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Among both prospective parents and providers of medical care, genetic and social concerns peak during the perinatal period. Advances in genomics and assisted reproductive technology have created new opportunities to detect genetic disorders and susceptibilities at multiple times during perinatal care and thus are relevant to these concerns. Emerging therapies for single-gene disorders may reshape these discussions.
Practitioners working with persons wishing to be parents are encouraged to inquire about their genetic backgrounds and family histories, to counsel them about tests for disease-carrier status that are based on known population-specific risks,1 and to refer them, when appropriate, to specialists in high-risk pregnancy and genetics. Nonetheless, there are major differences across the world in the adoption and implementation of genetic education and screening practices by providers, women and their partners, and health payment systems.2,3 Such differences are to be expected because access to health care, along with the availability of genetic counseling and testing, varies.
Even in the best-case scenario, patients, practitioners, and policymakers face complicated choices when selecting which genomic techniques to use broadly or individually in assessing risk and in determining how laboratory findings should inform decision making as the options for genetic testing expand.4 For example, it is not always possible to predict a priori the severity of a clinical condition on the basis of a genotype. A laboratory result may be flawless, but the identified genetic variation may not be known to cause a disease (i.e., it is a variant of uncertain significance). Or the discovered mutation or variant in a known disease gene may not reliably correlate with phenotype because of the influence of modifiers, which can be genetic, epigenetic, or environmental.
Preconception Genetic Screening and Testing
Genetic risk, especially of known genetic conditions in the family or a previous pregnancy, should ideally be assessed before conception or the establishment of a pregnancy in the context of assisted reproductive technology. Genetic screening is offered for a particular condition (or group of conditions) in individuals, groups, or populations. A family history of the condition is not required for genetic screening. Genetic testing is generally carried out when there is suspicion that an individual is at increased risk because of family history or because of a positive result...