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Updated: Dec 29, 2025

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
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Maternal genetic disorders and fetal development.

Anne H Mardy1, Shilpa P Chetty1, Mary E Norton1

  • 1University of California, San Francisco, Division of Maternal Fetal Medicine, San Francisco, CA, USA.

Prenatal Diagnosis
|February 4, 2020
PubMed
Summary
This summary is machine-generated.

Women with genetic disorders face increased pregnancy risks, including fetal complications and adverse perinatal outcomes. Understanding and managing these maternal conditions is crucial for better maternal and infant health.

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Area of Science:

  • Medical Genetics
  • Maternal-Fetal Medicine
  • Reproductive Health

Background:

  • Increasing numbers of women with genetic disorders are reaching reproductive age.
  • Pregnancy in these women poses risks to both maternal health and fetal development.
  • Maternal genetic conditions can lead to adverse perinatal outcomes like fetal growth restriction and preterm birth.

Purpose of the Study:

  • To review key maternal genetic disorders impacting pregnancy.
  • To highlight associated fetal risks and perinatal complications.
  • To inform clinicians and patients for appropriate management.

Main Methods:

  • Literature review of maternal genetic disorders and pregnancy outcomes.
  • Synthesis of information on specific conditions and their fetal effects.
  • Identification of conditions requiring careful clinical attention during pregnancy.

Main Results:

  • Pregnancy in women with genetic disorders can result in embryopathy, fetal growth restriction, and brain injury.
  • Conditions such as phenylalanine hydroxylase (PAH) deficiency, cystic fibrosis, and sickle cell disease present significant risks.
  • Maternal genetic disorders are linked to increased perinatal loss and preterm birth rates.

Conclusions:

  • Effective management of maternal genetic disorders is essential for optimizing pregnancy outcomes.
  • Awareness of specific genetic conditions like tuberous sclerosis complex and myotonic dystrophy is critical for prenatal care.
  • This review provides a foundation for understanding and managing pregnancy in women with genetic conditions.