Should I have the maternal serum quadruple test?
Prenatal testing such as the quad screen, is a very personal decision from patient to patient. It’s important that patients talk to their physician about the quad screen and whether or not it would be a good idea for her to have it or not. It is a very personal decision. It is a blood test that looks for a patient’s risk and it reports the risk of the baby having down syndrome and neural tube defects, such as spina bifida. It is not a yes or no answer, it is simply a risk determination and it is used as a screening test. So, it is important that the patient speaks with her doctor and talks about her risk factors first, whether it is family history or age. Based on that, it makes the decision whether to see a genetic counselor and makes a decision whether or not to have those screening tests that are available to her.
Learn more at fetalsurgery.chop.edu Once the spina bifida diagnosis is confirmed, mothers and fetuses undergo a variety of assessments and tests at CHOP to determine the nature and severity of the spina bifida defect and to help determine the spina bifida treatment that’s right for them. Learning your options after diagnosis is critical so you can receive the best care possible for you and your unborn child. CHOP’s Center for Fetal Diagnosis and Treatment team will assess the baby’s fetal condition and your appropriateness as a candidate for prenatal or postnatal spina bifida treatment. The development of spina bifida in utero surgery has changed the historical course of spina bifida treatment and the long-term outcomes. This video explores what families experience as they learn about treatment options and decide on the spina bifida treatment that’s right for them.
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Ask The Experts About Genetic Counselors
Susan asks…
How can genetic counselors predict chances of disorder? Why would a couple want this done?
admin answers:
Genetic counselors look at not just your family history, but also your age (the chance of chromosome conditions increases with a mother’s age), your blood test results (OB’s will often test their patients to see if they’re carriers for conditions like sickle cell or cystic fibrosis or to see if they’re at a higher risk for conditions like Down syndrome), your pregnancy history (ie, exposure to certain infections or medications may increase the risk for certain birth defects), and any abnormal ultrasound findings that may increase the risk for a genetic or chromosomal disorder. This can help couples learn about any possible testing options they may want to consider, as well as what the risks, benefits, and limitations or those testing options are. Like the other poster stated, finding out this information before a pregnancy may help couples consider whether they want to still try to get pregnant naturally, consider in vitro fertilization with genetic testing of the embryos if they’re at a high risk for a particular genetic disorder, consider using egg or sperm donors, consider adoption, or choose not to have children.
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Ask The Experts About Genetic Counselors Pay
Steven asks…
Genetic Counselor?? down syndrome?
When I went into my 18 week scan on monday they had to tell me the bad news that my blood work produced more hcg than normal which put me in the range of 1/256 odds of having down syndrome. Originally it was 1/1400…
But after doing a detailed ultrasound scan they found no markers and put me at 1/900.
I still dont like that number.. I have been way to stressed out and I know its no good for me or the baby. I havent stopped crying, I even lost my apetite. They say dont be stressed out, but its easier said than done.
That being said I want to go to a genetic counselor.
What do they do? Do you have to pay? Do they give you a more realiable number as too what the chance is?
I dont know anything about them, I just heard of people having high risk deciding to go to a genetic counselor
THanks.
* i dont want a amneo
Idont like the odds.
I will have my baby regardless but the next 22 weeks is going to be too stressful.
I want to know the most I can about the chance of having a downs baby.
admin answers:
One in 900 odds is a slim chance that your child will be born with down syndrome. I know of a bunch of pregnancy of where they were sure that the child had something wrong and none did. There is always a chance that your child can be born with health problems. There is nothing that will change whether or not it happens. They don’t know for sure. I know of someone where they were told that their little one was going to most likely be downs, and was born perfectly fine. On the other hand my niece was born with a severe birth defect(caused by a syndrome – but not downs) that no one picked up until after birth. She had to undergo numerous surgeries and almost died after one of them. She’s still alive active and you can’t tell that anything is wrong with her (over 5 yrs), and is a blessing to have around. Worrying is only going to stress you and the baby out, and that is not good for either of you. Plus having a downs now a days is not what it was like years ago. Many of them can live independent lives and work. Please don’t despair so. Every child is a blessing!
Getting more testing done can just add to your stress & in the end you can end up with a perfectly fine baby. No one knows whats going to happen in the future.
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Genetic Counseling Abroad At Affordable Cost – Genetic Counseling Cost
Genetic Counseling India
Genetic Counseling
If you and your partner are newly pregnant, you may be amazed at the number and variety of prenatal tests available to you. Blood tests, urine tests, monthly medical exams, diet questionnaires, and family history tracking — each helps to assess the health of you and your baby, and to predict any potential health risks.
Unlike your parents, you may also have the option of genetic testing. These tests identify the likelihood of passing certain genetic diseases or disorders (those caused by a defect in the genes — the tiny, DNA-containing units of heredity that determine the characteristics and functioning of the entire body) to your children.
Some of the more familiar genetic disorders are : -
Down syndrome Cystic fibrosis Sickle cell disease Tay-Sachs disease (a fatal disease affecting the central nervous system)
spina bifida…
What Is Genetic Counseling ?
Genetic counseling is the process of : -
Evaluating family history and medical records Ordering genetic tests Evaluating the results of this investigation Helping parents understand and reach decisions about what to do next
Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders….
What are Genes ?
Humans have 46 chromosomes, arranged in pairs in every living cell of our bodies. When the egg and sperm join at conception, half of each chromosomal pair is inherited from each parent. This newly formed combination of chromosomes then copies itself again and again during fetal growth and development, passing identical genetic information to each new cell in the growing fetus.
Current science suggests that human chromosomes carry from 25,000 to 35,000 genes. An error in just one gene (and in some instances, even the alteration of a single piece of DNA) can sometimes be the cause for a serious medical condition….
About Genetic Counselors
Genetic counselors are professionals who have completed a master’s program in medical genetics and counseling skills. They then pass a certification exam administered by the American Board of Genetic Counseling….
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The History Behind Down Syndrome Genetics
One in 1,000 American babies is born with the Down syndrome genetic condition, although it is estimated that 90% of the mothers who receive an early diagnosis choose abortion. There are many fallacies about people with Down syndrome that scare parents into making a rash decision. Most adults with Down syndrome live independently, marry, have jobs and live past their fifties nowadays.
There are many ways the genetic data of Down syndrome can be damaged or rearranged. For example, in trisomy 21, one parent has two chromosomes located at chromosome #21, rather than one, causing the child to receive two chromosomes from one parent and one from the other parent for a total of three. The Down syndrome child will then have 47 chromosomes, instead of 46. This occurs in 90% of all Down syndrome cases.
With Mosaic syndrome disorder, chromosome 21 gets damaged during cell replication, where two normal chromosomes become three in some cells. People with this disorder have some cells with 46 chromosomes and some cells with 47 and their symptoms may be less severe.
This occurs in 2% of all Down syndrome cases. The last type of Down syndrome is called Translocation and occurs when a normal chromosome breaks into two pieces and attaches to another chromosome. This occurs in 3-4% of all Down patients.
Prior to pregnancy, parents can meet with a genetic counselor to determine their risk of passing on a Down syndrome genetic code. Sometimes disorders run in the family, if more than one person has the condition. In other cases, mothers over the age of 35 may have an increased risk for having Down syndrome babies or, in rare instances, environmental factors can play a part.
Some Down syndrome research suggests that smoking while being on birth control can cause the syndrome, although it is debated in some circles. Once pregnant, a woman can go for ultrasound, non-invasive blood tests or undergo amniocentesis for a more accurate assessment.
The severity of Down syndrome varies greatly from person to person. There is not much Down syndrome genetic research on the specific differences between trisomy 21, Translocation and Mosaic syndrome, at present. However, a 1991 report suggested that children with Mosaic syndrome had a mean IQ of 12 points higher than children with typical Down syndrome.
Yet some children with typical Down syndrome still scored higher, which underscores the uniqueness of every child. The Department of Human Genetics at the Medical College of Virginia reported that children with Mosaic syndrome reached their motor milestones earlier than children with typical DS, but speech development was equally delayed in both test groups.
Genetic Testing Kit
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