[Not Available].

Polygenic risk scores (PRS) identify at-risk individuals for many common diseases. A discussion of strengths and limitations is carried out in this review. PRS complement traditional genetic testing and have shown utility in establishing a proper diagnosis and guiding primary and secondary prevention.

A novel nonsense variant in associated with malformations in a female fetus.

Pathogenic variants in the  gene located on the X-chromosome have primarily been reported in males with Lujan-Fryns syndrome, Ohdo syndrome and the Opits-Kaveggia syndrome. However, earlier reports of female patients and female mice suggest that deficiency causes severe malformations. We report a novel example of a nonsense variant in a female fetus with severe malformations identified by trio-exome sequencing.