Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing
Neonatal Medicine
Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing
Neonatal Medicine

Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing

Prenat Diagn. 2025 Jul 17. doi: 10.1002/pd.6849. Online ahead of print.

ABSTRACT

Perinatal genetics is a field that continues to experience rapid advances. Various genetic testing strategies are utilized in the prenatal and neonatal period with significant overlap between them. We summarize currently available diagnostic genetic testing options and review indications for genetic testing in the prenatal and neonatal period. With ongoing improvement in genome sequencing and variant interpretation, we anticipate that our understanding of this field of genetics will continue to expand.

PMID:40675929 | DOI:10.1002/pd.6849