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Amniocentesis

Gold standard invasive diagnostic method for fetal chromosome and genetic analysis.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kadın Hastalıkları ve Doğum department. Book Appointment →

What is Amniocentesis?

Amniocentesis is the procedure of obtaining 15-20 mL of amniotic fluid from the maternal abdomen using a thin needle. Chromosomal analysis (karyotype), FISH, microarray, and specific genetic tests can be performed on the fetal cells in the fluid.

It is most commonly performed between 16-20 weeks. During this period, the fluid amount is sufficient and the risk of pregnancy loss is around 0.1-0.3%. Amniocentesis performed earlier (before 14 weeks) is high risk.

Amniocentesis is recommended for pregnancies with high-risk results from screening tests and for couples with a family history of chromosomal disease. Results are obtained in 2-3 weeks (karyotype) or 48-72 hours (FISH).

Symptoms

High risk on NIPT or combined test
Detection of structural anomaly on ultrasound
Family history of inherited disease (Mediterranean anemia, cystic fibrosis)
Chromosomal abnormality in previous pregnancy
Advanced maternal age (≥35) optional
Rh isoimmunization follow-up

Risk Factors

Risk of pregnancy loss (0.1-0.3%)
Amniotic fluid leakage
Chorioamnionitis (infection)
Risk of maternal Rh immunization (prevented with RhIG)
Fetal injury (rare)
Preterm labor

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • When NIPT or quadruple test shows high risk
  • When structural anomaly is detected on ultrasound
  • If there is a known family history of genetic disease
  • If there is chromosomal abnormality in previous pregnancy
  • When prenatal diagnosis is desired

Treatment Methods

01
Amniotic fluid sampling under ultrasound guidance in sterile conditions
02
Karyotype analysis (classical, 2-3 weeks)
03
QF-PCR or FISH (48-72 hours, common trisomies)
04
Microarray for submicroscopic anomalies
05
Specific gene analyses (thalassemia, SMA, etc.)
06
Anti-D immunoglobulin administration in Rh-negative pregnancy

Which Department to Visit?

You can visit our Kadın Hastalıkları ve Doğum department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Kadın Hastalıkları ve Doğum Department

Let us help you

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.