Definitive answers, not estimates
Unlike screening tests, diagnostic tests give you a clear, definitive result – removing the uncertainty and helping you plan for the future.
Prenatal genetic diagnosis encompasses a range of tests that provide definitive information about chromosomal and genetic conditions in the fetus. Unlike screening tests (which estimate risk), diagnostic tests give you a clear answer – helping you make informed decisions about your pregnancy, prepare for a child with special needs, or pursue medical interventions.
At Amytri, we offer a comprehensive prenatal genetic diagnosis service, including Chorionic Villus Sampling (CVS), amniocentesis, and advanced genetic testing such as chromosomal microarray and targeted mutation analysis. Our approach is multidisciplinary – we work closely with genetic counselors, obstetricians, and fetal medicine specialists to provide you with accurate results and compassionate support throughout the process.
Whether you have a family history of genetic conditions, abnormal screening results, or an ultrasound finding suggestive of an anomaly, our team is here to guide you through the diagnostic pathway – from pre‑test counseling to result interpretation and beyond.
Prenatal genetic diagnosis provides the clarity and certainty you need to make the best decisions for your family.
Unlike screening tests, diagnostic tests give you a clear, definitive result – removing the uncertainty and helping you plan for the future.
If a condition is identified, you can prepare emotionally, seek specialist care, and plan for delivery at a centre with the appropriate neonatal expertise.
Knowing the diagnosis allows you and your partner to make informed decisions about your pregnancy – whether that means continuing the pregnancy with extra support, preparing for palliative care, or considering termination.
We offer a range of diagnostic procedures, each with specific timing, indications, and applications.
Sampling of placental tissue at 11‑14 weeks. Provides early diagnosis of chromosomal and genetic conditions. Results in 7‑10 days (FISH in 24‑48 hours).
Sampling of amniotic fluid at 15‑20 weeks. Diagnoses chromosomal conditions, genetic disorders, and neural tube defects. Results in 10‑14 days (FISH in 24‑48 hours).
Fetal blood sampling from the umbilical cord after 18 weeks. Used for rapid diagnosis of anaemia, infections, and blood disorders. Also enables intrauterine transfusion.
Samples obtained through diagnostic procedures are analysed using advanced genetic techniques.
Full chromosome analysis – detects trisomies (21, 18, 13), sex chromosome anomalies (Turner, Klinefelter), and structural rearrangements (translocations, deletions). Results in 7‑14 days.
Rapid testing for the most common trisomies (21, 18, 13) and sex chromosomes. Results available in 24‑48 hours, providing early preliminary information while waiting for the full karyotype.
Detects submicroscopic deletions and duplications (copy number variants) that are too small to be seen on routine karyotyping. Identifies syndromes like DiGeorge, Williams, and others.
Testing for specific genetic conditions based on family history or ethnicity – including cystic fibrosis, spinal muscular atrophy, thalassemia, fragile X, and muscular dystrophies.
In selected cases where standard tests are negative but a genetic condition is strongly suspected, advanced sequencing can identify novel or rare genetic variants.
We test all samples to ensure they are fetal in origin – avoiding misdiagnosis due to maternal cells. This is standard practice for all CVS and amniocentesis samples.
We meet with you to discuss the reasons for diagnostic testing, the available procedures, the risks, and the implications of potential results. We answer all your questions to ensure you can give informed consent.
Depending on your gestational age and indication, we perform the appropriate diagnostic procedure under continuous ultrasound guidance to obtain a fetal sample.
The sample is sent to a specialised genetics laboratory for analysis – using karyotyping, FISH, CMA, or targeted testing as indicated. Results are available from 24 hours to 14 days.
We meet with you to discuss the results, their clinical significance, and the options available to you. We provide emotional support and coordinate with your obstetrician and other specialists to plan the next steps.
Diagnostic testing is offered to women at increased risk of having a baby with a genetic or chromosomal condition.
Advanced maternal age increases the risk of trisomies – diagnostic testing can provide a definitive answer.
If NIPT or combined screening shows increased risk, diagnostic testing can confirm or rule out the condition.
If you or your partner carry a gene for cystic fibrosis, thalassemia, muscular dystrophy, or other inherited disorders.
If an ultrasound reveals structural abnormalities or markers suggestive of a genetic condition.
If you have had a previous pregnancy affected by a chromosomal or genetic condition.
If either parent carries a balanced translocation, diagnostic testing can detect whether the baby has inherited an unbalanced form.
Dr. Abhishek has extensive experience in performing prenatal diagnostic procedures and interpreting genetic results. He works closely with genetic counselors, obstetricians, and laboratory specialists to ensure you receive the most accurate diagnosis and the most compassionate support.
Prenatal genetic diagnosis can be an emotionally challenging experience – having your partner with you provides support and shared understanding.
We encourage partners to be present for counseling sessions and, where appropriate, for the procedures. We explain what is happening at every step, and we create a calm, supportive environment. We also involve partners in the discussion of results, ensuring both of you understand the diagnosis and the options available.
Screening tests (like NIPT or combined screening) give a risk estimate – they tell you the likelihood of a condition. Diagnostic tests (like CVS or amniocentesis) give a definitive answer – they tell you with near‑100% accuracy whether the condition is present.
All diagnostic procedures carry a small risk of miscarriage – approximately 0.5‑1% for CVS and 0.1‑0.3% for amniocentesis. Cordocentesis carries a higher risk of around 1‑2%. We perform these procedures only when the benefits outweigh the risks, and we take every precaution to minimise complications.
The timing depends on the procedure: CVS is performed at 11‑14 weeks, amniocentesis at 15‑20 weeks, and cordocentesis after 18 weeks. Your obstetrician will recommend the most appropriate test based on your gestational age and indication.
FISH results are available in 24‑48 hours; full karyotype results take 7‑14 days; CMA results take 7‑10 days; targeted testing results vary (usually 1‑2 weeks). Cordocentesis results for blood counts are available in 24‑72 hours.
We will discuss the results with you in detail, explain the condition and its implications, and provide information about available options – including continuing the pregnancy with specialist support, planning for neonatal care, or considering termination. We support you through every decision and coordinate with your obstetrician and other specialists.
Yes, a referral from your obstetrician is required for diagnostic procedures. They will coordinate with us to ensure the procedure is performed at the optimal time and that the results are integrated into your overall care.
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