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Related Concept Videos

Teratogenicity01:07

Teratogenicity

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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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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
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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Related Experiment Video

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Fetal Aneuploidy: Screening and Diagnostic Testing.

Nicholas M LeFevre1, Richard L Sundermeyer2

  • 1John Peter Smith Hospital Family Medicine Residency Program, Fort Worth, TX, USA.

American Family Physician
|April 16, 2020
PubMed
Summary
This summary is machine-generated.

Fetal aneuploidy screening options are available for all pregnant women. Noninvasive prenatal testing offers superior detection rates for trisomy 21 (Down syndrome) compared to traditional screening methods.

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Area of Science:

  • Genetics
  • Obstetrics
  • Prenatal Diagnostics

Background:

  • Aneuploidy, an abnormal chromosome number, poses risks in pregnancy.
  • Maternal age is a significant risk factor for fetal aneuploidy.
  • Screening is recommended for all pregnancies due to aneuploidy's prevalence.

Purpose of the Study:

  • To review current aneuploidy screening methods.
  • To compare the efficacy of different screening techniques.
  • To highlight advancements in prenatal diagnostics.

Main Methods:

  • Review of first-trimester combined screening (82%-87% trisomy 21 detection).
  • Review of second-trimester serum quadruple screening (81% trisomy 21 detection).
  • Evaluation of combined screening strategies (integrated, sequential).
  • Analysis of fetal cell-free DNA testing (noninvasive prenatal testing, >99% trisomy 21 detection).
  • Consideration of diagnostic procedures (chorionic villus sampling, amniocentesis).

Main Results:

  • First and second-trimester screenings have moderate detection rates for trisomy 21.
  • Combined screening methods improve detection rates.
  • Fetal cell-free DNA testing demonstrates high detection rates (>99%) for trisomy 21 with lower false positives.
  • Diagnostic tests like CVS and amniocentesis confirm positive screening results.

Conclusions:

  • Fetal cell-free DNA testing is a highly effective screening tool for fetal aneuploidy.
  • Noninvasive prenatal testing offers advantages over traditional screening methods.
  • A range of screening and diagnostic options are available for aneuploidy detection.