ISSN:
1435-232X
Keywords:
prenatal diagnosis
;
haemophilia BM
;
factor IX
;
ox-brain prothrombin time
;
fetal blood sampling
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01897779
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