Miscarriage - Prenatal Genetics

Redesigning care, with your safety top of mind.
Hospitals and medical offices are now permitted to see patients for all types of care, including elective surgery. We have been working hard to ensure that the hospital and physicians' practices are ready for you. Please call your provider or login to MyChart to schedule an in-person or telehealth video visit today!
Keeping You Safe
Hospitals and medical offices are now permitted to see patients for all types of care, including elective surgery. We have been working hard to ensure that the hospital and physicians' practices are ready for you. We have redesigned the way we provide care with your safety in mind.We will continue to offer telehealth video visits for anyone who prefers that option. However, we want to reassure you that we are taking the necessary steps to protect your safety when you need to come to the hospital, a primary care office, or one of our specialty practices.
Some of the measures GBMC Health Partners is taking to protect patients include:
- GBMC Health Partners is seeing patients in person and via telehealth video visits. Using video visits allows you to talk with your doctor without leaving home. This reduces the number of patients coming through the office and decreases the potential for inadvertent exposure of patients and staff to COVID-19. Thus, in-person visits can be done safely for those who need them. We encourage you to utilize MyChart for your telehealth needs, and you can also call your doctor if you need help. We are ready to assist you.
- Extensive cleaning of all work spaces and patient areas is performed between encounters and throughout the day.
- Temperature screening stations are in place at hospital entrances and in our practices. All patients, providers, and staff members have their temperature checked upon arrival and must wear masks (along with other appropriate personal protective equipment "PPE" if necessary).
- All patients are asked COVID-19 screening questions when they make their appointment and again when they arrive. Patients are given specific appointment times to limit the number of people in the offices at one time, and are kept in private exam rooms during their visits.
- To allow for safe distancing, our office hours may be adjusted during this time, and offices themselves have been rearranged. In certain locations, there may be physical barriers in place, and in some cases, family members may be asked to wait in their vehicles. A family member or friend may accompany a patient if it is medically necessary for the patient, or if the patient is a minor.
- All surgical patients are tested for COVID-19 pre-operatively.
- COVID-19 positive patients and patients under investigation (PUIs) who require hospital admission are sequestered in the hospital. Outpatients who are COVID-19 positive or PUIs are encouraged to utilize telehealth video visits to determine whether in-person care is needed.
Miscarriage is the loss of a pregnancy before 20 weeks gestation. There are many reasons for pregnancy loss. In many cases, no cause for past miscarriage(s) is identified. Most causes of miscarriage are not under our control. It is important to remember that women who have a miscarriage(s) still have a good chance for a successful future pregnancy.
Approximately 50% of first trimester miscarriages are due to a chromosome abnormality in the fetus. Chromosomes are the inherited structures in the cells of our bodies. A baby has two copies of every chromosome — one inherited from the mother in the egg, and the other inherited from the father in the sperm. Each chromosome holds hundreds to thousands of genes, which are responsible for growth and development. An extra chromosome or a missing chromosome can cause miscarriage, usually in the first or second trimester of pregnancy, or can lead to a child with learning difficulties or intellectual disability and birth defects. Once a couple has had a pregnancy affected by a chromosome abnormality, there is a slightly greater chance for their future pregnancies to be affected with chromosome abnormalities. In some cases prenatal diagnosis, such as chorionic villus sampling (CVS) or amniocentesis, are offered in future pregnancies.
Inherited Chromosomal Rearrangements:
An inherited variation with the chromosomes can also cause miscarriage. A parent can have a rearrangement of his or her chromosomes, in which the chromosomes are structured differently. The parent should have no health problems because, although his or her chromosomes are rearranged, they are balanced - that is, there are no missing or extra pieces of the chromosomes. However, because of the way the chromosomes are passed from parent to child, the baby may inherit extra or missing pieces of a chromosome. Extra and missing genetic material lead to "chromosomal imbalance" and can cause intellectual disability and birth defects in a liveborn or cause a miscarriage. For couples who have had multiple miscarriages, the chance that one of the parents has a chromosomal rearrangement is approximately 3-6%. While parents who carry chromosomal rearrangements are at increased risk to have further miscarriages or babies born with health problems, they can also produce healthy children. Chromosome studies can be performed on parents' blood to see if either parent is a carrier of a chromosomal rearrangement.
Gene Mutation:
Another genetic cause of miscarriage is a change (mutation) in one or more genes on the chromosomes. This can cause specific genetic diseases or birth defects. Mutations can occur spontaneously in pregnancies or can be inherited from parents who themselves are healthy. Birth defects associated with these conditions can sometimes be detected during pregnancy by a sonogram. If there is a history of a specific disorder in a parent or family member, single gene disorders can be tested for prenatally in some cases.
Environment:
Another cause of pregnancy loss is an environmental exposure during pregnancy. For example, exposure to drugs, alcohol, or high levels of radiation can lead to miscarriage. Infections can cause miscarriage. The risk of miscarriage may be greater in women who smoke.
Remember, even when repeated miscarriages occur, there is a good chance of success next pregnancy.
Genetic Causes
Fetal Chromosomal Abnormalities:Approximately 50% of first trimester miscarriages are due to a chromosome abnormality in the fetus. Chromosomes are the inherited structures in the cells of our bodies. A baby has two copies of every chromosome — one inherited from the mother in the egg, and the other inherited from the father in the sperm. Each chromosome holds hundreds to thousands of genes, which are responsible for growth and development. An extra chromosome or a missing chromosome can cause miscarriage, usually in the first or second trimester of pregnancy, or can lead to a child with learning difficulties or intellectual disability and birth defects. Once a couple has had a pregnancy affected by a chromosome abnormality, there is a slightly greater chance for their future pregnancies to be affected with chromosome abnormalities. In some cases prenatal diagnosis, such as chorionic villus sampling (CVS) or amniocentesis, are offered in future pregnancies.
Inherited Chromosomal Rearrangements:
An inherited variation with the chromosomes can also cause miscarriage. A parent can have a rearrangement of his or her chromosomes, in which the chromosomes are structured differently. The parent should have no health problems because, although his or her chromosomes are rearranged, they are balanced - that is, there are no missing or extra pieces of the chromosomes. However, because of the way the chromosomes are passed from parent to child, the baby may inherit extra or missing pieces of a chromosome. Extra and missing genetic material lead to "chromosomal imbalance" and can cause intellectual disability and birth defects in a liveborn or cause a miscarriage. For couples who have had multiple miscarriages, the chance that one of the parents has a chromosomal rearrangement is approximately 3-6%. While parents who carry chromosomal rearrangements are at increased risk to have further miscarriages or babies born with health problems, they can also produce healthy children. Chromosome studies can be performed on parents' blood to see if either parent is a carrier of a chromosomal rearrangement.
Gene Mutation:
Another genetic cause of miscarriage is a change (mutation) in one or more genes on the chromosomes. This can cause specific genetic diseases or birth defects. Mutations can occur spontaneously in pregnancies or can be inherited from parents who themselves are healthy. Birth defects associated with these conditions can sometimes be detected during pregnancy by a sonogram. If there is a history of a specific disorder in a parent or family member, single gene disorders can be tested for prenatally in some cases.
Maternal Health Issues:
Other reasons for pregnancy loss are related to maternal health. An abnormally shaped uterus can lead to pregnancy loss. Health problems such as hormonal imbalance, poorly-controlled diabetes, lupus and other immune system abnormalities, kidney and heart disease, and hypertension can create difficulties in carrying a pregnancy to term. These causes of miscarriage can be evaluated by blood tests and an ultrasound examination (sonogram) of the uterus. Your doctor can evaluate you for these problems.Environment:
Another cause of pregnancy loss is an environmental exposure during pregnancy. For example, exposure to drugs, alcohol, or high levels of radiation can lead to miscarriage. Infections can cause miscarriage. The risk of miscarriage may be greater in women who smoke.
Remember, even when repeated miscarriages occur, there is a good chance of success next pregnancy.
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