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Doctor insights on: Handling Anencephaly Condition

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Hello docs, is anencephaly a genetic disease?

Hello docs, is anencephaly a genetic disease?

Genetic influence: Anencephaly is one of the many forms of neural tube defects that can occur. The factors are likely present on several chromosomes, making it a polygenic rather than single gene in origin. Recurrence risk of any form of ntd to a previously affected couple is a few percent. ...Read more

Dr. Richard Roberts
58 doctors shared insights

Anencephaly (Definition)

Anencephaly is a severe problem where the head of a fetus fails to develop normally. Usually, most of ...Read more


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Is anencephaly a genetic disease or is it preventable?

Is anencephaly a genetic disease or is it preventable?

Sporadic malformatn: The fetal nervous system first forms as a groove that folds in on itself and begins to close from the middle outward to the top & bottom.If the bottom doesn't close, spina bifida develops. If the top doesn't, anencephaly occurs. Recurrence risk to any affected mom ~1-2% makes this non-genetic. There is some evidence that taking Folic Acid before pregnancy & up to 3m can help prevent it. ...Read more

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Does anyone know if anencephaly is a genetic disease?

Does anyone know if anencephaly is a genetic disease?

Not genetic: We don't know why anencephaly happens, but it is not genetic. It may be in part due to a mother not having enough Folic Acid in her diet. ...Read more

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What is the main cause of anencephaly?

3 weeks after con-: ception, an embryo's neural plate develops a midline groove; its edges over-fold & close to form a neural tube. Anencephaly is the most severe of the Neural Tube Defects caused by interaction of one of several genes with environmental factors. Low maternal folate (folic acid) level at conception is a main cause; MTHFR, a main gene iinvolved. Fertile women who take daily Folic Acid have lower risk of NTD's. ...Read more

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What are the tests that indicate anencephaly?

What are the tests that indicate anencephaly?

Anencephaly: Anencephaly is a serious birth defect where the brain does not form and the top of the skull is open. It is an extreme form of a neural tube defect. Tests which can indicate anencephaly are an ultrasound examination. A blood test called msafp can be drawn at 15 weeks also. ...Read more

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What is iniencephaly vs anencephaly?

What is iniencephaly vs anencephaly?

Same.: Iniencephaly is as lethal as anencephaly and associated with an extreme retroflexion of the fetal head towards the back. ...Read more

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What do doctors say when they tell a family the baby has anencephaly>?

What do doctors say when they tell a family the baby has anencephaly>?

Hopefully,the truth: The difficulty of transmitting this info to the parents is much less than the sadness & loss the parents will feel when they get the info. Pregnancy is one of life's gambles & up to 4% have an unexpected event after delivery.Accurate information on how/why/recurrence risks are all part of the problem management. Either the OB or a geneticist /counselor should fill in the blanks. ...Read more

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What are the chances of someone with type 1 having a baby with anencephaly?

What are the chances of someone with type 1 having a baby with anencephaly?

Increased anomalies: Women with diabetes that is poorly controlled in the weeks prior to and the first weeks of pregnancy have a higher chance of having a fetus with abnormalities of the heart and other parts of the body. It is important that they see a doctor and improve glycemic control before even trying to conceive. Screening and ultrasound studies can detect many of these abnormalities, but prevention is key. ...Read more

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What is anencephaly?

Anencephaly: Anencephaly is one of a group of malformations of the central nervous system collectively called neural tube defects. Anencephaly is readily apparent at birth because of the absence of the skull and scalp and with exposure of the underlying brain. ...Read more

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What can I do to treat anencephaly?

What can I do to treat anencephaly?

Comfort care only!: Nobody can nor should help prolong the "lives" of these poor neonates. Anencephalic newborns are devoid of any chance of meaningful interaction with the environment and never attain consciousness. Comfort care is all that is ethically permissible for these dramatic cases. Take 4-5 mg daily of Folic Acid daily throughout your reproductive life, to prevent this from recurring in future pregnancies. ...Read more