What is Prenatal Genetic Counseling?

We explore prenatal genetic counseling as an important support service for parents-to-be.

Within genetic counseling there are specific counseling services that allow those facing a rare disease diagnosis, to receive targeted support, and care as they navigate the diagnostic process. 

One of these services includes prenatal genetic counseling, a specialized type of genetic counseling for parents-to-be.

prenatal genetic counseling

What is prenatal genetic counseling?

Prenatal genetic counseling is for anyone planning a pregnancy, when they know that there is an increased risk of having a child born with a rare disease or genetic syndrome, based on family history, or based on the knowledge that one or both parents are carriers of gene mutations that can be inherited. 

Some individuals and couples opt to undergo prenatal genetic counseling before planning a pregnancy even without any family history of a rare disease, for others it is something that becomes a necessity following prenatal genetic testing during pregnancy.

What is the importance of prenatal genetic counseling?

Prenatal genetic counseling is essential for parents-to-be, who might be facing the possibility of having a child born with a rare disease, either because of family genetic history, or because initial genetic testing has shown a potential risk of their unborn child being born with, or developing a genetic syndrome. 

This type of genetic counseling is a thorough, specialized process that will provide the following support and assistance for parents:

  • Information about the type of rare disease diagnosis their future child might be facing, or will possibly face. This includes answers about its cause, the potential symptoms, and the potential severity of the syndrome. This will also include an understanding of the quality of life a child with a specific rare disease will enjoy. 
  • A greater understanding of the genetic risks involved, based on the family history and genetic health of both parents. This will include understanding the risk involved when it comes to a potential child developing a rare disease, and if there are any steps the parents can take to prevent the inheritance. 
  • Exploration of the diagnosis options, from genetic analysis, screening and testing. This will include details of the tests available, their procedures, risks, and expected outcomes. Prenatal genetic testing can help parents understand which genetic tests are necessary prenatally, and also post birth. 
  • Support with decision making on how parents can ensure a healthy pregnancy. For some couples, depending on the genetic mutations they carry, this might involve considering egg or sperm donations pre pregnancy, in order to ensure a healthy child. 
  • Guidance on understanding the potential long term care needs of a child born with a specific rare disease, their life outcomes, and what this will mean for the parents and whole family. 

Prenatal genetic counseling is also available for parents, who do not necessarily have any reason to anticipate a higher risk for a rare disease, but who want to fully understand the options for prenatal genetic analysis, and testing. 

In recent years there has been the development of increasing numbers of prenatal genetic tests, and navigating these options, what they test for, their accuracy and value, is important for all parents to be. Prenatal genetic counselors are able to walk parents-to-be through these tests.

What does prenatal genetic counseling involve?

Genetic counseling what to expect

Family History

Usually the first step will involve the genetic counselor taking a complete family medical history of the parents to be. This might initially include just immediate family, and then extend to more distant branches of the family as well.  This family medical history taking will be very detailed, and it’s aim is to better understand if there is a risk of rare disease developing in a future child, and if so, what that genetic syndrome might be. 

Genetic Testing

The next step will involve recommendations of specific prenatal genetic tests. If these have already been completed pre-counseling, so the counseling will focus on helping parents-to-be understand the results of these tests, what it means in terms of the chances of the child-to-be actually developing a specific rare disease, and what the next steps might be in terms of further genetic testing.

Medical & Emotional Support

Prenatal genetic counseling also helps parents-to-be make sense of medical recommendations, in terms of the care of their child-to-be both before and after birth. The medical information can be very overwhelming for parents, and genetic counseling aims to break it down for parents and present it in a way they can understand and act on. 

Sometimes prenatal genetic counseling involves walking parents-to-be through some very difficult decisions. In some cases, a pregnancy may be considered not viable, and a prenatal genetic counselor will support parents through this devastating process. Offering emotional support, is a crucial role of any genetic counselor, and even more so when it comes to prenatal genetic counseling. 

Part of this support involves connecting parents with support groups for rare disease, which can provide another layer of crucial support during what is a difficult process for many families. Support groups also do a lot to raise awareness of rare disease, and push for greater research into its causes and symptoms.

Invaluable Support Service

Prenatal genetic counseling is an invaluable support service for all parents-to-be, whether they are already aware of a potential risk of a rare disease in their unborn child, or not. Anyone undergoing prenatal genetic testing, even as a part of standard pregnancy testing, should consider prenatal genetic counseling to support them through this challenging, complicated, and sometimes difficult process. 

 

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