3billion
G-NIPT® Basic
Screening for trisomy 21, 18, and 13; sex chromosome aneuploidies; fetal sex confirmation; and other autosomal trisomies.
Specimen: Streck cfDNA tube
TAT: 10–12 days
Clinical Area · NIPT & Prenatal
Non-invasive prenatal screening from maternal blood
NIPT analyses cell-free fetal DNA circulating in maternal blood from as early as 10 weeks of gestation. It is a screening test — not diagnostic — and results should be interpreted by the ordering clinician in the context of the pregnancy.
NIPT is a screening test and does not replace diagnostic testing such as amniocentesis or CVS. A positive or high-risk result requires confirmatory diagnostic evaluation before clinical decisions are made.
What NIPT screens for
Core trisomy screening
Trisomy 21 (Down syndrome), trisomy 18 (Edwards), and trisomy 13 (Patau) — the three most clinically significant autosomal trisomies.
Sex chromosome aneuploidies
Conditions such as Turner syndrome (45,X), Klinefelter syndrome (47,XXY), and other sex chromosome variations.
Fetal sex determination
Available as part of most NIPT panels. Useful for X-linked disease risk assessment or parental information.
Expanded coverage
Premium panels cover additional autosomal trisomies, selected CNVs, and microdeletion/microduplication syndromes.
Pathogen screening
Selected panels include a focused maternal pathogen screen alongside chromosomal analysis.
Available panels
NIPT options through Advanced Consensus
Multiple NIPT panel options are available from 3billion and GC Genome, differing in chromosomal coverage and sample requirements. The ordering physician selects the appropriate panel for the clinical indication.
3billion
G-NIPT® Lite
Core non-invasive prenatal screening for trisomy 21, 18, and 13, sex chromosome aneuploidies, and fetal sex confirmation.
Specimen: Streck cfDNA tube
TAT: 10–12 days
3billion
G-NIPT® Premium
Expanded NIPT screening covering all autosomes, sex chromosome aneuploidies, fetal sex, selected CNVs, and CNVs larger than 7 Mb.
Specimen: Streck cfDNA tube
TAT: 10–12 days
GC Genome
i-screen®
Non-invasive prenatal screening option performed from maternal EDTA whole blood.
Specimen: EDTA whole blood
TAT: 10–12 days
GC Genome
NICE® Premium + Pathogen
Expanded NIPT screening with all autosomes, sex chromosome aneuploidies, 143 microdeletions, fetal sex, and a focused pathogen panel.
Specimen: Streck cfDNA tube
TAT: 10–12 days
Clinical limitations
What NIPT does and does not detect
Understanding the scope and limitations of NIPT is essential for appropriate pre-test counselling and post-result management.
Screening, not diagnostic
NIPT is a screening test. A high-risk result requires confirmatory diagnostic testing — such as amniocentesis or chorionic villus sampling (CVS) — before clinical management decisions are made. A low-risk result does not guarantee an unaffected pregnancy.
Coverage is panel-dependent
Different NIPT panels vary in the chromosomal conditions and microdeletion syndromes they screen for. Conditions outside the panel scope are not evaluated. Review the panel's specific coverage with the ordering clinician before selection.
Low fetal fraction may cause test failure
If the proportion of cell-free fetal DNA in the maternal sample is below the laboratory's threshold, the test may not return a reportable result and a repeat sample may be required. Low fetal fraction is more common at earlier gestational ages and in certain maternal conditions.
Confined placental mosaicism
NIPT analyses cell-free DNA predominantly of placental origin. Confined placental mosaicism — where chromosomal changes are present in the placenta but not the fetus — can produce a discordant result. This is one reason a positive NIPT result requires diagnostic confirmation.
Maternal conditions
Maternal chromosomal variations, active malignancy, or prior organ transplant can affect cfDNA profiles and influence NIPT results. Disclose relevant maternal history when ordering.
NIPT & prenatal · clinical detail
Acceptance, limitations & reporting
General guidance to support ordering decisions. Specific thresholds, specimen requirements, and assay availability are confirmed per case with the reference laboratory before testing.
Sample acceptance criteria
- Maternal peripheral blood collected from 10+0 weeks gestation onward, in a Streck BCT tube (10 mL), shipped within the stability window.
- Singleton or twin status and relevant clinical details provided; pre-test counseling and consent appropriate to screening.
Assay limitations
- NIPT is a screening test, not a diagnostic test; high-risk or positive results require confirmatory diagnostic testing (e.g., chorionic villus sampling or amniocentesis).
- Low fetal fraction can cause test failure or reduced accuracy and may require a redraw.
- Confined placental mosaicism, a vanishing twin, and certain maternal conditions can cause discordant results; coverage is panel-dependent.
What's reportable
- Risk classification for the conditions covered by the selected panel (e.g., common autosomal trisomies; sex-chromosome aneuploidies and selected CNVs where included).
- Fetal fraction and test-performance notes; fetal sex where requested and clinically appropriate.
- A recommendation for confirmatory diagnostic testing when results are high-risk.
Results are screening risk estimates and do not establish or exclude a diagnosis on their own.
NIPT · common questions
NIPT — questions clinicians ask
From what gestational age can NIPT be performed?
NIPT can be performed from 10+0 weeks of gestation onward, once sufficient cell-free fetal DNA is present in the maternal circulation. Testing earlier increases the chance of a low fetal fraction and an inconclusive result.
Is a high-risk NIPT result a diagnosis?
No. NIPT is a screening test, not a diagnostic test. Every high-risk or positive result must be confirmed with diagnostic testing — chorionic villus sampling or amniocentesis — before any irreversible clinical decision is made. A low-risk result reduces but does not eliminate the possibility of an affected pregnancy.
What does NIPT screen for, and what does it miss?
Standard panels screen for trisomy 21, 18, and 13, and usually sex-chromosome aneuploidies; expanded panels add selected microdeletions and additional trisomies. NIPT does not reliably detect structural rearrangements, single-gene disorders, or neural tube defects, and does not assess fetal anatomy. Coverage is panel-dependent, so confirm the specific panel scope before ordering.
What happens if the fetal fraction is too low?
If the proportion of fetal cell-free DNA is below the laboratory threshold, the test may fail or return an inconclusive result. Low fetal fraction is more common at earlier gestational ages and with higher maternal BMI. Options include a redraw at a later gestation or proceeding directly to diagnostic testing where timing is critical.
How long does NIPT take?
Typical turnaround is around 7 days from receipt of the maternal sample at the reference laboratory, though this varies with panel type and whether a redraw is required.
NIPT & prenatal
Order NIPT for your patient
For obstetricians, gynecologists, and maternal-fetal medicine specialists. Share the gestational age, clinical indication, and any prior screening results.
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