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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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  3. Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions.
  1. Home
  3. Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions.

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Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions.

Christian M Parobek1, Roni Zemet1, Vivienne Souter2

  • 1Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX, USA; Baylor College of Medicine, Department of Obstetrics and Gynecology, Houston, TX, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|June 16, 2026

View abstract on PubMed

Summary
This summary is machine-generated.

Reproductive carrier screening (RCS) can detect early actionable metabolic conditions (EAMCs) prenatally. This approach aids in early intervention, potentially reducing disease severity for newborns.

Keywords:
Clinical GeneticsEarly actionable metabolic conditions (EAMCs)Metabolic DisordersReproductive Carrier Screening (RCS)newborn screening panels

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Published on: August 17, 2022

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Reproductive Health

Background:

  • Early actionable metabolic conditions (EAMCs) are severe disorders with available early interventions.
  • These conditions are not consistently included in newborn screening panels.
  • Prenatal detection via reproductive carrier screening (RCS) offers a potential avenue for early intervention.

Purpose of the Study:

  • To evaluate the clinical utility of detecting EAMC gene variants prenatally using RCS.
  • To assess the carrier frequencies and theoretical affected pregnancy rates for EAMCs.

Main Methods:

  • Identified 110 EAMCs from 113- and 275-gene carrier panels.
  • Determined carrier status for EAMCs in 54,119 women undergoing RCS (2022-2024).
  • Calculated theoretical affected pregnancy rates based on observed carrier frequencies.

Main Results:

  • Carrier frequency for any EAMC was 1 in 6 (113-gene panel) and 1 in 4 (275-gene panel).
  • Theoretical affected pregnancy rates were 0.07% (113-gene panel) and 0.08% (275-gene panel).
  • Prevalent EAMCs included phenylketonuria, congenital adrenal hyperplasia, Wilson disease, Smith-Lemli-Opitz syndrome, and MCADD.

Conclusions:

  • RCS enables prenatal detection of EAMCs.
  • Early detection through RCS facilitates timely intervention.
  • This can potentially reduce morbidity associated with certain metabolic disorders.