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Doctor insights on: Birth Defects

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Dr. Nikolaos Zacharias
459 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. Nikolaos Zacharias
459 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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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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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?

Pre- and post birth: If the muscles paper shrunken and much mass is missing, the e shoulders are usually hunched forward, and many joints of the extremities may be frozen. Whatever process caused this ended long before delivery, and is static after birth muscle biopsies are not useful, showing only fibrous tissue replacement. Post deliver, there are many degenerative muscle disorders, mostly genetic, which progress. ...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?

Many undetectable: or missed. The accuracy is operator-specific, but even the most talented prenatal ultrasonologists, both Maternal-Fetal Medicine and Radiology specialists, will miss the diagnosis of Down in an affected pregnancy. You are entitled to have testing for Down by a maternal blood test for fetal DNA, 99.9% accurate, with results in 4 to 7 days. Your age-specific risk is 1/100. Get genetic counseling. ...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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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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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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Dr. Nikolaos Zacharias
826 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