How is Down syndrome managed in Singapore?

Management of Down syndrome (DS) in Singapore starts as early as 11 weeks of pregnancy through a screening process that involves an ultrasound alone or in combination with a blood test.

In particular, a clinical care path has been laid out by the KK Women’s and Children’s Hospital (KKH) to help a child with DS achieve full developmental potential, which is dependent on prompt treatment of medical complications, family support, and early establishment of intervention programs.

Tailored recommendations such as this will help serve the local population better given that the prevalence of different morbidities can be region-specific even though most comorbidity characteristics are common for DS, according to the authors of the clinical guideline for DS in Singapore, led by Dr Kavitha Sothirasan from KKH. [Proc Singap Healthc 2022:doi:10.1177/20101058221104582]

“The presence of evidence-based guidelines support[s] the physician both in the community and in restructured hospitals to provide timely and appropriate management recommendations,” the authors said. “It will also aid in counselling parents and caregivers.”

Clinical care path

Apart from ultrasound and blood tests during the first trimester, a noninvasive pregnancy test is also offered to mothers, wherein foetal cells from the blood are extracted and analysed for chromosomal defects. This test boasts the highest detection rate of 99 percent.

If test results show that the baby is at high risk for aneuploidy, physicians will offer a chorionic villus sampling or amniocentesis for confirmation, following the advice of a genetic counsellor.

At 20 weeks of pregnancy, another ultrasound scan is conducted. Any suspicion of structural anomalies will prompt the specialist to verify the findings. Relevant medical or surgical experts will then be involved in the family conference, as well as the support of a medical social worker (MSW).

“Comprehensive birth plans must be in place should parents decide to continue the pregnancy,” the authors said. “In the event they choose to terminate the pregnancy, they should get the necessary support.”

When there is any clinical suspicion of DS or a definitive antenatal diagnosis has not been established, postnatal karyotyping is then conducted. The baby will be admitted to a level 2 care facility for further monitoring and assessment, including haematological and radiological tests for possible comorbidities, as well as a thorough physical examination. [Pediatrics 2011;128:393-406]

DS diagnosis

Once a diagnosis of DS has been confirmed, a family conference will be held while the infant is still inpatient. Physicians at KKH will then explain and discuss the overall care plan until adulthood with the family. Emphasis is given on the need for continued follow-up with the primary team, ophthalmologist, otolaryngologist, subspecialty teams, and therapists.

The first visit at a specialty clinic is made within 4‒6 weeks of hospital discharge, during which feeding and growth assessments are done, and routine vaccinations can be administered. The child may then be referred to the community Early Intervention Programme for Infants and Children (EIPIC) program, but parents can choose to enrol their child in private intervention centres or home-based therapies.

“Either choice will be supported and the child’s progress monitored by the primary team of doctors,” the authors said. “Once the child has secured a place for intervention, they are advised to continue therapies until school placement.”

In addition, a psychological assessment is conducted to provide adequate recommendations for school placement and to potentially exclude underlying behavioural disorders, such as autism.

Emotional and financial support

The MSW plays a crucial part in this clinical care path for DS by providing emotional support and assistance with resources for financial aid, if needed, to the family.

“The MSW usually helps to facilitate enrolment into the EIPIC centres during infancy and coordinate school placement at 5–6 years of age,” the authors said. “They play an important role in introducing families to various community services like the Down Syndrome Association of Singapore, Family Service Centre, and Social Service Centre.”

Annual medical surveillance of the child continues until 18 years of age, then the process of transition to adult care is initiated.

“Referral to the KKH DS clinic can be via a written referral from any polyclinic or private clinic in Singapore,” the authors noted.