The ACOG/SMFM practice bulletin that addresses prenatal screening for fetal chromosomal anomalies clearly states that both aneuploidy screening and diagnostic testing “should be discussed and offered to all patients regardless of maternal age or risk for chromosomal abnormality”
Notes
NIPT is a blood test that utilizes cell-free DNA technology (cfDNA) to predict the risk for fetal genetic disorders during pregnancy. In 2011, NIPT was introduced as a screen for T21 (trisomy 21 or Down syndrome). Today, NIPT cover the most common aneuploidies (T21, T13 and T18), as well as sex chromosomes and may also include some microdeletions and single gene genetic disorders
NIPT is a screening test only and not diagnostic. Cell-free DNA (cfDNA) is also commonly used with an understanding that the DNA is derived from placenta and not the fetus. NIPT utilizes next generation sequencing and bioinformatics algorithms to look at the DNA fragments in the mother and fetus, as a way of determining the likelihood of certain genetic conditions in the fetus. While there are multiple panels available, there is consensus regarding the clinical utility of NIPS screening for T13, T18 and T21. Patient education, especially around the concept of positive predictive value (PPV) is a priority. Calculator tools are available from professional societies (see ‘Learn More – Primary Sources’ below) or ideally laboratories should be able to provide obstetric professionals with real world test performance results.
Trisomies
Microdeletions
Note: NIPT is a screening test and not diagnostic | Regardless of PPV, screen positive results require patients be offered invasive diagnostic testing to confirm results
Follow-Up for ‘No Call Result’
Note: It is preferred that the laboratory report the fetal fraction
Note: ACMG provides healthcare professionals with open access ‘ACT Sheets’ to guide next steps following a positive NIPT report (see ‘Learn More – Primary Sources’ below)
ACOG Practice Bulletin 226: Screening for Fetal Chromosomal Abnormalities
ACOG Practice Advisory: Cell-free DNA to Screen for Single-Gene Disorders
ACOG Statement on FDA Warning on Genetic Non-Invasive Prenatal Screening Tests | ACOG
ACMG ACT Sheets and Algorithms
Analysis of cell‐free DNA in maternal blood in screening for aneuploidies: updated meta‐analysis
NIPT/Cell Free DNA Screening Predictive Value Calculator
GHR: What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?
Maternal Fetal Medicine Specialist Locator-SMFM
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