Abstract
Prenatal genetic technologies are advancing screening, diagnostics and fetal therapies. Carrier screening now emphasizes health care equity in panel compositions. During pregnancy, noninvasive testing of cell free DNA in the maternal circulation has expanded from common aneuploidies to subchromosomal changes to monogenic conditions. Today, for diagnostic testing, the standard of care remains an invasive procedure either CVS or amniocentesis. Chromosome microarray has replaced karyotype and in the presence of anomalies, exome sequencing is an option. Lastly, to treat genetic conditions in utero, cell-based therapies are in clinical trials and advances in fetal gene editing are anticipated.
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