Doctor insights on:
Treatment Of Prothrombin Factor 2 Gene Mutation During Pregnancy
3 MCs no live birth. 2 MCs turner's & trisomy14 in fetus. Parents karyotyping normal. What other genetic tests shld be done. Risk of abnormal child ?
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
What is the difference in gene sequencing tests vs gene deletion/duplication tests? Should one type of genetic test be done before the other?
Depends: Sequencing is like reading war and peace letter by letter, and deletion/duplication testing is like seeing if a chapter is completely missing or present as an extra copy. Which first? Depends on the condition. For duchenne muscular dystrophy, look for deletions first. For brca, sequence first. Your clinical geneticist can discuss the strategy with you. ...Read moreSee 1 more doctor answer
Preg loss of chromosome normal embryo 2 weeks after cardiac activity detection w/ immunosuppressant, anticoagulant treatments. Chance of future success?
Probably good, but: Impossible to say without tests. Early loss is very common and usually does not increase the risk of happening again. You need to be examined and tested to determine if you have a risk for a second (or more) losses. Good luck. ...Read more
Is absence of HbA in 4 month baby (only has HbF and HbA2 ) a lab diagnosis of minor beta thalassemia or major beta thalassemia ?(educational question)
Beta Thalassemia...: Great info... https://en.wikipedia.org/wiki/Beta_thalassemiaGet a more detailed answer ›
Can my husbands thrombophilia be the cause of my early miscarriage?test result FGB heterozygote, PAI-1 heterozygote, ITGA2-alpha2 integrin homozygote.
Unknown: I am not aware of any data to answer your question. Women with thrombophila usually have normal pregnancies. ...Read more
What type of hematological malignancy itself would cause elevation in Antiphospholipid antibody ( aPL ) ?
Positive mthfr heterozygous after multiple miscarriages, known pernicious anemia, what is the likelihood of having other b vitamin deficiencies?
Not more likely but: Pernicious anemia is due to problems absorbing B12 but doesn't interfere with absorbing other vits.Mthfr mutations mean you have trouble converting Folic Acid to the active form, so take l-5-mthf.Genes don't affect absorption of other b vits but due to genetics some require higher amounts of b's than others-your other issues don't mean you're more likely to have this but it's safe to try b complex. ...Read moreSee 2 more doctor answers
Is a simple coagulation lab test (PT/PTT INR & Fibrinogen) sufficient to diagnose Protein C,
&/or Factor V leidmen mutation disorders?
Sister is MTHFR positive. Homozygous w/ 2 abnormal copies of c677t. So one from mom & dad. What are my odds of not having, being hetero or homozygous?
Possibly ¼ for not: Because your mother does not have a normal gene, she can only make eggs with a single copy of c677t, so you will receive one. If your father is heterozygous, your chance of being heterozygous is 50%; if homozygous,, you will be too. Consult a board certified clinical geneticist who will inform you of the evidence-based facts with regard to possible risks. There is much nonsense on the internet. ...Read more
Fetus's tissue testing on D&C (8 weeks and 2nd early MC) showed turners syndrome in the feutus. Future pregnancy implications of this? Any precautions
Generally no: In general, in each subsequent pregnancy, the chance of having another pregnancy affected by Turner syndrome would not be increased given that it occurs due to a random error in the splitting of chromosomes during the creation of sperm usually, though sometimes also the egg. Unlikely to recur in a first time case. ...Read more
Hemotologist confirmed Enoxaparin causing me to have elevated liver enzymes. 6w pregnant- history of PEs, Factor V, Factor II. Any other options?
Hla gene mutations predispose one to developing autoimmunity after viral &/or vaccine exposure...Why not screen for mutations before vaccinating us?
Vaccine-preventable : Infections trigger clinical symptoms of auto-immune disorders far more often & more severely than do vaccines. The who's criteria for assessing adverse reactions to vaccines, including autoimmune diseases, are the consistency, strength & specificity of an association, not just a temporal relationship. Image.Thelancet.Com/.../02art9340web.Pdf discusses current & future epidemiology ...Read more
Several possible: Genetic factors are thought to account for 5% of growth hormone deficiency. Three forms, an autosomal dominant, autosomal recessive or x-linked are known to exist. Without knowing if a genetic form is involved, or which subtype is present, it is hard to fully answer your question. ...Read more
Tumor: Monoclonal proliferation of lymphoid cells is usually an indication of tumor of the lymphoid tissue. ...Read more
What is the pregnancy success rate of d5 xfer of 8 cell embryo, if D3 biopsy showed normal xx genetics. Also, did D3 biopsy affect embryo growth rate?
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
When your due date arrives, you will be more than ready to have your baby! Most women deliver the baby somewhere between 37 and 42 weeks. According to the American College of Obstetricians and Gynecologists, only 5% of babies arrive on the exact due date. Approximately 7% of babies are not delivered by 42 weeks, and when that happens, it is referred to ...Read more
In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more
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