PPM - Prenatal Cell-Free DNA Screening-Checklist

Checklist

Pdf Summary

This document outlines a checklist for healthcare providers to ensure that the necessary information is being asked and recorded during patient visits related to prenatal cell-free DNA screening. The checklist includes items such as reviewing the patient's age, family history, and personal history, as well as discussing the concept of prenatal cell-free DNA screening with the patient, including its detection rate and positive predictive value. Alternative screening and diagnostic options for aneuploidy are also to be reviewed.<br /><br />If ultrasound abnormalities are noted, diagnostic testing should be recommended. The patient should be offered maternal serum alpha-fetoprotein (MSAFP) testing only at the appropriate window in the second trimester. The potential for rare but unanticipated results, such as maternal cancer, should be discussed with the patient. The potential for "no call" results should be reviewed, along with risk factors for these results, such as low fetal fraction and obesity.<br /><br />Additionally, the document suggests discussing the screening for sex chromosome aneuploidies, including results beyond male and female. If applicable, the option of microdeletion testing on the same sample should be mentioned, including its detection rate and positive predictive value compared to aneuploidy testing.<br /><br />Following the prenatal cell-free DNA screening, healthcare providers should confirm the lab report in the patient's chart and inform the patient of the results and their implications. If a positive or "no call" result is obtained, the patient should be offered diagnostic testing and counseled about the results. If a positive result is obtained, the positive predictive value should be re-discussed with the patient.

Keywords

healthcare providers

prenatal cell-free DNA screening

patient visits

checklist

ultrasound abnormalities

diagnostic testing

maternal serum alpha-fetoprotein (MSAFP) testing

rare but unanticipated results

no call results

positive predictive value