BabyMap - NIPT
As of October 2020:The American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) endorse NIPT as having the highest detection rate and lowest false positive rate for the common aneuploidies regardless of maternal age or baseline risk, of all screening options. 1
Non Invasive prenatal screening (NIPS), is the first-line screening test globally recommended for detecting common chromosomal abnormalities & microdeletions in fetus from the cell-free DNA present in the maternal blood sample, passed from placenta. On an average ~10% of the circulating cell free DNA is found in the maternal blood.2 NIPS is a screening that can be done as early as at 10 weeks of gestation.
Why NIPT?
NIPT analyzes fetal chromosomal abnormalities using cell-free DNA in the mother's blood, eliminating the need for previously used invasive techniques such as Chorionic Villus sampling or amniocentesis, which carry a high risk of miscarriage.
With its non-invasive nature, NIPT provides a solution and reports chromosomal abnormalities with high sensitivity. It is important to note that NIPT is a screening test and cannot provide a final diagnosis based solely on its results. Nevertheless, NIPT demonstrates great sensitivity in detecting Down syndrome, capturing over 99% of cases.3
Conditions Screened for
Conditions Screened for
| NIPT Basic | NIPT Advacnced |
|---|---|
| Common chromosomal aneuploidies (Trisomy 13, Trisomy 18, Trisomy 21) | Sex chromosomal aneuploidies (Monosomy XO, XXY Syndrome, XYY Syndrome. XXX Syndrome) |
| Common chromosomal aneuploidies (Trisomy 13, Trisomy 18, Trisomy 21) | Sex chromosomal aneuploidies (Monosomy XO, XXY Syndrome, XYY Syndrome. XXX Syndrome) |
| All chromosome aneuploidies | Common Microdeletion / Microduplications |
Clinical utility
- Screening for chromosomal abnormalities(<30)
- Reduced need for invasive procedures
- NIPT can be performed as early as 10 weeks of gestation, allowing for earlier detection of chromosomal abnormalities compared to traditional screening methods.
- Fetal fraction should be more than 4%
- Psychological and emotional benefits: NIPT results can alleviate anxiety and uncertainty for expectant parents by providing them with valuable information about their baby's health.
When is NIPT recommended
- Any pregnant woman
- Any soft marker/ ultrasound abnormalities such as High NT or absent nasal bone
- Any Abnormal biochemical marker results(Double/ triple/ quadruple)
- History of a prior pregnancy with a trisomy
MapmyGenome’s offerings
- Identify risk for chromosomal abnormalities - trisomy 13, 18, 21 and X-Linked Anomalies and microdeletions
- Early intervention of child’s genetic health - as early as from 10th week of gestation
- Non-invasive, safe and accurate - this technique allows for a broad implementation of first-trimester prenatal screening.
- Reduced invasive tests by 94.8% & decreased procedure-related miscarriages by 90.8%
- High detection rate & Low failure rate
- >99% sensitivity and specificity
*This test does not reveal sex of the fetus in accordance with PCPNDT guidelines
Test specification
| Technique | Coverage | Variant types | TAT | Sample requirements |
|---|---|---|---|---|
| NGS | NA | CNVs | 2 weeks | 4-5 ml Maternal Blood in streck tube |
References
- American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Am J Obstet Gynecol. 2020 Oct;136(4):e48-e69.
- Hou, Y., Yang, J., Qi, Y. et al. Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening. Hum Genomics 13, 62 (2019).
- Smith, Meagan et al. “A Case of False Negative NIPT for Down Syndrome-Lessons Learned.” Case reports in genetics vol. 2014 (2014): 823504. doi:10.1155/2014/823504
FAQs
How is NIPT different from other prenatal screening tests?
Unlike traditional screening tests, such as maternal serum screening, NIPT offers higher accuracy and reliability in detecting chromosomal abnormalities. It is a non-invasive procedure that carries no risk of miscarriage.