Disclaimer

The "Critical Element of Genetic Evaluation and Genetic Counseling" was written and approved by genetic professionals and perinatologists within the state of Washington. The document is to act as an aid to medical geneticists, genetic counselors, and perinatologists who practice within our state. This Critical Element of Genetic Evaluation and Genetic Counseling does not define the applicable standard of care, nor is it intended to dictate an exclusive course for the diagnosis, counseling, treatment or management of genetic conditions or birth defects. The authors acknowledge that appropriate clinical practices may vary depending upon a number of factors including, among others, the needs and choices of the individual patient, the resources available, and limitations unique to the particular institution or type of practice.

1. Review patient/family questions; reason for referral; knowledge base; perception of disease status and/or risk; what diagnoses have been considered; perceived notion of causation; assess need for professional interpreter: understanding that risk is for Down syndrome, rather than neural tube defects; understanding of the meaning of "screening" test.

2a. Using standard symbols, obtain family history (1st and 2nd degree relatives to consultand, and further removed as appropriate). Note ethnic background, consanguinity, ongoing pregnancies, and other significant family history.

b. Additional directed family history: Down syndrome, miscarriage/stillbirth

c. Obtain relevant medical records on patient/affected family member(s), including records on appropriate diagnostic testing/evaluation: lab report to check screening results and US to confirm gestational age, karyotype if history of Down syndrome or pregnancy loss , and on other family members as needed: karyotypes if history of Down syndrome or pregnancy loss

3. Obtain patient's past and current pregnancy history; documenting gestational age, Rh, prenatal exposures, pregnancy complications and pertinent prenatal testing to date.

4. Obtain patient's past medical history.

5. Obtain information on education, employment and social functioning as appropriate.

6. Assess family functioning and use of community resources, as appropriate. Assess personal (e.g. social, ethnocultural, religious) issues, including feelings about prenatal testing and consequences.

8. Other issues to consider: Correct gestational age, accuracy of ultrasound dating versus menstrual dating, short femur/humerus in Down syndrome and effect on gestational dating, screen should be repeated only if ultrasound shows initial sample was drawn too early in pregnancy; recalculate risk if > = 2 week dating discrepancy but patient still at least 15 weeks; screen may be invalid in the presence of twins or maternal IDDM; awareness of statistical limitations of screening related to specific combination of analytes and specific criteria for screen positive results.

Information to be provided or discussed with patient/family

(this may occur in a series of multiple patient visits)

1a). Discuss risk of specific condition occurring in current pregnancy based on information available. Arrange for additional tests/evaluations on consultand and/or father of the baby if indicated: karyotypes if family history suggestive of Down syndrome or translocation.

b). Discuss sensitivity/specificity of test(s)/evaluation(s):

c). Discuss referral of other family members for genetic testing/evaluation if inheritable disease is suspected and confirmation is necessary.

2a). Discuss general background risk for birth defects, including any additional risk based on family history/ethnicity/maternal age/maternal disease/maternal exposure/others:

b). Discuss inheritance pattern of disorder, including risk for future pregnancies:

3. Discuss the following issues related to natural history: prognosis, developmental outcome/intellectual functioning, anticipated possible medical complications, including pregnancy related risks for affected women if indicated, and preventive measures:

4a). Review prenatal testing options as indicated:

b). Discuss risks and limitations of prenatal testing options, including sensitivity/specificity of test method(s): Include discussion of limitations of sonographic detection of abnormalities associated with Down syndrome

6. Document status of decision making by patient/family.

7. Make arrangements for testing if desired and plan for relaying results and for follow-up: If fetus has Down syndrome offer fetal echocardiogram > 20 weeks and third trimester scan to rule out duodenal atresia which usually does not manifest until third trimester (see Down syndrome CE).

8. Consider referral to specific community resources and support groups.

10. Other issues to consider: If normal fetal karyotype variety of other pregnancy complications have been associated with high and low levels of analytes (e.g. high hCG and preeclampsia). If fetal translocation offer parental karyotypes (see Translocation Down syndrome CE).

11. References and/or other protocols: