![]() ![]() If you have a NT+ or cfDNA study that suggests a chromosome problem, then a CVS or amniocentesis will be offered to decide if the result was a true positive (baby has Down Syndrome) or false positive (baby has normal chromosomes). The NT+ has about a 5% false positive rate, while the cfDNA rate is about 0.1% There is a small chance that the test will suggest that your baby has Down syndrome even though it does not. That is, it may suggest that a baby does not have Down Syndrome even though the baby does. Testing will not pick up 100% of cases of Down Syndrome. That is, we cannot check for a "normal" baby, but can check for some chromosome problems. Autism) where, at the moment, test results will be normal. There would be out of pocket expenses, the amount depending on the test. Testing may be performed (see below for the options). The risk of having a baby with Down Syndrome at birth is less than the risk at 12 weeks. This is because a percentage of babies with Down Syndrome will not make it through the pregnancy. That is, in the absence of a termination, the mother would experience a miscarriage or stillbirth. The risk of having a baby with Down Syndrome increases with advancing maternal age but women at ANY age can conceive a baby with Down Syndrome. The approximate risk of having a baby with Down Syndrome is age dependent, set out in the table below About 45% of individuals with Down syndrome will survive to the age of 60. ![]() The degree of learning disability cannot be determined prior to birth. They are also at increased risk of developing diabetes and dementia, and intellectual disability of varying degrees. ![]() Children with Down syndrome are at increased risk of abnormalities of the heart, bowel, hearing, and breathing. Babies with Down Syndrome have an extra chromosome and this creates various problems. Chromosomes contain the genetic blueprint that regulate growth and development. The main condition being sought ot is Down syndrome (an extra copy of the 21st chromosome) but other abnormailities can turn up as part of the process.ĭown Syndrome (Trisomy 21) is a condition in which a baby carries an extra chromosome. Please feel free to get me to clarify any uncertainty when you see me in person.Īneuploidy screening is the term applied to the detection of chromosomal abnormalities before birth. I will help you as much as I can digest what the current state of play is. Let me say at the outset this is a difficult area- emotionally, ethically, and the complexity of the choices available. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |