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Genetic Test Catch Malformation
Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more
Would a standard genetic test detect 22q11.2 deletion syndrome? My son had genetic testing done at 2 yo.
Standard genetic ?: There are thousands of genetic related tests I am aware of and each has its uses for specific cases. A simple chromosome study would not pick up this deletion.A high resolution study would likely find it in most specialty labs.Some also do a specific study using a genetic probe.This is a question best answered by the folks who did the study in question. ...Read more
Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more
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 ?
Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?
No. : Pregnancy tests detect the presence of human chorionic gonodotropin (HCG) in the urine, which is not produced in autosomal dominant polycystic kidney disease. False positives can occur in very rare cases of gynecologic tumors, so a confirmatory test with other test kits and the physician are necessary. ...Read more
Does genetic/ chrosome testing detect metabolic disorders? How early are serious metabolic disorders usually detected? Usually by age 2?
Which HIV tests are considered genetic?what the meaning of genetic test?is HIV DNA PCR a genetic test?and what type of test can detect all HIV types?
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
Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?
Fetal abnormality: Cells in the amniotic fluid are fetal cells and any abnormalities in those cells reflect the genetic make up of the baby, abnormalities may be of maternal or paternal origin. ...Read more
Yes: It can be detected during the pregnancy, but by the mean of the obstetrical ultrasonography and depends on the skills of the technician performing the procedure. The other screening tests performed during pregnancy, may predict some of the chromosomal disorders, associated with holoprosencephaly, such as trisomy 13. ...Read moreSee 1 more doctor answer
Multiple tests...: There are multiple tests used to detect DiGeorge syndrome. The one preferred is comparative genomic hybridization(aCGH) to detect the 22p 11.2 deletion. It compares the patient's genome against another one used as reference.For more information and decision on further tests this should be consulted with a Genetics specialist. ...Read more
Not sure: A lot depends on the situation for which the test was done and what is meant by "variant." mutations of this gene, when inherited from both parents, can cause an extremely rare condition termed "ataxia-telangiectasia-like disorder" where a specific part of the brain, the cerebellum, does not work properly and movements of the arms and legs are wobbly. Show your doctor http://omim.Org/entry/600814. ...Read moreSee 1 more doctor answer
What happens if a pedigree shows x linked recessive inheritance does it also show autosomal recessive inheritance?
No: X-linked recessive inheritance involves asymptomatic females passing a condition to their sons. An example is hemophilia A and B. Usually only males are affected. Autosomal recessive inheritance affects both sexes equally. Two asymptomatic parents can pass a condition to their children 25% of the time on average. ...Read more
Hi doctor , in ultra suond.U/s congenital anomaly detect or down syndrome detect during pregnancy ?
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
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