Doctor insights on:
Is Gender A Factor In Down Syndrome
In most cases: The basic risk of a female having a ds offspring increases from a low in the early 20's (1/2000) to 1/100 @40 & 1/12 @ 49.Chromosome origination studies suggest the anomaly ares in egg rather than the sperm, likely because a blighted sperm doesn't swim as effectively.Age is therefore less an issue for the male. In rare translocation ds, gender is not as much an issue. ...Read more
I went to the doctor today im 18 weeks pregnant but on may 2nd i had some blood work done , on today my doctor told me the risk of my baby having down syndrome is high but i didn't have a ultrasound yet to determine my baby's gender should i be worri?
Confusing statement: There are some tests, which are simpler,cheeper & less invasive that screen for just risk. There are also more specific tests that decide if it is really a problem.Some blood tests & an ultrasound would be screening tests. It sounds like you need to get a more specific test. They can decide whether on not this is DS but you need to have it done immediately. ...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
If the 1st trimester screening for Down syndrome was negative, how much does an echogenic focus at 20 week screening factor in?
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
Depends on parents: An unaffected mother or father could have a balanced(normal) set of chromasome material where a piece of one 21 chromasome is stuck on another.If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds.It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read moreSee 2 more doctor answers
No autosomal: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg & the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read moreSee 1 more doctor answer
Many: Increased incidence of congenital heart disease, gastrointestinal problems such as atresia and hirschsprung's, nutrition with gasroesophageal reflux and aspiration, hypo or hyperthyroidism, and neurologic; mental retardation, joint laxity and hypotonia. Some down syndrome have few problems, and some many problems. ...Read more
Old world term: Before the chromosome defect was found in '60's, the the facial structure of down syndrome kids/adults, reminded folks of the features of mongolian race. Original scientific publications used that terminology. It was well into the '70's before the descriptions began to change ; the public began to use the term down syndrome exclusively. ...Read more
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