Top Questions on Living with Down Syndrome

Dr. Preeti SinghMBBS, Diploma in Child Health (DCH), DNB (Pediatrics)Pediatrician

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Amniocentesis is for more accurate diagnosis in patients who show high risk on double marker test. 

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If baby is just delivered then it is not possible to say if baby has down syndrome. Many times atypical facial features raises the doubt. Diagnosis can be confirmed after Specialized test, known as Karyotyping. Also few tests done on mother before delivery of a baby will help in this case. Down syndrome happens due to some fault in genes. Baby borns with different features. There is no medicine to cure it. Once baby becomes old enough then according to its abilities, he can be given occupational therapy so that baby can carry out routine work independently. They can be given education in special schools. There are many local and national and international support groups. If diagnosis is confirmed then parents may join one of the Down syndrome support group. 

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Dr. Rakesh KumarDiploma In PaediatricPediatrician

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Needs intensive care. Hydrating and insulin infusion is the treatment along with symptomatic and supportive treatment. Continuous monitoring of vitals and urine output. 

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Dr. Amit AgarwalMD - Paediatrics, MBBS, FISPN & FISPN - Pediatric NephrologyPediatrician

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Difficult to opine online without actually seeing the reports. But if reports say 100% trisomy 21 affected fetous then no point in continuing. 

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Dr. Aparna KulkarniMD - Ayurveda, Bachelor of Ayurveda, Medicine and Surgery (BAMS)Ayurveda

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Down’s syndromes is a chromosomal disorder, can be detected in early stages of pregnancy NT scan— done at the end of first trimester Quadruple blood test — in between 14-20 th week Confirms the risk of the same. 

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I think you are balanced translocation carrier for chromosome 14/21. In this case in each pregnancy you need to go for amniocentesis at 16 weeks pregnancy to diagnose whether baby has chromosomal defect or not. Or else you can go for ivf with pgs (preimplantation genetic screening) pregnancy. 

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First c, down syndrome is a rare genetic disorder. During pregnancy folic acid along with DHA helps to prevent down syndrome. So you can take it after consulting Dr. 

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Dr. Jatin SoniMBBSGeneral Physician

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Few diet tips - Not to eat fried food items and Can eat All green vegetables, moong , chana , Dal , rice etc And to apply ghee over chappati and don’t apply oil over chappati And to drink milk mixed with turmeric powder twice a day And If possible eat eggs on alternate days And If possible in breakfast eat atleast one bajra ka rotla And Eat seasonal fruit 

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Dr. Divya AgarwalMBBS, MD-Pediatrics, DM - Medical GeneticsGeneticist

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Hi, thank you for the question. The diet for a toddler with Down Syndrome would not differ much from the diet of a healthy toddler. However, because of poor muscle tone, the physical development of children with Down syndrome is delayed. They also have a tendency to gain weight. The increased weight along with poor physical activity due to decreased tone puts extra stress on muscles which further makes them weak. Hence, it is important that we take care, about keeping the diet such, that it is balanced, nutricious, less fatty so that weight can be kept towards more lean side as compared to other children of same age. 

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Dr. Divya AgarwalMBBS, MD-Pediatrics, DM - Medical GeneticsGeneticist

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Hello lybrate-user, thank you for the question. If the risk in quadruple test is above the cut off for Trisomy21, then I would suggest a confirmatory test for the same. The confirmation can be done either by Amniocentesis or by Noninvasive prenatal test (NIPt). Amniocentesis is the USG guided procedure of drawing amniotic fluid which has fetal cells. These fetal cells can be examined for fetal chromosomes. It is a 100% test. The procedure related risk of miscarriage is very less- about 1 in 500. There is not much pain. NIPT confirms Down Syndrome up to 99.6%.it is done from mother's blood and hence no risk of procedure related miscarriage. But I think if your doctor has recommended Amniocentesis, then you should go for it. We Routine ly do it. It's a 10 mins procedure and is important for confirming the Trisomy21. I hope this is helpful. 

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