Summary
Accurate mid-trimester prenatal diagnosis was achieved in a Japanese haemophilia BM family. At 21 weeks of gestation, liver blood from the male fetus at 50% risk was sampled using a needle guided by ultrasound. F.IX (F.IX:C and F.IX:Ag) and ox-brain PT in the fetal plasma were low and prolonged, but within the normal range of controls at mid-trimester. Pregnancy went to term and woman gave birth to an unaffected male. Haemophilia BM can be diagnosed in the mid-trimester of pregnancy by determination of F.IX:C, F.IX:Ag and ox-brain PT in pure fetal plasma.
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Yoshioka, A., Ohkubo, Y., Sakai, T. et al. Prenatal diagnosis of haemophilia BM. Jap J Human Genet 33, 395–400 (1988). https://doi.org/10.1007/BF01897779
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DOI: https://doi.org/10.1007/BF01897779