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

Pedigree Analysis

Pedigree Analysis

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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...

Karyotyping

Karyotyping

Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

You might also read

Related Articles

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

Sort by

Same author

Linking maternal blood pressure with fetal cerebral haemodynamics and cortical growth in congenital heart disease.

EBioMedicine·2026

Same author

Maternal and fetal HLA heterozygosity in preeclampsia: Insights from a large multi-ancestry pregnancy cohort.

medRxiv : the preprint server for health sciences·2026

Same author

SPELL: A scalable NLP method using regular expressions and large language models for clinical information extraction.

Computer methods and programs in biomedicine·2026

Same author

Placental Dysfunction and Congenital Heart Disease: Investigating the Placenta-Heart Axis.

Prenatal diagnosis·2026

Same author

Associations between hematologic dynamics during pregnancy and obstetric complications: A retrospective observational study.

PLoS medicine·2026

Same author

Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing.

Prenatal diagnosis·2026

Search research articles

Related Experiment Video

Updated: May 7, 2025

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions.

Sophie Adams¹, Olivia Maher Trocki¹, Christina Miller¹

¹Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.

Clinical Chemistry

|January 3, 2025

Summary

Routine cell-free DNA screening for single-gene disorders (cfDNA-SGD) identified high-risk results in 0.51% of pregnancies. This enables early intervention but presents counseling challenges due to variant classification and expressivity.

More Related Videos

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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Experiment Videos

Last Updated: May 7, 2025

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

Genetics
Reproductive Medicine
Molecular Diagnostics

Background:

Genetic screening has evolved from aneuploidy detection to single-gene disorders (cfDNA-SGD).
Clinical validation of cfDNA-SGD is promising in high-risk pregnancies but less studied in the general population.

Purpose of the Study:

To evaluate the utility and outcomes of routine cell-free DNA screening for single-gene disorders (cfDNA-SGD) in a general pregnant population.
To assess the concordance and clinical significance of cfDNA-SGD results.

Main Methods:

Retrospective chart review of pregnancies undergoing cfDNA-SGD screening for 25 autosomal dominant conditions.
Exclusion of pregnancies with ultrasound anomalies or known family history.
Analysis of screening concordance, pregnancy outcomes, and phenotypes.

Main Results:

9.4% of pregnancies underwent cfDNA-SGD screening, with 78.9% being routine.
0.51% of routine screenings yielded high-risk results (pathogenic/likely pathogenic variants).
Diagnostic testing confirmed variants in 11/14 affected pregnancies/newborns, with no false positives but two discrepant classifications.

Conclusions:

Routine cfDNA-SGD screening identifies 0.51% of pregnancies as high-risk, necessitating further evaluation.
Early identification through cfDNA-SGD allows for timely intervention.
Challenges include counseling due to variable expressivity, limited genotype-phenotype correlations, and classification discrepancies.