Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Video

Updated: Jul 17, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Noninvasive Prenatal Screening for Single-Gene Disorders.

Zenobia Gonsalves¹, Susan Klugman

¹Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.

Clinical Obstetrics and Gynecology

|August 31, 2023

Summary

Prenatal screening for single-gene disorders (SGDs) using cell-free DNA faces challenges, particularly with maternally inherited variants. Current methods have limitations and lack support from medical societies.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics·2025

Same author

Intravenous immunoglobulin (IVIG) therapy in pregnancies complicated by acute Parvovirus B19 infection in the second trimester: a case series.

Case reports in perinatal medicine·2025

Same author

Case study: autoimmune hepatitis with cirrhosis and pancytopenia since 7 weeks' gestation.

Case reports in perinatal medicine·2025

Same author

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics·2024

Same author

Detection of the epidemic Pseudomonas aeruginosa AUST-03 (ST242) strain in people with cystic fibrosis in South Africa.

Pediatric pulmonology·2024

Area of Science:

Genetics
Molecular Biology
Prenatal Diagnostics

Background:

Single-gene disorders (SGDs), or monogenic disorders, result from variants in individual genes.
Prenatal cell-free DNA (cfDNA) screening for SGDs has been researched for many years.
Detecting maternally inherited variants presents a significant hurdle in prenatal SGD screening.

Purpose of the Study:

To evaluate the current state and limitations of prenatal cell-free DNA screening for single-gene disorders.
To highlight the challenges associated with detecting maternally inherited variants.

Main Methods:

Review of existing research and clinical applications of prenatal cfDNA screening for SGDs.
Analysis of the technical difficulties in identifying paternally, maternally, and de novo variants.

More Related Videos

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Related Experiment Videos

Last Updated: Jul 17, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Main Results:

While detecting paternal and de novo variants is relatively feasible, maternally inherited variants remain challenging.
Commercial prenatal cfDNA screening tests for SGDs are available but possess notable limitations.
Current professional medical societies do not endorse the use of these SGD screening methods.

Conclusions:

Prenatal cfDNA screening for SGDs is an evolving field with significant technical challenges.
The limitations and lack of professional endorsement restrict the widespread clinical utility of current SGD screening approaches.