Amniocentesis Results and What They Mean
Once the amniotic fluid has been analysed, results are shared within 7 to 14 days, depending on the type of testing requested. Here is a list of Amniocentesis Results and What They Mean.
What the Results Can Show
- Chromosomal Abnormalities
- Down syndrome (trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Turner syndrome and other sex chromosome anomalies
- Genetic Disorders
- Cystic fibrosis
- Tay-Sachs disease
- Sickle cell anaemia
- Muscular dystrophy
- Neural Tube Defects
- Spina bifida
- Anencephaly
- Infections and Rh Disease
- Certain infections affecting the fetus (e.g. CMV)
- Severity of Rh incompatibility
- Fetal Sex
- This can be determined with near 100% accuracy if needed for medical reasons or personal preference.
Interpreting the Results
Your doctor or genetic counsellor will help interpret what the results mean:
- Normal results indicate the baby does not have the conditions tested for — but no test can rule out all abnormalities.
- Abnormal results may confirm a diagnosis, prompting further decisions about care, preparation, or — in some cases — pregnancy termination.
Emotional Impact
Receiving test results can be emotionally overwhelming. Many parents experience anxiety, relief, or grief depending on the outcome. Support from counsellors, religious advisors, or mental health professionals is often essential.
In South Africa, genetic counselling is becoming more widely available through academic hospitals and private providers to help families navigate decisions after testing.
Amniocentesis provides clarity — but it’s just one part of the broader journey of pregnancy care and planning.
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Dr Beigi Reconstructive surgeon Norwich
Reasons and Indications for Amniocentesis
