Doctor insights on:
Preimplantation Genetic Diagnosis Scientific Perspective
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
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
Sure: Here is a link to the international society of psychiatric genetics: http://www.Ispg.Net/. Also, the field of developmental neuropsychiatry covers much of what is known relative to psychiatric disorders with developmental origins. One of my mentors at the johns hopkins kennedy krieger institute, dr. James c. Harris wrote an excellent book on the subject. ...Read more
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
Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?
What are the options for individual genetic testing like seeing counselor vs geneticist, doing genome, etc?
Molecular Methods: Identifying alleles associated with disease can be done by numerous different methods depending on the type of genetic alteration. Gene sequencing is often the gold standard. However, for disease caused by deletion or insertion of a segment of DNA, a technique called Fluoresense In Situ Hybridization is used. For detection of single base pair changes numerous different techniques can be used ...Read more
NO: Icsi is a technique to insert the sperm into the egg. Icsi solves the problem of sperm that cannot penetrate the cumulus cells, zona pellucida (shell around the egg), and the egg membrane itself. Icsi is not a genetic treatment of any sort. Genetic ivf treatment is called preimplantation genetic diagnosis (pgd) or screening (pgs). I hope this brief answer helps. ...Read more
What type of conditions would be acceptable by IVF clinic to perform pre-implantation genetic dx? Does fh or autism in family provide basis for pgd?
1) If your relatives: With autism have a heritable genetic syndrome (e.g., fragile x ) or a copy repeat error on microarray known to cause autism 2) "advanced maternal age" (35 & >, ) increases risk of down syndrome & other chromosomal abnormalities 3) "advanced paternal age, " increases risk of new mutations & autism. Babies born by ivf have a higher incidence of autism than those conceived without assistance. ...Read moreSee 1 more doctor answer
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
Counseling on risks: Genetic counseling is counseling of an individual or a family regarding risks of an inherited condition in themselves, their children, or other family members. Counseling session discusses the probabilities of a genetic condition, and options to diagnose or prevent an of inherited disease. It is typically done by a certified genetic counselor (ms, cgc) or a clinical geneticist (md). ...Read moreSee 1 more doctor answer
Often incomplete: A pedigree is a standard diagram of your family history, using squares for males, circles for females, joining lines for marriage and offspring. Traits/diseases are indicated by marking the circles or squares, the patterns revealing inheritance mechanisms. Accuracy depends on completeness of family information and the knowledge/experience of the historian/interpreter (think clinical geneticist). ...Read more
No, it is fiction: The origin of this appears to be an animated tv show from the 90's "daria". People with purple eyes, hairless except the scalp, with white shimmering skin do not exist in nature. ...Read more
Yes, partially: Learning disorders have a small genetic contribution. Therefore, if your parents have/had a learning disorder, you would have a greater chance of also having a learning disorder than someone whose parent did not have a learning disorder but it only increases the odds minimally. ...Read moreSee 1 more doctor answer