A NIH (National Institute of Health) review article reads that sequencing of foetal DNA in expectant mother’s blood may hold promises for modern genomic medicine. The senior researchers’ at the NIH say, fetal DNA sequencing can improve the accuracy of prenatal screening for genetic conditions. The foetal DNA enters the pregnant mother’s blood through the placenta. Mostly all common chromosomal conditions such as Trisomy 21,18 & 13 can be screened by this technique. Sex chromosome linked conditions, single gene mutation and missing chromosomal conditions can also be detected by this test.
In patients who have received negative results, cell free DNA sequencing can reduce the need for any additional invasive prenatal testing that may cause the risk of miscarriage.The American college of Medical genetics & American college of Obstetrics & Gynaecologists also suggest that fetal DNA screening is an efficient screening but not a confirmatory test. So, if a patient gets a positive result in this test there is a strong recommendation for further diagnostic confirmatory test. They also insist FDA to validate such a screening in labs and authenticate its clinical accuracy.
Since maternal blood sample contains the fetal DNA the extraction of this sample is easy. But, fetal DNA sequencing might face maternal cell contamination (i.e) it may detect conditions which are present in the pregnant women as well. The mother may manifest conditions such as blood related abnormalities and sex chromosomal abnormalities. So, senior members of the research insist that rapid incorporation of these tests into medical diagnostics with enough genetic education can be of great use to expectant mothers.
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