Begin with the final laboratory report. Understand what was found, the condition involved, the chance that the result reflects the pregnancy, and which questions to ask before making medical decisions.
The portal notification or telephone message may leave out information needed to interpret the finding. Request the complete final report before comparing statistics or laboratories.
The meaning and appropriate follow-up differ for a low-risk, high-risk or no-call result.
This is not confirmation. The result’s PPV estimates how often results like yours are confirmed. PPV varies by condition, maternal age, prevalence and laboratory performance.
Understand the condition and odds →Low fetal fraction is common, but a test failure can be associated with an increased chance of aneuploidy. Gestational age, weight, medications, twins and sample factors may contribute.
See ACOG guidance →A low-risk result does not eliminate every chromosome or genetic condition. Continue routine prenatal care and the recommended anatomic ultrasound.
Understand NPV →ACOG guidance: a positive cfDNA result should be followed by genetic counseling, a detailed anatomic survey and a recommendation for diagnostic testing with CVS or amniocentesis.
The appropriate diagnostic specimen can depend on the condition and concern for placental mosaicism. Discuss that distinction with maternal-fetal medicine or a genetic counselor.
Once the final report, condition and approximate probability are understood, use this pathway with the clinical team.
Review the condition, laboratory-reported PPV or risk score, fetal fraction and report limitations with the ordering clinician or genetic counselor.
Ask for a referral to a genetic counselor or maternal-fetal medicine specialist. High-risk results should not be managed through an online portal alone.
Discuss ultrasound findings, twins or vanishing twin, IVF or donor egg, transplant, transfusion, maternal chromosome findings and other factors that may affect interpretation.
CVS is generally performed at 10–13 weeks; amniocentesis is generally performed from 15 weeks. Ask whether karyotype, FISH, microarray or targeted analysis is appropriate.
Review what is known, what remains uncertain, mosaicism, expected variability and available specialists and support resources.
These are approximate frequencies among newborns, not the probability that a specific NIPT result is truly positive. Individual probability requires the result, age or prior risk, and assay performance.
Extra chromosome 21. Features and support needs vary. The chance increases with maternal age.
Approximate newborn frequencyAssociated with serious growth, cardiac and organ differences. More common during pregnancy than among live births.
Approximate live-born frequencyAssociated with significant brain, heart and other developmental differences.
Approximate newborn frequencyOccurs in female newborns; may affect growth, heart, kidneys and ovarian function. Mosaic forms vary.
Approximate female-newborn frequencyOccurs in male newborns; effects can be subtle and many people are not diagnosed until later.
Approximate male-newborn frequencyEach occurs in about 1 in 1,000 relevant-sex newborns. Developmental and clinical effects vary widely.
XXX: female newborns · XYY: male newbornsImportant: birth frequency is not PPV. PPV answers a different question: among people with this positive screen, how many are expected to have the condition confirmed?
Sensitivity and specificity describe assay performance. PPV and NPV answer what a positive or negative result is likely to mean for a patient.
| Condition | Sensitivity | Specificity | PPV age 20 | PPV age 25 | PPV age 35 | PPV age 40 |
|---|---|---|---|---|---|---|
| Trisomy 21 | 99.2% | 99.91% | 48% | 51% | 79% | 93% |
| Trisomy 18 | 96.3% | 99.87% | 14% | 15% | 39% | 69% |
| Trisomy 13 | 91.0% | 99.87% | 6% | 7% | 21% | 50% |
| 45,X | 90.3% | 99.77% | 32% | 32% | 32% | 32% |
| 47,XXX | 93.1% | 99.86% | 27% | 27% | 28% | 45% |
| 47,XXY | 93.0% | 99.86% | 29% | 29% | 30% | 52% |
| 47,XYY | 93.0% | 99.86% | 71% | 71% | 71% | 71% |
Illustrative values from SMFM Consult Series #74. They are not a personalized diagnosis. The performing laboratory, maternal age or other prior risk, ultrasound findings and pregnancy context can change the individualized estimate.
The best choice depends on timing, condition, ultrasound and the possibility that the placenta differs from the fetus.
Panel scope, methodology, fetal-fraction handling, pregnancy eligibility and reporting algorithms can change what is detected and how results are expressed.
| Example | General method | Potential distinction | Patient question |
|---|---|---|---|
| Natera Panorama | SNP-pattern analysis | Supported workflows may assess triploidy, zygosity and individual twin fetal fractions. | Is my pregnancy type eligible for this exact panel? |
| Labcorp MaterniT | Sequencing / chromosome counting | Focused and genome-wide menu options; scope depends on the ordered test. | Was MaterniT21 PLUS or MaterniT GENOME ordered? |
| BillionToOne UNITY | Targeted molecular counting | Deep analysis of selected loci; can pair aneuploidy and selected single-gene risk workflows. | Which targets were included and how is fetal fraction handled? |
| Quest QNatal | MPSS counting | Genome-wide fragment counting with defined reportable targets. | Which optional findings were ordered? |
| Myriad Prequel | Whole-genome sequencing | Uses fetal-fraction enrichment in its marketed workflow. | What was my reported fetal fraction and no-call policy? |
| Vanadis / rolling circle | Probe amplification and imaging | Focused, sequencing-free counting for common trisomies. | What conditions are outside the assay’s target set? |
Women who received a high-risk or abnormal NIPT result may ask about voluntary eligibility for the Labsy Women program. Participation, informed consent and compensation are discussed separately and never replace clinical follow-up.
No medical records, laboratory reports or sensitive health details should be submitted through this initial form.
Provide basic contact information only.