Invasive prenatal diagnosis

Breast milk is the best possible nutrition for your baby. Close contact with your baby – skin-to-skin bonding – not just in the first few hours of life, is the first step towards successful breastfeeding.

At our clinic, we perform amniocentesis – the collection of a sample of amniotic fluid using a fine needle through the abdominal wall. The procedure is carried out after the 15th week of pregnancy and is performed on an outpatient basis, following a referral from a clinical geneticist. The main reasons for this are a positive first-trimester combined test or abnormal ultrasound findings in the foetus. In cases where there is a family history of certain genetic syndromes and defects (e.g. skeletal dysplasia), it is possible to rule out the condition in the foetus using special cytogenetic probes. Another indication may be the diagnosis of certain types of infection in the foetus. Rapid cytogenetic analysis using PCR or FISH is used to rule out the most common types of chromosomal abnormalities (trisomy 21, 18, 13, X and Y) and takes 24–48 hours. During the subsequent standard cytogenetic analysis, which takes 2–3 weeks, all chromosomes are counted and examined. The test is thus able to rule out all types of chromosomal abnormalities with 100% reliability. The risk of pregnancy loss due to the procedure is around 0.5%. Miscarriage is usually caused by infectious complications and most commonly occurs during the first week following the procedure. In addition to the risk of miscarriage, there is a small risk (less than 1%) that the procedure or the analysis of the obtained material in the laboratory will fail, and the invasive procedure will need to be repeated.

The examination is fully covered by public health insurance. If it is appropriate for you to undergo cytogenetic analysis before the 15th week, we will refer you to a specialist centre for a chorionic villus sampling.