Obtain Family History
Questions for Patient and Partner:
- Do you have any children or other relatives with a birth defect, genetic condition, autism, developmental delay or learning disability?
- Does your ancestry include any of the following?
- Eastern European
- Caucasian, non-Hispanic
- French Canadian
- Cajun African
- Have you had two or more miscarriages?
- Have you had a previous pregnancy loss due to a birth defect, genetic disease, or death (pre- or post-partum)?
- Will you be 35 years old or older at the time of birth?
If yes to any to any of the above:
- Refer the couple to a prenatal genetic counselor for appropriate counseling and potential testing
- Discuss importance of further exploration to identify the scope and significance of the concern, and strategies to identify and reduce risk https://beforeandbeyond.org/toolkit/at-risk-unsure/genetic-history/
Content adapted from Before, Between and Beyond Pregnancy
Prenatal Genetic Screening & Testing
- ACOG FAQ about Prenatal Genetic Screening Tests – https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests
- The Prenatal Testing Timeline (link: https://www.acog.org/-/media/project/acog/acogorg/womens-health/files/infographics/prenatal-genetic-testing-chart.pdf?la=en&hash=34D50DE41EDC8300709BB9D92C6F71DF ) shows the different types of tests available at various stages of pregnancy.
- Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Prenatal genetic testing is able to detect a broad range of genetic disorders, however it cannot identify all abnormalities or problems in a fetus,
- It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing.