Related Experiment Video
Updated: Jan 31, 2026
08:53
Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
Published on: June 10, 2017
10.5K
Fetal Exome Sequencing on the Horizon
Karen Wou1, Isabelle DeBie2, June Carroll3
1Department of Gynecology and Obstetrics, McGill University Health Centre, Montréal, QC.
Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC
|December 25, 2018
Summary
Prenatal whole exome sequencing is a new technology for diagnosing fetal anomalies. While not yet standard, it offers future diagnostic potential for expecting parents.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Genomic Medicine
Background:
- Prenatal diagnosis of fetal anomalies is crucial for genetic counseling and management.
- Emerging genomic technologies are transforming prenatal care.
- Whole exome sequencing (WES) analyzes the protein-coding regions of the genome.
Purpose of the Study:
- To introduce prenatal whole exome sequencing (WES).
- To discuss its current and future role in diagnosing fetal anomalies.
- To outline its indications, benefits, and limitations.
Main Methods:
- This is a commentary discussing a new technology.
- It reviews the current literature and expert opinion on prenatal WES.
- It focuses on the application of WES in identifying genetic causes of fetal anomalies.
Main Results:
- Prenatal WES is an evolving technology with significant potential.
- It can identify genetic variants underlying fetal anomalies.
- Current limitations exist, preventing widespread clinical adoption.
Conclusions:
- Prenatal WES is poised to become a valuable diagnostic tool.
- It will aid clinicians in managing pregnancies with identified fetal anomalies.
- Further development is needed for routine clinical integration.
More Related Videos
08:22A 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
9.1K
07:28A Contusive Model of Unilateral Cervical Spinal Cord Injury Using the Infinite Horizon Impactor
Published on: July 24, 2012
20.4K
Related Concept Videos
01:21Schwarzschild Radius and Event Horizon
2.7K
No object with a finite mass can travel faster than the speed of light in a vacuum. This fact has an interesting consequence in the domain of extremely high gravitational fields.
The minimum speed required to launch a projectile from the surface of an object to which it is gravitationally bound so that it eventually escapes the object’s gravitational field is called the escape velocity. The escape velocity is independent of the mass of the object. Merging the idea of escape...
The minimum speed required to launch a projectile from the surface of an object to which it is gravitationally bound so that it eventually escapes the object’s gravitational field is called the escape velocity. The escape velocity is independent of the mass of the object. Merging the idea of escape...
2.7K
01:14Fetal Circulation
2.9K
Fetal circulation is a unique system that facilitates the exchange of gases, nutrients, and waste products between the developing fetus and the mother. This intricate process takes place through a special organ called the placenta.
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
2.9K
02:02Cis-regulatory Sequences
11.8K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
11.8K
01:29Sequences
275
Sequences are fundamental mathematical objects consisting of ordered lists of numbers that follow a specific rule or pattern. Sequences are critical in various mathematical concepts, including calculus, series, and number theory. They can model real-world phenomena such as population growth, financial investments, and physical processes like the diminishing height of a bouncing ball.Each number in a sequence is referred to as a term. Typically, the terms are denoted as a1, a2, a3,…, where...
275
01:57Sanger Sequencing
774.5K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
774.5K
01:30Arithmetic Sequences
236
An arithmetic sequence is a structured arrangement of numbers where each term is derived by adding a constant value, known as the common difference, to the previous term. This consistent pattern allows for the efficient computation of any term within the sequence as well as the cumulative sum of multiple terms. The formula for finding the nth term of an arithmetic sequence is:Here, aₙ represents the nth term of the sequence, a is the first term, d is the common difference, and n is the...
236