Should the reproductive risk of a couple aiming to conceive be tested in the contemporary clinical context?
In developed countries, single-gene diseases collectively account for 20% of infant mortality and approximately 10% of pediatric hospitalizations (34, 35). The ultimate aim of preconception carrier screening (PCS) panels is to increase the reproductive autonomy of individuals and couples by providing preconception knowledge that could inform them of the available treatment options. The options after PCS in general, and expanded PCS in particular, include preimplantation genetic testing for monogenetic disease (PGT-M), the use of gamete donors, conceiving without further testing after thorough genetic counseling, adoption, and refraining from having children (5).
Source: fertstert.org
Should the reproductive risk of a couple aiming to conceive be tested in the contemporary clinical context?
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