Sequencing of maternal plasma to detect fetal chromosomal aneuploidies is currently being offered by four US-based companies — Sequenom, Verinata Health, Ariosa Diagnostics, and Natera — and researchers now think that the technique can be expanded to detect sub-chromosomal deletions and duplications in the fetal genome as well.

Such aberrations are less frequent than fetal aneuploidy, but can cause conditions like DiGeorge syndrome, characterized by congenital heart defects, learning deficiencies, immune problems, abnormal facial features, and other problems.

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