Читать книгу Protocols for High-Risk Pregnancies - Группа авторов - Страница 120

Carrier screening is optional. It is critical that patient counseling be performed and consent be obtained prior to screening. In the context of expanded panels, for which all conditions cannot be specifically addressed, this education should include a description of the general types of conditions being screened and their common clinical features. Patients should be informed of the potential benefits of acquiring information and the availability of preimplantation genetic diagnosis, donor gametes, prenatal diagnosis and management, coordination of postnatal care, pregnancy termination, and adoption services. There should be a clear process for post‐test counseling and offering of screening to the patient’s reproductive partner or diagnostic testing of the pregnancy in the setting of a positive result. The limitations of carrier screening, including the concept of residual risk and the evolving landscape of expanded panels, should be explained in advance of screening. Efforts should be made to ensure confidentiality of genetic screening results. It is important to note that carrier screening can complement, but does not replace, state‐mandated newborn screening.