Amniocentesis is a prenatal diagnostic procedure in which a small amount of amniotic fluid surrounding the developing baby is collected for laboratory examination.
The fluid contains fetal cells and other substances that can be analysed to investigate certain chromosomal and genetic conditions.
Amniocentesis may be recommended when prenatal screening results, ultrasound findings or family history indicate a need for further diagnostic testing.
The procedure is performed under continuous ultrasound guidance to help select a suitable sampling location and monitor the baby's position.
Amniocentesis is generally performed from 16 weeks of pregnancy, with the exact timing determined by the clinical indication.
During the procedure, a thin needle is passed through the mother's abdomen into the amniotic sac to collect a small fluid sample. The sample is then sent for the appropriate laboratory tests.
As an invasive procedure, amniocentesis carries a small risk of complications, including miscarriage. Before testing, the doctor will discuss the expected benefits, limitations, alternatives and potential risks.
What Can Amniocentesis Help Diagnose?
The collected amniotic fluid can be analysed using laboratory tests selected according to the reason for the procedure.
Chromosomal Conditions
Helps diagnose certain chromosome abnormalities, including conditions such as Down syndrome.
Inherited Genetic Disorders
Can support targeted testing for specific inherited conditions when a known genetic risk exists.
Further Investigation of Scan Findings
Provides a diagnostic sample when ultrasound findings suggest a possible genetic or chromosomal condition.
Specialized Laboratory Tests
May allow additional tests for selected fetal conditions or infections when clinically indicated.
Key Benefits
Chromosomal Diagnosis
Helps diagnose certain chromosomal conditions, including Down syndrome, through laboratory analysis of amniotic fluid.
Genetic Disorder Testing
Allows targeted testing for specific inherited genetic disorders when family history or screening findings indicate a potential risk.
Clarification of Screening Results
Provides diagnostic information when prenatal screening or ultrasound findings suggest an increased likelihood of certain conditions.
Ultrasound-Guided Sampling
Ultrasound guidance helps identify a suitable sampling location and monitor the baby's position during the procedure.
Specialized Diagnostic Testing
The collected sample may support additional laboratory investigations, including selected fetal infections, when clinically indicated.
Informed Pregnancy Planning
Results can support genetic counselling, specialist consultations and decisions about appropriate follow-up and pregnancy care.
Need Expert Consultation?
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