Doctor insights on:
Is Trisomy 21 Fatal
Completely different: Down syndrome (trisomy 21) is characterized by varying degrees of neurodevelopmental delay (mild to severe) propensity for dementia at early age and heart/blood disorders, but may have a near normal life span. Extra chromosome x is usually very mild condition; affected females tend to be tall and have relatively small heads and minimal decrease in their verbal and performance iq scores. ...Read more
Ordinary chromosomal traits require a pair of chromosomes to determine the traits. Occasionally, as a mistake in cellular division, there is a tripling of one of the chromosomes. When these occur, they usually cause unpleasant, and sometimes deadly conditions in the inheritor of these traits (e.g. Down's). Many we do not know about as they are ...Read more
They may never: Crawling ends up the least important milestone for a baby. An infant with chromosomal defect usually has low muscle tone and will be delayed in sitting and walking. Most tend to scoot on their bottoms and then learn to pull up to stand and then walk along furniture. They usually do not bother to crawl. Crawling is not necessary. They will progress their way - with appropriate help. ...Read more
Many: There are numerous disorders that can happen with abnormalities of chromosomes 10 and 13. Too many to list here. Trisomy 21 means the person has an extra chromosome 21 and this is more commonly known as Down's syndrome. There are many possible phenotypic findings with this disorder, again too many to list here including physical characteristics, heart , hearing, vision, skeletal, developmental.... ...Read more
Confusing question: Your age is listed at 45 with a down syndrome risk in excess of 1/100, added to a 4% risk of some unexpected outcome (cleft, premi, sick) for delivery at that age.Amniocentesis is a definitive test for ds and other chromosome issues. If it might alter what you plan for the pregnancy, it has value including preparing for a special needs kid.If it won't, why bother.Some risks are involved. ...Read more
Down Syndrome: This syndrome was named for j langdon down, a physician who ran a foundling hospital in britain many years ago. He wrote up one of the first recognized descriptions of the common features of the syndrome published in a medical journal. ...Read more
Supportively: Down syndrome itself does not need to be treated however certain conditions that can go along with ds should be managed and prevented if possible. These include monitoring for disturbances in growth and obesity, getting a cardiac workup to evaluate the heart function, have hearing and vision testing, check thyroid function, monitor the blood yearly for abnormal blood counts, good dental hygiene. ...Read more
Name game: Dr.Langdon Down worked at a home for the retarded in Britain in the 1800's.He was credited for the first published description of the syndrome that would carry his name. After the human chromosomes were identified and numbered in the 1950's, DS was studied and trisomy 21 was identified in most. Later studies show an extra piece of a specific area of the 21 is all that is needed to have DS. ...Read moreSee 2 more doctor answers
See below: The gametes that are not fertilized during conception are wasted. ...Read more
I was told my unborn baby has a 1:120 chance of trisomy 21. I am doing more testing, but how concerned should I be that my baby has down syndrome?
Glass half empty ?: You can also look at this as a 98+% chance you don't. Any pregnancy has about 4% chance olf some unexpected outcome, including prematurity, birth defect, sick baby, etc. If your like most moms you worry about stuff like this happening anyway, it was just brought into focus by the comment. Hang in there and try to enjoy the idea you wile likely have no problems. ...Read moreSee 1 more doctor answer
What is the risk of a trisomy 21 parent passing on the condition to his/her offspring? Should adults with Down syndrome be dissuaded from reproducing
Nondisjunction risk: You mentioned the two known risk factors for trisomy 21. Increasing maternal age has an increased risk of nondisjunction (the failure of homologous chromosomes to separate during and after meiosis). This leads to an extra copy of chromosome 21 in the egg. There are probably genetic mutations that lead to increased nondisjunction, but these have not been discovered yet. ...Read moreSee 1 more doctor answer
My amnio showed trisomy 21. I don't want to abort but I don't want a csection if needed. Can I say that?
T1;14(p22;q32: commonly seen in extranodalMZL associated with lymphomas downs syndrome translocation involves different chromosomes so the chance of downs syndrome is that of the general public not any more ...Read more
Integrated screening: tests for Down Syndrome & other disorders include 1st trimester Fetal UltraSound & maternal blood test for specific pregnancy-related proteins & a 2nd-trimester blood test for 4 pregnancy-related substances, the levels of which are interpreted for gestational age. Your OB may get another FUS & blood test, cell-free fetal DNA, so you can decide if you want a diagnostic test of fetal chromosomes. ...Read more
Nuchal translucency measured 2mm and blood work came back very low risk of trisomy 21 and 18(less than 1/10000). Do i need any other testing done?
Yes: Hand flapping can occur with a variey of conditions, including trisomy 21 and many forms of intellectual disability. It typically occurs as "overflow, " when the child is excited or frustrated. It is not dangerous, per se; if it occurs so persistently that it interferes with more desirable activities, antipsychotics sometimes are used to diminish the frequency; behavioral approaches may work too. ...Read more
7month baby(Down Syndrome-trisomy 21).Friend suggested NuTriVene-D vitamins (Daily Supplement, Daily Enzyme, and NightTime Formula).What do you think?
Supplement review: Although I do not have first hand experience with this product, I have reviewed the website and their claims. They claim to manufacture according to current Good Manufacturing Processes, have FDA inspected facilities, and appear to have policies for lab testing for product purity and quality. These practices are generally good indicators of a reputable company, so the product is likely safe. ...Read more
Risk trisomy 21:1/78 positive
Risk trisomy 18:1/200 negative
Any explanation as to why would be very helpful!
NT MOM: 2.61?
Trisomy 21: This is a common occurrence in obstetrics. Getting the screening tests and how to interpret them can be scary. Having a 1 in 78 chance of downs syndrome does not mean you have a down syndrome baby. It means you have a greater chance than by your age alone. It also means you have a 77 in 78 chance of not having this condition. Get a Fetal DNA test to help clarify this. ...Read more
All kids need plan: Parents are regularly faced with planning for their kids whether impaired or not. In the case of a down syndrome child, there are a variety of resources available that look at survivor planning. The arc (formerly called association for retarded citizens) in my area counsels parents with this & similar needs. Many states also provide planning help & assistance. Check with your dr school for refer. ...Read moreSee 1 more doctor answer
29 years old, bilateral cpcs and mild renal dilation in my 19 wk ultrasound. What is my adjusted risk for trisomy 21,13 and 18?
Consult a Fetal: Maternal Medicine specialist if you're worried about the results of your Level 2 targeted fetal ultrasound. Your age & the results of your screens need to be factored in to calculate your risk. Bilateral Choroid Plexus Cysts are seen on 2nd trimester FUS's in 1-2% of healthy fetuses. They usually resorb in all fetuses. Genetic amniocentesis would give you a definitive answer. ...Read more
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