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:

c. Obtain relevant medical records on patient, including records of 1).appropriate tests/evaluations: karyotype, echocardiogram, renal ultrasound, 2). records bearing on management: thyroid treatment, hormone replacement, schooling issues , and 3). on other family members as needed:

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:

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: height, blood pressure

9. Other issues to consider: Age of patient will determine relevant clinical issues (e.g. infant - feeding problems; young child - growth hormone treatment discussion; adolescent - ovarian hormone replacement; infertility/fertility)

(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:

4. Review inheritance pattern (including penetrance and expressivity): sporadic chromosomal for 45, X

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. Include any additional risk based on family history/ethnicity/maternal age/maternal disease/maternal exposure/others:

6a. Discuss reproductive options (e.g. assisted reproductive technologies, adoption, taking risk and no additional pregnancies) when appropriate: not relevant for her parents; for affected woman - adoption, GIFT , no pregnancy with own eggs for affected

b. Discuss prenatal diagnostic options/issues:

(or referral for discussion of)

7. Review management recommendations/options including screening protocols: age dependent

8. Consider referral to: ophthalmology, otolaryngology, cardiology, endocrinology/gyn, psychology/psychiatry as deemed necessary

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: risk for gonadal blastoma in girls with 45,X/46,XY

13. References and/or other protocols:

Sybert, VP. The Adult Patient with Turner Syndrome in Turner Syndrome in a life span Prospective: Research and Clinical Aspects. Albertsson-Wikland, K. and Ranke, M. (eds) Excerpta Medica, 1995.