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 mother/family questions; reason for referral; knowledge base; perception and impact of ultrasound findings 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, individuals with MCA/MR family history of cystic fibrosis

c. Obtain relevant medical records on mother/affected family member(s), including records on appropriate diagnostic testing/evaluation: ultrasound report, maternal serum screening, karyotype and genetic evaluations, CF-DNA results, infectious status (such as TORCH) and on other family members as needed:

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

4. Obtain parents' 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: patient’s possible notion of degree of echogenecity

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

1a. Discuss ultrasound finding, limitations of ultrasound examination; consider appropriateness of repeating ultrasound examination.

b. Discuss differential diagnoses normal, poor pregnancy outcome, placental bleed, chromosome abnormalities, cystic fibrosis, fetal infection, obstructive bowel disease, other syndromes based on ultrasound findings and available information. Discuss likelihood of each, and degree of echogenecity which may correlate with the clinical outcome.

c. Arrange for additional tests/evaluations on mother and/or father, or other family members of the baby if indicated: CF-DNA

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

2a. Review additional prenatal testing options based on differential diagnosis, probability of diagnosis, gestational age, and availability:

b. Discuss risks and limitations of prenatal testing options, including sensitivity/specificity of test method(s); specific diagnostic testing not available for all condition; availability of specific diagnostic test may be dependent on gestational age:

3. Explore psychosocial impact of testing vs. non-testing, ethical issues, and discuss the decision making process. Refer to outside resources as appropriate to help with decision making. (Process includes the discussion of outcomes/results; additional testing; option and availability of termination of pregnancy and discussion of methods; grief and supportive counseling; pediatric follow up; and support groups).

4. Make plans for relaying results and/or arrangements for follow-up tests if desired/indicated; and/or additional prenatal testing as indicated.

5a. Discuss the following prenatal and perinatal issues related to this pregnancy: diagnosis or possible diagnoses, fetal prognosis including expected course during gestation, anticipated possible maternal or fetal medical complications, and management of pregnancy and delivery, or arrangements for termination of pregnancy if desired and as available: possible resolution of finding, fetal or neonatal death

b. Discuss the following postnatal issues related to the natural course after delivery: prognosis,

anticipated possible medical complications, developmental outcomes/intellectual

functioning: possible surgery

c. Discuss follow-up evaluation after delivery: consider: medical genetics evaluation, photographs, appropriate lab/imagining/diagnostic studies, autopsy if non-viable condition.

d. Discuss inheritance pattern of disorder(s) based on final diagnosis, including risk for future pregnancies and the availability of prenatal diagnosis. Refer to prenatal and clinical CE if diagnosis made:

6. Document status of decision(s) by mother/partner.

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

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

9. Other issues to consider:

10. References and/or other protocols:

Snijders RJM and Nicolaides, KH: Ultrasound Markers for Fetal Chromosomal Defect. Parthenon Publishing Group, New York. 1996