Prenatal diagnosis of haemophilia A by chorionic villus sampling and cordocentesis: all India Institute of Medical Science experience

Abstract

Background and objective: We looked at the two most commonly used methods for prenatal diagnosis, cordocentesis and chorionic villus sampling for prenatal diagnosis of haemophilia A in an Indian setting.

Material and methods: The study sample included 16 families which reported to us for prenatal diagnosis of haemophilia A at All India Institute of Medical Science, New Delhi, India. Prenatal tests were done on chorionic villus samples or on cord blood (cordocentesis). Molecular work-up included the use of indirect mutation analysis in the form of linkage markers like CA-13, CA-22, Xba1 and Bcl1 as well as direct mutation analysis in the form of inversion 1 and 22 detection. Non-molecular work-up included primarily factor VIII assays.

Result: Chorionic villus sampling was performed in eight mothers. Of the other eight mothers, six underwent cord blood factor VIII assays because these had absence of family history and were negative for linkage and inversion 1 and 22. One patient had a female child and another had a fetus that showed congenital abnormalities.

Conclusion: We found that the choice of either technique, chorionic villus or cordocentesis, is not really an alternative, but rather dependent on the gestational age of presentation.