Is my daughter suffering from Down's syndrome?
Q: My one-month-old daughter was shifted to intensive care unit after the second day of her birth because she was facing some respiratory problem and had a bluish appearance. A, large secundum atrial septal defect (ASD) and patent ductus arteriosus (PDA) were found in the echocardiography test. The blood test showed a haemoglobin of 21 g/dl, TLC - 13.6 /cu mm, RBC - 6.07 mill/cu mm and platelets - 94,000/cu mm. The SpO2 was 87-97%. On the basis of these reports the doctor diagnosed her with Down’s syndrome but after 3 weeks, the karyotype test indicated Turner’s syndrome (TS). The doctor feels she has no symptoms of TS and has asked for a repeat test. Her height is normal. She is not taking one side breast feed and sleeps deeply at day time so during sleep she refuses to take milk. We are feeding her mother's milk through a cup and spoon. But when she wakes up, she takes breast-feeding properly. Even after more than a month, her weight is not increasing. She also revolves her tongue frequently. Does she really have any syndrome (TS or DS)? Please advise.
A:Down's syndrome and Turners Syndrome are two different types of chromosomal disorders and usually there should not be any mistake on the analysis. However you can get this reconfirmed. All the features of Turner syndrome like small height may not be present at birth and they may manifest later on. If the childs ASD and VSD are big and causing feeding problems or difficulty in breathing, they need to be evaluated by a Pediatric Cardiologist. We need to decide if the baby needs to be on certain medications for the heart defect or would need surgical closure of these defects.