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Reproductive Health research from past decades has led us to a better understanding of genetic risk factors, as an essential part of determining reproductive options for planning or growing a family. In the reproductive journey, expanded carrier screening (ECS) adapts to our multiethnic society, where genetic disorders previously confined to specific ethnic groups now occur at increasing frequency in broader populations. Carrier status information obtained during the preconception stage has proven helpful in assessing appropriate reproductive options.
Further in the journey, Preimplantation genetic testing (PGT) provides testing labs with genetic information for embryo prioritization. Today, testing for aneuploidy (PGT-A) and genetic variants (PGT-M) can be done simultaneously, increasing probability for successful pregnancies and healthier future generations.
Furthermore, for ongoing gestation, prenatal genetic testing continues to play a vital role in providing information about the health of the fetus. Recent research reported by Dr. Brynn Levy at 2019 ACMG further established the importance of single exon deletion and duplication in identifying genetic mutations in unresolved postnatal testing cases (view video presentation).
We view this as the reproductive lifecycle because information gained from any part of the reproductive journey can be used to enable informing the reproductive options of the future generations.
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Detection of sequence and structural variation for preconception or expanded carrier screening across a wide range of ethnicities.
Microarrays are an ideal platform for copy number variation (CNV) analysis and molecular cytogenetic research.