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, 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 NIPT is a screening that can be done as early as at 10 weeks of gestation.


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 cases3

Conditions Screened for

  • All autosomal chromosomal abnormalities including trisomies 13, 18, 21
  • All sex chromosomal abnormalities

*This test does not reveal 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

Test specification

Technique Variant types TAT Sample requirements
NGS CNVs 2 weeks 10 ml Maternal Blood in streck tube


  1. 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.
  2. 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).
  3. 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
  4. 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


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.

What should I do if the NIPT results indicate a higher risk for chromosomal abnormalities?

Are there any risks associated with NIPT?