Definitive diagnosis
Amniocentesis analyses fetal cells directly from amniotic fluid, providing a >99% accurate diagnosis for chromosomal abnormalities and many genetic conditions.
Amniocentesis is a prenatal diagnostic procedure that involves removing a small sample of amniotic fluid from the sac surrounding your baby. The fluid contains fetal cells that can be analysed to diagnose chromosomal conditions (like Down syndrome, Edwards syndrome, and Patau syndrome), many genetic disorders, and neural tube defects (such as spina bifida). It is usually performed between 15 and 20 weeks of pregnancy.
Amniocentesis is offered when there is an increased risk of a genetic or chromosomal condition – for example, due to maternal age, abnormal screening results, a family history of genetic disorders, or an ultrasound finding suggestive of an anomaly. It can also be used to assess lung maturity in the third trimester, though this is less common.
At Amytri, amniocentesis is performed by an experienced consultant radiologist with specialised training in fetal medicine and interventional procedures. Using real‑time ultrasound guidance, we safely aspirate a small amount of amniotic fluid. The procedure is quick, and we take every precaution to minimise any risk. We provide thorough pre‑ and post‑procedure counselling, ensuring you understand the process, the risks, and the implications of the results.
Amniocentesis is the gold standard for prenatal diagnosis of chromosomal and genetic conditions, offering a low risk of miscarriage and the ability to test for neural tube defects.
Amniocentesis analyses fetal cells directly from amniotic fluid, providing a >99% accurate diagnosis for chromosomal abnormalities and many genetic conditions.
Amniocentesis carries a lower risk of miscarriage (about 0.1‑0.3%) compared to CVS (0.5‑1%), making it a preferred option for some women.
Unlike CVS, amniocentesis can measure alpha‑fetoprotein (AFP) levels in the fluid to screen for open neural tube defects like spina bifida and anencephaly.
Amniotic fluid contains fetal cells and biochemical markers that can be analysed using several advanced techniques.
Full chromosome analysis – detects trisomies 21, 18, 13, sex chromosome anomalies, and structural rearrangements. Results usually available within 10‑14 days.
Rapid testing for the most common trisomies (21, 18, 13) and sex chromosomes – results available in 24‑48 hours, giving you early preliminary information.
Detects submicroscopic deletions and duplications (copy number variants) that may not be visible on routine karyotyping – useful for identifying syndromes like DiGeorge and other microdeletion conditions.
Elevated AFP levels in amniotic fluid can indicate open neural tube defects (spina bifida, anencephaly) or abdominal wall defects (omphalocele, gastroschisis).
If you have a family history of a specific genetic condition (e.g., cystic fibrosis, spinal muscular atrophy, muscular dystrophy), we can test the amniotic fluid for that particular mutation.
In late pregnancy (usually after 32 weeks), amniocentesis can assess the lecithin/sphingomyelin (L/S) ratio to determine fetal lung maturity, guiding decisions about early delivery.
We meet with you to discuss the reasons for amniocentesis, the procedure, the risks, and the implications of potential results. We answer all your questions to ensure you can give informed consent.
We perform a detailed ultrasound to confirm the gestational age, check the position of the baby and the placenta, and identify a safe pocket of amniotic fluid for aspiration.
Under continuous ultrasound guidance, we pass a thin needle through the abdominal wall into the amniotic sac and aspirate about 15‑20 ml of fluid. The procedure takes about 10‑15 minutes and is usually well tolerated.
FISH results are usually available in 24‑48 hours; full karyotype in 10‑14 days. We call you with the results and arrange a follow‑up consultation to discuss them in detail.
Amniocentesis is a diagnostic test offered to women at increased risk of having a baby with a chromosomal, genetic, or neural tube condition.
Advanced maternal age increases the risk of trisomies. Amniocentesis can provide a definitive diagnosis in the second trimester.
If a screening test shows increased risk for a chromosomal condition, amniocentesis can confirm or rule out the diagnosis.
If you or your partner carry a gene for cystic fibrosis, thalassemia, muscular dystrophy, or other inherited disorders, amniocentesis can test for these conditions.
If an ultrasound reveals structural abnormalities (such as cardiac defects, brain anomalies, or markers like echogenic bowel), amniocentesis can help identify a genetic cause.
If you have had a previous affected pregnancy, amniocentesis can assess the risk in the current pregnancy.
If you have a family history of neural tube defects, or if serum screening shows elevated AFP, amniocentesis can measure AFP levels in the amniotic fluid to confirm or rule out an open neural tube defect.
Dr. Abhishek has extensive experience in performing amniocentesis and other prenatal diagnostic procedures. He uses real‑time ultrasound guidance to ensure the safety and accuracy of the procedure. He understands the emotional weight of this decision and provides clear, compassionate communication before, during, and after the procedure.
Amniocentesis can be an emotionally challenging experience – having your partner with you provides support and shared understanding.
We encourage partners to be present for the counselling session and the procedure. We explain what is happening at every step, and we create a calm, supportive environment. After the procedure, we monitor you for a short time and provide clear instructions for aftercare.
Amniocentesis is a prenatal diagnostic procedure that removes a small sample of amniotic fluid to analyse fetal cells. It provides a definitive diagnosis of chromosomal conditions, genetic disorders, and neural tube defects.
It is typically performed between 15 and 20 weeks of pregnancy. It can also be done later in pregnancy (after 32 weeks) to assess fetal lung maturity.
Amniocentesis is a safe procedure when performed by an experienced specialist, but it carries a small risk of miscarriage (about 0.1‑0.3%). We take every precaution to minimise this risk, and we discuss it with you in detail before you decide.
Amniocentesis is over 99% accurate in diagnosing chromosomal conditions. The AFP test for neural tube defects is also highly reliable.
Yes, typically a referral from your obstetrician is required. They will coordinate with us to ensure the procedure is performed at the optimal time.
We monitor you for about 30 minutes to ensure there is no bleeding or cramping. You will be given aftercare instructions – including rest, avoiding heavy lifting, and watching for signs of infection. Results are usually available in 10‑14 days, with FISH results in 24‑48 hours.
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