First trimester prenatal diagnosis of haemophilia A using factor VIII gene probe.
Accurate first-trimester prenatal diagnosis was achieved in a Japanese haemophilia A family by the use of a restriction fragment length polymorphism (RFLP) located within the F.VIII gene. Since the pregnant woman's heterozygosity for BclI polymorphism in F.VIII/intron 18 (F8A) probe was informative, chorionic villus sampling (CVS) was performed at 9 weeks of gestation. Restriction analysis showed that the fetus was heterozygous for the BclI site and had received a normal paternal X chromosome (0.9 kb) and a normal maternal X (1.2 kb). Therefore, we concluded that the fetus was a non-carrier female. Pregnancy went to term and woman gave birth to an apparently healthy female. At one week after birth a coagulation study confirmed that the newborn infant is not a carrier. The first-trimester prenatal diagnosis of haemophilia A is possible by CVS due to a RFLP in the F.VIII gene.
Yoshioka
A
A
Naka
H
H
Nishimura
T
T
Kuze
K
K
Tanaka
I
I
Mikami
S
S
Matsumoto
M
M
Yoshioka
K
K
Fukui
H
H
D015139:Blotting, Southern; D005167:Factor VII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis*; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
D005167:Factor VII