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

Related Concept Videos

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....

Genetic Screens

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...

You might also read

Related Articles

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

Sort by

Same author

Birth After Uterus Transplant.

JAMA·2026

Same author

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples.

Prenatal diagnosis·2026

Same author

Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies.

Prenatal diagnosis·2026

Same author

Trends in antenatal corticosteroid use among late preterm twins and triplets in the United States following the Antenatal Late Preterm Steroids trial.

American journal of obstetrics and gynecology·2026

Same author

Whole-Genome Amplification on Single Circulating Trophoblast Cell.

Methods in molecular biology (Clifton, N.J.)·2026

Same author

Loss of the maternal effect gene NLRP2 impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies†.

Biology of reproduction·2025

Search research articles

Related Experiment Video

Updated: Apr 29, 2026

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 by next-generation sequencing.

Anthony R Gregg¹, Ignatia B Van den Veyver, Susan J Gross

¹Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Florida College of Medicine, Gainesville, Florida 32610;

Annual Review of Genomics and Human Genetics

|May 23, 2014

Summary

This summary is machine-generated.

Noninvasive prenatal screening (NIPS) offers high accuracy for fetal Down syndrome detection. Future applications aim to provide early, risk-free fetal genomic information for informed reproductive decisions.

Keywords:

cell-free DNA fetal aneuploidy noninvasive prenatal screening noninvasive prenatal testing

More Related Videos

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Related Experiment Videos

Last Updated: Apr 29, 2026

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

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Genetics
Maternal-Fetal Medicine
Bioinformatics

Background:

Noninvasive prenatal screening (NIPS) is a highly accurate method for detecting fetal Down syndrome.
Current challenges to NIPS adoption include cost and the need for updated genetic counseling protocols.
The core technologies of NIPS, including fetal genome measurement and sequencing, are advancing rapidly.

Purpose of the Study:

To evaluate the accuracy and potential of noninvasive prenatal screening (NIPS) for fetal Down syndrome.
To discuss the implications of NIPS technology on genetic counseling and patient decision-making.
To explore the future integration of NIPS components for comprehensive fetal genome analysis.

Main Methods:

Analysis of NIPS detection rates and specificity for fetal Down syndrome.
Review of current challenges, including cost and counseling paradigms.
Projection of future applications of NIPS technologies in prenatal diagnostics.

Main Results:

NIPS demonstrates near 100% accuracy in detecting fetal Down syndrome.
Cost is a significant barrier, expected to decrease with wider utilization.
NIPS components hold potential for broader fetal genome interrogation beyond current screening.

Conclusions:

NIPS provides a safe and accurate method for early fetal Down syndrome screening.
Advancements in NIPS technology will enable comprehensive, risk-free fetal genomic analysis.
Informed reproductive and pregnancy management decisions can be facilitated by early genomic insights.