Top
20
Doctor insights on: Williams Syndrome Genetic Counseling

Share
1

1
Is genetic counseling an option for Williams syndrome?

Is genetic counseling an option for Williams syndrome?

Confusing question: I believe genetic counselling is a worthwhile investment for anyone considering pregnancy. Analysis of the family tree on both sides will occasionally turn up some interesting problems, in addition to any previous issue with a pregnancy. All pregnancies have ~ 4% risk of unexpected outcome (premi,defect, illness, etc.) and knowing what your added risks are and ways to monitor them make sense. ...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


2

2
Is genetic counseling an option for down syndrome?

Is genetic counseling an option for down syndrome?

Knowledge is power: Having up to date information about any long term condition will help any parent make plans for the kid involved. A genetic counselor can provide access to specifics about the kid, the specific form of ds (there are at least 3) & also provide answers that the extended family may have. Some of this data can be supplemented by the different support groups that have formed, but i recommend gc for all. ...Read more

3

3
What is the purpose behind genetic counseling?

What is the purpose behind genetic counseling?

Several reasons: There are many reasons. One is to understand the chance of a child inheriting the disease. Is it 50% like in huntington's disease? Is it 25% as in a recessive gene? If the gene is sex-linked, the percentages become much more complex depending on the baby's sex. Another reason is to understand the ramications of a positive test. What does this mean to the person? Is that person now uninsurable? ...Read more

4

4
What's the role for genetic counseling when genome testing?

What's the role for genetic counseling when genome testing?

Website: Go to www.Genome.Gov and on the right side scroll down to "genetic disorders faq" and click on it for a pretty complete reference site. In the list on the left pick "faq about genetic counseling". You may get there directly by going to: www, genome.Gov/19016905. ...Read more

5

5
Can you have genetic counseling for any psychiatric diseases?

Can you have genetic counseling for any psychiatric diseases?

Yes: Many adult psychiatric disorders, including schizophrenia and bipolar disorder, have a partially genetic foundation. As more causative or contributing genes are discovered, the importance of a genetic counseling in psychiatry will grow. Genetic counseling can support families by enhancing reproductive decisions, preventing misconceptions about causation, and preventing stigmatization. ...Read more

See 2 more doctor answers
6

6
Is genetic counseling recommended for those diagnosed with eds?

Is genetic counseling recommended for those diagnosed with eds?

Not always: If detailed family history, physical exam, echocardiogram all indicate eds type 3 with certainty it is not necessary. ...Read more

See 1 more doctor answer
7

7
When must I get genetic counseling for my baby's genetic disorders?

When must I get genetic counseling for my baby's genetic disorders?

Using the site: You get the most out of this site when you provide specific background information and ask a related question. In this case it would help to know what condition you are concerned about. You are welcome to start over with this or other questions. Your posts are not linked so each must be complete. ...Read more

See 1 more doctor answer
8

8
What is the difference between genetic counseling and genetic testing?

What is the difference between genetic counseling and genetic testing?

Goals: Genetic counseling is a discussion of a genetic condition with a patient to determine the likelihood the patient may carry a particular gene. Counseling will take into account family history, physical traits, and race. Counseling also includes the pros and cons of being tested, and what actions may be possible based on the test results. Testing is usually by a blood or spit sample. ...Read more

See 1 more doctor answer
9

9
I lost my last my last two pregnancies in 4th week abruptly. Should I get genetic counseling?

Yes: Genetic counseling and chromosomal analysis for both parents is recommended. A parent could carry a balanced chromosomal abnormality leading to a high risk of having fetus with an unbalanced chromosomal rearrangement resulting in early miscarriage or malformations in the fetus. ...Read more

See 1 more doctor answer
10

10
Hi does any body know anything about who should get genetic counseling for huntingtons chorea?

Ass below: Best way to find is to see a neurologist, genetic disorder specialist. They have to consider lot of factors before considering expensive genetic testing, particularly for family planning. ...Read more

12

12
Should I get genetic counseling?

Yes: More and more genetic information is available every day. For people who are trying to conceive, genetic counseling can help you have a healthier pregnancy by making you aware of possible risks and recommending appropriate genetic tests. These days, it is possible to prevent transmission of genetic mutations and disease via pgd: preimplantation genetic diagnosis. More info at www.Sbivf.Com. ...Read more

See 1 more doctor answer
13

13
What happens during genetic counseling?

What happens during genetic counseling?

Long History: You can expect a long appointment that goes into depth on you and your partners family history. Your personal risks will be evaluated and a detailed family tree built if there are any inherited conditions in the family. Tests such as blood tests, ultrasound, amniocentesis and cvs will be explained if ti relates to pregnancy. Other tests will be explained if it is related to gyn cancers. ...Read more

14

14
What's the purpose of genetic counseling?

What's the purpose of genetic counseling?

Information sharing.: Genetic counseling helps the uninitiated to understand aspects of the exploding field of human genetics, as they pertain to personal and/or family history of inherited disorders, or to potential risks for vertical transmission of pathogenic traits across generations. It helps choose (or not) appropriate testing to confirm or refute a particular genetic condition and to thus prevent complications. ...Read more

15

15
What are the pros and cons of genetic counseling?

What are the pros and cons of genetic counseling?

Mostly pros.: Pros: information about reproductive options, genetic risks and testing availability and cost. Cons: confusion of couples not interested in prenatal diagnosis or reproductive options. ...Read more

16

16
How long are genetic counseling sessions normally?

One hour or more : Genetic counseling sessions involve taking a history, constructing a pedigree and examining the patient. Often specific test have to be ordered prior to arriving at a definitive diagnosis. This may require followup appointment. Only then can the genetic implications be discussed with the patient. The information is summarized in a letter to the referring physician and the patient. ...Read more

See 1 more doctor answer
17

17
What are some of the benefits of genetic counseling?

Information!: Genetic counseling is supposed to give information about testing and treatment/management options for the very complex and life-long genetic disorders many families are faced with. ...Read more

18

18
I want my entire genome done. Do I need to get genetic counseling?

Why and Yes: Yes, you should seek genetic counseling if you are contemplating on getting your genome sequenced. Please note sequencing does not usually provide usable information unless targeted to a specific question. ...Read more

19

19
Is it reasonable to use genetic counseling to help a person with progeria?

Is it reasonable to use genetic counseling to help a person with progeria?

Absolutely!: Even though progeria isn't known to be directly inherited from parents, it still rarely occurs in more than one child and is a genetic disease. Genetic counselors/geneticists will probably give you the best education you will get about this disorder. Our understanding of genetics is always improving. As scientists learn more, having a connection with genetics may be even more valuable you. ...Read more

20

20
What are the differences between genetic screening and genetic counseling?

What are the differences between genetic screening and genetic counseling?

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 & to women with + prenatal screens. ...Read more

Dr. Fred McCurdy
63 doctors shared insights

Williams Syndrome (Definition)

Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more


Dr. Richard Roberts
376 doctors shared insights

Genetic Counseling (Definition)

Modern genetics allows us to understand how genetic diseases are inherited based on DNA, genes, and chromosomes. We can now test couples and fetuses for certain inherited disorders, such as cystic fibrosis, as well as other chromosomal and genetic abnormalities, ...Read more