PREGNANCY AMNIOCENTESIS ULTRASOUND SCAN

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PREGNANCY AMNIOCENTESIS ULTRASOUND SCAN Image

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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:

  1. Ultrasound Scan – visualises baby, placenta, and amniotic sac.
  2. 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

  1. Genetic Amniocentesis – chromosomal or micro-array analysis.
  2. Lung Maturity Amniocentesis – measures phosphatidylglycerol or L/S ratio after 32 weeks.
  3. 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 / ResultTimelineNext Steps
Preliminary FISH results~48 hoursScreening for common trisomies.
Final karyotype / micro-array10–14 daysComprehensive genetic analysis.
Normal resultAfter resultsReassurance; continue routine antenatal care.
Abnormal resultAfter resultsDetailed 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.

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