Renée L. Chard, MSc, CGC

While most genetic disorders occur in patients with no relevant family history or risk factors, patients who have a family history of concern often benefit from genetic counseling.Â For more information on genetic testing:Â New tools for counseling on prenatal genetic testing

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While most genetic disorders occur in patients with no relevant family history or risk factors, patients who have a family history of concern often benefit from genetic counseling.

7 elements of pretest counseling

The prenatal genetic testing landscape has expanded significantly. For some women considering testing, it may be helpful to complete a decision aid.

These 11 statements to guide decision-making with patients can help patients fully consider their values and preferences.

1. I would want to know if my pregnancy is affected with a genetic condition or congenital anomaly.

2. I want the most information available about my baby and my pregnancy, even if there is a small risk associated with obtaining that information.

3. I would not have a test that could cause miscarriage of pregnancy, even if the chance is very small.

4. I would end a pregnancy if affected by a genetic condition or congenital anomaly.

5. I want information about my pregnancy before sharing the news with my friends or family.

6. I have more anxiety worrying about the possibility that my baby may have special health needs than if I knew for sure and could prepare.

7. I do not want a test that would tell me if I have a genetic condition. 

8. I would rather know before birth if the baby has a genetic condition or congenital anomaly.

9. I want to get as much information about my pregnancy as I can before having diagnostic testing.

10. I value information that is more precise for a smaller number of conditions (such as Down syndrome) rather than less precise information about more conditions.

11. The cost of the testing options could influence my decision. 

New tools for counseling on prenatal genetic testing

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These 11 statements to guide decision-making with patients can help patients fully consider their values and preferences in regard to prenatal testing.

11 tips for guiding patients considering prenatal testing

In some cases, it’s prudent to refer a patient to a genetic counselor for discussion of testing options. However, it’s neither practical nor realistic to send every prenatal patient for formal genetic counseling. Therefore, obstetricians need to have a strategy to provide basic pretest education and counseling to their pregnant patients.

For more information on genetic testing: 

These are eight indications for referral to genetic counseling:

1.  Family history of a known or suspected genetic disorder
	2.  Known carrier of a genetic condition
	3.  Consanguinity (blood relationship of parents, first cousins, or closer)
	4.  Fetal structural anomaly on prenatal ultrasound
	5.  Abnormal screening test result either traditional serum screening or cell-free DNA screening.
	6.  Known teratogenic exposure
	7.  Recurrent pregnancy loss (3 or more first-trimester losses, stillbirth, or neonatal or fetal loss with structural anomalies)
	8.  Patient request for additional information regarding genetic test options

Obstetricians need to have a strategy to provide basic pretest education and counseling to their pregnant patients.

Eight indications for referral to genetic counseling

In a busy obstetrical practice, use of a family history questionnaire or checklist is usually the most practical means of assessment. Asking patients to complete the questionnaire prior to the clinic visit can ensure that patients have time to contact family members as needed to collect more accurate information. 

For more information on prenatal genetic testing - 

New Tools For Counseling On Prenatal Genetic Testing

Resources for collecting family history information (modified from UpToDate)

Tool for patients to create their own family tree (Available in English and Spanish)

In a busy obstetrical practice, use of a family history questionnaire or checklist is usually the most practical means of assessment.