Doctor insights on:
Is There Any Way To Know Risk Of Down Syndrome
Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood ...Read more
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
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