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About 665 results

ALLMedicine™ Anencephaly Center

Research & Reviews  311 results

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip an...
https://doi.org/10.1111/cge.13804
Clinical Genetics REFERENCES; Deshwar AR, Martin N et. al.

Jul 5th, 2020 - Neural tube defects (NTD) are among the most common congenital anomalies, affecting about 1:1000 births. In most cases, the etiology of NTD is multifactorial and the genetic variants associated with them remain largely unknown. There is extensive ...

The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-...
https://doi.org/10.1007/s00404-020-05650-y
Archives of Gynecology and Obstetrics; Szkodziak P, Krzyżanowski J et. al.

Jun 14th, 2020 - Neural tube defects (NTDs) are a group of heterogeneous congenital anomalies of the central nervous system (CNS). Acrania is a non-NTD congenital disorder related to the CNS. It can transform into anencephaly through the acrania-exencephaly-anence...

Ultrasound Appearances of the Acrania-Anencephaly Sequence at 10 to 14 Weeks' Gestation.
https://doi.org/10.1002/jum.15267
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine References; Wertaschnigg D, Reddy M et. al.

Mar 9th, 2020 - The acrania-anencephaly sequence is a lethal condition with a high detection rate in experienced hands after 10 weeks' gestation. However, earlier in gestation, many cases remain undetected. Different phenotypic appearances have been described and...

Craniorachischisis with Exencephaly.
https://doi.org/10.1080/15513815.2020.1716282
Fetal and Pediatric Pathology; Guerrero J, Heller DS et. al.

Jan 26th, 2020 - Background: Neural tube defects can be as mild as spina bifida, to as severe as anencephaly, with only a fraction of these cases presenting as both craniorachischisis and exencephaly. Case report: The G3, P1011 mother was 25-years old, who at an e...

An Unusual First-Trimester Ultrasound Presentation of the Acrania-Anencephaly Sequence:...
https://doi.org/10.1002/jum.15161
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine References; Sepulveda W, De La Maza F et. al.

Nov 10th, 2019 - A previously unrecognized first-trimester presentation of the acrania-anencephaly sequence is described. Ultrasound features included a constriction ring around the external base of the developing skull and an enlarged globular head, resembling a ...

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Guidelines  2 results

Teratology Society position statement on surveillance and prevalence estimation of neural tu...
https://onlinelibrary.wiley.com/doi/full/10.1002/bdr2.1434
Kancherla, V.,et al

Dec 18th, 2018 - In this position statement, the Teratology Society acknowledges the value of accurate measurement of total prevalence of neural tube defects (NTDs) in the population to support prevention, and advocates for rigorous surveillance world‐wide. NTDs,.

Practice Bulletin No. 187: Neural Tube Defects.
https://doi.org/10.1097/AOG.0000000000002412
Obstetrics and Gynecology;

Nov 30th, 2017 - Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrom...

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Clinicaltrials.gov  333 results

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip an...
https://doi.org/10.1111/cge.13804
Clinical Genetics REFERENCES; Deshwar AR, Martin N et. al.

Jul 5th, 2020 - Neural tube defects (NTD) are among the most common congenital anomalies, affecting about 1:1000 births. In most cases, the etiology of NTD is multifactorial and the genetic variants associated with them remain largely unknown. There is extensive ...

The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-...
https://doi.org/10.1007/s00404-020-05650-y
Archives of Gynecology and Obstetrics; Szkodziak P, Krzyżanowski J et. al.

Jun 14th, 2020 - Neural tube defects (NTDs) are a group of heterogeneous congenital anomalies of the central nervous system (CNS). Acrania is a non-NTD congenital disorder related to the CNS. It can transform into anencephaly through the acrania-exencephaly-anence...

Ultrasound Appearances of the Acrania-Anencephaly Sequence at 10 to 14 Weeks' Gestation.
https://doi.org/10.1002/jum.15267
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine References; Wertaschnigg D, Reddy M et. al.

Mar 9th, 2020 - The acrania-anencephaly sequence is a lethal condition with a high detection rate in experienced hands after 10 weeks' gestation. However, earlier in gestation, many cases remain undetected. Different phenotypic appearances have been described and...

Craniorachischisis with Exencephaly.
https://doi.org/10.1080/15513815.2020.1716282
Fetal and Pediatric Pathology; Guerrero J, Heller DS et. al.

Jan 26th, 2020 - Background: Neural tube defects can be as mild as spina bifida, to as severe as anencephaly, with only a fraction of these cases presenting as both craniorachischisis and exencephaly. Case report: The G3, P1011 mother was 25-years old, who at an e...

An Unusual First-Trimester Ultrasound Presentation of the Acrania-Anencephaly Sequence:...
https://doi.org/10.1002/jum.15161
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine References; Sepulveda W, De La Maza F et. al.

Nov 10th, 2019 - A previously unrecognized first-trimester presentation of the acrania-anencephaly sequence is described. Ultrasound features included a constriction ring around the external base of the developing skull and an enlarged globular head, resembling a ...

see more →

News  17 results

U.S. folic acid supplementation effort may not be reaching Hispanic women
https://www.reuters.com/article/us-health-folic-acid-fortification/u-s-folic-acid-supplementation-effort-may-not-be-reaching-hispanic-women-idUSKCN1MQ2XA

Oct 16th, 2018 - (Reuters Health) - Corn masa flour and tortillas sold in U.S. grocery stores may not be fortified with folic acid, which means a government effort to help reduce birth defects among Hispanic babies may not be working as intended, a small study sug...

Scientists urge UK to fortify flour with folic acid to limit birth defects
https://www.reuters.com/article/us-health-folicacid/scientists-urge-uk-to-fortify-flour-with-folic-acid-to-limit-birth-defects-idUSKBN1FK05F

Jan 30th, 2018 - LONDON(Reuters) - Britain’s failure to legislate to make food producers fortify flour with folic acid to help prevent babies being born with birth defects is based on flawed analysis and should be reversed, scientists said on Wednesday. Urging the...

Birth Defects Tied to Low Carb Diets (ScienceDaily)
https://www.medpagetoday.com/obgyn/pregnancy/70753

Jan 25th, 2018 - During pregnancy, low- and no-carbohydrate diets may not be a good choice, ScienceDaily reported. Originally published in the Birth Defects Research journal, the study found low-carb diets throughout pregnancy were associated with a 30% higher ris...

Folic acid still important for all women of childbearing age
https://www.reuters.com/article/us-health-women-folicacid/folic-acid-still-important-for-all-women-of-childbearing-age-idUSKCN0Y121B

May 10th, 2016 - (Reuters Health) – - The United States Preventive Services Task Force still says that all women planning to have a child or capable of having one take 0.4 to 0.8 milligrams of folic acid in a supplement daily, according to a new statement from the...

Birth defect in some rural Washington state babies stumps scientists
https://www.reuters.com/article/us-usa-washington-babies-health/birth-defect-in-some-rural-washington-state-babies-stumps-scientists-idUSKBN0DU22V20140514

May 14th, 2014 - OLYMPIA Wash. (Reuters) - An alarming number of babies in a rural swath of central Washington state over the last four years have been born with a rare and fatal defect that leaves them without part of their brain and skull, and scientists are stu...

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Patient Education  2 results see all →