZ-GONZALEZ, C., TRUJILLO-TIEBAS, M. J., DIEGO-ALVAREZ, D., VALLESPIN, E., PLAZA, J., AYUSO, C., RAMOS, C.
Format: Article
Language:English
Subjects:
Chromosomes, Human, Y - genetics
clinical routine
DNA - blood
Female
Fetal Diseases - diagnosis
foetal DNA
Gestational Age
haemophilia
Hemophilia A - blood
Hemophilia A - diagnosis
Heterozygote
Humans
Male
maternal blood
noninvasive prenatal diagnosis
Polymerase Chain Reaction
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis - methods
Sensitivity and Specificity
Sex Determination Analysis - methods
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Summary: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.
ISSN:1351-8216
1365-2516
DOI:10.1111/j.1365-2516.2008.01670.x