Seminars in Perinatology. Also, different stages of life may require different services. Prenatal genetic diagnostic tests. Accessed Dec. 16, 2016. Ostermaier KK. Ostermaier KK. See our safe care and visitor guidelines, plus trusted coronavirus information. Accessed Dec. 16, 2016. The NIPT test is a first trimester screening test that can look for increased risk of Down syndrome and other chromosomal abnormalities. After birth, the initial diagnosis of Down syndrome is often based on the baby's appearance. Your health care provider can help you weigh the pros and cons of these tests. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/default.aspx. This information may help you decide whether to undergo diagnostic testing. Results of the test for Down syndrome and trisomy 18 usually take one to two weeks. This site complies with the HONcode standard for trustworthy health information: verify here. https://ghr.nlm.nih.gov/condition/down-syndrome. Results for the test for open neural tube defects usually take five to seven days. 7th ed. When you learn your child has Down syndrome, you may experience a range of emotions, including anger, fear, worry and sorrow. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic. Pregnancy. Screening tests provide you with a ratio that expresses your baby's chances of having Down syndrome, based on your test results and how old you are. Butler Tobah YS (expert opinion). Screening tests include the first trimester combined test and the integrated screening test. What is Down syndrome? FISH results usually take two days. The results are combined to estimate the risk that your baby has Down syndrome. © 1998-2020 Mayo Foundation for Medical Education and Research (MFMER). Mayo Clinic does not endorse companies or products. American College of Obstetricians and Gynecologists. Most people with Down syndrome live with their families or independently, go to mainstream schools, read and write, participate in the community, and have jobs. Centers for Disease Control and Prevention. Down syndrome. Because each child with Down syndrome is unique, treatment will depend on individual needs. Genetic screening and prenatal genetic diagnosis. Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease. This combines the result of the NT scan with the result of blood tests for PAPP-A and beta-hCG to give the risk of the baby having Down's syndrome. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. Screening for fetal aneuploidy. Mayo Clinic is a not-for-profit organization. A single copy of these materials may be reprinted for noncommercial personal use only. Mayo Clinic, Rochester, Minn. Jan. 26, 2017. Facts about Down syndrome. In: Obstetrics: Normal and Problem Pregnancies. The best antidote for fear and worry is information and support. The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age. This content does not have an English version. If a previous pregnancy with Down’s syndrome or is reported, the result will be classified as ‘screen-positive’ regardless of the level of the screening markers so that further testing can be discussed with the woman. The role of the family physician in the care of children with Down syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Make a donation. 2014;90:851. A higher-chance result does not mean the baby definitely has Down's syndrome, Edwards' syndrome or Patau's syndrome. Accessed Dec. 22, 2016. Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. National Down Syndrome Society. http://www.uptodate.com/home. Build a team of health care providers, teachers and therapists you trust. https://www.acog.org/-/media/For-Patients/faq164.pdf?dmc=1&ts=20161216T1208042192. Genetics Home Reference. All rights reserved. Rink BD, et al. Fewer than 1 in 20 results will be higher chance. Your health care provider can discuss the types of tests, advantages and disadvantages, benefits and risks, and the meaning of your results. Down syndrome: Management. Although screening tests can only identify your risk of carrying a baby with Down syndrome, they can help you make decisions about more-specific diagnostic tests. Bunt CW, et al. You may not know what to expect, and you may worry about your ability to care for a child with a disability. http://www.uptodate.com/home. Screening for Down syndrome is offered as a routine part of prenatal care. National Down Syndrome Society. American Family Physician. 2. If your screening test results are positive or worrisome, or you're at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. Depending on your child's particular needs, your team may include some of these experts: You'll need to make important decisions about your child's treatment and education. http://www.uptodate.com/home. Advertising revenue supports our not-for-profit mission. Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Continuous Professional Development, Mayo Clinic School of Graduate Medical Education, Book: Mayo Clinic Family Health Book, 5th Edition, Newsletter: Mayo Clinic Health Letter — Digital Edition, FREE book offer – Mayo Clinic Health Letter. The two main screening tests used for Down's syndrome using the above methods are: Combined screening test. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Consider these steps to prepare yourself and to care for your child: Expect a bright future. But the features associated with Down syndrome can be found in babies without Down syndrome, so your health care provider will likely order a test called a chromosomal karyotype to confirm diagnosis. Down syndrome: Clinical features and diagnosis. Accessed Dec. 16, 2016. A rapid technique for the diagnosis of Down syndrome and trisomy 18, fluorescence in situ hybridization (or FISH), is available at Women & Infants. Accessed Dec. 16, 2016. Using a sample of blood, this test analyzes your child's chromosomes.