Accepting a New Diagnosis as an Opportunity to Prepare

When considering a prenatal genetic test many women have asked, “is there anything that can be done to fix a genetic condition if one is identified in the baby?”  The answer to that question is, no.  If a baby has a chromosome or genetic condition, that change is copied over into every cell in their body and there is nothing that can be done to change that.

Most women/couples who learn during pregnancy or after birth that their baby has a genetic condition feel overwhelmed, scared and uncertain about what the diagnosis will mean for their baby.  There is often a period of time where people grieve the loss of the baby they were expecting as they adjust to the new and unexpected characteristics their baby may have. Those feelings are completely normal and are experienced by many loving parents regardless of whether their baby is diagnosed during the pregnancy or after they are born.

Some women and couples do find value in learning if their baby has genetic condition prior to birth so they can prepare mentally, emotionally, and practically.   For instance, some women report that while they plan to continue their pregnancy no matter what the diagnosis, they would want to know in advance to adjust to and learn about the new diagnosis during the pregnancy so that they feel ready to celebrate the birth of their baby when he or she is born. Some women/couples use the time during pregnancy to educate friends and families and get connected with a community of support.

From a practical standpoint, a diagnosis of a genetic condition or health concern in a pregnancy may lead to changes in the plans regarding the birth of the baby.  For instance, a woman who is expecting a baby with a heart defect may choose to deliver her baby in a bigger hospital with ready access to a high level neonatal intensive care unit and pediatric heart specialists (pediatric cardiologists).

For most genetic conditions and health concerns, there is no special treatment of the baby that can be done during the pregnancy.  In some cases, special care is needed after birth, depending on the specific condition.

Rarely, some specific conditions diagnosed during a pregnancy may open up options for special treatments during the pregnancy.  For instance, some women who learn that their baby has a open neural tube defect, such as spina bifida, may consider fetal surgery that is done during the pregnancy to close the opening in the baby’s spine.  This type of surgery does have some risks and it is important to be informed about all of the options and alternatives.

Sometimes people receive a prenatal diagnosis indicating that their baby may not survive very long after birth and often may have a higher chance of miscarriage or stillbirth.  Perinatal hospice can provide support and resources for individuals and families who are continuing their pregnancy and hope to make the most of whatever time they may have with their baby. Please know that support is available.  For more information, see the perinatal hospice online resources below. 

For specific genetic conditions and birth defects, we have additional resources that can be found  here.

Online Resources:

http://downsyndromepregnancy.org/

Down Syndrome Pregnancy has an abundance of helpful information for individuals who have learned during pregnancy that their baby has Down syndrome.  While the information on this site is geared specifically towards Down syndrome, many of the resources could be helpful and applied to a diagnosis of many other genetic conditions.  The website includes helpful letter templates that can assist you in communicating this information to relatives as well as excellent questions to consider discussing with your doctor regarding the birth plan.

Perinatalhospice.org offers an abundance of resources for couples who are finding out during pregnancy that their baby has a life-limiting condition.

Perinatal hospice and palliative care is an innovative and compassionate model of support that can be offered to parents who find out during pregnancy that their baby has a life-limiting condition. Perinatal hospice also enables families to make meaningful plans for the baby’s life, birth, and death, honoring the baby as well as the baby’s family.

 Video on perinatal hospice delivery

This moving video highlights what perinatal hospice can look like through a pictorial story of a family who was willing to share their journey.