Non‐invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophilia

• Published in: BJOG : an international journal of obstetrics and gynaecology Vol. 113; no. 2; pp. 239 - 242
• Main Authors: Chi, C, Hyett, JA, Finning, KM, Lee, CA, Kadir, RA
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01-02-2006; Blackwell
• Subjects: Biological and medical sciences; DNA - analysis; Female; Gynecology. Andrology. Obstetrics; Hematologic and hematopoietic diseases; Hemophilia A - diagnosis; Heterozygote; Humans; Male; Medical sciences; Platelet diseases and coagulopathies; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis - methods; Sex Determination Analysis - methods; Pregnancy; Prenatal Diagnosis; Gynecology; Hemophilia; Sex; Fetus; First trimester; Hemopathy; Obstetrics; Coagulopathy; Genetic disease
• ISSN: 1470-0328; 1471-0528
• DOI: 10.1111/j.1471-0528.2006.00813.x

Ten carriers of haemophilia referred for prenatal diagnosis were offered first trimester non‐invasive fetal gender determination by ultrasound and analysis of free fetal DNA (ffDNA) in maternal plasma in an attempt to reduce the need for an invasive diagnostic procedure in female pregnancies. Although repeat testing was required in three cases, fetal gender was determined correctly in all cases (four females, six males) at a median gestation of 12+3 (11+2 to 14+1) using both methods. In all cases of a female fetus, the mothers opted not to have invasive testing. Both methods provide a reliable option of avoiding invasive testing in female pregnancies.