NIPT (Non Invasive Prenatal Testing)
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Rs. 15,000.00 - Regular price
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Non-invasive prenatal screening (NIPS or NIPT), is the first-line screening test globally recommended for detecting common chromosomal abnormalities & microdeletions in fetuses from the cell-free DNA present in the maternal blood sample, passed from the placenta. On average ~10% of the circulating cell-free DNA is found in the maternal blood.2 NIPT is a screening that can be done as early as at 10 weeks of gestation.
[Form-G Mandatory for this test. Form G and Test requisition form by clicking on download sample reports below]
Understanding Non Invasive Prenatal Testing
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 carries 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 cases3
Conditions screened for
- All autosomal chromosomal abnormalities including trisomies 13, 18, 21
- All sex chromosomal abnormalities
*This test does not reveal the sex of the fetus in accordance with PCPNDT guidelines
Clinical Utility
- NIPT can be performed as early as 10 weeks of gestation, allowing for earlier detection of chromosomal abnormalities compared to traditional screening methods.
- NIPT results can reduce anxiety and uncertainty for expectant parents by providing them with valuable information about their baby's health.
- Reduced invasive tests by 94.8% & decrease in procedure-related miscarriages by 90.8% 4
When is NIPT recommended
- NIPT is generally recommended to all pregnant woman
- If any soft marker tests (double, triple & quadruple marker) suggest for chromosomal abnormalities
- If ultrasound High NT or absent nasal bone suggests for chromosomal abnormalities
- History of a prior pregnancy with a trisomy
MapmyGenome’s Offerings
- Identify risk for all chromosomal abnormalities including trisomy 13, 18, 21 and sex chromosomal aneuploidies.
- Non-invasive, safe and accurate
- High detection rate & Low failure rate
- >99% sensitivity and specificity
Benefits
1. Analyzes fetal chromosomal abnormalities using cell-free DNA in the mother's blood, eliminating the need for invasive techniques which carry a high risk of miscarriage.
2. NIPT chromosomal abnormalities, microdeletions and microduplications with high sensitivity.
3. NIPT can be performed as early as 10 weeks of gestation, allowing for earlier detection of abnormalities compared to traditional screening methods.
4. NIPT results can alleviate anxiety and uncertainty for expectant parents by providing them with valuable information about their baby's health.
Test Specification
| Technique | NGS |
| Variant Types | CNVs |
| TAT | 2 Weeks |
| Sample Requirements | 10 ml maternal blood in streck tube |
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
References
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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.
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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).
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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
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Kostenko, Emilia et al. “Clinical and Economic Impact of Adopting Noninvasive Prenatal Testing as a Primary Screening Method for Fetal Aneuploidies in the General Pregnancy Population.” Fetal diagnosis and therapy vol. 45,6 (2019): 413-423. doi:10.1159/000491750
What is Non Invasive Prenatal Testing?
Non invasive prenatal testing (NIPT) is a cutting-edge screening method used during pregnancy to detect certain genetic abnormalities in the fetus. Unlike invasive procedures, NIPT only requires a simple blood sample from the mother, which analyzes fragments of fetal DNA circulating in her bloodstream. This approach provides valuable information about conditions such as Down syndrome, trisomy 18, and trisomy 13, with high accuracy and minimal risk. Because it is safe and painless, non invasive prenatal testing is becoming the preferred choice among expecting parents and healthcare providers.
Benefits of Non Invasive Prenatal Testing
The main advantage of non invasive prenatal testing lies in its safety and reliability. Unlike traditional diagnostic tests like amniocentesis, NIPT poses no risk of miscarriage. It also delivers early results, often as early as 10 weeks into pregnancy, allowing parents to make informed decisions sooner. Additionally, this method provides high detection rates with low false positives, reducing the need for follow-up invasive testing. As a result, NIPT enhances prenatal care by combining convenience, accuracy, and peace of mind.
Who Should Consider Non Invasive Prenatal Testing?
Non invasive prenatal testing is recommended for all pregnant women, but particularly those with higher-risk factors such as advanced maternal age, family history of genetic conditions, or abnormal ultrasound findings. Many healthcare providers now offer NIPT as part of routine prenatal screening due to its effectiveness. While it is a screening—not diagnostic—test, NIPT helps guide further diagnostic steps if needed. Consulting with a healthcare professional can help expectant mothers understand if non invasive prenatal testing fits their pregnancy care plan, ensuring the best possible outcomes.
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2 Weeks