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If a screening test suggests the likelihood of Down syndrome, a diagnostic test can be performed. ACOG recommends that pregnant women of all ages be given the option of skipping the screening test and getting a diagnostic test first. Until recently, only women over age 35 and other at-risk women were offered this option because diagnostic tests carry a slight risk of miscarriage.1 Before having diagnostic testing, a pregnant woman and her family may want to meet with a genetic counselor to discuss their family history and the risks and benefits of testing in their specific situation.
Diagnostic testing for Down syndrome involves removing a sample of genetic material. After it is removed, the sample is checked for extra material from chromosome 21, which may indicate that a fetus has Down syndrome. Parents typically recieve the results within a week or two. The following procedures are used to extract samples.
Amniocentesis (pronounced am-nee-oh-sen-TEE-sis). A health care provider takes a sample of amniotic (pronounced am-nee-OT-ik) fluid, which is then tested for the extra chromosome. This test cannot be done until the 14th to 18th week of the pregnancy.
Chorionic villus (pronounced KOHR-ee-on-ik VIL-uhs) sampling (CVS). A health care provider takes a sample of cells from a part of the placenta (pronounced pluh-SEN-tuh), which is the organ that connects a woman and her fetus, and then tests the sample for the extra chromosome. This test is done between weeks 9 and 11 of pregnancy.
Percutaneous(pronounced pur-kyoo-TEY-nee-uhs) umbilical blood sampling (PUBS). A health care provider takes a sample of fetal blood in the umbilical cord through the uterus. The blood is then tested for the extra chromosome. PUBS is the most accurate diagnostic method and can confirm the results of CVS or amniocentesis. However, PUBS cannot be performed until later in the pregnancy, during the 18th to 22nd week.5
Prenatal diagnostic testing does involve some risk to the mother and fetus, including risk of miscarriage that ranges from less than 1% to 2%.6 If you and your family are considering prenatal diagnostic testing for Down syndrome, discuss all the risks and benefits with your health care provider.
A pregnant woman who is at risk for having an infant with Down syndrome also can have a chromosomal test using her blood. A mother's blood carries DNA from the fetus, which may show extra chromosome 21 material.3 A more invasive test then would usually confirm the blood test.
One of the best ways to begin to consider the choices [available to you after receiving the diagnosis that your baby has Down syndrome] is to speak to family members of individuals with Down syndrome through a local Down syndrome organization. In addition, there are many books and articles written by family members about their personal experiences. A message from families that is echoed again and again is that the positive impacts of having a member with Down syndrome far outweigh any difficulties or challenges that may come up.
If you have any questions about these procedures, do not hesitate to ask your doctor. It is important that you receive accurate information and understand all your options.
Right now, you are very focused on taking good care of your baby. It's importanat to remember that you must also take good care of yourself and your family as well. Doing so will keep you feeling healthy, strong and well-equipped to deal with your responsibilities as a new parent. It can also help you develop and maintain a positive frame of mind, which is necessary for meeting new challenges successfully. Here are some tips many new parents have found helpful for reducing anxiety and stress:
BE PATIENT WITH YOURSELF: The road to acceptance is a process, so give yourself time to deal with your emotional responses. Some days you might feel like you’re taking steps backward, but recognize that this doesn’t mean you aren’t making progress. If you feel it would be helpful, do not hesitate to contact a therapist. A therapist can help you find ways to cope and develop confidence in your ability to handle challenges.
BUILD A SUPPORT SYSTEM: It may be tempting to keep to yourself at this time, but doing so can result in feelings of isolation. Reach out to trusted friends or family members. This allows your loved ones to understand what you’re going through and gives them a chance to offer comfort and support. You can always let them know how much help you need or desire, and if you want time alone, don’t hesitate to say so.
PRACTICE SELF CARE: Schedule some alone time regularly, and use this time to “recharge.” Read a book, take a warm bath, go for a walk, or just watch your favorite T.V. show. Do something you enjoy and find relaxing, and let yourself enjoy it. Alone time may sound like a luxury, but it is necessary for good health and can do wonders for your productivity and mood.
TAKE CARE OF YOUR PHYSICAL HEALTH: Research shows that a healthy eating and exercise plan can reduce fatigue, irritability, and risk for certain diseases and health complications. Develop a plan that works for you and make an effort to stick to it, especially during times of high stress. Be sure to get regular medical check-ups, too.
PRACTICE “LIVING IN THE MOMENT”: While it is important to plan ahead, worrying about the future can easily lead to anxiety. Although it may be hard, try to focus only on what you can do realistically in the present. If you find yourself getting anxious about a particular situation, try this strategy:
- Identify the problem
- Research your options
- Make a decision
- Set a date in the future to evaluate how your decision is working
- In the meantime, just go with the decision you made and trust that it will work out.
DON’T LOSE SIGHT OF “THE IMPORTANT THINGS IN LIFE”: Nurture your relationships with your partner, children, friends and family. Communicate with each other, laugh, do fun things together, celebrate traditions, and be sure to spend quality time with your new baby that doesn’t focus on his or her disability. The fact that your baby has Down syndrome is life-changing, but it doesn’t change the things that are truly important in life!
DSA is not a medical provider, DSA staff and members are not medical professionals. Consult your medical care providers for all decisions about your care. Books, website and are a resource and not a substitute for good quality medical care and advice.
Have you recently learned that your baby has Down syndrome? You may be shocked by this news and feeling an array of emotions that you hadn’t expected- we want you to know, you are not alone. The members and staff of Down Syndrome Alabama are in place to be a resource to support and encourage you. There are excellent medical professionals, early intervention specialists, and experienced parents here in Central Alabama who can offer you a hopeful view of the life that lies ahead for your child and your family. (If you are a grandparent, relative or friend of a baby recently born with Down syndrome, thank you for visiting this page and please share this information with the new parents.)
The most important thing is to behold your baby – look at your baby closely – every new parent needs to get to know and bond with their newborn. Your baby is the person you named. Your baby is not Down syndrome –it does not define who they are. Who do they look like? What are his or her traits? Your baby with Down syndrome is more like other babies than different. When any baby is born, there is change at home, please take care of yourself, accept help from family and friends, and celebrate the arrival of your newest family member.
Extra patience may be needed as both mother and father, individually and as well as parent partners, process the news that their baby has Down syndrome. In the case of single parents, we understand the task of raising a child with Down syndrome can seem overwhelming but know that many single parents successfully with the resources and support of their respective communites. Time is a gift and is necessary for every parent to revision the life they had dreamed of for their baby while adjusting and embracing the new narrative for those future dreams. It may seem that the diagnosis of Down syndrome is dominating all your thoughts, conversations, and time. It may feel like everyone is talking about differences, medical issues, and challenges that lie ahead for your baby and your family – BUT - hold on to these facts:
Your family, close friends and those who know you, who were also anticipating this birth, might now be struggling with how to express their thoughts and feelings to you concerning your baby with Down syndrome. Their silence or comments may unintentionally hurt or offend you, their remarks might sound trite and their actions appear disconnected. Try to be patient; overlook their awkwardness, instead search and listen for intent and meaning. They like you may not know anything about Down syndrome and may have never met anyone with Down syndrome. Introduce them to your baby – this is their opportunity to get to know, love and adore your child. Some will show initiative to gain knowledge about babies with Down syndrome and as time passes you will inevitably become skilled at portraying Down syndrome in a positive manner to all those you encounter. Because of your baby many may become active advocates for your child and others with Down syndrome. These are the counteractions needed to wipe out the only debilitating obstacle they will face - misinformation, generalities and preconceptions which spread fallacies about individuals with Down syndrome and their lives.
You may find that meeting or talking with other parents of children with Down syndrome can be a meaningful & insightful experience. We have seen how helpful it is for new parent(s) of a child with Down syndrome to talk to willing, informed, knowledgeable, and involved parents of an older child with Down syndrome. The experiences of others will be the best resource for gaining the knowledge and understanding, they will be a genuine encourager and a wise counselor.
This is just a start as you will undoubtedly have more questions as your baby grows. Please ask questions – every question is important – not one is trivial. If we don't have the answer, we will try to find someone who does. Our organization, and many groups like us, collectively create a rich human library of knowledge, stories, methods, experiences, referrals, and solutions that you can draw upon as you discover, pursue and celebrate potential and quality of life for your child with Down syndrome.
A diagnosis of Down syndrome after birth is often based initially on physical signs of Down syndrome which include:
Not all babies with Down syndrome possess these signs so their health care provider will take a sample of blood to confirm the diagnosis. The blood sample is analyzed to determine the number of the baby's chromosomes.
Choosing a pediatrician is important: Things to consider include a pediatrician's training and experience, as well as the office location, hours, and routines. One way to find a pediatrician is to ask families of other children with Down syndrome in your area for recommendations. A pediatrician who recognizes and respects a parent’s questions, concerns and sees them as partners might be a good match for your family
Seek to be informed about health issues and care for your newborn’s wellbeing and development. There is good and helpful information in books, on the web and from other parents. Inquire and learn at your own pace; try not to get overwhelmed and aim your focus on the day to day things you can do for your little one.
A good place to start is by reviewing the Specialized Health Care Guidelines for Children with Down Syndrome by the American Academy of Pediatrics. The guidelines span the prenatal period through age 21. View the complete Health Care Information for Families of Children with Down Syndrome by the American Academy of Pediatrics.
These guidelines are based on “Health Supervision for Children with Down Syndrome” published in Pediatrics (Vol. 128, No. 2, August 1, 2011. pp. 393 - 406.) An electronic version can be accessed here.
Newborns with Down syndrome are at a higher risk for:
Doctors routinely screen for these conditions. Try not to let this list of possible health problems frighten you. Your baby may not have any of these conditions. However, should he or she happen to have one or more of these complications, know that many are treatable with medical intervention. For instance, the majority of heart conditions can be corrected through surgery.
Please let DSA know if your baby is hospitalized for any reason – DSA will notify our Heart 2 Heart Outreach Team
Feeding from the breast or bottle is one of baby’s first life experiences. Feeding your baby is a wonderful and bonding experience for both baby and parents. Breast feeding may come naturally and easy; however certain situations may lead you to choose to pump breast milk or formula for bottle feeding and in some circumstances tube feedings.
Nurture your newborn and watch your baby grow with informed healthcare. There is a tremendous amount of information available online, in books and through advice but please try not to get overwhelmed or discouraged. Enjoy each day and attend to the things you can do now. Learn from you baby and at your own pace to be knowledgeable and supportive parents.
Early Intervention is important! The concept of Early Intervention is simple. The first three years of life are a critical time in a child’s development. From birth to age 3 the most rapid and developmentally significant changes occur in basic physical, cognitive, language, social and self-help skills that lay the foundation for future progress. Children with Down syndrome typically face delays in certain areas of development which is why Early Intervention is so highly recommended.
Early Intervention can begin soon after birth and the sooner it starts the better; however, it's never too late to start. There are specific milestones in these areas of development that serve as prerequisites for the stages that follow. Early Intervention helps children with Down syndrome achieve developmental milestones on their own timetable. When charting the development of a child with Down syndrome, look at the sequence of milestones achieved, rather than the age at which the milestone is reached.
Through Early Intervention children have access to a range of services designed to maximize development, such as physical, occupational, speech, and developmental therapies. These services are mandated by a federal law called the Individuals with Disabilities Education Act (IDEA). The law requires that states provide early intervention services for all children who qualify, with the goal of enhancing the development of infants and toddlers and helping families understand and meet the needs of their children.
PHYSICAL THERAPY concentrates on motor development. Children with Down syndrome may have low muscle tone and need physical therapy to condition muscles, build strength and improve movement. Physical therapy incorporates interactive activities that foster mastery of environment - stimulating cognitive, language and social development. Physical development is dependent upon gross as well as fine motor skills and remains the underlying foundation for all future progress.
SPEECH & LANGUAGE THERAPY offers pre-speech and pre-language skills that must be acquired first sometimes even before babies begin vocalize and young children with Down syndrome begin to talk. National Down Syndrome Society identifies these as the ability to imitate and echo sounds; turn taking skills (learned through games like “peek-a-boo”); visual skills (looking at the speaker and objects); auditory skills (listening to music and speech for lengthening periods of time, or listening to speech sounds); tactile skills (learning about touch, exploring objects in the mouth); oral motor skills (using the tongue, moving the lips); and cognitive skills (understanding object permanence, and cause and effect relationships).
OCCUPATIONAL THERAPY (OT) focuses on the development of fine motor (small muscles) and self-help skills. Occupational therapy can help with abilities such as opening and closing things, picking up and releasing toys of various sizes and shapes, stacking and building, manipulating knobs and buttons, experimenting with crayons etc. Therapists also help children learn to feed and dress themselves, and teach skills for playing and interacting with other children helping to master skills for independence.
EARLY INTERVENTION THERAPY Early intervention programs often offer support, encouragement and information for parents by teaching them how to interact, meet their child's specific needs and how to enhance development at home.
An Individual Family Service Plan (IFSP) is a written plan to provide specific services for children from birth to age three, based on an in-depth assessment of the child’s needs and the needs and concerns of the family.
It contains 1) information on the child’s present level of development in all areas; 2) outcomes for the child and family; and 3) services the child and family will receive to help them achieve the outcomes.
For a more detailed summary, please visit the Special Education Guide.
The transition of children, to age 3 from Early Intervention services and support occurs in consult with the Early Intervention Provider and the parents. They will determine the child’s next placement based on personal preference and opportunities in the community. Once a child turns 3 years old, an Individualized Education Program (IEP) is put into place.