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July-September 2014 | Vol. 7 | Issue 3 | Page No 18-19
Non invasive prenatal testing for low risk women andmore...
Anju Shukla
Department of Medical Genetics, Kasturba Medical College, Manipal
Address for Correspondence Email: dranju2003@yahoo.co.in
Though non-invasive prenatal testing using massively parallel sequencing of cell free fetal DNA has been in use in clinical practice since 2011, most of the study cohort and the subsequent data relates to high risk pregnancies. The high accuracy of these techniques for aneuploidy detection has been already proved in these cases. A study by Bianchi et al in a large cohort of women with uncomplicated singleton pregnancies has finally proved this can be a useful technique in the general low risk obstetric population as well. The negative predictive value of this screening has been estimated to be nearly 100% with a tenfold higher positive predictive value for trisomy 21. This would bring down substantially the number of procedures due to false positive results. Hence, it is likely to become the test of choice for antenatal screening as soon as the cost of the next generation sequencing technique comes down.
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