PPM - Abnormal Prenatal Screening for Aneuploidy or Open Neural Tube Defects (ONTD)-Description and References

Description and References

Pdf Summary

The document discusses the importance of offering aneuploidy and open neural tube defect (ONTD) screening to all pregnant patients. If abnormal results are obtained, further evaluation and workup are necessary. The learning objectives of the module include reviewing patient history, assessing aneuploidy risk based on screening results and risk factors, providing appropriate counseling and testing options for further evaluation, and offering counseling and testing options for patients with elevated maternal serum alpha-fetoprotein (MSAFP). Different screening methods for aneuploidy are mentioned, with prenatal cell-free DNA screening being the preferred method. The document emphasizes the need to discuss the residual risk of aneuploidy even if the prenatal cell-free DNA screening is negative. Screening for ONTD should be done through ultrasound plus or minus MSAFP, as elevated MSAFP can indicate fetal abnormalities and increased risk of pregnancy-related complications. Patients identified to be at increased risk or have elevated MSAFP require confirmation of gestational age, sonographic evaluation of fetal anatomy, genetic counseling, and discussion of prenatal diagnosis. The document cites several literature references that provide guidelines and evidence-based reviews on the topic. These references discuss the screening for fetal aneuploidy, neural tube defects, and the application of non-invasive prenatal screening using cell-free DNA in general-risk pregnancies. The document also includes an evidence-based clinical guideline from the American College of Medical Genetics and Genomics (ACMG) regarding non-invasive prenatal screening for fetal chromosome abnormalities in a general-risk population.

Keywords

aneuploidy screening

open neural tube defect screening

abnormal results

further evaluation

prenatal cell-free DNA screening

MSAFP

fetal abnormalities

genetic counseling

prenatal diagnosis

general-risk population