Doctor insights on:
Can A Person With Down Syndrome Have Normal Children
For an assessment:
Of the child's developmental needs & toilet-training readiness, if < 3 yrs. Old, call Pam Barton,
Franklin County Help Me Grow Coordinator at (614) 227-9860. If 3-5 yrs. Old, call Lynn Brannon, Director of Early Childhood Special Education at (614) 542-4106.
At the same time, call (614) 355-8080 for an evaluation at the Down Syndrome Clinic, Nationwide Children's Hospital, (614) 355-8080. ...Read more
DS Phenotype: Flattened face, upward-slanting eyes, skin folds at inner corners of eyes, transverse palmar crease, & more. Many have congenital anomalies of the heart, intestine, skeletal system & other organs, along with hearing loss, vision problems & certain blood & neurological disorders. Intellectual Disability is usually mild-moderate. Guidelines for medical & developmental care are well-established. ...Read more
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
ACOG charts show the: Risk of having a fetus with a Trisomy 21, Down Syndrome, at prenatal diagnosis vs. The risk of having a live-born infant with DS because ~ 25% are lost. If there is no family history or prior infant with DS, at age 42 at delivery, the risk is 1/63; risk at 16 weeks' gestation is 1/50 - 1/55. Risk of any chromosomal disorder at term is 1/42. If 43 at term, DS risk is 1/49; of any trisomy, 1/33. ...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
Doubt it would Hapn: While females with ds are capable of reproduction (with difficult pregnancies) males with few exceptions are not. For a male to be capable, I would expect him to be a partially affected mosaic ds & fertility would depend on the tissues of his body that has ds info. Having family support thru their lives is a great asset to anyone with ds or any impairment. ...Read more
In the absence of: Significant congenital heart disease, average life expectancy for people with DS is 60. Genetic changes that occur in Trisomy ^ risk of many medical conditions: leukemia, celiac disease, lowered immune system function, sleep apnea, obesity, heart valve disease in young adulthood, mental illness, early Alzheimer's & many more. Quality & duration of life are improved by assiduous medical care. ...Read more
Individual decision: It is a decision that is made by the parents and one that should be made after receiving accurate and complete information. ...Read more
Many: Teachers, speech, physical and occupational therapists as well as medical providers and psychologists are some of the career paths that would allow you to work with special needs children. If your goal is to work with these children you just need to decide in what capacity. Do you want to be hands on providing services or have more indirect role. The possibilities are endless. ...Read more
What careers are out there that work with autistic and Down syndrome children (and still have fun at it)?
Lots: There are quite a few fields, including nutrition, childhood development, child and adolescent psychology, child and adolescent psychiatry (physicians) and developmental and behavioral health pediatrics (physicians), or general pediatrics (physicians). As to whether any of these jobs are fun. . . That's up to each individual. ...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
What are the possibility of having a Down syndrome baby for 45 y/o woman? 4th pregnancy and previous children are healthy.
Downs syndrome: The chances of having a downs syndrome baby at age 45 is1 in 30. ...Read more
What are the chances of having 2 children with Down syndrome in statistics? And would that disqualify someone from donating an egg for someone ivf?
Probably would: It would be unlikely someone with 2 downs pregnancies would be accepted as an egg donor. ...Read more
5w4d pregnant Hcg at 14031 (up from 5859 in 48h). Are these normal values or is there risk for Down syndrome?
Developmental peds: A developmental pediatrician specializes in developmental and behavioral problems in children, including autism, Down Syndrome, ADD and some other issues. If you are looking for a developmental pediatrician in your area, you can ask your general pediatrician for a referral or you can look on the American Academy of Pediatrics website: www. Aap. Org. ...Read more
If you have 2 healthy children, does that lower your chances of having a child with Down syndrome or other birth defect?
Rolling the dice: A woman can give birth to a ds infant at any age. The frequency varies with age @ 1/1500 from 15-29, 1/100 @40-45 and 1/50 over 45.There are some non specific screening tests available early in pregnancy to see if it is more likely, but examination of fetal cells for a chromosome count is the most accurate. ...Read more
I'm 28. 19 wk preg. Had u/s. Normal however tech found white spot on left ventricle. Tech said may indicate down syndrome. What are the chances?
Time for consultatn: I would review the study with the radiologist or your OB before taking the comments of a tech. Some are knowledgeable and some less so. It is considered unprofessional for any to give information to a parent before review by the physician. ...Read more
My maternity 21 test came back positive for down syndrome, but my ultrasound is normal. Will my amnio tomorrow say the same, or different results?
Screen vs definitive: When you are trying to test for something in large populations (pregnant women) it is common to screen with a less invasive test and only do the more invasive (and costly) test if the screening suggests a problem. The amnio will get babies cells for study, and the results will be definite. A positive study means ds is present a negative, it is not.. ...Read more
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
Need help docs! My baby is 13 months old don't have any teeth he is Down syndrome is that normal?
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
My LMP is 27apr14 and my beta hCG level on 28may14 found 6805.93mIU/mL and on 30may14 is 14798.49mIU/mL. Is it normal or doubt of down syndrome?
Normal: Your HCG levels have appropriately doubled. It is a good sign of a healthy pregnancy. If you are concerned about Down's syndrome, please speak with your doctor regarding early blood tests that will help with diagnosing an abnormal pregnancy like integrated screening or verifi prenatal test. Good Luck! ...Read more
Echogenic cardiac locus is found on 20 week. Maternity21 plus is normal. Is any other test needed? Is screening Down syndrome done in structural US?
All pregnant women: Are offered either Ist trimester screening using maternal age, nuchal, or neck, translucency on FUS & blood tests for 2 pregnancy-specific substances or similar 1st & 2nd trimester screening. Cell-free fetal DNA analysis of maternal blood is more specific. Yes a detailed fetal anatomic survey can be done. None of these is diagnostic. Echogenic Intracardiac Focus is seen in ~ 3% of normal fetuses. ...Read more
My wife (29) is 20 week pregnant, her all down syndrome screening is normal other than nuchal fold (6.7mm), is there any complication?
Down's Syndrome: At 29, there is diminished risk of Down's Syndrome, and a "nuchal fold of 6.7 mm." is not diagnostic of Down's. There exist other tests (amniocentesis with tests for chromosome abnormalities) which can confirm whether Down's is present, but you should consult your OB to make that decision, since there are risks to amniocentesis, although not frequent ones. ...Read more
28 yr down syndrome female wbc 2.8 vitamin d 9 b12 208 hypothyroid under control on vitamin d and b12 rest of cbe and platlets normal?
Leukopenia: Low white cell count with normal red cell series and platelets has several causes like autoimmune disease, aleukemic leukemia, medication induced, viral illness, but may also have no identifiable cause. 2800 is quite low and the differential white cell count becomes important to know. A hematologist is best qualified to evaluate the situation. ...Read more
My daughters lab work had RBC&WBC normal. Platelets at 35, 000 and absolute lymph 4.19. She has Down syndrome. She sees hematology Wednesday.?
Abnormal Labs: Sarah, reviewing these labs I see she has a low platelet and a low lymphocyte count. That is why she is being sent to the hematologist. Beyond that, I can not tell you what they are going to find. I am sure they will first repeat her CBC or blood count and order additional blood tests to further differentiate just exactly what is going on. This will be done with her history. Best Wishes. ...Read more
Interesting couple: This is a realistic issue for those working with mentally challenged adults. Some patients function at the upper end of the DS intellect, with capabilities of strong personal relationship. All 21 trisomy males are functionally sterile, but females are capable of reproduction. Such a pair would have many challenges in life, but could do better than many "normal" couples. ...Read more
Early Intervention: Improves development, especially in fine-motor, social & self-help skills. Early childhood special ed at 3, with iep's including long-term speech & language, occupational, physical & behavioral therapy. Visual organizers, schedules & written/pictorial instructions work well because of strengths in visual motor skills & weakness in verbal short-term memory. Balance inclusion & special ed classes. ...Read more
No: The material that causes ds is not carried on genes like eye color or blood type. The features that define ds are present when an extra specific segment of the 21 chromosome ends up in a baby. That usually happends when a whole extra 21 chromosome is present. (95%). In 1-2% an extra piece of a 21 is stuck on to another chromosome. ...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
How long does a Down syndrome person usually live? Is that a problem since parents are usually old?
6 decades +: Years ago the expected lifespan for ds kids was short, due to a combination of heart defects, increased vulnerability to infection & lack of aggressive management. Today the projected lifespan exceeds 6 decades. Ds is a prime example of the need for survivor assistance planning. Various ds support groups, the "arc", social workers all help families integrate public & private support. ...Read more
Chromosome defect: Ds is one of the more common chromosome (c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.Here a pair of moms 21c +dad's 21 creates a baby with the extra 21c in all tissues. This extra material confuses the creation of body parts causing ds. Various prenatal tests can pick up signs early on. ...Read more
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