The goals of the study were to develop a noninvasive pre- natal test for autosomal recessive monogenic conditions and to prove its overall feasibility and potential for clinical integration.
The accuracy levels of paternal and maternal haplotypes obtained by grandparent-assisted haplotype phasing were 99.01 and 97.36%, respectively, and the proband-assisted haplotype phasing process yielded slightly lower accuracies of 98.73 and 96.79%, respec- tively. Fetal inheritance of the pathogenic gene was deduced correctly in both processes.
Conclusion: The study indicates that the strategy of haplotype- based noninvasive prenatal testing for monogenic conditions has potential applications in clinical practice.
View the study in the NIFTY here:
http://www.niftytest.com/wp-content/uploads/2014/09/gim201451a.pdf
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