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 about causation; assess need for professional interpreter:

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: miscarriages, neonatal death, known or suspected chromosome abnormalities, Down Syndrome, individuals with multiple anomalies/MR.

c. Obtain relevant medical records on patient, including records of 1).appropriate tests/evaluations: karyotype, genetic evaluations 2). records bearing on management: thyroid, CBC, echocardiogram and 3). on other family members as needed: karyotype

3. Obtain prenatal and perinatal history of patient, including prenatal exposures, pregnancy complications and prenatal testing, when appropriate.

4. Obtain past medical history (including environmental/occupational exposures) focusing on: congenital heart disease, GI, hematology, development, vision, hearing/ear infections.

5. Obtain information on growth and development, including school placement. For adult, also obtain information on education, employment and social functioning.

6. Assess family functioning and use of community resources. Assess personal, social, religious, ethnocultural issues.

7. Assess possible ethical concerns, such as confidentiality, non-paternity, insurability, discrimination, prenatal diagnosis:

8 Perform general physical examination of patient and/or other family members present if indicated, with attention to: physical stigmata of Down Syndrome, heart, growth (ht, wt, OFC), informal developmental assessment.

9. Other issues to consider:

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

1. Summarize information obtained and discuss with patient/family the (possible) diagnosis and the degree of certainty of the diagnosis based on available information.

2. a). Recommend relevant tests/evaluations on patient and/or on other relatives which may include:

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

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: reproductive issues.

4. Review inheritance pattern (including penetrance and expressivity): sporadic chromosomal

5. Assess and discuss recurrence risk for future pregnancies, for affected and at risk individuals. Discuss general background risk for birth defects and recommendations for preconceptional and prenatal use of 0.4 mg folate per day. Including any additional risk based on family history/ethnicity/maternal age/maternal disease/maternal exposure/others; discuss recommendations for preconceptional folic acid supplementation:

6a. Discuss reproductive options (e.g. assisted reproductive technologies, adoption, taking risk and no additional pregnancies) when appropriate: pregnancy with or without prenatal diagnosis.

b. Discuss prenatal diagnostic options/issues: refer to prenatal CE.

(or referral for discussion of)

7. Review management recommendations/options including screening protocols: As outlined in the American Academy of Pediatrics Health Supervision for Child with Down Syndrome.

8. Consider referral to: (medical specialties) cardiology, ophthalmology, developmental pediatrician, audiologist, PT/OT

9. Address psychosocial issues including anticipatory guidance, patient and family reaction to diagnosis, need for community support services.

10. Address follow-up issues, such as genetic counseling for extended family members, including a plan for relaying test results:

11. Document clinic visit, including persons present, and subsequent substantive contacts (e.g. clinic note, +/- letter to referral source, +/- letter to family; other). Contact referring health care provider as appropriate.

12. Other issues to consider:

13. References and/or other protocols:

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:

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: miscarriages, neonatal death, known or suspected chromosome abnormalities, Down Syndrome, individuals with multiple anomalies/MR.

c. Obtain relevant medical records on patient/affected family member(s), including records on appropriate diagnostic testing/evaluation: karyotype and genetic evaluations and on other family members as needed:

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.

7. Assess ethical issues, such as confidentiality, insurability, discrimination and non-paternity.

8. Other issues to consider:

(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: increased recurrence risk for trisomies is identified for couple with a child with Trisomy 21; all other family members have the maternal age related risk for chromosome abnormalities.

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):

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.

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

10. Other issues to consider: Maternal Serum Screening

11. References and/or other protocols: