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Related Concept Videos

Teratogenicity01:07

Teratogenicity

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...
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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...
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Related Experiment Video

Updated: Jun 3, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

[First trimester and second-trimester integrated screening for Down's syndrome].

Zheng-you Miao1, Xia Liu, Tong-kun Shi

  • 1Center of Prenatal Diagnosis, Maternity & Children Health Hospital of Jiaxing, Medical School of Jiaxing College, Jiaxing 314050, China.

Zhonghua Yi Xue Za Zhi
|March 23, 2011
PubMed
Summary
This summary is machine-generated.

Integrated screening for Down's syndrome is more effective than single-trimester screening. This approach offers a higher detection rate and fewer false positives, reducing the need for invasive diagnostic procedures.

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Last Updated: Jun 3, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

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
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Area of Science:

  • Prenatal diagnostics
  • Maternal serum screening
  • Fetal aneuploidy screening

Background:

  • Down's syndrome screening involves assessing risks during pregnancy.
  • First and second-trimester screenings have limitations in detection rates and efficiency.
  • Integrated screening aims to improve the accuracy and effectiveness of Down's syndrome detection.

Purpose of the Study:

  • To evaluate the effectiveness of integrated first and second-trimester screening for Down's syndrome.
  • To establish an efficient screening protocol for Down's syndrome.
  • To compare the performance of integrated screening with individual trimester screenings.

Main Methods:

  • Utilized dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) for biochemical markers: free beta human chorionic gonadotropin (βhCG), pregnancy-associated plasma protein-A (PAPP-A), alpha-fetoprotein (AFP).
  • Assessed nuchal translucency (NT) using type B ultrasound.
  • Calculated risks using specialized software for first-trimester, second-trimester, and integrated screening; invasive procedures (amniocentesis, venepuncture) for high-risk cases (>1/270).

Main Results:

  • Out of 4237 pregnant women, first-trimester screening identified 98 high-risk cases, second-trimester identified 241, and integrated screening identified 101.
  • Down's syndrome was diagnosed in 2, 3, and 4 cases corresponding to the screening methods.
  • Detection rates were 50%, 75%, and 100% with detection efficiencies of 1:50, 1:80, and 1:25, respectively.

Conclusions:

  • Integrated screening demonstrates superiority over first or second-trimester screening alone.
  • Integrated screening offers a reduced false positive rate and an elevated detection rate, minimizing unnecessary invasive procedures.
  • Advancements in ultrasound technology are recommended to enhance first-trimester screening efficiency and refine integrated protocols.