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Catalog
PPM - Preconception Genetic Consultation
Description and References
Description and References
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Pdf Summary
Preconception genetic consultation is an important aspect of genetic referral, as it addresses the risks associated with future pregnancies. This includes concerns related to maternal age, family history of inherited diseases, previous cases of congenital anomalies or genetic disorders in children, population screening for genetic disorders, teratogen exposure, infertility, and maternal diseases affecting pregnancy. Patients may seek information about diagnostic procedures, necessitating education and clarification. Genetic counseling plays a vital role in providing valuable information to patients in these situations.<br /><br />To ensure adequacy of counseling, patient autonomy, safety, and procedural risk management, it is crucial to obtain a thorough patient history during preconception genetic counseling. This allows healthcare providers to tailor the testing and guidance provided to each patient's specific needs. Patients should also be made aware of the available options for genetic screening and testing during preconception and pregnancy.<br /><br />The literature on this topic includes guidelines published by organizations such as the American Academy of Pediatrics and the American College of Obstetricians and Gynecologists. These guidelines provide recommendations and practices for perinatal care, prepregnancy counseling, and carrier screening for genetic conditions. Additionally, a practice resource from the American College of Medical Genetics and Genomics offers guidance on screening for autosomal recessive and X-linked conditions during pregnancy and preconception.<br /><br />Overall, preconception genetic consultation is an essential service that addresses the specific concerns and risks related to future pregnancies. A systematic approach, informed by guidelines and best practices, ensures that patients receive comprehensive and personalized counseling regarding their genetic health.
Keywords
preconception genetic consultation
genetic referral
risks associated with future pregnancies
maternal age
family history of inherited diseases
congenital anomalies
genetic disorders in children
genetic screening
genetic testing
personalized counseling
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