Related Experiment Video
Updated: Jun 10, 2026
09:03
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
An overview of first-trimester screening for chromosomal abnormalities
Ray O Bahado-Singh1, Pedro Argoti
1Department of Obstetrics and Gynecology, Wayne State University, Detroit, MI, USA. rbahados@med.wayne.edu
Clinics in Laboratory Medicine
|July 20, 2010
Summary
First-trimester Down syndrome screening is now a clinical reality, matching or surpassing midtrimester accuracy. This advancement fulfills the need for early diagnosis in pregnancy.
Area of Science:
- Prenatal diagnostics
- Genetics
- Obstetrics
Background:
- Down syndrome screening has evolved significantly over the past decade.
- Early diagnosis is a key desire for expectant mothers.
Purpose of the Study:
- To highlight the transition of first-trimester Down syndrome screening from concept to clinical practice.
- To emphasize the diagnostic performance and patient benefits of early screening.
Main Methods:
- Review of advancements in first-trimester screening protocols.
- Comparative analysis of diagnostic accuracy between first-trimester and midtrimester screening methods.
Main Results:
- First-trimester screening now achieves diagnostic accuracy comparable to or better than conventional midtrimester screening.
- The implementation of early screening meets the demand for timely diagnostic information.
Conclusions:
- First-trimester Down syndrome screening is a validated and valuable clinical tool.
- This progress underscores the critical role of clinical research in advancing prenatal care.
Related Concept Videos
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
01:07Teratogenicity
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
02:57Meiosis vs. Mitosis
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...