What is Down syndrome?

Down syndrome is a genetic disorder which affects the 21st chromosome (out of the 23 pairs present in every cell). It is caused when abnormal cell division results in an extra full or partial copy of chromosome 21; hence it is also called Trisomy 21. This extra genetic material causes the birth defects, learning challenges and physical features of Down syndrome. It was first described by John Langdon Down, a British physician, in 1866 but the genetic abnormality was only confirmed in 1959. Of note, Dr. Down’s grandson was born with Down syndrome.

About 0.7% of infants are born with some form of congenital heart disease, ranging from minor defects to complex, life-threatening cardiac malformations. This prevalence is increased to about 40-60% in infants born with Down syndrome.

“My baby has already been seen by her cardiologist, so why are we seeing another cardiologist?” This is a very common question I am asked, when I consult on a child with Down syndrome and pulmonary hypertension. Most infants with Down syndrome (DS) in the current era have been diagnosed prenatally and families do know what to expect with regards to congenital heart disease, hypothyroidism, gut abnormalities etc. But pulmonary hypertension is something that really cannot be predicted with prenatal echocardiography or ultrasound scans or by any other form of routine testing.

About 50% of babies born with Down syndrome will have some form of a congenital heart defect. Congenital heart defects result from disruption of the normal development of the heart chambers, valves and/or arteries in the first three months of pregnancy. These defects are diagnosed by performing a heart ultrasound (echocardiogram) during pregnancy or shortly after birth. Babies with significant heart defects often develop clinical signs and symptoms including a heart murmur, low oxygen level (cyanosis), fast breathing, or difficulty feeding and growing.

Having your child undergo medical testing, invasive procedures, surgery, or other medical interventions can be a very frightening experience for a parent. Even as an adult, these events can induce fear and anxiety; even more so for a child and especially for a child with a disability. Children with Down syndrome often have other medical conditions that require medical attention at various points in their lives.

1. Tell us about your double surprise birth…
On Erev Sukkos, September 22, 2012, 5 minutes before the zman of Yom Tov, after a very challenging, high-risk pregnancy, which was threatened numerous times, our twin boys were born prematurely at 34 weeks. Right after they were born, the NICU team showed the babies to me and I was able to see them briefly before they were whisked away. Weighing approximately 3 pounds each, they were crying and seemed to be doing well. Nothing appeared to be suspicious…yet.