Benefit verification and regulatory checks

Verify member benefits, plan coverage, and any Medicare/Medicaid-specific requirements prior to ordering noninvasive prenatal screening (NIPS) or diagnostic testing. Confirm eligibility for laboratory benefits under the member's plan and obtain prior authorization when required by the payer.

• Check member's active coverage and effective dates
• Follow Medicare/Medicaid coverage rules where applicable
• Obtain prior authorization if the plan or product requires it

Confirmatory testing recommendation and test availability

Positive NIPS results are screening findings only and should be followed by confirmatory diagnostic testing. Diagnostic testing options (CVS or amniocentesis) should be discussed and made available; multiple commercial NIPS platforms and laboratory-developed tests exist and may have differing performance characteristics.

• Recommend confirmatory diagnostic testing (karyotype or chromosomal microarray) after a positive NIPS result
• Be aware that multiple validated commercial NIPS platforms are available (e.g., Harmony, MaterniT21, verifi, Panorama, and others)
• Document counseling and the patient’s informed decision regarding follow-up diagnostic testing

Counseling and offers per ACOG/SMFM

Discuss and offer prenatal genetic screening and diagnostic testing options to all pregnant individuals regardless of age or baseline risk. Counseling should cover that NIPS is the most sensitive screening for common aneuploidies but is not diagnostic, can yield false-positive and false-negative results, and does not assess neural tube or many other anomalies. Offer second-trimester fetal anatomy ultrasound (ideally 18–22 weeks) and genetic counseling for positive or inconclusive results.

• Offer one screening approach — avoid performing multiple screening tests simultaneously
• Inform patients that a negative screen lowers but does not eliminate risk; allow opportunity for diagnostic testing later if indicated
• For 'no-call' or uninterpretable NIPS results, inform patient of increased aneuploidy risk and offer ultrasound evaluation and diagnostic testing

Diagnostic options by gestational age (NSGC)

Offer diagnostic testing according to gestational age per NSGC guidance: CVS is the preferred diagnostic option in the first trimester (when diagnostic testing is pursued prior to ~15 weeks), while amniocentesis is the diagnostic option after 15 weeks. Early amniocentesis prior to 15 weeks is not recommended due to increased risks. For patients presenting prior to 14 weeks who are at increased risk, offer both CVS and amniocentesis; if presenting after 14 weeks, offer amniocentesis. Consider referral for fetal echocardiography when increased nuchal translucency (≥95th percentile or ≥3.0 mm) is identified.

• Offer CVS in the first trimester as the diagnostic test of choice if diagnostic testing is desired early
• Avoid amniocentesis before 15 weeks; offer amniocentesis for diagnostic testing after 15 weeks
• For increased NT (≥95th % or ≥3.0 mm), offer diagnostic testing (CVS or amniocentesis) and consider fetal echocardiogram if NT ≥3.5 mm

FDA safety communication — NIPS usage and counseling

Adhere to FDA recommendations regarding NIPS: these tests are screening tools (many are laboratory-developed tests not FDA-cleared) and can produce false results. Prior to testing, discuss benefits, limitations, and risks with the patient and recommend genetic counseling when possible. Emphasize that NIPS is not diagnostic and that confirmatory invasive testing should be used to definitively diagnose fetal aneuploidy.

• Inform patients that NIPS accuracy/performance have not been evaluated by the FDA and NIPS can yield false-positive or false-negative results
• Recommend discussion with a genetic counselor or qualified healthcare provider before testing
• Ensure documentation of counseling about NIPS limitations and plan for confirmatory diagnostic testing if screening is positive