Q: My daughter, born 2 months back, is diagnosed with Downs Syndrome with atrioventricular septal defect - PS (TOFF). Her Echo report says: ASD + AV canal defect VSD type + severe PS & IS + hypoplastic pulmonary annulus; normal diventricular function. At present she is having cynosis in the feet and hands on crying. Her oxygen saturation is 75% - 80%. At birth her weight was 3 kg and now she is 4.2 kg. What is the prognosis of this disease?

A:Potentially this disease is correctable by surgery. Because of the complicated anatomy this lesion is treated slightly later than the usual TOF. Our policy is to wait till 2 to 2.5 years. In the meantime regular follow up with saturations every three months is mandatory and if it drops below 65-70% then an interim surgery in the form of BT shunt will need to be done. Also if the baby has spells (severe cyanosis with loss of consciousness) anytime, then immediate treatment (BT shunt) is warranted. Remember that each institution has its own policy. I am basing my opinion after discussion with my surgeon. Some institutions may want to do a complete correction early. Also please understand surgery for the heart does not in any way affect the natural history of the Downs Syndrome. Proper counselling from a Geneticist is mandatory.