Landspitali - University Hospital
Prenatal diagnosis 22B
Table of contents
Screening and tests during pregnancy
Ultrasound scans and other tests are available during pregnancy to provide information about the baby's growth, development and health. These can help estimate the stage of pregnancy, monitor the baby's growth and development, and check for possible abnormalities.
Prenatal screening and diagnostic testing are optional. In a small number of cases, tests may identify serious abnormalities in the baby. Such findings can cause concern and may lead to difficult decisions. It is therefore important to consider beforehand whether the information these tests may provide is something the expectant parents wish to know. A midwife or doctor can provide information and advice to support informed decisions based on individual circumstances and preferences.
Ultrasound scans during pregnancy
Ultrasound scans are used to monitor the baby's growth and development, estimate the stage of pregnancy, and examine the baby's anatomy and organs. Scans are routinely offered at 12–14 weeks and 19–20 weeks of pregnancy. Additional scans may sometimes be needed.
Non-invasive prenatal testing (NIPT)
NIPT is a blood test that assesses the chance of certain chromosomal conditions in the baby, including Down's syndrome. It is a screening test, not a diagnostic test, and cannot confirm a chromosomal condition.
Prenatal diagnosis – chorionic villus sampling (CVS) and amniocentesis
Prenatal diagnostic testing may be offered when there is a reason to investigate whether the baby has certain chromosomal abnormalities or genetic conditions. A sample is taken from the placenta or amniotic fluid to analyse the baby's genetic material.
Results and further testing
Most screening tests and examinations do not identify any abnormalities. If results indicate that further testing may be needed, information and advice are provided about the next steps.
No test can detect all abnormalities in a baby, and normal results do not guarantee that the baby will be born without health problems.
Genetic counselling during pregnancy
Genetic counselling is available if there is a known genetic condition in the family or if tests during pregnancy suggest a possible abnormality in the baby. Counselling includes discussing which tests may be appropriate and what their results can and cannot tell us.