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Receiving a diagnosis of Down syndrome can be a stressful time for your family. You are being given a lot of new information and you probably have a long list of questions. All of the members of our team in the Boston Children’s Hospital Down Syndrome Program are here to help.
Down syndrome can be detected during pregnancy through prenatal tests. Down syndrome can also be diagnosed after birth with a chromosomal analysis called a karyotype.
Prenatal tests are optional tests that can be performed during pregnancy to identify a fetus’s sex, age, size and placement in the uterus. Prenatal tests also detect chromosomal conditions, congenital heart defects, and other genetic conditions.
Ideally, the best time to start thinking about prenatal tests is before conception. Although no testing can be done at that point, the doctor can look at your family’s medical history to see if you might have an increased risk for genetic conditions such as Down syndrome.
The American College of Obstetrics and Gynecologists now recommends that all women be offered prenatal testing.
Before any parent decides whether or not to get prenatal testing, it’s important to know all the options and the advantages and disadvantages of each one. The two types of prenatal tests used to detect Down syndrome are called screening tests and diagnostic tests.
The different types of screening tests include:
The combined results of blood test and ultrasound results are used to estimate the chance that the fetus has Down syndrome.
If there is a high probability result on those screening tests or if there is a higher chance of Down syndrome due to maternal age, newer tests (such as MaternaT21 or Panorama) look for fetal DNA in the maternal blood and can let you know if there is a very high probability (>99%) or very low probability (<1%) that the fetus has Down syndrome. However, these tests are not diagnostic and cannot tell you with certainty whether or not the fetus has Down syndrome.
The different types of diagnostic testing include:
Prenatal testing for associated conditions:
Diagnostic Testing after birth
Down syndrome can also be diagnosed after the baby is born:
Our Boston Children’s Hospital Down Syndrome Program works closely with the Advanced Fetal Care Center at Boston Children’s Hospital. We provide prenatal consultation with a physician from our Down Syndrome Program to help you learn more about Down syndrome and answer any questions. These sessions are confidential and family-centered. For families who are uncertain of their plans, we provide non-directive counseling, giving them a safe opportunity to gather the information they need to make an informed decision about their pregnancy.
For families with a likely or confirmed diagnosis who are continuing their pregnancy, the prenatal visit becomes the first clinical visit where we begin to plan for the baby’s future. We discuss common medical conditions, developmental issues, education, and resources in the community.
Whether or not you opt for a visit in the Advanced Fetal Care Center, we welcome you to join the clinic when the baby is born. You are also welcome to contact our Program Coordinator for more information on Down syndrome and about the Boston Children’s Hospital Down Syndrome Program.
We realize that an unexpected diagnosis of Down syndrome can leave a family with many questions and concerns and so we are happy to expedite an initial visit for you and your new baby.
At Boston Children's Hospital, we take a family-centered approach to care. From your first visit, you'll work with a team of professionals who are committed to supporting all of your family's physical and psychosocial needs, including putting you in touch with other families with a child who has Down syndrome, and connecting you to community and educational services.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”