Doctor insights on:
Is There Any Way To Know Risk Of Down Syndrome
1/12: Data from a new york state study put the risk at 1 in 12 for age 49. I found no later estimates. ...Read more
Incidence increases : The incidence of down syndrome actually begin to increase after the mid twenties and cross the 1/100 risk from 40-44 & 1/50 at 45+. Risk of an unexpected outcome is a steady 4% for any pregnancy + any added issues. Where & how you can find a spouse or surrogate to carry an heir is a a different issue. Hopefully this info helps. ...Read more
Is amniocentesis a safe enough procedure to be performed even when risk of Down syndrome per marker tests is low ?
Penta test came back for having high risk of Down Syndrome. How accurate is this test? Will Panorama possibly be negative?
Could be: there may be a one-in-five chance of a false positive or even a one-in-two chance, depending on the mother’s age. If the panorama is negative, then it was likely that the penta test did not screen properly. ...Read more
Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry). It usually happens when an egg with an extra 21c combines with a normal sperm ; creates a baby with the extra 21c in all tissues.Risks vary with age and are lowest in the early 20's(1/2000), rising to 1/100 at about 40 ; 1/12 at 49.Various prenatal tests can pick up signs early on. ...Read more
What are the chances my child will be born with chromosomal abnormalities? I was told my unborn child has echogenic bowels, that i tested higher for the risk of Down syndrome and as a carrier of the cystic fibrosis trait
There : There are several ultrasound findings that can suggest down sysndrome, and echogenic bowel is one of them. There could be other explanations for that finding, though. It sound like you will need some testing to find out what's going on. The two tests used most commonly are amniocentesis and chorionic villous sampling. Each has its own risks and benefits, so you should discuss them with your obstetrician. I would suggest that you do this sooner than later, and regardless of whether the outcome might lead you to terminate the pregnancy. ...Read more
Chromosome test: Down syndrome is a pattern of malformation ; disordered development related to extra chromosome material carried by the patient. It's most common form involves an extra 21 chromosome, (trisomy 21) in every cell in the body.Less than 10% are mosaics that have a percentage of t21 and some normal.Others have cells with extra 21 material stuck on another chromosome.It is confirmed by a chromosome test. ...Read more
Increases with Age: Increasing age of mom increases the risk of down's syndrome. Otherwise no known way to change the outcome other than have babies at a younger age. ...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
DNA defects: Chromosome 21 seems to be the cause. Two most common types are trisomy 21 where ther is an entire extra chromosome in each cell. The other is translocation where only an extra piece of the chromosome is found. It can be an isolated defect or an inherited defect. Rare exotic forms include polyploidy and haploid forms and chimeras. Sorry you asked? ...Read moreSee 1 more doctor answer
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.In ds the pair of moms 21c +dad's 21 creates a baby with the three 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 moreSee 1 more doctor answer
Down syndrome : Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be cured but treatment and support can help someone with Down's syndrome to lead an active life. A number of advice and support groups are available for people with Down's syndrome and their families and carers. ...Read moreSee 1 more doctor answer
Mistake in chromosom: During the formation of normal eggs or sperm the chromosome(c) pairs are supposed to split leaving one of each in the egg/sperm.At conception the joining of egg/sperm brings together the pair & as tissue grows it has the proper number in each cell. With ds the egg has a pair of 21c and at conception a triple 21 is created. All cells derived after will have an extra 21 & become a ds child. ...Read more
Rarely: Downs syndrome is usually related to a trisomy defect that develops during the initial cleavage of the cells during primary fetal development. A form can occur as a translocation that may be carried by a parent. An assumption is that the 21 chromosome may be damaged by maternal age or by some environmental factor that then results in downs syndrome. Most cases are just by chance. ...Read moreSee 1 more doctor answer
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