NIPT ordering transition from Meriter – overview and workflow

February 3, 2026

Precision Health

Alex Cummings

Non-Invasive Prenatal Testing (NIPT) Overview

• Recommended by ACOG to screen for fetal aneuploidies.
• Standard – Trisomy 13, 18, 21

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• ACMG recommends 22q be offered to all pregnant individuals

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• Other Add-ons available, but not considered standard of care
• Microdeletions and Trisomy 16 and 22
• Genome – Screens all chromosomes for anomalies*
• Fetal RhD via NIPT*

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• ~2,500 UWH patients per year

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*not available through UW Health at this time.

Historic vs New NIPT states

OB offers choice of MSS or NIPT

Meriter pre-test genetic counseling

Meriter GC orders NIPT

Meriter GC notifies pt of results

Pt selects NIPT

Historic

PT chooses NIPT

• GCs enter the order into the Natera portal
• Meriter lab prepares specimen for send-out

Meriter GCs track results and deliver to patients

High risk patients should still be referred to Meriter

• Family History: Known genetic conditions or birth defects.
• If cancer history or cancer predisposition syndrome refer to Carbone Cancer Center, not Meriter
• Pre-Pregnancy Consults: For planning and risk assessment.
• Expanded Carrier Screening: Comprehensive genetic risk evaluation.
• Pregnancy History: Previous genetic conditions or anomalies.
• Special Testing Needs: Triplets, patients with chromosome translocations, patients with a chromosomal condition (i.e. Turner syndrome, 22q11.2 deletion syndrome, etc)
• Multiple NIPT test failures (do a redraw after first failure, refer after second test failure)
• Positive Screening Results: Carrier screening, NIPT, or other genetic tests.
• Patient Concerns: Anxiety or questions about genetic risk.

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Why the transition and why Labcorp?

• Meriter wanted to discontinue seeing patients for pre-test NIPT counseling by 3/1/26
• UW Health needed to have an interfaced test option given the sensitive nature of this testing and to accommodate the volume of testing without additional FTE
• LabCorp and UW Health already had a HealthLink interface
• UW Health clinical lab could not reasonably complete an additional interface within the given timeline
• Labcorp’s test is medically equivalent to other historically used options
• Meets Meriter’s timeline

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Workflow Using Interfaced Labcorp Test

*Patients with positive results are referred to Meriter

Tentative Go-live for the HealthLink orders is 2/23/26

Non-reportable Rates – Sensitivity - Specificity

1. Palomaki GE, deciu C, lambert-messerlian GM, et al. DNA sequencing of maternal plasma to detect down syndrome: an international clinical validation study. Genet med. 2011;13(11):913-920.
2. Palomaki ge, deciu c, kloza em, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13, as well as down syndrome: an international collaborative study. Genet med. 2012;14(3):296-305.
3. Norton me, brar h, weiss j, et al. Non-invasive chromosomal evaluation (NICE) study: results of a multicenter, prospective, study for detection of fetal trisomy 21 and trisomy 18. Am J obstet gynecol. 2012 aug;207(2):137.E1-8.
4. Bianchi dw, platt ld, goldberg jd, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet gynecol. 2012 may;119(5):890-901.
5. Pergament e, cuckle h, phil d, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet gynecol. 2014 august; 124(2 0 1): 210–218.
6. Canick ja, kloza em, lambert-messerlian gm, et al. DNA sequencing of maternal plasma to identify down syndrome and other trisomies in multiple gestations. Prenat diagn. 2012 aug;32(8):730-4.
7. Mazloom, a, oeth p, wang t, et al. Accuracy of noninvasive prenatal sex determination using massively parallel sequencing in samples from a large clinical validation study. Poster presented at american society of human genetics annual meeting; 2012 nov 6-10; san francisco, CA.
8. Mazloom ar, džakula ž, oeth p. Et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat diagn. 2013 jun;33(6):591-7.
9. Porreco rp, garite tj, maurel k, et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J obstet gynecol. 2014 oct;211(4):365.E1-128.
10. Internal Data.

• In a high-risk group, MaterniT 21 PLUS showed a positive predictive value greater than 97.9% for trisomy 21.⁹

• The MaterniT 21 PLUS test has been validated in clinical studies that tested samples from more than 2,100 pregnant women. The table shows values for aneuploid samples in patients across four clinical studies, and accuracy for fetal sex within an additional publication.

22q Microdeletion screening

1. Dungan, J. S., Klugman, S., Darilek, S., et al (2022). Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. https://doi.org/10.1016/j.gim.2022.11.004
2. McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A., et al. (2015). 22q11.2 deletion syndrome. Nat. Rev. Dis. Prim. 1, 15071. doi:10.1038/nrdp.2015.71

3. Soster E, Dyr B, Rafalko J, Almasri E, Cacheris P. Positive cfDNA screening results for 22q11.2 deletion syndrome-Clinical and laboratory considerations. Front Genet. 2023;14:1146669. Published 2023 Mar 10. doi:10.3389/fgene.2023.1146669

4. Natera website, https://www.natera.com/womens-health/panorama-nipt-prenatal-screening/. Accessed 26 June 2025

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• 22q (DiGeorge syndrome) is associated with between 1 in 3,000-6,000 live births²
• 22q screening performance with MaterniT 21 PLUS has a higher PPV (>97.4%³) than other cfDNA screening tests

HealthLink Test Orders

• Primary option is the core NIPT (13,18,21) and 22q deletion
• Test code MCT22Q
• A customizable order will be available in healthlink, but will not be put on provider preference lists. Customizable order will allow for the majority of NIPT test options at Labcorp.
• Test code MTCORE

What is available in HealthLink?�

The orange box is the standard order in HealthLink

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Those outlined in red are ordered using the “custom” order. The answers to the questions in the order drives which of these tests is performed.

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If the patient would like to pursue GENOME, it is recommended they be referred to Meriter for pre-test genetic counseling.

Standard Order – Test code MCT22Q

Information pulled from the chart. Necessary for testing.

We are attempting to add this order to OB order sets. Otherwise, it should show up on your preference lists if you search for it after 2/23/26.*

*If it does not show up on an order set that you would like it to be on and/or show up in your preference list when you search for it, please let Alex Cummings know (secure chat, email, teams or 608-265-0245).

Add-ons

• Enhanced Sequencing Series (ESS) – additional microdeletions, as well as trisomies 22 and 16
• Sex Chromosome Analysis (SCA) – analysis for sex chromosome anomalies like Turner (monosomy X) and Klinefelter (XXY)
• These tests have higher false positive rates / lower PPV.
• ESS is typically not covered by insurance, which means patients are more likely to receive a bill if it is included.

“Custom” Order – Test code MTCORE

This order is not present on order sets or provider preference lists. You will need to search orders for MTCORE and go into the database tab in the upper right to find this order in HealthLink.

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Answers to the questions will drive which test is ordered from Labcorp.

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This order is somewhat intentionally buried, as it should only really be used when:

1. Patients are asking for the additional test options.
2. Providers are comfortable counseling about the limitations of these additional test options.

“Custom” Order Question Flowchart

General Information

• Billing will be handled by Labcorp – most patients will not receive a bill, but if they do it will be from labcorp. Financial assistance program is easily accessible.
• Results will file directly into the patient’s chart and Mychart, unless manual release is selected at the time of order.
• Turnaround time is typically 5-7 days.

Patient Engagement Program�

• Patient Engagement Program – Labcorp works directly with your patients to make pricing options transparent and our services accessible
• Online cost estimator – for reproductive genetic testing, patients can obtain online cost estimates within minutes, while the Patient Engagement Program team offers support to help patients understand their best options. Send your patients to https://womenshealth.labcorp.com/patients/cost-estimator or call 844-799-3243
• Patient hand-outs with this information will be shipped to all clinic locations where testing could potentially be ordered. Please contact Ryan Swigart (ryan.swigart@labcorp.com) if you need more.

Billing Overview

• It is recommended that all patients be encouraged to call the Patient Engagement Program prior to or during testing (844-799-3243).
• Patients should be provided an estimate. If that estimate is >$299, they should ask to participate in the Moms Helpings Moms of Tomorrow initiative. This will cap their out-of-pocket responsibility at $299. If they do not make this call, their bill can be higher than $299.
• If you ever have a patient who makes this call and then is billed more than $299, please call Alex Cummings (608-265-0245).
• Patients who cannot afford the $299 should separately apply for Labcorp’s financial assistance program. They can do this by calling 877-821-7266.

GHC PATIENTS

• GHC requires pre-test genetic counseling for NIPT and requires all genetic testing, including NIPT, to be drawn at GHC labs.
• Please send an order for genetic counseling to GHC (fax: 608-661-7205).
• A GHC scheduler will contact the patient by mychart and/or phone to schedule a genetic counseling visit.
• The GHC genetic counselor will review the information about the NIPT test (GHC uses the Quest Qnatal Advanced test for NIPT) and also carrier screening options with the patient.
• The GHC genetic counselor will order the NIPT test and carrier screening for the patient if they desire it. The GHC genetic counselor will contact the patient with results. Contact Beth Duris, GHC genetic counselor, if you have questions about the GHC genetic testing process: bduris@ghcscw.com

Transition

1. Education to providers in OB/GYN and FM
• Alex Cummings (UW Health) – 608-265-0245, acummings2@uwhealth.org, secure chat, teams.
• Ryan Swigart (Labcorp) - ryan.swigart@labcorp.com
• Internal documents will be provided as well as handouts for patients at clinic locations.
2. Go-live of the orders scheduled for February 23^rd
3. Meriter will work with us throughout this process.
• Use a referral, not the old NIPT testing order in HealthLink, to refer for genetic counseling.
• Call the genetic counseling number 608-417-5888 if you are not sure whether you should refer a high-risk patient.

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Questions/Concerns?

Mosaicism ratio: Personalized NIPT insights

What is Mosaicism Ratio?

• A metric calculated in the event of a positive�NIPT result for trisomy 21, 18, or 13
• Requires two data points: 
• Affected fraction – the percentage of cell-free DNA that is impacted by aneuploidy
• Fetal fraction – the percentage of cell-free DNA contributed by the pregnancy

How is mosaicism ratio interpreted?

• Positive results are classified into one of three Mosaicism Ratio groups:

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Positive predictive value (PPV) by trisomy and Mosaicism Ratio group¹

1. Rafalko et al. Impact of Mosaicism Ratio on positive predictive value of cfDNA screening. Prenatal Diagnosis, 2020.

2. American College of Obstetricians and Gynecologists. Screening for Fetal Chromosomal Abnormalities. Practice bulletin no.n226. Obstet Gynecol. 2020;136(4):859-867

What are the potential causes of a low Mosaicism Ratio?

• It can be hard to identify the exact cause of a low Mosaicism Ratio, but it’s often linked to placental mosaicism, a prior co-twin loss, or other biological factors.

Summary

• Mosaicism Ratio allows clinicians to provide customized counseling for patients with positive results for trisomy 21, 18, and 13 in singleton pregnancies
• The lower the Mosaicism Ratio, the greater the chance�for a discordant result from diagnostic testing
• MaterniT 21 PLUS with Mosaicism Ratio identifies when�a positive result is more likely to be a true positive
• Regardless of Mosaicism Ratio, diagnostic testing and genetic counseling are recommended for all positive NIPT results according to ACOG, Practice Bulletin 2262

Prevalence of Chromosome Anomalies Screened

Sensitivity and Specificity for ESS

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• The validation study combined these metrics across all anomalies given the small n.
• Difficult to appreciate actual sensitivities and sensitivities given rarity.
• PPV inherently harder to calculate for rare disease, but estimated between 51-97% depending on the anomaly on their MaterniT Genome platform.

Additional Features of Labcorp’s Offering