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This review summarizes genetic testing strategies in prenatal and neonatal periods, highlighting their overlap and implications for perinatal genetics.
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.
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Harris et al. (2025) studied this question.
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