Diagnosis

The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all who are pregnant, no matter what age.

  • Screening tests can suggest the likelihood or chances that you're carrying a baby with Down syndrome. But these tests can't tell for sure whether your baby has Down syndrome.
  • Diagnostic tests can tell for sure whether your baby has Down syndrome.

Your healthcare professional can discuss the types of tests, advantages and disadvantages, benefits and risks, and the meaning of your results. If needed, your healthcare professional may recommend that you talk to a genetic counselor.

Screening tests during pregnancy

Screening for Down syndrome is offered as a routine part of care before the baby's birth, called prenatal care. Although screening tests can only tell your risk of carrying a baby with Down syndrome, they can help you make decisions about the need for diagnostic tests.

Screening tests include the first trimester combined test and the integrated screening test. The first trimester means about the first three months of pregnancy.

The first trimester combined test

The first trimester combined test is done in two steps. These include:

  • Blood test. This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Levels of PAPP-A and HCG outside the standard range may indicate a problem with the baby.
  • Nuchal translucency screening test. During this test, an ultrasound is used to measure a specific area on the back of your baby's neck. When certain conditions caused by chromosome changes are present, more fluid than usual tends to collect in this neck tissue.

Using your age and the results of the blood test and the ultrasound, your healthcare professional or genetic counselor can estimate the risk that your baby has Down syndrome.

Integrated screening test

The integrated screening test is done in two parts during the first and second trimesters of pregnancy. The results are combined to estimate the risk of your baby having Down syndrome.

  • First trimester. Part one includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.
  • Second trimester. The quad screen measures your blood level of four substances present in pregnancy: alpha fetoprotein, estriol, HCG and inhibin A.

Cell-free DNA testing

A small amount of DNA is released from the placenta into a pregnant person's bloodstream. This cell-free DNA in the blood can be examined for the extra chromosome 21 material of Down syndrome.

For those at risk of having an infant with Down syndrome, the test can be done starting at 10 weeks of pregnancy. If the test is positive, diagnostic testing is usually needed to confirm that the baby has Down syndrome.

Diagnostic tests during pregnancy

If your screening test results are positive or uncertain, or you're at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. Your healthcare professional can help you weigh the pros and cons of these tests.

Diagnostic tests that can identify Down syndrome include:

  • Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta. The cells are used to look at the baby's chromosomes. This test is usually done in the first trimester, between 10 and 14 weeks of pregnancy. The risk of pregnancy loss, called a miscarriage, from a CVS is very low.
  • Amniocentesis. A sample of the amniotic fluid surrounding the baby in the womb is withdrawn through a needle inserted into the mother's uterus. This sample is then used to look at the chromosomes of the baby. This test is usually done in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.

Couples who are being treated for infertility through in vitro fertilization (IVF) who know that they are at increased risk of passing on certain genetic conditions to their children may choose to have the embryo tested for genetic changes before it's implanted in the womb.

Diagnostic tests for newborns

A physical exam is usually enough to identify Down syndrome in an infant in the first 24 hours after birth. If your healthcare professional thinks that your infant has Down syndrome, your healthcare professional orders a test called a chromosomal karyotype to confirm the diagnosis. Using a sample of blood, this test looks at your child's chromosomes. If there's an extra full or partial chromosome 21 in all or some cells, the diagnosis is Down syndrome.

Treatment

Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. Because each child with Down syndrome is unique, treatment will depend on your child's needs. Also, as your child gets older and enters different stages of life, your child may need different care or services.

For people with Down syndrome, ongoing services, including healthcare, education and life skills support, are important throughout life. Getting routine medical care and treating issues when needed can help keep a healthy lifestyle.

Team care

If your child has Down syndrome, you'll likely rely on a team of specialists that can provide medical care and help your child develop skills as fully as possible. Depending on your child's needs, your team may include some of these experts:

  • Primary care pediatrician to coordinate and give routine childhood care.
  • Pediatric heart specialist called a cardiologist.
  • Pediatric digestive system specialist called a gastroenterologist.
  • Pediatric specialist in treating hormone-related conditions called an endocrinologist.
  • Developmental pediatrician.
  • Pediatric nervous system specialist called a neurologist.
  • Pediatric ear, nose and throat (ENT) specialist.
  • Pediatric eye doctor called an ophthalmologist.
  • Hearing professional called an audiologist.
  • Speech and language therapist called a speech-language pathologist.
  • Physical therapist.
  • Occupational therapist.

You'll need to make important decisions about your child's treatment, services and education. Build a team of healthcare professionals, teachers and therapists you trust. These professionals can help find resources in your area and explain state and federal programs for children and adults with disabilities.

You may find it helpful to look for a developmental pediatrician, a specialist with expertise about Down syndrome. Also, some areas have a child Down syndrome specialty clinic that offers a range of services in one place. These experts give special attention to needs and issues that are more common in people with Down syndrome. They can work together with your primary care professional.

Adults with Down syndrome

As your child with Down syndrome becomes an adult, healthcare needs can change. Besides general health screenings recommended for all adults, ongoing healthcare includes evaluation and treatment for conditions that are more common in adults with Down syndrome. You may choose to visit an adult Down syndrome specialty clinic, if available.

Conditions common in adults with Down syndrome include:

  • Vision and hearing problems.
  • Dental issues.
  • Low thyroid levels called hypothyroidism.
  • Diabetes.
  • Celiac disease and GERD.
  • Heart disease, stroke and high cholesterol.
  • Obesity.
  • Sleep apnea.
  • Mood and behavior changes.
  • Alzheimer's disease.
  • Bone problems, such as spine problems, arthritis and osteoporosis.

In addition to meeting health needs, caring for your adult loved one with Down syndrome includes planning for current and future life needs, such as:

  • Living arrangements.
  • Social and recreational opportunities.
  • Support programs and jobs.
  • Financial support.
  • Guardianship.

Coping and support

When you learn your child has Down syndrome, you may experience a range of emotions. You may not know what to expect, and you may not be sure of your ability to care for a child with a disability. Information and support can help ease these concerns.

Consider these steps to prepare yourself and to care for your child:

  • Ask your healthcare professional about early intervention programs in your area. Available in most states in the U.S., these special programs are for infants and young children with Down syndrome and other disabilities. They usually begin at birth until age 3. The programs help to develop motor, language, social and self-help skills. Most programs offer free screening to assess your child's abilities and needs. An Individual Family Service Plan (IFSP) is created to outline services to meet your child's needs.
  • Learn about educational options for school. Depending on your child's needs, options may include attending regular classes, called mainstreaming, support staff in regular classes, special education classes, or a combination. An Individualized Education Plan (IEP) is a detailed, written document that describes how a school system will provide education that meets your child's needs. Talk to your school district about developing an IEP for your child.
  • Seek out other families who have a family member with Down syndrome. Most communities and national organizations have support groups for parents and families of children and adults with Down syndrome. You also can find internet support groups. Family and friends can be a source of understanding and support too.
  • Participate in social and leisure activities. Take time for family outings and look in your community for social activities such as park district programs, Special Olympics, sports teams or ballet classes. These kinds of activities can help your child feel part of a team and build self-confidence. Children and adults with Down syndrome can enjoy many social and leisure activities, though some adjustments may be needed to help them take part in activities.
  • Encourage independence. Your child's abilities may be different from other children's abilities. But with your support and some practice, your child may be able to do independent tasks such as packing a lunch, bathing and dressing, cooking, house cleaning, and laundry. You might make a daily checklist of tasks to be done on your child's own. This will likely help your child feel more independent and accomplished.
  • Prepare for the transition to adulthood. Opportunities for living, working, and social and leisure activities can be explored before your child leaves school. Community living or group homes and community employment, day programs or workshops after high school require some advance planning. Ask about opportunities and support in your area.

People with Down syndrome can live fulfilling lives. Most people with Down syndrome live with their families, in supported living settings or independently. With needed support, most people with Down syndrome go to mainstream schools, read and write, make decisions, have friends, enjoy an active social life, and have jobs.

By Mayo Clinic Staff