Doctor insights on:
Soft Markers For Down Syndrome
Fetal ultrasounds in: The 1st & 2nd trimesters can show anatomical signs frequently seen in fetuses with Down Syndrome or other genetic accidents that result in 3 copies of a specific chromosome. Knowing your risk of DS, calculated by FUS findings, gestational & maternal age, 1st & 2nd trimester maternal blood screens, & a higher-resolution FUS, helps you decide if you want chromosomal testing for a definitive answer. ...Read more
Is amniocentesis a safe enough procedure to be performed even when risk of Down syndrome per marker tests is low?
My doctor didn't find any Down syndrome markers in the ultrasound. Does that guarantee my baby won't have down syndrome?
No. OB's combine the: Results of an integrated screening test that includes specific blood tests in both the first & 2nd trimesters + the first trimester ultrasound to determine a single Down Syndrome risk rating. Only prenatal diagnostic tests of fetal genetic material for either Karyotype to determine # of chromosomes or Chromosomal Microarray to determine mutations in smaller gene sequences are definitive. ...Read more
What can I do if my doctor didn't find any Down syndrome markers in the ultrasound. Am I out of the woods?
Not necessarily: The definitive test for down or other chromosomal defects is a chromosome study on fetal cells obtained through cvs or amniocentesis. These are specific and dependable. Ultrasounds and blood tests are screening tools. They are helpful in picking out some who might need the definitive tests. At 39 you have about 1% risk for ds but another 4% risk of some other issue (premi, clefts etc.). ...Read moreSee 1 more doctor answer
What do you suggest if my doctor didn't find any Down syndrome markers in the ultrasound. Am I out of the woods?
Maybe: When looking for DS there are a variety of tests used for screening. An ultrasound looks for features that are commonly found in DS, but are not 100% accurate. Tests that look at the babies chromosome pattern by obtaining fetal cells are the most accurate. When someone is in the low risk category, a negative US is probably adequate. If in a higher risk, a more specific test is advised. ...Read more
Daughter is pregnant with twins saw EIF on the girls no other marker or family history how worried should she be about down syndrome?
Had 1/610 for Down syndrome prior to sonogram, found bright spot in heart (soft marker) does that mean the probability is doubled ex. 1/310, high risk?
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 more
Supportive care: Down syndrome has a well recognized pattern of obvious features and several common vulnerabilities. An evaluation for treatable heart defects and other problems helps assure the patient with best chance at a good life. Supportive care for their academic and growth challenges is also required. With modern health care, these patients can live well into their 60's in a protected environment. ...Read more
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
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