PPM - Preconception Genetic Consultation-Description and References

Description and References

Pdf Summary

This module, updated as of December 2025, is designed for physicians providing preconception genetic counseling to patients considering future pregnancy. Its objective is to equip healthcare providers with the skills to obtain a thorough patient history, deliver appropriate genetic testing and guidance based on referral reasons, and inform patients about available genetic screening and testing options before and during pregnancy.<br /><br />Preconception genetic counseling has become increasingly important due to various factors that may affect pregnancy risk—such as advanced maternal age, family history of inherited disorders, previously affected children, population-based genetic screening, consanguinity, exposure to teratogens, infertility, or maternal health conditions. Counseling aims to offer patients clear information, support their decision-making autonomy, ensure safety, and manage procedural risks effectively. Specifically, offering carrier screening prior to conception helps identify couples at increased risk of passing on genetic conditions.<br /><br />The module emphasizes a systematic, patient-centered approach to counseling, highlighting the importance of education around diagnostic procedures and clarifying options available. It references key literature, including guidelines by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG), which outline best practices for screening autosomal recessive and X-linked conditions and carrier screening protocols. Additionally, it cites research on counseling couples with consanguinity, addressing their expectations and experiences.<br /><br />Ultimately, this module aims to enhance physician competence in preconception genetic consultation, enabling informed discussions that optimize pregnancy outcomes and empower patients through informed genetic decision-making.

Keywords

preconception genetic counseling

genetic testing

carrier screening

pregnancy risk factors

patient history

autosomal recessive conditions

X-linked conditions

consanguinity counseling

ACOG guidelines

ACMG guidelines