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Doctor insights on: Birth Defects

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Dr. Nikolaos Zacharias
447 doctors shared insights

Birth Defects (Overview)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such as maternal alcohol consumption.


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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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Dr. Cornelia Franz
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Dr. Nikolaos Zacharias
447 doctors shared insights

Birth Defects (Overview)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such as maternal alcohol consumption.


2

2
How does diabetes cause birth defects?

How does diabetes cause birth defects?

Metabolism: Diabetes is not a simple disease. It wrecks energy metabollism and has an effect on all our cells. During pregnancy this can affect the fetus since mom feeds baby and the excess sugar has its effect in both mom and baby. That is why good control is essential. ...Read more

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Dr. Cornelia Franz
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A progressive weakness and shrinking of the muscles is a symptom of what birth defect?

A progressive weakness and shrinking of the muscles is a symptom of what birth defect?

Amyotonia Congenita: Slow detrioration of anterior motor neurons of the spinal cord may occur. Etiology of this condition is not well understood. The condition is progressive with eventual respiratory muscle compromise. ...Read more

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Can birth defects be diagnosed in utero?

Can birth defects be diagnosed in utero?

Some: Some problems, like cleft lip, can be see on ultrasound. Others like down's syndrome, can be detect with amniocentesis. No tests or set of tests can find all problems, however. ...Read more

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Does a diagnostic ultrasound look for all birth defects? Over 40 and having my first kiddo. Will a diagnostic ultrasound at 22 weeks show all major forms of birth defect, or are there some that can only be detected by amnio or some other test?

Does a diagnostic ultrasound look for all birth defects? Over 40 and having my first kiddo.  Will a diagnostic ultrasound at 22 weeks show all major forms of birth defect, or are there some that can only be detected by amnio or some other test?

Yes and yes: As you get older, have more risk factors, or if something looks odd on the first ultrasound, a higher level ultrasound can be done to look for more advanced and subtle issues. Some genetic conditions, though, can only be found by sampling genetic material. An ultrasound at 22 weeks may not show a significant amount of smaller congenital defects but if something looks amiss, they may do one later. ...Read more

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Whats the integrated test? Does it look for all birth defects?

Whats the integrated test? Does it look for all birth defects?

I'm not sure!: I am just not sure what the "integrated test" is. And this is not a criticism of you at all. The words in medicine and especially in genetics are crazy hard to understand properly. And sometimes their meanings change! i would be very pleased if you could find out a bit more about this test, including the lab that performs it, and ask once more. Btw, no test or procedure finds all birth defects. ...Read more

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Dr. Cornelia Franz
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9
Husband was told his base of spine and is closed shut but is suppose to be open what does this mean ? They said a birth defect and needs surgery ?

Husband was told his base of spine and is closed shut but is suppose to be open what does this mean ? They said a birth defect and needs surgery ?

Talk to MD: This is a difficult question to answer without all the facts. Try and get a better explanation, or get a second opinion. What symptoms does you husband have, is it bothering him at all? All these questions need to be discussed. ...Read more

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What is the drug they used to give to pregnant women to treat acne that caused birth defects?

What is the drug they used to give to pregnant women to treat acne that caused birth defects?

Isotretinoin: Accutane, amnesteem, claravil, & sotret are all category "x" drugs and cause fetal birth defects and/or loss. It needs to be stopped immediately and see your OB or physician asap for evaluation. Prescribers of these meds have to ensure effective birth control and get written acknowledgement from their patients of the known teratogenicity. ...Read more

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Dr. Nikolaos Zacharias
814 doctors shared insights

Congenital Abnormalities (Definition)

Congenital abnormalities, commonly known as "birth defects," are structural conditions that are present from birth. Common abnormalities include limb or facial malformations, but may ...Read more


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Dr. Cornelia Franz
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