Doctor insights on:
Can Two People With Down Syndrome Have A Normal Child
Wouldn't happen: Although DS girls enter puberty and become fertile the male rarely if ever achieves this status. DS females have offspring after conception by normal males, usually from abuse or incest. These are roughly half normal and half DS. Males with DS rarely if ever achieve a fertile status and because of this outcome would be unknown if ever conceived. ...Read more
At 37, I had two miscarriages for my second child. Does it mean if I get pregnant again my child will have down syndrome?
No: The risk increases with the mother's age but it is very common for women today to give birth in their mid-30s. ...Read more
Laws of genetics: When a woman with Down's Syndrome forms gametes (unfertilized eggs), all the chromosomes except #21 will split evenly. Since Down's Syndrome means three copies of chromosome 21 (by dehfinition), the chromosome cannot split "evenly" - half will have 1 copy (normal); the other half will have 2 copies (Down's syndrome carrier). These will pair with 1 copy (usually) of Chromosome 21 from the father. ...Read more
My sister has a two yrs old Down syndrome boy. What is the chance that a second baby is also affected? Is there chance to reduce the risk?
Depends: Traditional ds (>85%) have an extra 21 chromosome & recurrence risk runs 1% for young mothers but 1% + the age factor as a women ages. There are uncommon forms of ds due to transfer of pieces between chromosome where the mom or dad could be an asymptomatic carrier. The % of those varies with the defect & it would be best to consult a geneticist. If regular ds, the numbers above apply. ...Read more
Seldom happens: Most Down syndrome males are functionally sterile. Rare mosaic individuals have potential for fertility but data is not available for comprehensive review. Ds women enter puberty & childbearing at the usual time & can give birth. Data suggests less than 1/2 their offspring will be ds due to miscarriage of some ds embryos. Most are born prematurely and by c-section. ...Read more
Yes: They are separate issues. PKU is a metabolic disease. Down syndrome is caused by an extra 21 chromosome in each cell. Testing for each condition is separate. Many times a doctor can examine a baby & conclude that DS is likely. PKU cannot be determined or suspected by a newborn exam, it is found with tests. ...Read more
Is fetal movement of baby with any 'problem/defect' like down syndrome, the same as a normal growing fetus?
Depends on the: Degree of low muscle tone (hypotonia) that is present in a fetus with Down syndrome ; the size (smallness for gestational age) of the fetus. Some mothers of infants with ds say they felt less fetal movement than from their non-ds fetuses; others say their fetus with ds was a good " kicker." there is a range of hypotonia in infants with ds, just as there is a range of cognitive ability. ...Read more
Early Intervention: Programs for infants with DS accelerate attainment of motor, communication, self-help/adaptive & cognitive skills through OT, PT, cognitive, behavioral & Speech/Language Therapy from 0-3, then Early Childhood Special Education beginning at age 3 + individual therapies, if possible. Ask teachers & therapists what skills your child has mastered, what he's ready to do next & how to motivate him. ...Read more
Egg injury: A newborn girl is born with all the eggs she will ever have, and their quality reflects exposures to toxic agents throughout life. Men get more of a pass on this because they make millions of sperm and the healthiest sperm swim faster and do the fertilizing. We know that over 35, the chances of DS begin to rise, reaching 1/5 by age 55. ...Read more
If there is no sign of Down syndrome in my family, what are the chances I will have a child with downs?
Several possible: The features of Down syndrome are dependent on the addition of one extra segment of a 21 chromosome which is more likely as women age. You can get this several ways. The traditional DS (~95%) has 3 copies of a 21 chromosome. About 4% have the specific extra 21 piece stuck on a regular chromosome (trans-location).About 1% have a mosaic of some normal and some 21 trisomy in variable amounts. ...Read more
Difficult # to find: The biggest influence on the decline of Down syndrome births in the last 4 decades has been the introduction of oral contraceptives & or decision to undergo permanent sterilization. Many centers do not keep or record the reasons for the procedure. Some centers consider invasive sampling such as amniocentesis only if couples are likely to terminate even if screening tests were suggestive of ds. ...Read more
What do you suggest if my son, down syndrome (karyotype a 47, xy, +21), hearing impared child is 22years old.?
Not sure what the question is. There are numerous adult residential facilities and support programs available.
Here is a place to start:
http://www. Ndss. Org ...Read more
If I have some of the physical signs of Down syndrome like a simian crease but don't have down syndrome, am I more likely to have a child with downs?
No: Some of the features seen in Down syndrome persons are also seen in other hereditary disorders, and some features are seen in normal people. A normal person can have a single horizontal palmar crease (simian crease), but his simian crease is just a trait he has, and has nothing to do with down syndrome. A normal person with a simian crease is not more likely to have a Down syndrome baby. ...Read more
It depends: Women with Down syndrome can get pregnant, and often their pregnancies are complicated. If the Down syndrome in the mother is caused by one extra chromosome 21, then the risk that she will conceive a child with trisomy 21 is about 50%. However, some Down syndrome women may have a translocation - with the extra chromosome 21 attached to another chromosome. Then the risks might be higher, even 100%. ...Read more
Any pregnancy @ risk: There is a risk of unexpected outcome with any pregnancy of at least 4%. (premi, cleft, chromosome defect) ds risk is present with any pregnancy. Those who want can have the chromosome makeup of the fetus tested during pregnancy. The procedures have risk & should only be used when considering termination. The lowest statistical risk occurs with pregnancy in the early 20's. ...Read more
Several possible: The features of Down syndrome seem to be dependent on the addition of one extra segment of a 21 chromosome. You can get there several ways. The traditional ds (~95%) has 3 copies of a 21 chromosome. About 4% have the specific extra 21 piece stuck on a regular chromosome. About 1% have a mosaic of some normal and some 21 trisomy in variable amounts. ...Read more
Confusing question: Certainly women with Down syndrome are fertile, achieving puberty at the same time as most of their age group. They can have infants that are both normal and have down syndrome. The question is an articulate one, more so than some of the physician answers. You appear to be stating ds skipped a generation in your family. Unless yours is a mosaic form, I doubt you are ds, ? Who is writing this? ...Read more
If my grandma have Down syndrome and me and my parents don't, is it possible that my child have down syndrome?
Unlikely: The traditional 21 ds female is capable of having healthy babies and at least half would not have ds. Those healthy babies would not have more than 1% risk having a ds kid nor would their kids. Less than 2% of ds patients are balanced carriers of an extra piece or a 21, and the chance that they would have any normal kids (your parent) approaches zero. ...Read more
Varies: In most cases it is the 40+ year old for the traditional ds 21 trisomy @ 1/100 while over 45 would be 1/50. A woman that carries a balanced translocation (a piece of 21 swapped to another chromosome)could actually have a very high risk. Every ds baby should have chromosomes done. If a translocation is found (3%), the parents should be studied to define risk of recurrence. ...Read more
My first child has a downsyndrome is it possible that my next future children will have down syndrome if I will get pregnant with the same guy?
Ask for help: It is hard to give an exact number...A financial planner can assist you with that. You will hopefully be able to put away enough money for all his needs to be met long term. Will he be able to live alone and be independent or will he need to be in assisted living facility? That will affect the goal...Hopefully that gets you started. ...Read more
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