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Dr. Rahul Kr Raghav

Geneticist, gurgaon

500 at clinic
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Dr. Rahul Kr Raghav Geneticist, gurgaon
500 at clinic
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Personal Statement

I believe in health care that is based on a personal commitment to meet patient needs with compassion and care....more
I believe in health care that is based on a personal commitment to meet patient needs with compassion and care.
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Hindi

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My sisters double marker shows positive. Downs syndrome 1: 198 possibility. She is 29 years old. Doctors have told her to undergo CVS and amniocentesis tests. All other features of the foetus are normal. Please suggest if the baby would be normal or there is 50-50 chances of downs syndrome. Nobody else in the family has this. 2 months aho she had a spontaneous miscarriage plus she has hypothyroid which is normal now. She is now four months pregnant.

MBBS, MD - Psychiatry, MBA (Healthcare)
Psychiatrist, Davanagere
My sisters double marker shows positive. Downs syndrome 1: 198 possibility. She is 29 years old. Doctors have told he...
It is very hard to tell if the child will have down's syndrome or not. It is only time that will tell and for that matter of fact, it is only chance and please think positively about the situation. The chances are very less and even if it turns out to be so, downs kids are trainable. I hope this helps. Take care and have a lovely day!
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Can you please help in interpreting Perkin Elmer & NT Scan Test results. Down Syndrome Final Risk- 1: 55129. Edwards' Syndrome Final Risk-1: 10. Patau's Syndrome Final Risk-1: 10.

PHD - Science
Geneticist, Mumbai
Can you please help in interpreting Perkin Elmer & NT Scan Test results. Down Syndrome Final Risk- 1: 55129. Edwards'...
For Edward syndrome (Trisomy 18) and Patau syndrome (Trisomy 13) there is high risk. Hence you will have to do Amniocentesis to rule out the risk.
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I'm getting married soon. I'm 33 years old. So I fear about the risk of Down's syndrome. I read that taking folic acid early would reduce the risk. I want to know if that is true and the dosage of folic acid to be taken.

MBBS Bachelor of Medicine and Bachelor of Surgery
General Physician, Raigad
I'm getting married soon. I'm 33 years old. So I fear about the risk of Down's syndrome. I read that taking folic aci...
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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Down Syndrome - How It Should Be Dealt With?

MBBS, MD-Pediatrics, DM - Medical Genetics
Geneticist, Gurgaon
Down Syndrome - How It Should Be Dealt With?

Down Syndrome is a genetic disorder resulting from chromosomal aberration. Usually, a person is born with 23 pairs of chromosomes (46 chromosomes in total). In the case of a Down Syndrome, there is a total of 47 chromosomes (an extra complete or partial chromosome appearing in the 21st pair). This extra chromosome is the main wrecker in chief that triggers the behavioral and developmental alterations characteristic of Down Syndrome.

Depending on the distribution of the chromosome during cell division, Down Syndrome may be triggered by three conditions

  • Trisomy 21: One of the most common causes of Down Syndrome, Trisomy 21 is characterized by the presence of an extra chromosome in chromosome 21.
  • Translocation Down syndrome: As the name suggests, here a part of the chromosome 21 translocates itself to some other chromosome. There will be no trisomy on chromosome 21. However, there will be extra genetic material resulting from the chromosome containing the translocated portion of chromosome 21.
  • Mosaic Down Syndrome: This is a rare condition where some cells will have 46 chromosomes (23 pairs) while few others will have 47 chromosomes (trisomy 21).

Symptoms characteristic of Down Syndrome
Some of the symptoms synonymous to Down Syndrome include

  • The face appears flattened with a short mouth and a protruding tongue.
  • The ears, neck, arms, and legs are shorter than usual.
  • Children and adults with Down Syndrome usually have a short stature.
  • The muscles also lack proper tone.
  • Children with Down Syndrome are often found to have impaired cognitive ability. The condition also affects the memory, both short, as well as long-term.

Managing a child with Down Syndrome
No parent would ever want their child to suffer from Down Syndrome. Along with the medications and therapies, as a parent, you should also be prepared to manage the situation well.

  • The situation is by no means easy for you, but if you get weak or panic, things will only go from bad to worse. Thus, you need to be strong.
  • Be in constant touch with the attending physician to know the progress of your child.
  • If your child is still very young, get them enrolled in the special enhancement programs. These programs play a significant role in improving the language, motor movements, as well as developing the various self-help skills in the Down Syndrome children.
  • Connect with families dealing with identical situations. Discussing your problems with them or learning about theirs can help in better management.
  • Your concern for the child is understood but do not snatch their independence. Give them the freedom they deserve. They might make mistakes, but it will help build their confidence.
  • If the situation demands, get your child admitted to schools which are specially designed for such children.
  • Do not keep your child confined within the four walls of the home. Take them outside. Let them interact with people. Indulge in family outings and get-togethers.
  • The situation may be difficult but not impossible. Have faith and do what is in your hands.

In case you have a concern or query you can always consult an expert & get answers to your questions!

3057 people found this helpful

My Son Age 1.2 years suffering from Mild Stage of down Syndrome and have effect of growing late is dere any treatment homeopathic or alopathic which make his life very near to normal growth.

MBBS, Diploma in Psychological Medicine, MD - Psychiatry
Psychiatrist, Chennai
Down's Syndrome is a chromosomal disorder (impairment in genetic/chromosome function) which is confirmed by karyotype/genetic labs-study, parents require genetic counselling, IQ/psychological/developmental tests-periodical follow up-with child specialists, psychiatrists, psychologists, special education, training as may be required
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Hi sir, What does trisomy 21 (down syndrome) risk 1 :92 means my wife age is 32 but her tab scans shows no abnormalities. Please give opinion.

MD - Ayurveda, Bachelor of Ayurveda, Medicine and Surgery (BAMS)
Ayurveda, Bangalore
Hi sir, What does trisomy 21 (down syndrome) risk 1 :92 means my wife age is 32 but her tab scans shows no abnormalit...
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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Hello doctor I have done my quadruple screen test it shows The calculated risk for Trisomy 21 is above the cut off which represents an increased risk. My nt scan is gud there is not any problem. My doctor suggested me to do amniocentesis test. I'm so tensed that can I go for this test or not. What will I do I just dont understand.

MBBS, MD-Pediatrics, DM - Medical Genetics
Geneticist, Gurgaon
Hello doctor I have done my quadruple screen test it shows The calculated risk for Trisomy 21 is above the cut off wh...
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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I have down syndrome with trisomy 14/21, can tell me risk about these. One baby is died after 28 days she is positive in down syndrome. Again when I was conceived the chrosome test is done and it is again positive .please help me.

MBBS
General Physician, Mumbai
I have down syndrome with trisomy 14/21, can tell me risk about these. One baby is died after 28 days she is positive...
Its a genetic defect and nothing can be done to cure it but I will suggest you to accept whatever it is and even the child can live longer
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Down's Syndrome in Children

MBBS, MD, Registrar, DNB, MNAMS
Gynaecologist, Delhi
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Here are reasons, effects, screening and diagnosis of down's syndrome in children

3126 people found this helpful

Hi, please suggest a diet for 2 years baby boy. His weight is 9 kgs. He has Down syndrome. He had a heart surgery but now ut is totally curried. His muscle tone is very poor. So please suggest a good diet plan Thanks.

MBBS, MD-Pediatrics, DM - Medical Genetics
Geneticist, Gurgaon
Hi, please suggest a diet for 2 years baby boy. His weight is 9 kgs. He has Down syndrome. He had a heart surgery but...
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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