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Doctor insights on: What Are The Tests That Indicate Anencephaly

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Dr. Marilynn Frederiksen Dr. Frederiksen
Obstetrics & Gynecology - Maternal Fetal Medicine
43 years in practice
Boston University School of Medicine
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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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Dr. Richard Roberts
60 doctors shared insights

Anencephaly (Definition)

A baby born with an underdeveloped brain ...Read more


Dr. Nikolaos Zacharias Dr. Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine
22 years in practice
National University of Athens Faculty of Medicine
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What are the tests for anencephaly?

What are the tests for anencephaly?

Ultrasound.: Only expert prenatal ultrasound can reliably detect anencephaly after the first trimester of pregnancy. Amniotic fluid Alpha fetoprotein and acetylcholinesterase can also help reach the diagnosis. ...Read more

Dr. Richard Roberts Dr. Roberts
Clinical Genetics
42 years in practice
Southern Illinois University School of Medicine
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Suffered anencephaly.planning to conceive in 3 months.is folic acid 5 mg once a day is fine or twice a day?any tests to take before getting pregnant

Suffered anencephaly.planning to conceive in 3 months.is folic acid 5 mg once a day is fine or twice a day?any tests to take before getting pregnant

Yes that is fine: 4 to 5 mg of folic acid likely reduces your recurrence risk to that of the general population risk. You must be take it daily as folic acid is illuminated from the system in a day, being a water soluble vitamin. The dose of folic acid in a prenatal vitamin is 0.6 mg. Just be sure you're taking it every day when you possibly might become pregnant.. ...Read more

Dr. Donna Wilkins Dr. Wilkins
Pediatrics - Neonatology
42 years in practice
Indiana University School of Medicine
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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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Dr. Nikolaos Zacharias Dr. Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine
22 years in practice
National University of Athens Faculty of Medicine
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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

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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What sort of problem is anencephaly?

What sort of problem is anencephaly?

Failure of closure: The fetus is busy around 20-30 days in when the nervous system starts forming along a line like a trench. The trench folds in on itself and begins to form a tube, sealing itself in the middle first and moving toward both ends like two zippers. When the top end fails to close, many brain structures don't form & we have anencephaly.At the bottom, we get spina bifida. ...Read more

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Dr. Nikolaos Zacharias Dr. Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine
22 years in practice
National University of Athens Faculty of Medicine
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What are the symptoms of anencephaly?

What are the symptoms of anencephaly?

None.: The mother usually has no symptoms when she is carrying an anencephalic infant, however this is a lethal fetal anomaly. Its recurrence in future pregnancies can be prevented with daily use of Folic Acid at 4-5 mg. ...Read more

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Dr. Johanna Fricke Dr. Fricke
Pediatrics - Developmental & Behavioral
46 years in practice
University of Alabama School of Medicine
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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

Dr. Valerie Hines Dr. Hines
Pediatrics
13 years in practice
University of Buenos Aires Faculty of Medicine
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What is the definition or description of: Anencephaly?

No brain: It is a serious birth defect in which a baby is born without parts of the brain and skull. Anencephaly can often be diagnosed before birth through an ultrasound examination. There is no cure or standard treatment for anencephaly and the prognosis for patients is death. ...Read more

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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I'm 15 weeks and they told me that my baby have anencephaly. I don't know what to do?

I'm 15 weeks and they told me that my baby have anencephaly.  I don't know what to do?

Sorry for your loss: I've been through about half a dozen of these but never in your shoes. Another 30+ weeks of pregnancy carrying this burden may or may not be something you can bear when the outcome is so predictable & bad. Consult your spouse, spiritual adviser, & pray. Do what fits for your needs & grieve for what might have been. See & hold baby whatever you do to say good bye. Followup with a geneticist later. ...Read more

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Dr. Nikolaos Zacharias Dr. Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine
22 years in practice
National University of Athens Faculty of Medicine
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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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Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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

Dr. Pam Yoder Dr. Yoder
Obstetrics & Gynecology - Maternal Fetal Medicine
years in practice
University of Illinois College of Medicine
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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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Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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What is the treatment for anencephaly?

Up to parents: This is always fatal within hours or days.The management choices depend on the parents.Some accept early termination after confirmation.Some choose to deliver and spend time with the baby, avoiding attempts to prolong the act of dying.If they choose to deliver,I encourage the parents to see and hold the baby, and have a chance to say goodbye. This has been shown to speed emotional recovery ...Read more

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Dr. Cornelia Franz Dr. Franz
Pediatrics
years in practice
Wake Forest University School of Medicine
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Could hair perms cause anencephaly in unborn babies?

Dont know: I do not know. I have not heard that. I would suggest though that hair perms contain chemicals that can leach in to the body through the scalp and are in general not beneficial especially if pregnant or trying to get pregnant. Avoid them. Anencephaly has multiple causes and at best chemicals may contribute...Have seen no evidence yet they are causal. ...Read more

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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. Mandakini Patel Dr. Patel
Pediatrics
37 years in practice
M. S. University of Baroda Medical College
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Could measles in pregnancy cause anencephaly?

Could measles in pregnancy cause anencephaly?

Measles in pregnancy: If a pregnant woman has measles it depends on the trimester what effects it will have on the fetus. It can cause brain anomalies as well. You OB should be the one counselling you on this, and the ultra sound of the fetus tells a lot about such problems. Talk to your ob. ...Read more

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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Is there a link between anencephaly and genetics? Are they hereditary?

Loose link : All of the neural tube defects from anencephaly down down the back to spina bifida are all loosely linked through numerous genes.Recurrence risk after a first affected child is minimal, quoted as 1.9%, but would encompass any of the related defects.Most are considered single chance events, and pre-pregnancy supplement of Folic Acid has reduced the frequency. ...Read more

Dr. William Singer Dr. Singer
Pediatrics - Neurology
47 years in practice
State University of New York Upstate Medical University
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Hi i had my first child with anencephaly. What preventive measures need to be taken for the next baby?

Folic acid: To prevent anencephaly and spina bifida it has been recommended that women start taking folic acid before considering undertaking a pregnancy. speak to your OBGYN about this. ...Read more

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