Doctor insights on:
Abnormal Female Karyotype
Had a bone marrow asp and biopsy. Said abnormal female karyotype and these numbers in order. Add (14) (q22) (20). It was never explained. Could you help?
Need mor einformatio: You need to tell us about what made you go to see your doctor in the first instance and why was a bone marrow done? Unless you have some blood disorder, we can not interpret your chromosomal change (karyotype). You will be better off asking your doctor what it means now that he has given you this worry some report. ...Read more
Wife pregnancy was terminated in 3rd month and karyotyping shows chromosomal analysis of poc is found abnormal 47, --+21. Is it will solve next time?
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?
3 early MCs & chromosomal abnrml in all fetuses (no birth), is karyotyping of parents the only genetic testing tht can be done? Names of any other pls
It's the starting pt: Parent study comes first. A person can appear normal if they carry all the proper chromosome material but with part belonging to one chromosome swapped with another. (ie, part of a #15 is on #21) When fertilization occurs, the fetus may get part of the mistake and not the other & be defective. Some of these have a partial chance of normal birth, some would always end up a defect. See a geneticist. ...Read more
Chromosome study: A karyotype is a visual presentation of the chromosomes present in each cell, usually derived from blood lymphocytes. The cells are grown in tissue culture, then arrested in the stage of separation (mitosis), then dropped on a glass slide from about 2 feet, which breaks them open; a dye is added to make stain them, a photo taken, then arranged into their 23 pairs, then studied for anomalies. ...Read more
Karyotyping is a test to examine chromosomes in a sample of cells, which can help identify genetic problems as the cause of a disorder or disease. This test can:
•count the number of chromosomes
•look for structural changes in chromosomes
the test can be performed on almost any tissue, including:
•placenta. ...Read more
One sample at a time: A blood sample is spun down and the white cells are separated into at least 3 tissue culture media sets. An amnio sample is spun down, the cells resuspended and divided into three tissue culture sets. Of primary importance: only one sample is ever set up at a time. No other sample is near another until the cultures have been completely set up and labeled. That prevents mixing up two babies by mistake ...Read more
What happens if we assume that the vitiligo is generic disorder then can we check if it's a dominant, recesive and carrier etc. Using karyotyping.?
Autoimmune: Vitiligo is usually considered an autoimmune problem. If you want to find out whether it is genetic, you will need to get a detailed history on family members with this problem. I am not aware of any genetic markers uncovered thus far. Nonetheless if there has been no history of such a disorder among your immediate family members within 3 generations, genetic study would be meaningless. ...Read more
Not always: The decision to do an amniocentesis in order to do karyotyping is a personal decision and carries up to a 1 in 200 miscarriage rate. The information obtained would classically be used to decide upon termination or not as there is no treatable or correctable chromosome abnormality. At 35 years old and above, the risk of a chromosome defect is 1 in 200 or greater. ...Read more
What's my chance to have normal baby if me or my husband have balanced translocation&we already had a ds baby? We didn't do karyotyping yet though
Genetic counselor: You need to have a karyotype done before you can determine your risk. It would be very important for you and your spouse to see a genetic counselor to be able to better understand your risk. ...Read more
It stops clotting...: ...Without damaging or killing blood cells.Get a more detailed answer ›
Yes, but...: A karyotype is an expensive test - about $2000 dollars depending on what lab it is sent. Check with your insurance to see if they require pre authorization (ie approval for the diagnosis that your doctor is using the test for). If you have the test done without pre authorization on most plans, they would not cover it, and then the patient is responsible for the fees. ...Read more
Are there karyotyping like genetic level tests to confirm if a couple is compatible & will certainly have healthy children if they plan for pregnency?
Not really: There are no guarantees of compatibility or healthy children. The best thing to do is make sure that you and your partner are healthy and get early prenatal care if she becomes pregnant. If she intends to get pregnant, have her start taking a Folic Acid supplement (found in many vitamins) before she conceives. ...Read more
For what reason antibiotics are used in preparation of media for karyotyping using giemsa banding?
Basically tissue: Culture, antibiotics used to prevent bacterial contamination during the cell growth prior to the preparation of the karyotypes. ...Read more
What's my chance to conceive with ds baby if me or my husband have the balanced translocation in karyotyping?
See geneticist: The best way to answer this question is to see a professional geneticist who can plot a family tree, consider your age, and calculate your risk based on your balanced translocation or your husband's. ...Read more
When karyotyping test to be done. I just had abortion. Is it to be done just before planning for pregnancy or immediately after abortion?
Talk with your OB-GY: That is a good question. I know your ob-gyn can better answer for you. ...Read more
My daughter was diagnosed with t cell all last year. Her karyotyping :abnormality in t (11;14) (p13;q11.2). Is there a targetted therapy for lmo2 issues?
Not yet: Gamma c gene inserted in scid patients; could cure the immune deficiency. But the two, gamma c gene was inserted close to lmo2 gene (considered oncogene) which gets activated with gamma c gene insertion - causing increased proliferation on t cells (causing t cell leukemia). Studies/ research on its way to target lmo2 gene. ...Read more
2 early MCs, heartbeat seen in 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & antiphosopolipid normal. Way fwd? More tests?
Try again: Abnormal chromosome patterns are seen in many of the MC's studied, so this would not be unexpected. If both you and spouse have been karyotyped & normal, you are not carrying a translocation that would doom you both to expect MC's.Consult the clinical genetics department at Toronto Children's if you have not already and see if their is anything more they recommend. ...Read more
3 early MCs no live birth. 32yrs. All tests normal autoimmune, antiphosopolipid, hormonal, karyotyping. Turner's in 1 fetus. Should we try again & how?
Yes: Don't give up, get followed by infertility/hi risk obstetrics doctor, at one point a medical geneticist input might be needed. For genetic / chromosomal disorders. PIGD, Pre- Implantation Genetic Diagnosis can be resorted to so as not to implant an embryo with a known major genetic/chromosomal disease, good luck ...Read more
My pregnancy was terminated in 2nd month and karyotyping of foetus shows monosomy of chromosome 20.What are the chances of its recurrence.
Unlikely: Based on your age it is unlikely. You are at higher risk than other women your age but yet it is still unlikely you would have another baby with the same genetic issue. ...Read more
2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?
Maternal fetal medicine: Specialist is what you need with your high risk pregnancies, if you don't have one available in your area please seek advice in a teaching hospital ...Read more
If parents' karyotyping is normal, what are the chances for recurrent early miscarriages due to chromosomal problems in fetus? Pls answer as clearly
Ans: There is always a possibility of a mutation. This cannot be predicted. However just because on the outside you are normal does not mean you do not carry a recessive gene. You and your partner can have gene mapping. But again remember thecwayvthe chromosomes line up is chance. But if you have abnormal genes you can put a percentage on the chance of that gene showing up. Again all a toss of the coin ...Read more
3 early MCs no live birth 32yrs old. Parents karyotyping normal but fetus showed turner's once & trisomy14 next one. Way fwd pls list tests/precaution?
Talk with your DR:
Your question is better directed to the genetic counselor that you have seen,
Also your _DR will be able to give your more accurate information then we are able to give you in this format. ...Read more
3 miscarriages. Fetal karyotyping normal. D&c revealed uterine septum, but have healthy 7 y/0. What tests should i/we have next? $ is an issue.
Depends on you: To some extent you already have a good deal of information. You know that you can carry a baby to a healthy delivery. You also know you have a structural uterine defect that may cause a miscarriage. I'm not aware if they could reduce or remove your septum, or if such surgery would help. That may be a reasonable thing to discuss with your doc. ...Read more
Wife--tubal reversal in 07. 13 miscarriages/ 1 tubal. Dna karyotyping &autoimmunity normal. How would genetics effect this? Blood types me a- / her o+.
MTHFR?: Have they tested for the mthfr 677 ; 1298 genotypes yet? It is a very common cause of infertility and neural tube defects leading to miscarriages. The more abnormal genes you have, the worse the problems can be. Can treat with bellevue pharmacy "s8"supplement (msg for details).Also check her for antibodies to sperm. Would need ivf if +. Blood type could be an issue (abo incompatibility) rh is ok! ...Read more
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