My first trimester screening result is high risk. Does this mean my baby has a

[Anonymous]

My first trimester screening result is “high risk”. Does this mean my baby has a genetic condition, and what happens next?

[Genetic Counselor]

No. A high-risk result means the chance is higher than the laboratory’s cut-off. It does not mean the baby has the condition. Because the test flags about 5 in every 100 pregnancies, and chromosome conditions are much less common than that, most pregnancies with a high-risk result turn out to have a baby with normal chromosomes. It is natural to feel frightened. The next step is to get clear answers, not to decide straight away.

• Meet a genetic counselor or clinical geneticist They will explain what your specific number means, since a result of 1-in-10 is very different from 1-in-200. They will also review the scan findings and your family history.
• Option 1: Non-Invasive Prenatal Testing This is a more accurate screening test that looks at small fragments of the baby’s DNA (from the placenta) in the mother’s blood. It carries no risk to the pregnancy. It is still a screening test, so a high-risk result from it also needs confirmation.
• Option 2: Diagnostic testing This gives a definite answer by testing the baby’s own cells. Chorionic villus sampling takes a tiny sample of the placenta, usually at 11 to 14 weeks. Amniocentesis takes a small amount of the fluid around the baby, from 15 weeks onwards. Both carry a small chance of miscarriage, which should be weighed against the chance found on screening and what the answer would mean for your family.
• What the laboratory tests for the sample is usually checked for the common trisomies, often with a rapid test. When the scan shows a thick nuchal translucency or a structural difference, guidelines recommend a chromosomal microarray. This test looks for small missing or extra pieces of chromosomes that a standard chromosome study can miss.

Some families choose further testing to prepare. Others choose not to test at all. Both are valid choices, and your care team should support whichever path you take.

[Author]

Posts