PREGNANCY AMNIOCENTESIS ULTRASOUND SCAN
Also Known As
Lab Test
₹10500
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About The Test
- Purpose: Detect chromosomal or genetic conditions early in pregnancy.
- Timing: Performed between weeks 15–20 of gestation.
- Accuracy: Over 99 % accurate for Down syndrome and other major trisomies.
- Guidance: Real-time ultrasound ensures needle placement is precise and fetal safety is maximised.
What is Pregnancy Amniocentesis Ultrasound Scan?
This dual-procedure combines:
- Ultrasound Scan – visualises baby, placenta, and amniotic sac.
- Amniocentesis – withdraws 15–20 ml of amniotic fluid for lab testing.
How Ultrasound Guides the Amniocentesis
- Continuous real-time imaging helps the radiologist avoid the fetus, umbilical cord, and major blood vessels.
- Determines the ideal puncture site on the maternal abdomen.
Difference Between Diagnostic and Screening Tests
- Screening (e.g., NIPT, first-trimester combined test) estimates risk.
- Diagnostic – amniocentesis gives a definitive result for specific chromosomal or genetic disorders.
Role of Genetic Amniotic Fluid Analysis
- Cultured fetal cells undergo karyotyping, microarray, or targeted DNA tests.
- Detects Down syndrome, Edwards syndrome, Patau syndrome, and hundreds of single-gene disorders.
Types of Pregnancy Amniocentesis Ultrasound Scan
- Genetic Amniocentesis – chromosomal or micro-array analysis.
- Lung Maturity Amniocentesis – measures phosphatidylglycerol or L/S ratio after 32 weeks.
- Fetal Infection Testing – PCR for CMV, toxoplasmosis, parvovirus.
List of Parameters
- Fetal position & heart rate
- Placenta localisation
- Amniotic fluid volume (AFI)
- Umbilical cord insertion site
- Maternal vessels to avoid
Why This Test
- Confirm Down syndrome (Trisomy 21)
- Diagnose neural tube defects (spina bifida, anencephaly) via AFP & AChE
- Assess fetal lung maturity before early delivery
- Detect inherited metabolic disorders (Tay-Sachs, Gaucher)
When to Take Test
Indication | Details |
---|---|
Gestational Age | 15–20 weeks is ideal for genetic testing. |
Maternal Age ≥35 | Higher risk of aneuploidy. |
Abnormal Screening | Positive combined test, NIPT, or previous ultrasound soft markers. |
Family History | Known genetic conditions, parental balanced translocations. |
Previous Pregnancy | Earlier child with chromosomal anomaly. |
Benefits
Benefits of Taking the Pregnancy Amniocentesis Ultrasound Scan
- 99 %+ accuracy for major chromosomal anomalies.
- Enables early intervention planning (prenatal surgery, delivery at tertiary centre).
- Supports informed decision-making (continue pregnancy, prepare for special care, or consider options).
Illnesses Diagnosed with Pregnancy Amniocentesis Ultrasound Scan
Condition | Chromosome / Gene Involved |
---|---|
Down syndrome | Trisomy 21 |
Edwards syndrome | Trisomy 18 |
Patau syndrome | Trisomy 13 |
Spina bifida | Neural tube defect (multifactorial) |
Tay-Sachs disease | HEXA gene mutation |
Preparing for test
- Drink 2 glasses of water 1 hour before scan (full bladder improves visualisation).
- Bring previous ultrasound & blood test reports.
- No fasting required.
- Wear loose, two-piece clothing for easy abdomen access.
Pre-requisites for the Scan
- Valid obstetrician referral.
- Signed informed consent form.
- Rh-negative mothers: inform team to arrange Anti-D immunoglobulin within 72 hours post-procedure.
Best Time to Take the Pregnancy Amniocentesis Ultrasound Scan
Test Type | Optimal Gestation |
---|---|
Genetic | 15–20 weeks |
Lung Maturity | ≥32 weeks |
Infection | Any trimester as clinically indicated |
Eligibility
You are eligible if you meet any of the following:
- Maternal age ≥35 years at delivery.
- Positive NIPT or first-trimester screening.
- Previous child with chromosomal anomaly.
- Parental balanced chromosomal rearrangement.
- Abnormal ultrasound finding (e.g., cystic hygroma, absent nasal bone).
Procedure for Taking a Pregnancy Amniocentesis Ultrasound Scan
Step | Action |
---|---|
1 | Ultrasound mapping – locate placenta, fetus, and optimal fluid pocket. |
2 | Sterilise skin with antiseptic; inject local anaesthetic if requested. |
3 | Insert 22-gauge spinal needle under continuous ultrasound guidance. |
4 | Withdraw 20 ml amniotic fluid in 2–3 syringes. |
5 | Monitor fetal heartbeat; observe mother for 30 minutes before discharge. |
Caution Before Taking the Test
- Avoid procedure if active vaginal infection or chorioamnionitis.
- Disclose bleeding disorders or anticoagulant use.
- Inform team early about twin or higher-order pregnancy for special technique.
Test Results
Results and Interpretations
Stage / Result | Timeline | Next Steps |
---|---|---|
Preliminary FISH results | ~48 hours | Screening for common trisomies. |
Final karyotype / micro-array | 10–14 days | Comprehensive genetic analysis. |
Normal result | After results | Reassurance; continue routine antenatal care. |
Abnormal result | After results | Detailed counselling with fetal medicine specialist and geneticist; discuss options. |
Risks & Limitations
- Miscarriage risk: <0.5 % when performed by experienced hands.
- Minor side effects: Cramping, spotting, or leakage of amniotic fluid (usually self-limiting).
- Infection: Rare (<1 in 1,000).
- Limitations: Cannot detect all genetic disorders or structural anomalies.
FAQs
Is the pregnancy amniocentesis ultrasound scan painful?
Most women feel mild pressure; local anaesthetic minimises discomfort.
Can I travel after the test?
Light travel is fine; avoid strenuous activity for 24 hours.
When will I get results?
Preliminary results in 2–3 days, final report within 2 weeks.
What if I am Rh-negative?
You’ll receive Anti-D immunoglobulin within 72 hours to prevent Rh sensitisation.
Does Cadabams Diagnostics offer genetic counselling?
Yes, our certified genetic counsellors guide you from consent to post-result planning.