PPM - Prenatal Cell-Free DNA Screening-Prenatal Cell-Free DNA Screening Introduction and References

Prenatal Cell-Free DNA Screening Introduction and References

Pdf Summary

Prenatal cell-free DNA screening is an important part of prenatal genetics practice. It is used to screen for common trisomies and sex chromosomal abnormalities, and some platforms now include testing for microdeletions/copy number variations. Pretest counseling is necessary to ensure patients can make informed decisions about the screening and understand the potential consequences of a positive or negative result. Geneticists tasked with counseling prenatal patients should be familiar with the current information and guidelines regarding prenatal cell-free DNA screening. The American College of Medical Genetics and Genomics and the Society for Maternal-Fetal Medicine have both issued position statements and guidance on this topic. It is important for laboratories performing the testing to report the results appropriately. Overall, prenatal cell-free DNA screening is a valuable tool in prenatal care but requires careful counseling and reporting to ensure patients receive accurate information and make informed decisions.

Keywords

Prenatal cell-free DNA screening

Prenatal genetics practice

Trisomies

Sex chromosomal abnormalities

Microdeletions

Copy number variations

Pretest counseling

Positive result

Negative result

Geneticists