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FISH for Pre-implantation Genetic Diagnosis
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Prenatal Diagnosis: Screening and Diagnostic Tools.

Laura M Carlson1, Neeta L Vora1

  • 1Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, 3010 Old Clinic Building, CB #7516, Chapel Hill, NC 27599-7516, USA.

Obstetrics and Gynecology Clinics of North America
|May 14, 2017
PubMed
Summary

All pregnant individuals should consider aneuploidy screening or diagnostic testing. Understanding the various prenatal screening and diagnostic options is crucial for informed decision-making and personalized care.

Keywords:
AmniocentesisAneuploidyCell-free DNAChorionic villus samplingGenetic screeningNoninvasive prenatal screening

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Area of Science:

  • Obstetrics and Gynecology
  • Prenatal Diagnostics
  • Genetics

Background:

  • The American Congress of Obstetricians and Gynecologists recommends aneuploidy screening or diagnostic testing for all pregnant individuals.
  • A wide range of screening and diagnostic tests are available, tailored to patient risk profiles and gestational age.

Purpose of the Study:

  • To review the available prenatal screening and diagnostic modalities for aneuploidy.
  • To highlight the importance of comprehensive pretest and posttest counseling for patients undergoing aneuploidy testing.

Main Methods:

  • Review of current screening and diagnostic testing options for fetal aneuploidy.
  • Discussion of traditional serum analyte screening (first-trimester screening, quadruple screening) and cell-free DNA screening.
  • Inclusion of diagnostic methods such as chorionic villus sampling and amniocentesis.

Main Results:

  • Multiple screening and diagnostic options exist, including serum analytes, cell-free DNA, chorionic villus sampling, and amniocentesis.
  • The complexity of these options can challenge physician counseling and patient comprehension.

Conclusions:

  • Effective prenatal counseling is essential for ensuring patients understand aneuploidy testing results.
  • Aligning testing strategies with individual patient goals is paramount for informed reproductive choices.