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Doctor insights on: Can Holoprosencephaly Be Detected Early By Any Genetic Testing

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Can holoprosencephaly be detected early by any genetic testing?

Can holoprosencephaly be detected early by any genetic testing?

Yes: It can be detected during the pregnancy, but by the mean of the obstetrical ultrasonography and depends on the skills of the technician performing the procedure. The other screening tests performed during pregnancy, may predict some of the chromosomal disorders, associated with holoprosencephaly, such as trisomy 13. ...Read more

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Dr. Scott McLean
1,240 doctors shared insights

Genetic Testing (Definition)

Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more


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What other genetic problems might someone have if they have a child with holoprosencephaly?

What other genetic problems might someone have if they have a child with holoprosencephaly?

Maybe none: If I am understanding the question correctly, you're asking if someone who has a child with holoporsencephaly has genetic problems themselves. As dr ferfuson said, this problem is sometimes associated with genetic problems *in the kid.* children with these types of problems can be born from perfectly normal parents. It just happens. To be sure, parents can get tested if they want. ...Read more

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3 early MCs & chromosomal abnrml in all fetuses (no birth), is karyotyping of parents the only genetic testing tht can be done? Names of any other pls

3 early MCs & chromosomal abnrml in all fetuses (no birth), is karyotyping of parents the only genetic testing tht can be done? Names of any other pls

It's the starting pt: Parent study comes first.A person can appear normal if they carry all the proper chromosome material but with part belonging to one chromosome swapped with another.(ie, part of a #15 is on #21) When fertilization occurs, the fetus may get part of the mistake and not the other & be defective.Some of these have a partial chance of normal birth, some would always end up a defect.See a geneticist. ...Read more

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Can genetic testing ever be wrong?

Can genetic testing ever be wrong?

Sure: Genetic testing can be wrong due to many possible problems: mixed up specimens from someone else; degraded dna that can't be analyzed; lab errors in procedures; errors in reporting the results. You should always check on the lab and go over the diagnoses with a physician who knows you and as appropriate with a genetic counselor. A lot of this testing is highly automated, but can still have error. ...Read more

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How much does genetic testing cost?

How much does genetic testing cost?

Depends: It really depends. If your affected family member(s) have already had detailed testing, testing for you can cost just a few hundred dollars, depending on what kind of syndrome. If you are "fishing" for a diagnosis, this can costs many thousands of dollars. Generally genetic tests should be done only if there is a specific question that you and your doctor are trying to answer. ...Read more

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Can you tell me is genetic testing a waste?

Can you tell me is genetic testing a waste?

Depends on situation: Some genetic tests are detailed, specific and allow you to know what to expect from the patient in the future. Chromosome studies, fish probes for diagnostic markers, etc provide information early that allows early detection and treatment of silent problems.Other studies are less specific and only suggest an increased risk for some condition.Value is in the eye of the person seeking information. ...Read more

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How seriously should I take health information obtained from 23andme genetic testing?

How seriously should I take health information obtained from 23andme genetic testing?

Still lots to learn: I believe genetic testing will be an extremely important and standard tool in the future. There is evidence that tests like this can tell whether you are more or less susceptible to many diseases. That said, genetics alone do not determine health risks; diet and lifestyle often play a larger role; fortunately, 23andme acknowledges this & discusses what is known about this. Please see my comment:. ...Read more

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Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

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Can they do genetic testing for sexual orietation?

Can they do genetic testing for sexual orietation?

No: No genes are really known, and hopefully the day will never come when a parent would choose to end a pregnancy because they don't like the kid's hair color, eye color, sexual orientation (however much of this is genetic), height, musical talent or whatever. ...Read more

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Is genetic testing for adrenoleukodystrophy possible?

Is genetic testing for adrenoleukodystrophy possible?

Yes: Because adrenoleukodystrophy is a genetic condition, there are tests for it. You can find some good information about the disorder, testing and centers that are experts in the disorder at the national organization for rare diseases (nord). Their web site is www.Rarediseases.Org. Disorders are listed alphabetically, along with hospitals/providers that have special expertise in the disorder. ...Read more

Dr. Chevies Newman
1,113 doctors shared insights

Premature (Definition)

Very premature is a condition in which a baby is delivered between 28 and 31 weeks' gestation. Depending on how premature, how sick, and how lucky or unlucky a baby is, he can get brain problems, cerebral palsy, blindness, deafness, developmental problems, learning disabilities, severe lung diseases, infection and loss of some intestines, etc... Babies who are only moderately premature usually ...Read more


Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more