This strategy is recommended if there are time constraints for decisions about prenatal diagnostic evaluation. Overview of different carrier screening strategiesĪlternatively, both partners' samples can be collected and tested simultaneously with “tandem screening” (Figure 1). Lack of male partner follow‐up diminishes the ability of ECS to provide clinically actionable results, underscoring the need for mechanisms to efficiently gather the male partner's sample and decrease provider workload. In one study, only 38% of male partners followed‐up with screening. The need for a secondary sample submission has been found to significantly reduce subsequent partner screening, and ultimately ARC detection, primarily due to workflow challenges and lack of follow‐up of male partners. In current practice, this commonly necessitates a subsequent visit to a provider for collection of the partner's sample, such that the time to receive a combined couple report is often more than double the time it takes to receive an individual report. The partner is screened for the condition(s) for which the female was found to be a carrier (Figure 1). The most common way to identify ARCs is via “sequential screening,” in which the female partner is screened first and, if found to be a carrier, Results enable couples to make reproductive decisions based on their personal values and preferences.ĪRCs can pursue options, such as in‐vitro fertilization with preimplantation genetic testing, use of an egg or sperm donor, prenatal diagnostic testing, adoption, and/or pregnancy termination.Īdvanced knowledge can also help individuals and providers develop a pregnancy management plan, decrease time to diagnose an affected child, improve perinatal outcomes, and facilitate education about special care needs after birth. To provide comprehensive risk information to patients pursuing ECS and identify at‐risk couples (ARCs), it is critical to obtain results from both partners. Over the last decade, more than a million individuals have undergone pan‐ethnic expanded carrier screening (ECS), that is, screening for a large number of conditions regardless of one's ethnic background or family history.ĮCS is one of the carrier screening strategies supported by the American College of Obstetricians and Gynecologists (ACOG),Īnd has been shown to more effectively identify carriers and affected pregnancies across all ethnicities than currently recommended ethnicity‐based screening.Īpproximately 1 in 300 pregnancies in the United States is expected to be affected with a serious genetic condition and 1 in 22 couples is at risk of having an affected child. Carrier screening is offered to individuals and couples to identify those at risk of having children with certain recessive and X‐linked genetic conditions.
0 kommentar(er)
