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Doctor insights on: Malformation Genetic Testing Other

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Are congenital abnormalities genetic?

Are  congenital abnormalities genetic?

Sometimes.: Although it's true that most congenital anomalies (duodenal atresia, ventricular septal defect) have some (currently known or unknown) genetic underpinning, some clearly do not (amniotic band deformation sequence, hydranencephaly, gastroschisis, porencephaly) and some are due to teratogenic exposures unrelated to genetic information (valproic acid, paroxetine, coumadin, (warfarin) enalapril, alcohol). ...Read more

Dr. Scott McLean
1,249 doctors shared insights

Genetic Testing (Definition)

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


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Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Yes: An embryo could be tested for the marfan mutation and only implanted if it did not contain that mutation. The same is true for a large number of other autosomal dominant or recessive diseases. ...Read more

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What are some genetic neurological diseases?

What are some genetic neurological diseases?

All sorts, varies: This is a particularly broad question. There are diseases with a genetic predisposition, such as multiple sclerosis. There are diseases where some people have a genetic form and some have a sporadic form, i.e. Parkinson disease. Then there are diseases where if you have the gene, you will get the disease--huntington disease. There are varied inheritances for the different muscular dystrophies. ...Read more

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Are developmental, familial and congenital anomalies different?

Are developmental, familial and congenital anomalies different?

Not really: Developmental = failure to meet developmental milestones such as sitting up, walking etc. This may be aquired from e.g. Birth injury. Familial means that it is a trait within a family, presumably genetic. Congenital is "accidental" with no known cause. ...Read more

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What causes genetic abnormalities in fetus?

What causes genetic abnormalities in fetus?

A few things: Often genetic abnormalities arise spontaneously. Some are due to genetic problems that are passed down in family lines. Some are due to the way the chromosomes from sperm and egg meet and form in an embryo. Lastly, some can be due to exposure radiation which can damage genes. If you're worried that your fetus might have abnormality, you can discuss with geneticist to understand risks. ...Read more

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Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Perhaps: It is a genetic disorder with the parents acting as carriers. Atcp.Org might be a good starting place to investigate genetic counseling prior to conception and try to evaluate your risk. ...Read more

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Do ovum donors undergo genetic testing or pedigree evaluation?

Do ovum donors undergo genetic testing or pedigree evaluation?

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 more

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Autosomal dominant polycystic kidney disease testing involves what kinds of tests?

Autosomal dominant polycystic kidney disease testing involves what kinds of tests?

See below: The current diagnostic criteria to detect cyst in the kidney is by ultrasound, however this is not a 100% accurate way as very small cysts can be missed. Ct scan can detect cysts which are smaller like 1 mm.There are no diagnostic criteria dveloped for ct scan yet. In case a young kidney donor wants to donote, but make sure he/she doesnot have the disease, there are genetic tests available. ...Read more

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Can Parkinson's disease have genetic testing?

Can Parkinson's disease have genetic testing?

Clinical diagnosis: Parkinson disease may have genetic basis, but the diagnosis is usually made based on signs and symptoms. See this site for genetic basis of the disease. http://www.ncbi.nlm.nih.gov/pubmed/15503301. ...Read more

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Can embryo screening identify hereditary heart disease?

Can embryo screening identify hereditary heart disease?

Sometimes: Hereditary heart diseases caused by a single gene may screened for an identified using ivf with pgd. Those without a known single gene cannot. ...Read more

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Are genetic diseases hereditary and present at birth?

Yes: Genetic diseases by definition are carried in the dna of the patient. This can be evident early, like total albinism, or not be evident until very late in life like huntington disease. They may be inherited from their parents or emerge as a new mutation. New mutations, if not lethal, can be passed to future generations. ...Read more

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Are there many inherited conditions can be avoided through genetic screening?

Are there many inherited conditions can be avoided through genetic screening?

Yes: Theoretically both partners could have their genomes tested for mutations known to cause genetic diseases. All of us have many mutant genes and as long as both parties do not have defects in the same genes, they could avoid autosomal recessive disorders. If dominant or sex linked defects are discovered, it would make genetic counseling and disease avoidance more difficult. ...Read more

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Are any genetic conditions treatable in utero?

Not directly: Currently there are no genetic discorders that can be treated in utero. There are consequences of certain disorders that can be treated however. The primary reason for knowing the genetic makeup of a baby in utero is for decision making and palnning outcomes. ...Read more

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What are the differences between genetic screening and genetic counseling?

What are the differences between genetic screening and genetic counseling?

Screening is done by: blood tests when family history, ethnicity or consanguinity confers risk of fetal inheritance of a mutant gene from both parents, thus, of having a disease. Screening for genetic accidents that cause chromosome anomalies is offered to all pregnant women. Folks with inherited disorders are counseled about risk of transmission. The disorder is explained to them & to women with + prenatal screens. ...Read more

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What other brain disorders can the msafp screening identify?

What other brain disorders can the msafp screening identify?

MSAFP: The msafp is a screen for an open neural tube abnormality in the fetus. It identifies spina bifida, which can also cause hydrocephalus. It also is a screen for down syndrome and trisomy 18, both of which affect the brain. ...Read more

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What are best labs for fetal or parental genetic testing?

What labs genetic te: All reputable national labs like quest, labcorp or lacal labs qualified to do th e tests can do it in us. ...Read more

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Are there any genetic links between hirschsprung's disease and other bowel disorders?

Perhaps: Hirshsprung's disease may itself be genetic. It can also be associatedwith other genetic conditions;e.g., it occurs more commonly in down syndrome individuals. Ther may also be a positive family history of other bowel disorders. Best to see a geneticist and give a detailed family history. ...Read more

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What genetic syndromes associated with congenital hydronephrosis ?

What genetic syndromes associated with congenital hydronephrosis ?

Genetics : There are many causes of hydronephrosis. Often hydronephrosis is found on prenatal ultrasounds but is not seen on postnatal ultrasounds. Any kidney or bladder malformation can cause hydronephrosis. In infants, posterior urethral valves, kidney stones, cystic kidneys, abdminal masses or any stenosis of the urethra or ureters may cause hydronephrosis. ...Read more

Genetic (Definition)

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