Genetic Testing & NIPT: Clarity Before Birth
Prenatal genetic screening has transformed the way families and clinicians approach pregnancy, enabling the detection of chromosomal and genetic conditions with a level of accuracy that was unimaginable a generation ago. At Fetocare, we offer a comprehensive range of non-invasive and diagnostic genetic testing options, guided by expert clinical counselling before and after every result. Our philosophy is straightforward: a test result on its own is not enough. What matters is ensuring that every family understands what their results mean, what their options are, and what support is available — whatever the outcome.
Non-Invasive Prenatal Testing (NIPT)
NIPT — also referred to as cell-free DNA screening — is the most advanced non-invasive screening test currently available for chromosomal abnormalities during pregnancy. From as early as ten weeks of gestation, a simple maternal blood sample is taken and analysed for fragments of fetal DNA that circulate in the mother's bloodstream. This DNA is examined for the chromosomal conditions most commonly associated with significant impact on health and development, including Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and sex chromosome abnormalities. Depending on the panel selected, NIPT can also screen for certain microdeletions — small missing sections of chromosomal material associated with conditions such as DiGeorge syndrome.
NIPT has a detection rate of over 99% for the common trisomies and a very low false-positive rate, making it considerably more accurate than first or second trimester serum screening alone. It is important to understand, however, that NIPT is a screening test, not a diagnostic one — a high-risk result requires confirmation through an invasive diagnostic procedure such as chorionic villus sampling or amniocentesis before any clinical decisions are made.
Double Marker and Quadruple Marker Tests
For families who prefer or require more traditional serum-based screening, we offer:
- Double Marker Test (10–14 weeks) — measures PAPP-A and free beta-hCG in maternal blood, combined with the NT scan measurement to produce an individualised risk assessment for trisomy 21 and trisomy 18. Most effective when performed alongside the NT scan as part of the first-trimester combined screening protocol.
- Quadruple Marker Test (15–20 weeks) — a second-trimester blood test measuring AFP, hCG, inhibin-A, and estriol. Primarily used to assess risk for Down syndrome, Edwards syndrome, and open neural tube defects such as spina bifida. Often recommended for women who were unable to access first-trimester screening.
Genetic Counselling: Before and After Every Test
At Fetocare, no genetic test is offered without a consultation to discuss the purpose of the test, the conditions it screens for, the limitations of the results, and the implications of both positive and negative findings. After results are available, every family receives a full explanation of what the numbers mean in practice, what options are available, and what the realistic next steps are. We believe that genetic information is best received in the context of a genuine clinical relationship, not as a printout handed over at the end of a brief appointment.
Whether you are considering NIPT for the first time, navigating a high-risk screening result, or seeking guidance on invasive diagnostic options, Dr. Shubham Gupta and the Fetocare team are here to provide the information, clarity, and support you need to make confident, informed decisions about your pregnancy.