Genetic counseling is an interactive process, which aims to provide individuals, couples, and families with complete and accurate information about genetic conditions, their occurrence, and reoccurrence in the family. There are different types of genetic counseling like premarital, pre-conception, prenatal, paediatric, and adult-onset forms of genetic counseling. Prenatal genetic counseling is one of its forms where a prenatal genetic counselor works with couples who have an increased risk of having a child with a birth defect or genetic disorder.
Pregnancy is usually a time of excitement for couples but it can also be a stressful one. Pregnant women may be overwhelmed with the number and variety of prenatal tests available like blood tests, urine tests, screening tests, monthly medical examinations, and tracking family history all help to assess the health of pregnant women and their baby.
If your doctor has referred, you for genetic counseling you might be stressed with thoughts regarding your pregnancy but a genetic counselor can give you helpful information, guidance, and often peace of mind. There are several reasons your doctor might refer you for prenatal genetic counseling:
– Advanced maternal age
– Family history of a birth defect or genetic disorder.
– Abnormal prenatal screening report or anomalies detected in USG scan.
– Plan for prenatal diagnosis of the genetic condition diagnosed or yet undiagnosed in the family.
However, couples who have no specific indications can also get benefit from genetic counseling. In pregnancy, prenatal screening is becoming a routine, but sometimes it becomes increasingly complicated with more and more test options available for patients to consider.
Prenatal screening tests are designed to identify whether the pregnancy is at any increased risk of certain birth defects, many of which can be a genetic disorder. These tests include a specific type of ultrasound, blood tests like double marker test and Non-invasive prenatal test (NIPT).
On the other hand, Prenatal confirmatory genetic testing refers to diagnostic tests which require invasive procedures such as chorionic villi sampling or amniocentesis, the sample is then used to examine the genetic information of the fetus. Genetic counseling helps prospective parents to discuss these numerous options and can guide them in their decision-making process.
Although, each genetic counseling session are generally unique depending upon the patient’s concerns here is an example of what you can expect in a prenatal genetic counseling session.
Introduction: The session starts with a conversation with the prospective mother and her partner/or support person about pregnancy, including what are the concerns and type of information they want to seek in the session.
Set an agenda: After taking note of the concerns an agenda is going to be established to stipulate the sort of information which will be provided to make sure that both the genetic counselor and therefore the patient are comfortable with the plan.
Family history review: A three-generation family history and pregnancy history will be taken. While something in your family history might not be the reason for your referral however all decisions regarding prenatal screening or testing are taken into consideration in the context of the patient’s full family history.
Information and assessment: The genetic counselor will provide the information and all possible options depending upon the timing of the pregnancy. This may include an assessment of specific risk in the pregnancy by providing options of prenatal screening or testing. The Genetic counselor will also explain what possible results might mean and how the health care team can use the information as a guide to take care of your pregnancy.
Decision-making: If a patient is offered prenatal screening or genetic testing, the genetic counselor will help the patient to understand the process and ultimate decision to be made by the patient whether they would like to pursue the option or not.
Support: Couples might be overwhelmed by the information they get in the session which might make them nervous or scared about the potential test results and sometimes anxious about unknowns during the pregnancy. Genetic counselors are trained in handling these situations and will support you throughout the session during your decision-making process.
The purpose of prenatal genetic counseling is to empower prospective parents to make an informed decision about their pregnancy, it’s a personal choice whether to have a genetic test during pregnancy but having a piece of up-to-date information can make the decision process easier.
Lilac insights provides a state of art genetic consultation and counseling service where a team of expert clinical geneticists and genetic counselors help individuals with the information and support regarding complex genetic concept to make informed choices.
Author
Sutopa Singha
Genetic Counselor
Lilac Insights Pvt. Ltd.