The research and clinical use of genome‐wide sequencing for prenatal diagnosis of fetuses
at risk for genetic disorders have rapidly increased in recent years. Current data indicate that …

Objective To determine the incremental yield of antenatal exome sequencing (ES) over
chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally …

Pregnancy loss and perinatal death are devastating events for families. We assessed
'genomic autopsy'as an adjunct to standard autopsy for 200 families who had experienced …

Background Exome sequencing is now being incorporated into clinical care for pediatric and
adult populations, but its integration into prenatal diagnosis has been more limited. One …

Background Fetal akinesia (FA) results in variable clinical presentations and has been
associated with more than 166 different disease loci. However, the underlying molecular …

Objective To determine the incremental yield of exome sequencing (ES) over chromosomal
microarray analysis (CMA) or karyotyping in prenatally diagnosed non‐immune hydrops …

Funding sources: None Conflicts of interest: The authors of the position statement writing
group are listed in the acknowledgements, where details of their conflicts of interest can be …

Purpose To determine the diagnostic yield of combined exome sequencing (ES) and
autopsy in fetuses/neonates with prenatally identified structural anomalies resulting in …

Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM: 600286) is a lipid kinase
generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical …

Emerging genomic technologies, largely based around next generation sequencing (NGS),
are offering new promise for safer prenatal genetic diagnosis. These innovative approaches …