A genetic consultation during pregnancy helps assess the risk of chromosomal and inherited diseases in the baby, understand prenatal test results and make informed decisions about further pregnancy care. At Baltic American Clinic, a clinical geneticist advises pregnant women when an increased risk of genetic changes is found, when prenatal test results are unclear or when a more detailed assessment of the baby’s health is needed.
Each situation is assessed individually, taking into account the stage of pregnancy, the family medical history and the results of ultrasound and laboratory tests. The doctor explains the possible risks, the choice of tests and what they mean, so that parents-to-be receive clear, reliable information and can make decisions with greater peace of mind.
Pregnancy test results, the family medical history and possible risk factors for genetic disease in the baby are assessed.
We help you understand the results of NIPT, biochemical screening and other prenatal tests, and how accurate they are.
Additional non-invasive and diagnostic genetic tests are discussed according to medical indications.
The doctor answers your questions in detail, discusses possible alternatives and helps you plan the next steps.
When is a genetic consultation recommended during pregnancy?
- Prenatal screening has shown an increased risk of chromosomal changes.
- The non-invasive prenatal test (NIPT) shows an increased likelihood of a genetic change or is inconclusive.
- An ultrasound scan has shown changes in the baby’s development or signs of a genetic disease.
- There are inherited diseases or chromosomal changes in the family.
- A genetic disease or a developmental anomaly in the baby was found in a previous pregnancy.
- One or both parents have a genetic change that could be passed on to the child.
- The pregnant woman wants a better understanding of the possibilities and limitations of prenatal screening.
What happens during a genetic consultation?
The clinical geneticist discusses the course of the pregnancy, previous pregnancies, the family medical history and the results of any prenatal tests already done.
Ultrasound findings, biochemical screening values, NIPT results and other medical information are assessed. If needed, the doctor calculates or refines the individual risk of genetic changes.
If further testing is needed, the doctor explains the possible tests, their accuracy, limitations and, where relevant, the risks of the procedure. Once the results are available, their significance for the baby’s health and further pregnancy care is discussed.
Which genetic tests may be recommended during pregnancy?
Non-invasive prenatal testing (NIPT)
Cell-free DNA of placental origin is analysed from the pregnant woman’s blood to estimate the risk of certain chromosomal changes in the baby. NIPT is a screening test, not a test that confirms a diagnosis.
First-trimester prenatal screening
Ultrasound findings and, depending on the screening chosen, biochemical markers in the mother’s blood are assessed. These are used to calculate the risk of certain chromosomal changes.
Fetal chromosome and genetic tests
If there are medical indications, diagnostic genetic tests performed on a chorionic villus or amniotic fluid sample may be recommended. Their scope depends on the suspected change.
Targeted tests for inherited diseases
When a specific inherited disease or a known genetic change has been found in the family, targeted genetic testing of the baby may be recommended.
The genetic consultation determines which tests are needed in your case. If a diagnostic procedure or test requires another specialised institution, an appropriate referral is discussed.
What is the difference between prenatal screening and diagnostic genetic tests?
Prenatal screening helps determine whether there is an increased likelihood of certain chromosomal changes in the baby. It includes biochemical screening tests and NIPT.
Diagnostic genetic tests can confirm or rule out a specific suspected genetic change. They usually require a sample taken by an invasive procedure, so the benefits and possible risks of the procedure are discussed beforehand.
An increased risk on a screening test does not mean that the baby has a genetic disease.
How to prepare for a genetic consultation
Bring your pregnancy record, previous ultrasound reports, and the results of prenatal screening, NIPT and any other tests you have had.
If there are inherited diseases in your family, it helps to have information about the diagnoses and, if possible, documents from earlier genetic tests.
No special preparation is needed for the consultation itself.
Frequently asked questions (FAQ)
Does every pregnant woman need a genetic consultation?
No. A genetic consultation is usually recommended when an increased risk of genetic changes is found, when the family history contains significant information or when prenatal test results are unclear.
Does a poor NIPT result mean the baby has a genetic disease?
No. NIPT is a screening test that shows an increased or reduced likelihood of certain chromosomal changes. A high-risk result usually needs to be confirmed by a diagnostic test.
Does a normal NIPT result mean the baby is completely healthy?
No. NIPT does not test for all genetic diseases and does not assess all developmental disorders in the baby. That is why routine pregnancy ultrasound scans also remain important.
When during pregnancy is it best to see a geneticist?
The timing depends on the reason for the consultation. If there is a known inherited disease in the family, it is recommended to come as early as possible. If a risk is found during prenatal screening, you should seek a consultation once you have the test result.
Does being 35 or older mean an invasive genetic test is necessary?
No. Maternal age is one of the risk factors, but the decision about diagnostic tests is made after assessing all the information and taking the patient’s choice into account.
Is amniocentesis dangerous for the baby?
Amniocentesis is an invasive diagnostic procedure with a small risk of complications, including miscarriage. Before the test the doctor explains its benefits, risks and alternatives.
Do I need a doctor’s referral?
No, you do not need a referral for a paid consultation with a clinical geneticist.
Consultation price
A consultation with a clinical geneticist is charged according to the Baltic American Clinic price list in force. Any additional genetic and prenatal tests are discussed during the consultation and paid for separately.