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as a carrier of the extra 21 gene would my baby be downs
hi i am 29 yrs old and have two beautiful girls aged 9 and 6 and i carry the extra 21 chromosome but it did'nt turn into down's syndrome in either of them.when pregnant with my first aged 19 i wa stold my chances were 1 in 10 and this would get worse the older i bacame .my second when i was 22 i was told it was 1 in 5 and now i want to try for another baby could anyone help with what my odds are now .thanks
Hi ladies,
I found the information and confirmed it on the American Family Physician website, (a medical reference website) and yes, for the most part Martikadragoon is correct, but there is additional information. Here is what I found for you both:
********
Recurrence Risk and Family History:
If a patient has had a trisomy 21 pregnancy in the past, the risk of recurrence in a subsequent pregnancy increases to approximately 1 percent above the baseline risk determined by maternal age. Diagnosis of a chromosome-21 translocation in the fetus or newborn is an indication for karyotype analysis of both parents. If both parents have normal karyotypes, the recurrence risk is 2 to 3 percent. If one parent carries a balanced translocation, the recurrence risk depends on the sex of the carrier parent and the specific chromosomes that are fused.
The significance of a family history of Down syndrome depends on the karyotype of the affected person (proband). If the proband has trisomy 21, the likelihood of a trisomy 21 pregnancy is minimally increased for family members other than the parents. If the proband has a chromosome-21 translocation or if the karyotype is unknown, family members should be offered genetic counseling and karyotype analysis.
********
This information is obtained directly from the site, and the reference is written by:
DAVID S. NEWBERGER, M.D. (State University of New York at Buffalo, Buffalo, New York ) and sited from Medical Reference: Tolmie JL. Down syndrome and other autosomal trisomies.
So, as I understand, re-occurrence risk is whatever your maternal age risk is, plus 1 additional percent. If there is translocation Ds, the risk is your maternal risk plus 2-3%.
So, I did not find anything that specifically says the risk increases 1% per year, but it is that it increases by 1% on top of what your maternal age risk is. And your maternal age risk increases obviously every year as you age.
This information is pretty technical, so if you need any further or additional information please let me know, I would be more than happy to find it for you. I have several wonderful references from my training with the Infant and Child Development team. And I have access to other information should you need it.
Please let me know if I can be of further assistance!
Sandi (Dragon1973)
Down syndrome Group Forum Founder/Moderator
I found the information and confirmed it on the American Family Physician website, (a medical reference website) and yes, for the most part Martikadragoon is correct, but there is additional information. Here is what I found for you both:
********
Recurrence Risk and Family History:
If a patient has had a trisomy 21 pregnancy in the past, the risk of recurrence in a subsequent pregnancy increases to approximately 1 percent above the baseline risk determined by maternal age. Diagnosis of a chromosome-21 translocation in the fetus or newborn is an indication for karyotype analysis of both parents. If both parents have normal karyotypes, the recurrence risk is 2 to 3 percent. If one parent carries a balanced translocation, the recurrence risk depends on the sex of the carrier parent and the specific chromosomes that are fused.
The significance of a family history of Down syndrome depends on the karyotype of the affected person (proband). If the proband has trisomy 21, the likelihood of a trisomy 21 pregnancy is minimally increased for family members other than the parents. If the proband has a chromosome-21 translocation or if the karyotype is unknown, family members should be offered genetic counseling and karyotype analysis.
********
This information is obtained directly from the site, and the reference is written by:
DAVID S. NEWBERGER, M.D. (State University of New York at Buffalo, Buffalo, New York ) and sited from Medical Reference: Tolmie JL. Down syndrome and other autosomal trisomies.
So, as I understand, re-occurrence risk is whatever your maternal age risk is, plus 1 additional percent. If there is translocation Ds, the risk is your maternal risk plus 2-3%.
So, I did not find anything that specifically says the risk increases 1% per year, but it is that it increases by 1% on top of what your maternal age risk is. And your maternal age risk increases obviously every year as you age.
This information is pretty technical, so if you need any further or additional information please let me know, I would be more than happy to find it for you. I have several wonderful references from my training with the Infant and Child Development team. And I have access to other information should you need it.
Please let me know if I can be of further assistance!
Sandi (Dragon1973)
Down syndrome Group Forum Founder/Moderator
Your odds have increased with your age and from what I was told by my genetic counsellor the risk increases 1% with each year so if your chances were 10% before, they are %20 now.
SANDI (DRAGON) CORRECT ME IF MY INFORMATION IS INCORRECT
Different doctors and genetic counsellors have different ideas on the percentages. I'm not sure why but I feel it has to do with the fact that some doctors are younger and newer information is taught in medical school and some are older and still stick to the older beliefs about risk.
If you want another baby you should go for it. Having a child with down syndrome is wonderful and although my son had many of the health problems associated with down syndrome I'd go through it all over again to have the beautiful almost 2 yr old I have now (look at my profile if you like)
Good luck. By the way I have a rare skin disorder called EHK and have a 1:2 of passing it on. that's a %50 risk. Babies born with the rare disorder have a %25 of dying due to sepsis and severe skin infections because they're born with their skin ripped up.
Knowing that I chose to have 2 babies, my first born with down syndrome also has the skin disorder but my 4 month old doesn't have it. he's healthy and we plan on 1 or 2 more babies. My husband is well aware of the risks. :)
TTYL
Cindie
SANDI (DRAGON) CORRECT ME IF MY INFORMATION IS INCORRECT
Different doctors and genetic counsellors have different ideas on the percentages. I'm not sure why but I feel it has to do with the fact that some doctors are younger and newer information is taught in medical school and some are older and still stick to the older beliefs about risk.
If you want another baby you should go for it. Having a child with down syndrome is wonderful and although my son had many of the health problems associated with down syndrome I'd go through it all over again to have the beautiful almost 2 yr old I have now (look at my profile if you like)
Good luck. By the way I have a rare skin disorder called EHK and have a 1:2 of passing it on. that's a %50 risk. Babies born with the rare disorder have a %25 of dying due to sepsis and severe skin infections because they're born with their skin ripped up.
Knowing that I chose to have 2 babies, my first born with down syndrome also has the skin disorder but my 4 month old doesn't have it. he's healthy and we plan on 1 or 2 more babies. My husband is well aware of the risks. :)
TTYL
Cindie
thankyou for all your help i did see a genetic specialist when i had my first daughter ten years ago and that was when i was told the chance was 1 in 10 but as i was only 19 i was ignorant and did'nt really listen to him after he TOLD me to have a termination she was my baby regardless and she was perfect but as i am now 29 this year i went to see if my odds had increased and was told a letter from the specialist was on file saying the 10% was for all pregnancies regardless of age.he did say my age was a factor more now though.thanks again x
Hi there Jade1711,
I am just wondering, have you been to a genetic specialist since you know about the Translocation Ds in your genetic history? Since many regular doctors do not deal with the other types of Ds, specifically Translocation as it would appear you have, (being the carrier but not having Ds yourself) it would be prudent to get an analysis from them. We have all been told, (myself specifically) that with advanced maternal age, increases the risk or odds of conception with Down syndrome. I did find an article specific to your question that covers the information that about 1/4 of children who have Translocation Ds, are inherited. Take a look at this article and see if it helps you any: http://www.ds-health.com/benke.htm (Risk and Recurrence of Down syndrome). This article is listed in a resource website by Dr. Leshin who has a son with Ds.
I queried "Risk of Ds - translocation" an found this article also: http://pediatrics.aappublications.org/cgi/content/abstract/35/3/463
But it is very scientific. It does talk about "On the basis of the frequency of maternal D/21 translocation in this group and the expected ratio of affected offspring born in the general population a recurrence risk has been calculated for all mothers with an affected child purely on the chance they may carry a D/21 translocation" (or in other words, the risk associated on chance that they may have Translocation Ds.)
I don't know if this helps you, but I would really suggest you see a genetic counsellor or specialist if you are not already. They would more accurately be able to give you the "real" numbers, that the rest of us may only be guessing about.
Please let us know if this is possible for you.
Sandi (Dragon1973)
Down syndrome Group Founder/Moderator
I am just wondering, have you been to a genetic specialist since you know about the Translocation Ds in your genetic history? Since many regular doctors do not deal with the other types of Ds, specifically Translocation as it would appear you have, (being the carrier but not having Ds yourself) it would be prudent to get an analysis from them. We have all been told, (myself specifically) that with advanced maternal age, increases the risk or odds of conception with Down syndrome. I did find an article specific to your question that covers the information that about 1/4 of children who have Translocation Ds, are inherited. Take a look at this article and see if it helps you any: http://www.ds-health.com/benke.htm (Risk and Recurrence of Down syndrome). This article is listed in a resource website by Dr. Leshin who has a son with Ds.
I queried "Risk of Ds - translocation" an found this article also: http://pediatrics.aappublications.org/cgi/content/abstract/35/3/463
But it is very scientific. It does talk about "On the basis of the frequency of maternal D/21 translocation in this group and the expected ratio of affected offspring born in the general population a recurrence risk has been calculated for all mothers with an affected child purely on the chance they may carry a D/21 translocation" (or in other words, the risk associated on chance that they may have Translocation Ds.)
I don't know if this helps you, but I would really suggest you see a genetic counsellor or specialist if you are not already. They would more accurately be able to give you the "real" numbers, that the rest of us may only be guessing about.
Please let us know if this is possible for you.
Sandi (Dragon1973)
Down syndrome Group Founder/Moderator
just to let you know been to doctors to confirm and i got my numbers wrong my odds are 1 in 10 for all pregnancies it does'nt increase the only thing against me now is age
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