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 1800s. 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 1950s, 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 more
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 of some unexpected outcome, including prematurity, birth defect, sick baby, etc. If you're 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 will likely have no problems. ...Read more
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
Depends on type: Risk to offspring depends on parents inheritence pattern. ...Read more
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 more
My quadruple test reveal a trisomy 21 chances 1:2309.and my age risk is 1:1416...nt measuresha 2mm at 12week 2 days...chances of trisomy 21 in fetus?
Low: All of these tests are screening tests meaning they tell you if there is an increased chance versus decreased chance of your baby having down syndrome. Based on the Quad result having less likely chance of downs than your age and a normal NT measurement, there is a very low likelihood of the baby having trisomy 21. ...Read more
My amnio showed trisomy 21. I don't want to abort but I don't want a csection if needed. Can I say that?
Delivery up to you: You should talk now with your OB about the route of delivery. Stay open to c-section if your life is in danger. ...Read more
Commonly seen in extranodalMZL associated with lymphomas
downs syndrome translocation involves different chromosomes
so the chance of downs syndrome is that of the 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 firsthand 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 more
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
AGE 32, WEIGHT 57, ASIAN AFP MOM 0.87 HCG MOM 1.24 UNCONJUGATED ESTRIOL MOM 0.51
want to know about my risk factor for trisomy 21?
None: Question is not clear but your chance of getting trisomy 21 is none. This is a congenital problem of the newborn and is genetic. If you do not have it now you will not get it. If your question is will you pass it on this is not able to be predicted with any accuracy. Usually a genetic mutation that occurs after conception and is more common in older mothers or parent. ...Read more
After a night of heavy drinking (mostly liquor) my stool smells really fruity. Is my liver failing? My 6m old has had this same smell the last 2 days in his stool. Is this ketones? He has trisomy 21
You: Cant make conclusions based on the smell of your stool. It probably means nothing other than having a new air freshner in the bathroom. Joking aside, fruity smelling stool is not indicative of any problem of which I am aware. ...Read more
Heard about some nih lab animals doing better by taking high protein when they had trisomy gene. Will that work for a child with down syndrome?
Not Proven Yet: Never has so far!Get a more detailed answer ›
Depends on variables: If your fetus was a classical trisomy 21, your risk would be roughly 1% plus your age related risk (1/270). If it were a translocation ds (6%) the recurrence risk could be as high as 100%. Any pregnancy has a basic risk of unexpected outcome in at least 4%, so with your prior experience a visit with a geneticist to explore both family trees to assess your possible outcomes. ...Read more
Increased chance: Women who have had a previous trisomic pregnancy, particularly those under 35 years of age at the time, appear to be at an increased risk of future pregnancies being trisomic. Evidence of increased risk of the same trisomy after a previous pregnancy with trisomy 13 or 18 the increase in risk being greater for women aged under 35 at the previous trisomic pregnancy. ...Read more
I just recently found out I'm pregnant with my 3rd child. Two of my children are from a previous marriage and I am now pregnant with my fiance's child and he is 38 I will be 29 in a week. My 2nd child has trisomy 21 downs syndrome. Everyone I talk to keep
MaterniT21.: Your question was cut-off — but, if I understand correctly, you are concerned about the risk of Down syndrome in your current fetus because of your prior infant with down. My answer is easy: take folate, (folic acid) get genetic counseling and consider the maternit21 non-invasive test by sequenom (or others similar to it now commercially available) to determine this fetus' risk for down syndrome. Best of luck! ...Read more
I'm 34. I just terminated a pregnancy due to trisomy 21 and imminent heart failure. Can i still have a healthy baby or does this mean my chances r low?
Would consult ..: A genetics expert and a high risk ob/gyn dr to give a full risk profile. ...Read more