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Title: Non-invasive prenatal testing of haemoglobin Bart's Using Fetal DNA from the maternal plasma
Keywords: amniocentesis, DNA analysis, prenatal diagnosis, thalassaemia, STR, haemoglobinopathies
Issue Date: 15-Sep-2008
Citation: SHERRY HO SZE YEE (2008-09-15). Non-invasive prenatal testing of haemoglobin Bart's Using Fetal DNA from the maternal plasma. ScholarBank@NUS Repository.
Abstract: Alpha thalassaemia is the commonest inherited monogenic disorder amongst haemoglobinopathies in Southeast Asia. Prenatal diagnosis is offered to couples carrying alpha-thalassaemia double-gene deletions as they are at risk of having a fetus with the fatal haemoglobin(Hb)Barts. The 1-4% risk of procedural-related miscarriage is however, unacceptable to some couples. Fetal DNA in the maternal plasma is an alternative source of fetal genetic material for non-invasive prenatal testing. This thesis explored the use of microsatellite markers within these deletions to identify paternally-inherited fetal alleles in maternal plasma. The detection of these paternally-inherited microsatellite markers in the maternal plasma would indicate the inheritance of the unaffected paternal allele and exclude HbBarts. Using quantitative fluorescence-PCR, HbBarts was excluded non-invasively with the detection of fetal paternally-inherited microsatellite markers in 10 out of 30 maternal plasma samples. This non-invasive prenatal screening method would allow at-risk mothers carrying unaffected fetuses to avoid unnecessary invasive procedures.
Appears in Collections:Ph.D Theses (Open)

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