2025
Genetic screening tests during pregnancy
Category (s):
Postpartum
Genetics
Welcome
These tests can tell you the chance that your baby carries certain genetic conditions. They're optional, and whether or not you have them is entirely your choice. Talk it over with your health professional so you can make an informed decision.
Several types of genetic screening tests are offered during pregnancy.
NIPT is a blood test that can be done as early as the 10th week of pregnancy. It analyzes the fetal DNA present in the mother's blood to screen for certain chromosomal abnormalities, including:
This test is very reliable, but it isn't diagnostic. A positive result has to be confirmed with an invasive test.
Done between 11 and 14 weeks, this screening combines a blood test and an ultrasound (nuchal translucency measurement). It assesses the risk of trisomy 21, 18 and 13.
An invasive diagnostic test done at around 15-20 weeks. A sample of amniotic fluid is taken to analyze the baby's chromosomes. It carries a small risk of miscarriage.
An invasive diagnostic test done at around 10-13 weeks. A sample of the placenta is taken for chromosomal analysis. It also carries a small risk of miscarriage.
Although these tests are offered to every pregnant woman, some situations may call for particular attention:
Whether or not to have these tests is a personal choice, and it should be based on your values, your beliefs and your situation. Talk with your health professional about the benefits, limitations and implications of each test. Think about what you would do with the results and how they might affect your pregnancy and your future decisions. Don't hesitate to ask for psychological support if you need it.
The prenato.ca website and the comprehensive information it contains are intended as practical tools for expectant and new parents, as well as for women throughout the various stages of their lives. This information is not intended to replace the skills, knowledge, or experience of qualified healthcare professionals who are familiar with the specific facts, circumstances, and symptoms of each individual. Consequently, Prenato and its staff cannot be held liable for any adverse effects or consequences resulting from the use of the information provided on this site. It is the user's responsibility to consult a physician or a qualified healthcare professional appropriate to their specific needs for any personal health concerns.
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