Doctor insights on:
High Risk Of Down Syndrome
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
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
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
My NT scan came out good but my blood work came back high risk for down syndrome(1:155) what are my chances for a healthy baby?
High risk Downs: That means that you have a 1 in 155 chance of having a baby with down's syndrome. Keep in mind, you are young, and downs is more common in women of advanced maternal age. Speaking to the doctor that ordered the test is also very important. ...Read more
I am 24, and my tests indicate i'm at high risk having a Down syndrome baby. Should I have the amniocentesis?
Depends: Anyone is at risk for a baby with down syndrome. If testing shows that you are at high risk, the risks of having a baby with down synedrome are higher than the risk of pregnancy loss. The loss with amniocentesis is only 1 in 1600 in experienced hands. The only way to know whether your baby is affected or not is to have an amniocentesis. ...Read moreSee 2 more doctor answers
Down's syndrome: Women at risk are usually much older than you. Ask your doctor if there is an indication of a chromosomal abnormality, such as having an extra piece of a 21 chromosome attached to another chromosome or a family history of young women in your family giving birth to children with down syndrome. Your doctor should be able to explain why he feels your are at risk. ...Read moreSee 2 more doctor answers
Advanced mom age: The risk of having a baby with any form of chromosome defect increases as the mother ages. It is lowest in her early 20's and rises above 1% at 40 and approach 5% at 50. It is a fact of life, that environmental toxic factors may eventually cause changes to the eggs that yield this risk. ...Read more
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?
Ob said based on my blood protein checking for risk of birth defects like Down syndrome or spinabifida my risk is 1 out of 189. Is this a high risk?
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