Doctor insights on:
Mandatory Genetic Screening
Yes: Check with your rei specialist for details, but all ovum donors would be asked to report a detailed family history and would be tested for common recessive disorders, such as cystic fibroisis. Many programs would also request more extensive testing including a panel of 100 such recessive diseases, including such problems as spinal muscular atrophy, the askenazi jewish panel, fragile x, & more. ...Read moreSee 1 more doctor answer
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
Not necessaraly: Early pregnancy screening for such things as down syndrome and open spine defects is part of the fabric of good prenatal care. It provides information to physician & parent about possible complications of pregnancy that allows planning for a complex outcome. I don't know any OB that would require you be screened, but most would want you to sign a waver acknowledging your decision not to have it. ...Read more
For significant risk: It is not a routine test for everybody with breast cancer. However, if you have significant risk with more than one family member having breast cancer or ovarian cancer , at younger age especially or multiple other type of cancers in the family- a brca 1 and 2 analysis would be something that routinely be done to rule out breast-ovary hereditary syndrome. ...Read moreSee 1 more doctor answer
Yes: BRCA testing can be performed from either blood or saliva. A significant amount of DNA needs to be present for adequate testing so most companies require more than a finger stick blood draw. Usually a single blood tube containing 3 ccs of blood is adequate ...Read moreSee 2 more doctor answers
Yes: If you have a strong family history of colon cancer in several 1st degree relatives, you may be a candidate for genetic testing, however if the test is negative it just means you do not have a genetic predisposition to colon cancer. 80% of colon cancers occur in individuals with no family history and hence would have a negative genetic test. ...Read moreSee 2 more doctor answers
Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?
Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more
Sev. Dev. Delay -array comparative genetic hybridization (acgh) results indicate no abnormalities- would full genetic sequencing be advised (knome)?
Not necessarily: Newer genetic tests provide incite into a variety of issues like autism & other developmental variations.Yet causation remains elusive in many cases.Sadly, an injury to the developing brain centers from an unrecognized event in an otherwise normal pregnancy is a likely cause for many.This occurs in at least half of cerebral palsy cases & dev.Delay could be produced in others, yet hard to prove. ...Read more
Offered .. sometimes: Alzheimer disease is a condition for which we have several genetic tests - apoe e4, app, psen1, & psen2. However, these tests are not used to establish the diagnosis of alzeimer disease. Instead we use them sometimes to help understand inheritance & risk, which is rather tricky. Extensive eduation & genetic counseling are very helpful, but the decision to test or not test should always be yours. ...Read more
Important: Family history of cancer is very important information. If your family history of colon cancer is significant ( multiple family members with colon cancer especially at younger age) -then you would need to be screen for colon cancer- started approximately 10 years earlier than the age of the youngest person in the family got diagnosed with colon cancer.You also need to see a genetician if history +. ...Read moreSee 1 more doctor answer
Early treatment: Early detection of scid will permit early treatment to avoid life threatening complications. A baby with scid is born with transient immunity from mom from the placenta. However, this material disappears leaving baby at risk for invasion infections. Scid babies will not develope antibodies to germs and fight them off.Early detection allows for treatment to avoid catastrophic illness. ...Read moreSee 1 more doctor answer
Examples are: colonoscopy for colon polyp or cancer; mammograms for breast lesions or cancer; psa a blood test that could indicate enlargement of cancerous prostate tissue; blood sugar or hemoglobin a!c for diabetes. Many think that scanning the whole body will pick up a cancer--in all likelihood, it will not. There also is no good blood test, yet, ...Read more
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