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Genetic disorders in maternal medicine.

Maggie O'Brien1, Sinead Whyte2, Sam Doyle3

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Genetic testing in maternal medicine is crucial for managing rare diseases during pregnancy. This guide offers a framework for pre-conceptual and pregnancy care for patients with genetic conditions, ensuring safe outcomes for mother and baby.

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Area of Science:

  • Maternal Medicine
  • Medical Genetics
  • Reproductive Health

Background:

  • Genetic testing is expanding in maternal medicine due to technological advancements.
  • Increased understanding of rare genetic diseases allows more patients to reach reproductive age.
  • Management guidelines for rare genetic diseases in pregnancy are often lacking.

Purpose of the Study:

  • To provide a framework for pre-conceptual and pregnancy management of genetic diseases.
  • To address the unique needs and risk profiles of pregnant patients with genetic conditions.
  • To inform clinicians on planning for safe maternal and infant care.

Main Methods:

  • Review of autosomal recessive (cystic fibrosis, phenylketonuria), autosomal dominant (osteogenesis imperfecta, vascular Ehlers-Danlos syndrome), and chromosomal (Turner syndrome) diseases.
  • Outline of pre-conceptual and pregnancy management approaches.
  • Consideration of pharmacogenetics, genetic education, and genetic counseling.

Main Results:

  • Specific examples illustrate management strategies for various inheritance patterns.
  • A framework is proposed for clinicians managing rare genetic diseases in pregnancy.
  • The importance of genetics in maternal medicine is highlighted.

Conclusions:

  • Genetics plays a vital role in maternal medicine, informing management and planning.
  • A structured approach is needed for the safe care of mothers and babies with genetic conditions.
  • Further education and genetic counseling are essential components of care.