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Related Concept Videos

Teratogenicity01:07

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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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Related Experiment Video

Updated: Oct 11, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Fetal Screening for Chromosomal Abnormalities.

Desiree G Fiorentino1, Francine Hughes1

  • 1Montefiore Medical Center/Albert Einstein College of Medicine, Department of Obstetrics & Gynecology and Women's Health, Division of Maternal-Fetal Medicine, Bronx, NY.

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|December 1, 2021
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Summary
This summary is machine-generated.

Genetic screening during pregnancy offers various options for detecting chromosomal disorders. Healthcare providers must understand each test

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Area of Science:

  • Reproductive genetics
  • Prenatal diagnostics
  • Medical screening

Background:

  • Increasing number of reproductive-aged women seek genetic screening during pregnancy.
  • No single prenatal genetic screening test is universally superior.
  • Test selection depends on specific conditions and patient population, impacting predictive values.

Purpose of the Study:

  • To review current prenatal genetic screening options for chromosomal disorders.
  • To discuss the advantages and limitations of available screening methods.
  • To explore future advancements in prenatal genetic testing.

Main Methods:

  • Review of ultrasonography for prenatal screening.
  • Analysis of maternal serum analytes for genetic screening.
  • Evaluation of cell-free DNA (cfDNA) screening methods.
  • Discussion of preimplantation genetic testing (PGT).

Main Results:

  • Current screening options include ultrasonography, serum markers, cfDNA, and PGT.
  • Each method has distinct capabilities and limitations in identifying chromosomal abnormalities.
  • Future directions include cell-based noninvasive prenatal screening (NIPS) and expanded cfDNA screening for copy number variants.

Conclusions:

  • Effective prenatal genetic screening requires understanding diverse testing modalities.
  • Counseling for genetic screening is complex, often involving multidisciplinary specialists.
  • Advancements aim to improve accuracy and scope of prenatal genetic testing.