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Doctor insights on: Birth Defects Genetic Testing

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Can genetic testing prevent birth defects in pregnancy?

Can genetic testing prevent birth defects in pregnancy?

Nope.: Genetic prenatal testing can detect many chromosomal or microscopic dna defects - but it cannot prevent birth defects! 2-4% of all newborns will have a minor or major birth defect and the vast majority of those have unknown genetic underpinnings at this time, although many of us are working to change that. Take Folic Acid 1-5 mg daily to prevent 75-95% of major neural/cardiac fetal anomalies! ...Read more

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Dr. Scott McLean
1,243 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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Is clinodactyly a genetic disorder, birth defect?

Is clinodactyly a genetic disorder, birth defect?

Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself! ...Read more

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What genetic birth defects are associated when two first cousins have a baby?

What genetic birth defects are associated when two first cousins have a baby?

Autosomal recessive: There is increased risk of autosomal recessive type genetic disorders when close family members have a baby together. There are many of them but some examples include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. ...Read more

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Sickle cell anemia:is this birth defect only due to genetics?

Yes: It is a defect present from birth, yes. Would i call it a birth defect, no. It is a genetically derived abnormality in the metabolism of hemoglobin that results in sickling of the red cells under some circumstances. As a metabolic disease, it is inherited in a similar fashion to pku or cystic fibrosis. The term birth defect is more appropriate for a kid with malformation of an organ or body part. ...Read more

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Can genetic testing for sickle cell disease be done before birth of baby?

Can genetic testing for sickle cell disease be done before birth of baby?

Genetic test Sickle: Yes the test is done on high risk women at the 17 week of gestation by doing amniocentesis with the permission of both patents. ...Read more

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Could you tell me what are some advantages of finding cystic fibroses through genetic testing before birth?

Could you tell me what are some advantages of finding cystic fibroses through genetic testing before birth?

Preparation: You can educate yourself on what to expect. You can take your time finding the specialists the child will need (pulmonology, gi, nutrition, to start.) you can get involved with local support groups. ...Read more

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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

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

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How common is it for insurance to pay for genetic testing if I want to get it done for a hereditary birth disease?

How common is it for insurance to pay for genetic testing if I want to get it done for a hereditary birth disease?

Check the fine print: It depends on the insurance carrier. Some conditions are common enough that they are covered. An example is maternal screening for down's syndrome (trisomy 21). ...Read more

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Can allergy shots cause birth defects ?my wife and I plan to have try for a kid she concerned about it.its me that may need them .about to get testing

Can allergy shots cause birth defects ?my wife and I plan to have try for a kid she concerned about it.its me that may need them .about to get testing

No evidence: Since the allergens used in the extracts are "natural" , they are not known to cause birth defect. Allergy shots should not be started when a woman is pregnant- not because of birth defect but because of the potential for an anaphylactic reaction. There is no restriction for the father. ...Read more

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Please help we don't understand why our baby has a birth defect?

Please help we don't understand why our baby has a birth defect?

2-4$ of all babies.: 2-4% of all babies are born with a major or minor birth defect. This is not your fault, however recurrence can be prevented with certain cardiac and neural tube defects (among the more common and serious) by taking 1-5 mg of Folic Acid daily for the rest of your reproductive life (i.e. Until menopause/hysterectomy/bilateral tubal ligation). ...Read more

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Does gdm cause cause birth defect?

Does gdm cause cause birth defect?

Yes: Cardiomegaly due to septal hypertrophy and small left colon syndrome are the examples. ...Read more

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Can pesticides cause birth defect?

Can pesticides cause birth defect?

Birth defects: Yes, especially the organophosphate pesticides can cause birth defects ...Read more

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Is spinal herniation a birth defect?

Possible: Spinal herniation can be a type called spina bifida occulta. This is a congenital (birth defect) defect that goes undeteced your entire life. It can also be more. Sometimes this is found during other testing. Severe forms of spina bifida can be detected before birth. It has successfully been operated before a baby is born. ...Read more

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Is it a birth defect to have small chin?

Is it a birth defect to have small chin?

Depends: A significant small chin that impedes breathing and normal suck/swallow mechanism is called micrognathia and is part of an array of birth disorders. ...Read more

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Which medication can cause birth defects?

Which medication can cause birth defects?

List is too long: That list is way too long. Unless a drug is listed by the fda as category a or b there is at least a theoretical risk. The risk is higher for a d drug and absolute danger if rated x. ...Read more

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What can I do to miscarry a birth defect?

What can I do to miscarry a birth defect?

See your obstetricia: If you plan to abort the child because of the birthdefects it carries confirmed by sonogram, talk to your obsterician to plan for termination of pregnancy though after a particular weeks of pregnancy it is not safe to do. If you plan for the termination, seek help early. ...Read more

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Would your 5 month scan show birth defects?

Would your 5 month scan show birth defects?

Depends: By 5 months the baby has all it's main parts and a scan may be able to pick up on defects.However, the type of scan, type of probe and the skill of the technician and person reading the study all factor into how many issues can be detected. ...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


Dr. Nikolaos Zacharias
834 doctors shared insights

Congenital Abnormalities (Definition)

Abnormalites that are present at birth. Also known as birth defects. For example- cleft palate is a congenital abnormalities. Another example congenital heart disease is the presence of a ...Read more