Growing consumer awareness and the increasing availability of genetic tests for many conditions is likely increasing the number of questions your patients are asking about their risk of disease, the risk to their offspring and whether genetic testing is right for them. Genetic counselors can help you address your patients’ needs and incorporate genetics and genomics into your practice.
1. What is prenatal genetics?
Prenatal genetics is the genetics specialty that focuses on potential risks to a current or future pregnancy, including risks for genetic conditions or birth defects.
Prenatal genetic counselors provide information about the risks of chromosomes abnormalities, birth defects or other genetic conditions to individuals, couples or families. Genetic counselors help facilitate the decision-making process, allowing patients to make informed choices about prenatal screening and testing options. The genetic counselor helps coordinate testing and communicates results to the patient. Genetic counselors also provide families with resources, educational materials, and short-term psychosocial support.
2. Whom should I refer to a prenatal genetic counselor?
There are many reasons to refer a patient for prenatal genetic counseling including:
- Women or couples interested in screening or diagnostic testing for a current or future pregnancy
- Women who will be 35 years or older at the time of delivery with a singleton gestation
- Women who will be 33 or older at the time of delivery with a multiple gestation
- Women who have had abnormal results from prenatal screening tests, such as ultrasound or blood work
- Women who have had abnormal results from diagnostic testing, such as CVS or amniocentesis
- Individuals of ethnic groups in which particular inherited diseases are more common, including African-American, French-Canadian, Jewish, Mediterranean or Asian backgrounds
- Women exposed to certain medications, drugs, significant radiation, and/or particular infections during pregnancy
- Couples with a history of multiple miscarriages or infertility
- Individuals who are known carriers of a genetic condition
- Couples in which either parent has a personal diagnosis, previous child, or family history of birth defect, genetic disorder or mental retardation
- Families with known consanguinity
3. What benefit does a prenatal genetic counselor provide to my patients (PCP and/or specialist)?
The genetic counseling process allows patients the opportunity to understand potential genetic risks, enabling them to make informed decisions for a current or future pregnancy in a supportive and non-directive environment. This process helps patients make the best decision for themselves in the context of their personal and cultural beliefs.
Prenatal genetic counseling involves providing information about the chromosome abnormality, birth defect or genetic condition of concern; providing information about available testing options; discussing the factors involved in making decisions about carrier or prenatal testing; and helping the patient adjust emotionally to having or being at risk to have a baby with a birth defect or genetic disease.
When a pregnancy is diagnosed with a birth defect or genetic condition, a prenatal genetic counselor can help the couple understand the medical information surrounding the diagnosis, including potential causes and risks of recurrence. The counselor will review available testing options and help families understand what to expect during the pregnancy and after delivery. Genetic counselors discuss options available to the family including continuation of the pregnancy with expectant management, pregnancy termination, or adoption. The counselor is also trained to provide psychosocial support to families during this emotional time.
The counselor’s genetic expertise enables him or her to arrange and coordinate appropriate genetic testing, as well as communicate results to patient and physicians. When indicated, genetic counselors are able to facilitate appropriate referrals to other specialists and offer patients many resources, such as education materials and connections to support groups and other families who have experienced similar situations.
4. What evidence is there to recommend or support genetic counseling in prenatal genetics? (i.e. list Practice Guidelines, Publications, and Policies that recommend and support genetic counseling in this clinical area and we will hyperlink to them on the NSGC website if they’re available online or include a PDF document)?
A number of expert opinions recommend prenatal genetic counseling including the American College of Medical Genetics (Practice Guidelines June 2007, January 2008, November 2008), the Society of Maternal-Fetal Medicine (Simpson LL 2009, Reddy UM et al 2006, Malone FD 2003) and the American College of Obstretricians and Gynecologists (Practice Bulleintin No. 77, January 2007).
5. What do I tell my patient about a referral to prenatal genetic counselor (what to expect during the appointment, what questions will be asked, what topics will be discussed, how the appointment will be valuable to them)?
An appointment with a prenatal genetic counselor usually includes the following:
- Review of the patient’s medical and pregnancy history
- Review of the patient’s and her partner’s family histories
- Discussion of identified risks, including
- Description of the features and characteristics of the condition(s) for which there may be an increased risk
- Review of the results of any relevant testing that has already been performed
- Quantification of the risk for the current or future pregnancy
- Identification of other at-risk family members
- Discussion of testing options, which may involve screening tests (carrier screening, serum screening, ultrasound) or diagnostic tests (chorionic villus sampling, amniocentesis), including
- Discussion of potential results and their implications
- Discussion of pregnancy options, including continuation, adoption, and termination of the pregnancy
The ultimate goal of a prenatal genetic counseling session is to address the patient’s individual concerns and answer any questions the patient may have. During the process, the prenatal genetic counselor can also offer support and counseling to address psychosocial issues that may arise when the results of carrier or prenatal testing are abnormal, such as feelings of guilt, blame, anxiety, and grief/loss of a normal pregnancy when the fetus is found to have an abnormality. After the appointment, the counselor will send a letter summarizing what was discussed during the session to the patient and/or appropriate physicians.
6. Where can I find a prenatal genetic counselor?
Search the NSGC Find a Genetic Counselor Directory and select prenatal genetics under type of specialty.