Family Matters: Collecting family health history is an important step when planning for pregnancy
Everyone hopes for the best as they plan for pregnancy. And they should! Most babies are healthy. Although there is no way to guarantee a healthy baby, talking to family members about family health history is an important first step for protecting your family's future.
How does knowing family health history benefit people as they plan for pregnancy?
Again, most babies are healthy, but about 3-5% have some type of problem with development. Although there is no way to guarantee a healthy baby, family health history may give parents-to-be better access to treatments, expand their family planning options, and allow testing of a pregnancy. They can also share the information with additional family members.
Collecting family health history is the first step toward the best possible care for babies that have inherited diseases and birth defects.
Although inherited conditions are uncommon, but by being aware of family health history, there are sometimes things parents-to-be can do about it . For example, pharmaceutical companies have invested heavily in inherited diseases because inherited diseases often have known biologic pathways. As a result, many more treatments are available for conditions that in the past had only supportive care.
Many families now have hope for much better outcomes for their children with inherited diseases.
However, the timing of the diagnosis (and therefore delivery of treatment) can be important. Without clues from family health history, a child may have symptoms of a condition for a while before a diagnosis is made. Some therapies are more effective if they are provided before too many symptoms appear. If there is a known inherited condition in a family, a child can be tested for the condition and treated earlier.
Surgeries are also available for correcting some physical birth defects. Specialized ultrasounds during pregnancy can sometimes identify physical birth defects. If family health history suggests a higher chance for a specific problem, then the specialized ultrasound might be done during pregnancy. If a child is known to have a physical birth defect through ultrasound diagnosis during pregnancy, it may help for the child to be delivered at a special medical center. At a few centers in the United States, some surgeries are even offered while the baby is still in the uterus.
Collecting family health history and genetic testing before pregnancy allows more family planning options.
The earlier people start planning for pregnancy and collecting family health history, the more options they have for family planning. For example, many people do not realize that the process of in vitro fertilization (IVF) can be used for genetic testing on embryos even if a couple has no concerns about fertility. IVF is the process by which an egg is retrieved and fertilized by a sperm outside the body (In a laboratory), and then the fertilized egg (or embryo) is transferred into the uterus.
Special genetic testing, called preimplantation genetic testing (PGT), allows testing of embryos before they are transferred to the uterus during the IVF process.
For example, if parents-to-be know ahead of time that DNA findings mean an increased chance to have a baby with a specific inherited disease, genetic testing for this disorder may be possible on the embryo. In PGT, the IVF center takes a small number of cells from the outer layer of an embryo at five days of development. A special genetic testing lab can perform genetic testing on this small number of cells from the embryos to look for the non-working gene or genes that cause disease. The IVF center will then transfer only the embryos without the disease into the woman’s uterus.
Although this additional genetic testing adds some costs, it may be preferable to testing a pregnancy. Testing a pregnancy can carry ethical dilemmas for the parents if a problem is found and they have to decide whether to continue the pregnancy. Many people feel more comfortable testing an embryo and only transferring embryos that are not affected by the inherited condition. Although testing embryos through IVF is available to any couple, it might not be discussed with people if they don’t review their family health history and have genetic testing before pregnancy to find out if they carry any genes for inherited disease.
Egg or sperm donation is another option available when planning for pregnancy and family health history or genetic testing shows there is a chance for an inherited disease.
Some people know they carry DNA findings that create a chance for a serious inherited disorder in a child, but do not want to pursue genetic testing on embryos or test a pregnancy. They still have options. Some may decide to go through IVF anyway but use an egg donor. Many IVF centers work with egg donor agencies and can help find a suitable egg donor. There are many sperm banks to find a sperm donor, too. However, if people have not collected family health history and considered genetic testing before pregnancy, they may never realize this is the right path for them.
Understandably, many people want to have a child that is genetically their own. But everyone’s journey is unique, and some people may change their minds about adoption if they learn they have a higher chance for a child with an inherited disease. Perhaps they realize that the experience of parenthood, not a genetic relationship with a child, is what they seek. In that case, if they have collected family health history and considered genetic testing before pregnancy, they may decide that pregnancy or IVF may not be the best path.
Many, many people long to be parents as part of the fundamental human experience. Services like IVF and other fertility treatments have opened many paths to parenthood that didn’t exist in the past. However, as stated above, the path to parenthood is unique for everyone. Some people find others ways to direct their parenting instincts. Channeling energy into causes that support children or into other family members, like nieces and nephews, can be very satisfying. While this is a decision that can be made without family health history or genetic testing, learning whether or not they have a higher chance to pass on an inherited disorder may influence some people’s decision.
Some people may choose to test a pregnancy if family health history or genetic testing show that the baby has a higher chance for an inherited condition.
A third option for people planning for pregnancy who know that they have DNA findings that pose a risk for a serious inherited condition in a child is to wait until pregnancy to have genetic testing on the fetus. Special medical procedures called chorionic villus sampling (CVS), done in the late first trimester, or amniocentesis, done in the second trimester, allow genetic testing to show whether a child has an inherited disorder that is known in the family. During CVS, a catheter is inserted through a woman’s cervix to obtain a small amount of tissue from the placenta. With amniocentesis, a thin needle is inserted through the mother’s abdominal wall and uterine wall to obtain a small amount of the fluid around the baby. (With CVS and amniocentesis, there is no need to touch the developing baby because the tissue or fluid contain cells, which have DNA.) A laboratory uses the tissue or fluid to look at the baby’s DNA.
CVS and amniocentesis both have a small chance to cause a pregnancy to miscarry. Parents-to-be must weigh this small chance, which is less than 1%, with the chance for a serious disorder in the child. (The chance for a disorder will vary depending on the family health history, the particular condition, and genetic testing results.)
If the results of genetic testing though CVS or amniocentesis show that the fetus has an inherited disorder, the woman and her partner will need to decide whether to continue the pregnancy. If they decide to continue, sometimes the woman's care may change.
Advance information can help manage pregnancy and delivery plans.
For example, some inherited diseases require medical intervention right away at birth, so it can be smart to deliver at a special medical center. Knowing in advance that the child has an inherited disorder can improve treatment for that child and in some cases, even allow access to drug treatments or surgeries.
Although prenatal testing is available to all pregnant women, some prenatal care providers may not offer this option unless they know that women have an increased risk of a genetic disorder. Collecting family health history as early as possible will help ensure people have the most options available.
What questions should people planning for pregnancy ask their relatives about family health history?
When planning for pregnancy, people usually want to do whatever they can to ensure a healthy pregnancy and a healthy baby. By knowing about any childhood health issues in the family, people can know if their future children could have a higher chance for those conditions.
When planning for pregnancy, it is a good idea to ask family members if there are any childhood conditions like birth defects or problems with development.
Go through each family member to record their age and health. This includes brothers, sisters, parents, nieces and nephews, aunts, uncles, grandparents, and cousins. Ask whether they had any of these childhood conditions. If the answer is yes, find out at what ages the family member first showed symptoms or got a diagnosis. If the person is living, note how old he or she is. If the person is deceased, find out the cause and the age of the death. Finally, be sure to note the details of how the person is related.
Here are some examples of how to record a health issue from the family health history:
My mother has a half-brother on her father’s side whose son was born with cleft lip. He is living and is now 25 years old and is healthy.
My cousin, the daughter of my mother’s full brother, had a DNA test that showed she is a carrier of cystic fibrosis. She is 28 years old and was tested because she was pregnant.
My maternal grandmother had a baby who died in infancy. The cause of death is not known.
What type of conditions in the family health history could be important when planning for pregnancy?
Everyone hopes for a healthy baby, and that is by far the most likely chance. Nevertheless, when planning for pregnancy, it can be helpful to ask about any birth defects or problems with development among family members.
Physical birth defects: The first category to ask about is physical birth defects. Some examples are heart defects, spina bifida, limb abnormalities, or kidney problems. For example, about 1 in 100 babies have a heart defect. Some of these are not life threatening and will just be monitored by a pediatrician, but some may require surgeries. Knowing they are there is important to be sure the parents can watch for symptoms and get appropriate medical care after pregnancy and in the newborn and early childhood period.
Severe learning problems: Some children have a different type of problem with development that does not have a physical effect but affects brain development. There are different names for this type of condition. In the past, people called it “mental retardation”, but medicine has changed to using language like “intellectual deficits” or “intellectual disabilities” instead. Some people may have severe learning problems, or a child that has not learned to walk or talk on time might be said to have “developmental delay” or “developmental disabilities”. Autism is another condition that may not be visible physically but can have inherited aspects.
Disabilities: Certain other disabilities that don’t necessarily affect intellect can be important to know about when planning for pregnancy, too. For examples, if family members have vision or hearing loss , that can sometimes have a genetic component, too. Some people may have difficulty walking, or have a different type of movement problem, like tremors or stiffness.
Growth problems: Growth problems can be caused by inherited diseases, too. Some people who are unusually tall or short may have an inherited condition. Even being overweight or underweight for height could be a factor, so it is smart to ask about any differences in body size when collecting family health history.
Childhood deaths: When talking to family members about family health history, ask if there were any relatives who died young and if so, whether the cause of death is known. This could sadly include infants, but it could also mean a child or adolescent. Sometimes people don’t talk openly about these terrible losses, so asking older relatives may reveal some losses that are not discussed. Other times, some family members appreciate being asked about a loss if also asked to share their emotions that accompanied that loss. For the purpose of planning for pregnancy, the cause of the death and the age of the family member who died is critical. All of these may be important when planning for pregnancy and wondering if there is any higher chance for a serious health problem in a future child.
Inherited diseases: Finally, asking directly about inherited diseases is part of family health history. It can be confusing to know what is meant by “inherited disease”. Of course, anything that runs in a family may be inherited. However, when medical professionals say “inherited disease” they are often talking about a subset of medical problems that are caused by variations in a particular gene. Some examples are conditions like cystic fibrosis, Huntington disease, sickle cell anemia, hemophilia, and neurofibromatosis, but there are too many single gene disorders to list. The important thing is to ask family members whether they have heard of anyone in the family, living or deceased, with an inherited disease, and if so what was its name and its symptoms. A genetics expert like a genetic counselor, can help assess whether the health issue is likely to pose a risk for a pregnancy. Mainstream Genomics Family Screens are one way to access a genetic counselor to review family health history when planning for pregnancy.
What should people do with the family health history after they collect it?
Genetics professionals like genetic counselors are specially trained in how to use family health history to predict the chances for inherited conditions and to know whether and what genetic testing or other medical screening might be helpful to families. In fact, studies show that about 10% of pregnancies have a genetic risk identified by a genetics professional reviewing in-depth family health history that routine prenatal care did not find.
Prenatal care providers and fertility clinics want the best for their patients. They will usually ask some basic family health history questions and offer some standard genetic testing. However, the science of genetics is changing very quickly, and it is hard to keep up. A genetic counselor monitors the changes in genetics and will therefore sometimes suggest screening or testing that other medical providers may not.
To get started, people planning for pregnancy or who are currently pregnant can take the family health history they collect and enter it into Mainstream Genomics’ Family Screens. A genetic counselor will review each case and create a Personalized Screening Plan. They also provide a version to take to a preconception care provider, fertility specialist, or prenatal care provider.
Meschede, SD and Horst, J. The practical importance of pedigree analysis in women considering invasive prenatal diagnosis for advanced maternal age or serum screening. Prenatal Diagnosis 2000.