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Related Concept Videos

Preventive Healthcare Services01:30

Preventive Healthcare Services

Preventive healthcare services keep people healthy via frequent check-ups, screening, and counseling. They primarily aid in disease prevention rather than treating an acute or chronic illness. Preventive treatment also keeps individuals productive and energetic, allowing them to work well into their retirement years. Examples of preventive care services include:
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...
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.
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 result in visible changes...
Probability Laws01:49

Probability Laws

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Related Experiment Video

Updated: Jun 2, 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

[Preconceptional carrier screening should not be delayed].

Martina C Cornel1, Phillis Lakeman, Wybo Dondorp

  • 1VU medisch centrum, afd. Klinische Genetica, Amsterdam, the Netherlands.

Nederlands Tijdschrift Voor Geneeskunde
|April 21, 2011
PubMed
Summary

Preconceptional carrier screening helps couples identify risks for inherited disorders before pregnancy. Early awareness enables informed reproductive choices and prevents serious childhood diseases.

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Last Updated: Jun 2, 2026

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

FISH for Pre-implantation Genetic Diagnosis
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FISH for Pre-implantation Genetic Diagnosis

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Area of Science:

  • Medical Genetics
  • Public Health Policy

Context:

  • Autosomal recessive disorders pose risks to offspring when both parents are carriers.
  • Current preconceptional screening relies on fragmented local initiatives and unregulated commercial online tests.
  • Lack of standardized national programs hinders informed reproductive decision-making.

Purpose:

  • To highlight the importance of preconceptional carrier screening for autosomal recessive disorders.
  • To advocate for the implementation of national screening programs.
  • To emphasize the need for government responsibility in providing accessible screening.

Summary:

  • Preconceptional carrier screening identifies couples at risk of having children with serious autosomal recessive disorders.
  • The Netherlands has not yet implemented recommended national screening programs for conditions like cystic fibrosis and haemoglobinopathies.
  • Reliance on commercial tests raises concerns about adherence to screening criteria and adequate genetic counseling.

Impact:

  • Empowers couples with knowledge of genetic risks before conception.
  • Facilitates informed reproductive choices and potentially reduces the incidence of severe genetic disorders.
  • Calls for government action to integrate beneficial screening methods into public healthcare.