Down syndrome

Hello All, I am new to this site. I have a question regarding pregnancy. First time I was pregnant in 2004, unfortuntly I found in 17th week, that my baby had downsyndrom. My Ex husband wanted to abort the pregnancy. Got divorced after that and recently settled again. Luckily got pregnant second time soon. But in the 7th week, end up with a miscarriage a week ago. I am very scared what if there will be another downsyndrom pregnancy or what if there is another miscarriage. I am so confuse and feel low due to this. My husband is very understanding and loving. We both love to have kids. Do you ladies know any similar case of downsyndrom pregnancy and now have healthy kids? My doctor told me there is 5% percent chances in my next pregnancy because I already had one pregnancy with downsyndrom baby and considering my age. It scares me, its hard to go through that pain again not only physically , but emotionally too. I have recently checked with Infertility specialist due to my case history. She found no problem and wants me to try again now. So, wish me luck to have a healthy baby.

dear,
i think u need to take a proper blood test of both u and ur husband, it is usually that starts from there, and if ur husband is a relative then too this problem might persist, so make a thorough chek up before u venture, yes i can understand ur depression and ache for a baby, but it is always better to have a healthy one rather than suffer the ache of watching ur baby having some shortcoming somewhere, pl do rechek with all ur blood test and find out before u venture further, all the best the medical field have come up with miracles, let me hope one for u..and pl do contact a nice doctor in this regard..sunkan

Dear,

just wanted to share the info i knew abt down syndrome. pls do not worry medicals do miracles now a days

The Genetics of Down Syndrome – Trisomy 21


Down syndrome is a genetic disorder caused by extra genetic material (DNA) (ie, presence of an extra 21st chromosome). Chromosomes, which are microscopic thread-like structures that are present in every cell of the body except red blood cells, carry genes. Genes are necessary for development. Human cells normally have 46 chromosomes that can be arranged in 23 pairs. One set of 23 chromosomes comes from the mother (egg cell or ovum) and the other half of the 23 pairs comes from the father (sperm cell).

Trisomy 21
In Down syndrome, 95% of all cases are caused by either the sperm or the egg cell having two 21st chromosomes instead of one, so the resulting fertilized egg has three 21st chromosomes. Hence the scientific name, trisomy 21. Recent research has shown that in these cases, approximately 90% of the time the abnormal cells are the eggs. The cause of the extra chromosome isn't known, but there is definitely connection with the mother's age.

Robertsonian translocation and partial trisomy 21
A different kind of genetic error occurs in 3-4% of cases of Down syndrome. In this case, the genetic material (genes carried on chromosomes) is rearranged so that some of the 13th, 14th, or 15th chromosome is replaced by an extra copy of genetic material from the 21st chromosome. The overall number of chromosomes remains normal (46 chromosomes in 23 pairs), but there are 3 copies of the 21st chromosome material. Sometimes the extra genetic material only comes from part of the long arm of the 21st chromosome (21q), and this is called partial trisomy 21.

Mosaicism and trisomy 21
Mosaicism causes the remaining cases of Down syndrome. In these cases, people have a mixture of cells (cell lines). Some cells have a normal set of chromosomes, and other cells have trisomy 21. In cellular mosaicism, the mixture is seen in different cells of the same type. In tissue mosaicism, one set of cells, such as all blood cells, may have normal chromosomes, and another type, such as all skin cells, may have trisomy 21.

kindly chk , if any of the above mentioned factors do stand a bridge between forming a healthy baby.

Good Luck

Hi, I am new to this site.

My sis - in -law has a DS daughter. After that she had two healthy children. It need not happen again.

Thank you rs18, Sunkan and Sheesha for the reply. Sheesha, you have given me little hope to look forward. I was wondering, did your sister in-law go through any treatment? Once again thank you all for your feedback.

regards

Ramya,

That's quite informative.

Originally Posted by rs18

Dear,

just wanted to share the info i knew abt down syndrome. pls do not worry medicals do miracles now a days

The Genetics of Down Syndrome – Trisomy 21


Down syndrome is a genetic disorder caused by extra genetic material (DNA) (ie, presence of an extra 21st chromosome). Chromosomes, which are microscopic thread-like structures that are present in every cell of the body except red blood cells, carry genes. Genes are necessary for development. Human cells normally have 46 chromosomes that can be arranged in 23 pairs. One set of 23 chromosomes comes from the mother (egg cell or ovum) and the other half of the 23 pairs comes from the father (sperm cell).

Trisomy 21
In Down syndrome, 95% of all cases are caused by either the sperm or the egg cell having two 21st chromosomes instead of one, so the resulting fertilized egg has three 21st chromosomes. Hence the scientific name, trisomy 21. Recent research has shown that in these cases, approximately 90% of the time the abnormal cells are the eggs. The cause of the extra chromosome isn't known, but there is definitely connection with the mother's age.

Robertsonian translocation and partial trisomy 21
A different kind of genetic error occurs in 3-4% of cases of Down syndrome. In this case, the genetic material (genes carried on chromosomes) is rearranged so that some of the 13th, 14th, or 15th chromosome is replaced by an extra copy of genetic material from the 21st chromosome. The overall number of chromosomes remains normal (46 chromosomes in 23 pairs), but there are 3 copies of the 21st chromosome material. Sometimes the extra genetic material only comes from part of the long arm of the 21st chromosome (21q), and this is called partial trisomy 21.

Mosaicism and trisomy 21
Mosaicism causes the remaining cases of Down syndrome. In these cases, people have a mixture of cells (cell lines). Some cells have a normal set of chromosomes, and other cells have trisomy 21. In cellular mosaicism, the mixture is seen in different cells of the same type. In tissue mosaicism, one set of cells, such as all blood cells, may have normal chromosomes, and another type, such as all skin cells, may have trisomy 21.

kindly chk , if any of the above mentioned factors do stand a bridge between forming a healthy baby.

Good Luck

Hi Amicable,
Don't be afraid to get pregnant again. Downsyndrom is caused by genetic problem but it is only considered as mistake during dividing the fertilized egg and chances to get same problem again are very very low. Also so called missed abortion that you had is common event. In fact only 1 of 5 pregnancies survives. Don't get desperate and the best thing you can do is to make a consult with doctor - genetic specialist and then have a wonderful healthy baby