Every parent wants to have a healthy baby. At Colorado Fetal Care Center, we are here to help you understand, plan and make decisions about your pregnancy. Children’s Hospital Colorado genetic counselors can help you find answers and ensure the best possible outcome for your family.
Genetic Testing In Prenatal Care For Fetal Health Assessment
If you’ve been diagnosed with a high-risk pregnancy or want to learn more about your chances of dying from a genetic disorder, our hospital in Aurora, Colorado offers complete comprehensive genetic testing for parents, mothers and for babies.
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Each pregnancy has a 3% to 5% risk of identifying a birth defect or genetic condition. Although all babies have a small chance of having a genetic condition, some pregnancies have a higher risk than others. Two reasons a pregnancy may be considered high risk are advanced maternal age (a mother is 35 or older) and a family history of birth defects or genetic conditions. In this case, your doctor may recommend genetic screening or a diagnostic test.
Although no test can guarantee a healthy baby, some genetic tests can provide families with additional information and reassurance during pregnancy.
There are two types of genetic testing: screening and diagnostic testing. Each provides different information about the pregnancy and the risk that the baby will inherit or develop certain conditions or chromosomal abnormalities.
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Although these terms are often used interchangeably, they are interpreted differently and provide different details about the pregnancy.
As with any pregnancy, the choice to pursue screening or genetic testing is a personal decision based on your values and goals. Our experts will answer your questions so you can make an informed decision. We will support any decision you make, including choosing not to be screened or tested.
We use several types of genetic screens in the prenatal period. Expand the windows below to learn about each test.
Prenatal Care And Tests
Cell-free DNA screening (also called non-invasive prenatal screening and abbreviated as NIPT or NIPS) is a screen used to determine if a pregnancy is at increased risk for specific specific chromosomal conditions. This test does not analyze every possible problem.
Newer versions of cell-free DNA (cfDNA) screens may include screening across all 23 pairs of chromosomes, the molecules that carry our body’s instructions for growth and development. These screens look for extra or missing chromosomes as well as large deletions or duplications of genetic material.
In addition, selected microdeletions and some single gene disruptions, as outlined below, can also be included in a cfDNA screen. You should discuss this option with a genetic counselor before ordering advanced screening.
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Cell-free DNA screening cannot predict whether a birth defect (such as a heart defect) will be present in a future ultrasound.
Geneticists perform a cell-free DNA test by taking a blood sample from the mother. This non-invasive screen analyzes DNA fragments from the bowel, which circulate in the mother’s blood. Geneticists use these DNA fragments to determine whether there is any extra or missing genetic material to help estimate the risk of certain genetic syndromes.
Cell-free DNA test results are usually available 7 to 10 days after your visit and blood draw.
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Because this screen is non-invasive, there is no risk to the mother or baby outside of normal tissue (very low risk).
In the event of a positive (abnormal) screening result, a genetic counselor will discuss with you what these results mean and the next steps. We usually recommend further evaluation, including a detailed ultrasound (level two). Your genetic counselor will also review diagnostic testing options such as chorionic villus sampling (CVS) and amniocentesis (continued below).
Maternal serum screening helps doctors determine if a pregnancy is at increased risk for certain chromosomal conditions and birth defects. Maternal serum screening is becoming less common due to the availability and increased detection rates of cell-free DNA screening. This test does not analyze all the problems that may occur during pregnancy.
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In addition to neural tube defects, maternal serum screening cannot predict whether a birth defect, such as a heart defect, will be present in a future ultrasound.
Genetic specialists screen maternal serum through non-invasive ultrasound and maternal blood testing. Blood tests analyze certain hormones produced by the placenta and the fetus that are present in the mother’s blood. Your doctor will also do an ultrasound to collect a nuchal translucency (NT) measurement, which measures the amount of fluid in the back of a baby’s neck. A large NT (greater than 3 millimeters) increases the risk of genetic syndromes, heart defects or other birth defects.
Because this screen is non-invasive, there are no risks to the mother or baby beyond the risks of a normal blood draw and ultrasound. This means that the risk is very low.
Prenatal Genetic Screening
In the event of a positive (abnormal) screening result, we will walk you through the results and discuss next steps. Usually, we recommend further evaluation, including a detailed level of ultrasound. Your genetic counselor will also review diagnostic testing options including chorionic villus sampling (CVS) and amniocentesis (continued below).
Everyone is a carrier for different genetic conditions. A carrier is someone who has a genetic mutation (normal change) in one of the two copies of a particular gene, located on our chromosomes. A carrier of a genetic condition usually has no signs or symptoms because they have a working copy of both genes.
When both parents carry the same genetic syndrome, each parent can pass on the mutated (non-working) gene to the child. This means that the child has no working copy of that specific gene, which causes the symptoms of a genetic syndrome. There is concern about pregnancy when both the mother and her partner are carriers of a particular genetic syndrome, as the chances of the child getting the syndrome are higher.
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Carrier screening can help an individual or couple determine if they are carriers of a recessive genetic disease such as cystic fibrosis. (About 1 in 25 people are a carrier for cystic fibrosis.) The results provide information about your reproductive risk and whether you may have a higher chance of having a child with a genetic condition. If your reproductive risk is higher, you may need more care during pregnancy.
If a woman and her partner are both carriers for the same recessive condition, each child has a 1 in 4 (25%) chance of having the disease.
Some less common genetic syndromes, with more complex inheritance patterns, may have a higher or lower risk than 1 in 4. Your genetic counselor will review this information in detail if you are a carrier of one of these syndromes.
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Some couples have a higher chance of being carriers for the same condition, such as people from certain ethnic backgrounds, people with a common ancestor or people with a family history of a genetic condition.
Carrier screening can help genetic counselors determine if there is an increased chance of having a child born with certain recessive genetic syndromes such as the following (and many others):
We can perform carrier screening before or during pregnancy. Some parents may decide to have their insurance company screened as part of their family planning. (For example, if they have a personal or family history of genetic defects or conditions, such as a heart defect.) Others may choose to get carrier screening during pregnancy.
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To carry out carrier screening, our genetic counselors will collect a blood sample from either mother or father, or both.
Carrier screening is available before or during pregnancy to help determine if a couple is at increased risk of having a child with certain genetic conditions.
Carrier screen results are usually available 14 to 21 days after your visit and blood draw.
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Carrier screening can determine whether a mother (or couple) has an increased risk of her children inheriting certain genetic conditions.
Carrier screening does not provide information about the risk of chromosomal disorders, such as Down syndrome, or adult-onset conditions, such as Alzheimer’s disease. If you are concerned about your risk for a chromosomal condition during your pregnancy, you may consider cell-free DNA screening or maternal serum screening in addition to carrier screening.
If the results show that your children are at increased risk, a genetic counselor can help you understand your results and discuss your reproductive options. These options may include assisted reproductive technology, prenatal diagnosis through chorionic villus sampling (CVS) or amniocentesis, or counseling to prepare for the birth of a child with a genetic condition.
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There are two types of diagnostic tests that a mother can receive during pregnancy: chorionic villus sampling (CVS) or amniocentesis. These prenatal tests can help doctors determine a baby’s health while in utero (in the womb).
Although both CVS and amniocentesis are used to diagnose genetic conditions and birth defects, these procedures are performed differently and at different times during pregnancy.
Both CVS and amniocentesis have a low risk of miscarriage of less than 1%. Statistics speak, the odds are in
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