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Related Concept Videos

Karyotyping01:17

Karyotyping

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...
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Ultrasonography is an imaging technique that uses high-frequency sound waves to visualize the body's internal structures. It is a non-invasive and safe procedure that does not involve the use of ionizing radiation, making it widely used in various medical fields. Ultrasonography is used to study heart function, blood flow in the neck or extremities, certain conditions such as gallbladder disease, and fetal growth and development.
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Meiosis vs. Mitosis02:57

Meiosis 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.
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Meiosis I01:49

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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Genetic Screens02:46

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.
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Related Experiment Video

Updated: Jul 15, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Published on: August 17, 2022

Genetic sonography after first-trimester Down syndrome screening.

D A Krantz1, T W Hallahan, V J Macri

  • 1Research Division, NTD Laboratories, Huntington Station, New York 11746, USA. dakrantz@ntdlabs.com

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|May 12, 2007
PubMed
Summary

Second-trimester genetic sonography effectively enhances first-trimester Down syndrome screening. This sequential approach improves detection rates for Down syndrome with minimal false positives.

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Published on: February 15, 2013

Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Maternal-fetal medicine

Background:

  • First-trimester screening identifies approximately 90% of Down syndrome cases.
  • There is a need to improve detection rates and optimize screening protocols for Down syndrome.

Purpose of the Study:

  • To evaluate the effectiveness of second-trimester genetic sonography as a sequential screening tool for Down syndrome.
  • To assess its performance when combined with first-trimester screening.

Main Methods:

  • A simulation study using published statistical parameters for first and second-trimester screening markers.
  • Modeling the impact of second-trimester genetic sonography on Down syndrome detection and false-positive rates.

Main Results:

  • First-trimester screening alone yielded an 88.5% detection rate with a 4.2% false-positive rate.
  • Sequential screening using genetic sonography improved detection rates, achieving up to 94.6% with a 5.4% false-positive rate.
  • Contingent protocols showed a total detection rate of 93.3% with a 4.9% false-positive rate.

Conclusions:

  • Second-trimester genetic sonography is an effective sequential screen for Down syndrome when used after first-trimester screening.
  • Further research is recommended to define its optimal role in prenatal screening protocols.