Non-Invasive Prenatal Testing

Prenatal screening for chromosomal abnormalities (including sex chromosome aneuploidies) provides the physician and the patient with an accurate assessment of a patient’s risk of carrying a fetus with a chromosomal disorder, such as Down syndrome (trisomy 21). In contrast, prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. Several screening and diagnostic tests are available. All patients should have the opportunity to discuss screening and diagnostic testing options with their clinician to understand the options and risks and benefits of available screening and testing. Patient-centered counseling should be based on the patient’s clinical context, values, interests, and goals and accessible health care resources, and result in an informed patient choice. All patients should have the right to accept or decline screening or testing after counseling.

Health insurance policies should not be a barrier to evidence-based, patient-centered care for all patients.

The American College of Obstetricians and Gynecologists (ACOG)’s clinical recommendations for Screening for Fetal Chromosomal Abnormalities (Practice Bulletin #226) provides an evidence-based analysis of the available medical literature that resulted in the recommendation that all patients should be offered both screening and diagnostic testing options, regardless of maternal age and risk of chromosomal abnormality. Access to these evidence-based, clinically necessary tests should not be delayed and should be available without barriers, such as prior authorization requirements, for all pregnant patients. Highlights of the updated clinical information and recommendations include:

• The advent of chromosomal microarray analysis (CMA) has enabled prenatal detection of submicroscopic chromosomal gains and losses that can have important clinical implications, resulting in nonviable pregnancy or a newborn with a life-limiting condition.
• Chromosomal abnormalities occur in approximately 1 in 150 live births and the incidence of fetal chromosomal abnormalities increases as a woman ages but can affect patients at any age and is not related to race or ethnicity.
• Prenatal genetic screening (serum screening with or without nuchal translucency [NT] ultrasound or cell-free DNA screening) AND diagnostic testing (chorionic villus sampling [CVS] or amniocentesis) options should be discussed and offered to all pregnant patients regardless of age or risk of chromosomal abnormality.
• Patients who prefer comprehensive prenatal detection of as many chromosomal aberrations as possible should be offered diagnostic testing and CMA.
• Cell-free DNA testing is the most sensitive and specific screening test for common fetal aneuploidies; it is not equivalent to diagnostic testing. Even if patients have a negative screening test result, the patient may choose diagnostic testing later.
• All patients should be offered a second-trimester ultrasound for fetal structural defects.

Despite this updated clinical guidance, private health plan and state Medicaid agency policies regarding non-invasive prenatal testing (NIPT) vary. Approximately 80% of insured patients in the US are covered for NIPT regardless of risk, and nearly 100% are covered in a high-risk pregnancy. However, work is still needed to ensure 100% coverage, regardless of insurance status or risk of chromosomal abnormality, is free of administrative burdens and delays. While ACOG has engaged at the federal and national level, regional, state and local plans need grassroots efforts.

This toolkit provides:

• An overview of major payer coverage
• Letter templates that physicians and patients can use to engage in policy advocacy
• Prior authorization requirements
• Additional resources

In This Tool Kit

Current ACOG Guidance

Payer Coverage Overview