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Doctor insights on: Genetic Testing

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Dr. Katherine Sutherland
1,231 doctors shared insights

Genetic Testing (Overview)

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 answer some important questions


Dr. Ira Salafsky
Board Certified, Clinical Genetics
51 years in practice
53K people helped
1

1
What is the earliest week that I can have genetic testing for downs?

Dr. Ira Salafsky
Board Certified, Clinical Genetics
51 years in practice
53K people helped
What is the earliest week that I can have genetic testing for downs?

After 10 weeks: First trimester screening for down syndrome is done at 11 to 13 weeks. Definitive diagnosis through cvs sampling and chromosomal analysis can be done after 10 weeks. ...Read more

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Dr. Cindy Juster
Board Certified
31 years in practice
2M people helped
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Dr. Cindy Juster
Board Certified
31 years in practice
2M people helped
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Dr. Katherine Sutherland
1,231 doctors shared insights

Genetic Testing (Overview)

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 answer some important questions


Dr. Pam Yoder
Board Certified, Maternal-Fetal Medicine
11M people helped
2

2
If our baby passes genetic testing, does that mean it will be born without genetic defects?

Dr. Pam Yoder
Board Certified, Maternal-Fetal Medicine
11M people helped
If our baby passes genetic testing, does that mean it will be born without genetic defects?

No: Unfortunately having a normal serum screen does not mean that a fetus has no genetic abnormalities. Even genetic amniocentesis will not test for all conditions a baby might have at birth. These tests combined with an expert ultrasound around 18-22 weeks can help rule out congenital anomalies and genetic disorders. But testing can't tell parents with 100% certainty if their child will be normal. ...Read more

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Dr. Cindy Juster
Board Certified
31 years in practice
2M people helped
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Dr. Cindy Juster
Board Certified
31 years in practice
2M people helped
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Dr. Eric Farbman
Board Certified, Neurology
21 years in practice
379K people helped
3

3
What are the disadvantages and advantages of getting genetic testing done.?

Dr. Eric Farbman
Board Certified, Neurology
21 years in practice
379K people helped
What are the disadvantages and advantages of getting genetic testing done.?

Genetic counselor: You should talk with a genetic counselor regarding the specific disease(s) you are worried about. The pros include being able to plan for long-term, reproductive issues, and maybe getting into a clinical trial. The cons include depression or worse with a positive test, not knowing when the disease will strike, and possibly affecting your ability to be insured (even it shouldn't). ...Read more

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Dr. Ira Salafsky
Board Certified, Clinical Genetics
51 years in practice
53K people helped
4

4
Can you force a family member to get genetic testing?

Dr. Ira Salafsky
Board Certified, Clinical Genetics
51 years in practice
53K people helped

No: An individual must give permission to have genetic testing performed. Carrier testing for genetic disease is usually not done in children until they are able to give informed consent. ...Read more

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Dr. Cindy Juster
Board Certified
31 years in practice
2M people helped
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Dr. Lester Thompson
Board Certified, Pathology
28 years in practice
1M people helped
5

5
Can you please discuss the of the social and ethical issues involved in genetic testing?

Dr. Lester Thompson
Board Certified, Pathology
28 years in practice
1M people helped

Many: What do you do with the results? Do you abort a child because they have a genetic disorder that will decrease survival -- but not kill them? If you know someone has a genetic disease, do you allow them to get married? Have children? Do you offer treatments (organ transplant) to someone you know will have. ...Read more

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Dr. Ed Friedlander
Board Certified, Pathology
39 years in practice
137M people helped
6

6
What are the pros and cons of getting genetic testing done on myself? Just curious.

Dr. Ed Friedlander
Board Certified, Pathology
39 years in practice
137M people helped
What are the pros and cons of getting genetic testing done on myself? Just curious.

Be specific: If a close relative has a known genetic disease, you have a duty yourself to know whether you carry it. If you are from a population with a lot of sickle cell disease, you owe it to yourself and the person with whom you plan to have children to know whether you have the trait. That's all you'll want. Good luck. ...Read more

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Dr. Johanna Fricke
Board Certified, Developmental and Behavioral Pediatrics
45 years in practice
16M people helped
7

7
My son had genetic testing when he was 2. I just read about 22q11.2 deletion syndrome. Would that be detected from standard genetic testing?

Dr. Johanna Fricke
Board Certified, Developmental and Behavioral Pediatrics
45 years in practice
16M people helped
My son had genetic testing when he was 2. I just read about 22q11.2 deletion syndrome. Would that be detected from standard genetic testing?

It would now, from a: Chromosomal Microarray, molecular genetic testing that is standard of practice for geneticists & developmental pediatricians for infants & children with developmental delays &/or Autistic Spectrum Disorder. A standard karyotype would not have identified a small sequence of deleted genes at 22q.11.2., only a FISH test of Chromosome 22 in the VCF region., done if there was clinical suspicion. ...Read more

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Dr. Mazin abdullah
Board Certified, Fertility Medicine
10 years in practice
784K people helped
8

8
To what extent is genetic testing successful?

Dr. Mazin abdullah
Board Certified, Fertility Medicine
10 years in practice
784K people helped
To what extent is genetic testing successful?

Rephrase: What do you mean by successful? Accuracy of genetic testing? Are you talking about genetic testing of an embryo? Genetic testing of an adult? What type of genetic testing? Please re-write question and we can give you a more accurate answer. ...Read more

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Dr. Ellen Altenburg
Board Certified, Pediatrics
26 years in practice
1M people helped
9

9
Can you tell me about genetic testing what company would work since I'm not looking for relatives.?

Dr. Ellen Altenburg
Board Certified, Pediatrics
26 years in practice
1M people helped
Can you tell me about genetic testing what company would work since I'm not looking for relatives.?

Unsure: I've heard mixed reviews on tests like AncestryDNA. Not really something a physician would recommend. I'd research it first. ...Read more

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Dr. Gurmukh Singh
Board Certified, Pathology
44 years in practice
96M people helped
10

10
Is genetic testing necessary for CMT diagnosis?

Dr. Gurmukh Singh
Board Certified, Pathology
44 years in practice
96M people helped
Is genetic testing necessary for CMT diagnosis?

No: Diagnosis can be made by other means, though genetic testing will provide confirmation and pin point the defect. See this site for more info. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001741/. ...Read more

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Dr. Cindy Juster
Board Certified, Pediatrics
31 years in practice
2M people helped
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