Question 1

what percentage of patients do prenatal genetic screening?

Accepted Answer

Unknown: There are no solid statistics on this issue.  If one is against pregnancy termination, then there is no need to do any prenatal testing at all as this testing is to indicate the risk of a defective infant.  It is a personal choice.

Question 2

what are the differences between genetic screening and genetic counseling?

Accepted Answer

Screening is done by: blood tests when family history, ethnicity or consanguinity confers risk of fetal inheritance of a mutant gene from both parents, thus, of having a disease. Screening  for genetic accidents that cause chromosome anomalies is offered to all pregnant women. Folks with inherited disorders are counseled about risk of transmission. The disorder is explained to them &amp; to women with + prenatal screens.

Question 3

are there many inherited conditions can be avoided through genetic screening?

Accepted Answer

Yes: Theoretically both partners could have their genomes tested for mutations known to cause genetic diseases.  All of us have many mutant genes and as long as both parties do not have defects in the same genes, they could avoid autosomal recessive disorders.  If dominant or sex linked defects are discovered, it would make genetic counseling and disease avoidance more difficult.

Question 4

in the future (10-20 yrs), what kind of genetic screening will be available to help parents know childrens liklihood of genetic/other disorders?

Accepted Answer

It already exists: There are genetic tests out there that look at different alleles and  give you some probability as to whether you may develop certain conditions later in life.  Whether this information is truly beneficial to the patient and whether you can modify risk knowing that information is all debatable.  Now, if you are talking about an expecting parent and genetic conditions in newborn there is screening

Question 5

is there an con against allowing parents to engage in genetic screening ?

Accepted Answer

Depends?: If parents are concerned about passing on a condition to potential children, it is not a bad idea. If you are concerned that your parents are wanting a test, well, that's a loaded question.  But i suppose if your mom or dad has something genetic, you may want to know about it.

Question 6

if a family member has ovarian cancer, can genetic screening determine if other family members will get the disease?

Accepted Answer

Yes: Ovarian cancer, especially pre-menopausal ovarian cancer is a rare disease and i recommend family members of such patients atleast have a genetics consultation to talk about testing.  Brca-1 and brca-2 mutations put women at a much higher risk of developing ovarian, breast and endometrial cancers.  More common in jewish women.  Hnpcc (lynch syndrome) also increases the risks of female cancers.

Question 7

both my partner and i are interested in doing a preconception checkup,we're also interested in a genetic screening as there is history of down syndrome.do you recommend going to a gp first,who do we consult? thank you!

Accepted Answer

Medical geneticist: A medical geneticist.often found affiliated with medical schools or children's hospitals would have the most up to date information on such risk issues.Their review would include an extended family tree from both sides &amp; possibly some other testing. Your local GP may know who/where to send you but I would not expect them to keep up with that specialized info. Your insurance plan may list a source

Question 8

during my preconception visit my dr. was really pushing genetic screening for before we start conceiving.  we  have no family history of genetic disorders and she said nothing stands out (other than cystic fibrosis since we are both caucasian). ?

Accepted Answer

See below: In addition to screening for cystic fibrosis, Indications for screening include,AMONG OTHERS, any one of the following:**A known or suspected hereditary disease in the patient or a family member; **Presence of birth defects, chromosomal abnormality, intellectual disability, developmental delay in a parent, a child, or the child of a family member**Ashkenazi Jewish ethnicity

Question 9

how many people get genetic testing and pre-screening?

Accepted Answer

Genetics: if there is a family history of genetic disorder in the families it is better that both get genetic testing done before getting pregnant. Most of these disorders are recessive hence only one parent may have the defect and the children would be fine if both parents have the same genetic defect then there is a 25 percent chance that the child would be affected. So it all depends on ethnicity.

Question 10

would a 2 y.o a with a severe metabolic disorder show symptoms usually by that age? he had newborn screening normal and genetic testic that normal.

Accepted Answer

Maybe: A severe metabolic illnes such as diabetes mellatus can devlop before age two.

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Doctor answers about:

Preimplantation genetic screening

A member asked:

What percentage of patients do prenatal genetic screening?

A member asked:

What are the differences between genetic screening and genetic counseling?

A member asked:

Are there many inherited conditions can be avoided through genetic screening?

A member asked:

In the future (10-20 yrs), what kind of genetic screening will be available to help parents know childrens liklihood of genetic/other disorders?

A member asked:

Is there an con against allowing parents to engage in genetic screening ?

A member asked:

If a family member has ovarian cancer, can genetic screening determine if other family members will get the disease?

A member asked:

Both my partner and i are interested in doing a preconception checkup,we're also interested in a genetic screening as there is history of down syndrome.do you recommend going to a gp first,who do we consult? thank you!

A member asked:

During my preconception visit my dr. was really pushing genetic screening for before we start conceiving. we have no family history of genetic disorders and she said nothing stands out (other than cystic fibrosis since we are both caucasian). ?

A member asked:

How many people get genetic testing and pre-screening?

A member asked:

Would a 2 y.o a with a severe metabolic disorder show symptoms usually by that age? he had newborn screening normal and genetic testic that normal.

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