​​Down Syndrome

Down syndrome is a chromosomal condition where an atypical cell division leads to the development of an extra chromosome in the reproductive cell. This extra chromosome causes a change in the development of the brain and body.

People with Down syndrome tend to have certain distinctive facial features. They also experience some degree of intellectual disability, which can vary from mild to moderate. Down syndrome is not a disease, it is a  genetic condition and in the majority of cases, children grow up to lead healthy and productive lives. They perform their daily tasks the way other children do. ​

Down syndrome manifests itself in the following ways:

  • Flattened facial features

  • Unusually shaped or small ears

  • Upward slanting eyes

  • Single crease in the palm

  • Enlarged tongue

  • Excessive flexibility

  • Low muscle tone

Children born with Down syndrome are at an increased risk of having congenital heart disease, although these may not be apparent at the time. Other medical conditions experienced by these children may include hypothyroidism and/or a gastrointestinal tract disorder.​

Features of Down syndrome are usually identifiable at birth. If you've had your delivery at the Women's Health Care Service Line at The Aga Khan University Hospital, your doctor will recommend you to a child specialist at the Children's Hospital Service Line at The Aga Khan University Hospital. Your doctor will guide you through your child's condition.
Your time with your doctor maybe limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.

There are several screening and diagnostic tests that a pregnant woman can undertake to determine if the unborn child has Down syndrome.

Screening Tests

  • Blood tests are conducted to measure the levels of PAPP-A (Pregnancy-associated Plasma Protein-A) and the pregnancy hormone known as HCG (Human Chorionic Gonadotropin). Abnormal levels of PAPP-A and HCG may indicate prevalence of Down syndrome in the foetus.

  • Ultrasounds may be conducted to measure a specific area on the back of your baby's neck. This is known as a nuchal translucency screening test. If chromosomal abnormalities are present, more fluid than usual tends to collect in this neck tissue.

  • Integrated testing is done twice throughout the pregnancy. The results are then combined to assess the probability of Down syndrome. Part one includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency, during the first trimester of pregnancy. The quad screen in the second trimester,  measures your blood level of four pregnancy-associated substances: alpha fetoprotein, estriol, HCG and inhibin A.

Diagnostic Tests

If your screening tests indicate a higher probability of the foetus having Down syndrome, the following tests can be conducted to confirm the diagnosis.

  • Amniocentesis is a test in which amniotic fluid surrounding the foetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyse the chromosomes of the foetus.

  • CVS (Chorionic Villus Sampling) is a test in which cells are taken from the placenta and used to analyse the foetal chromosomes.

  • Cordocentesis, also known as percutaneous, is a test in which foetal blood is taken from a vein in the umbilical cord and examined for chromosomal abnormalities.

Test for Newborns
A test is conducted after birth as well to confirm if your child has Down syndrome. The distinctive facial features can be present in a child who may not have Down syndrome. This test is known as chromosomal karyotype. Using a sample of blood, this test analyses your child's chromosomes. If there's an extra chromosome present in all or some cells, your child has Down syndrome.

Early counselling of children with Down syndrome , particularly, in the first three years after birth can help them realize their potential, boosting their self-esteem and can help in improving the overall quality of life for the children, their parents and families.

The Aga Khan University Hospital has the first of its kind "One Stop Health Care Solution", making it easy for parents to bring their children to conveniently see different specialists at the Down Syndrome Clinic. The Clinic houses multiple specialists including paediatricians, cardiologists, ophthalmologists, ENT (Eye-Nose-Throat) specialists, nutritionists, physiotherapists and geneticists, along with others, offering a health care solution for Down syndrome patients, with all services, all under one roof.​

The Aga Khan University Hospital offers various support services to help with managing this condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the 'Important Numbers' section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments' costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the 'Important Numbers' section on the website homepage.​

The Aga Khan University Hospital (AKUH) has collaborated with the Karachi Down Syndrome Program (KDSP) to offer the first of its kind, 'One Stop Health Care Solution' making it easy for parents to bring their children to conveniently see different specialists at AKUH, in one clinic. 

The KDSP also offers support for families of individuals with Down syndrome. ​

The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.