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Anencephaly

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Lower rates of neural tube defects in Israel following folic acid supplementation policy.

Annie Reiss, Matan J Cohen, Ehud Kaliner, Efrat Gabai Kapara, Amihood Singer, Itamar Grotto, Ronni Gamzu,

Neural tube defects (NTDs) are common and disabling congenital malformations that remain a public health challenge despite prevention efforts. In 2000, The Israeli Ministry of Health published recommendations on daily folic acid (FA) supplementation for women of reproductive age and established a national NTD registry. This study aims to evaluate ... Read more >>

Prev Med (Preventive medicine)
[2020, :106064]

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Ultrasound Appearances of the Acrania-Anencephaly Sequence at 10 to 14 Weeks' Gestation.

Dagmar Wertaschnigg, Maya Reddy, Jayshree Ramkrishna, Fabricio da Silva Costa, Waldo Sepulveda, Daniel L Rolnik, Simon Meagher,

OBJECTIVES: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 might help increase the detection rate in less experienced hands and also earlier in gestation. The purpose ... Read more >>

J Ultrasound Med (Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine)
[2020, :]

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Neonatal Organ and Tissue Donation for Research: Options Following Death by Natural Causes.

Martha Anderson, Stuart Youngner, Regina Dunne Smith, Raja R Nandyal, Jeffrey P Orlowski, B Jessie Hill, Sarah Gutin Barsman,

The donation of organs and tissues from neonates (birth to 28 days) for transplantation has been a relatively infrequent occurrence. Less common has been the use of neonatal organs and tissues for research. Specific ethical and legal questions beg for rational and transparent guidelines with which to evaluate referrals of potential ... Read more >>

Cell Tissue Bank (Cell and Tissue Banking)
[2020, :]

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Craniorachischisis with Exencephaly.

Jessenia Guerrero, Debra S Heller, Ada Baisre de Leon,

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 estimated fetal gestational age of 17 weeks had a fetal ... Read more >>

Fetal Pediatr Pathol (Fetal and pediatric pathology)
[2020, :1-4]

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Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997-2011.

Adia R Louden, Jonathan Suhl, Vijaya Kancherla, Kristin M Caspers Conway, Jennifer Makelarski, Meredith M Howley, Adrienne T Hoyt, Richard S Olney, Andrew F Olshan, Paul A Romitti, ,

BACKGROUND:Neural tube defects (NTD)s are common birth defects with a multifactorial etiology. Findings from human studies examining environmental (non-inherited) exposures tend to be inconclusive. In particular, although animal studies of alcohol exposure and NTDs support its teratogenic potential, human studies are equivocal. Using data from the National Birth Defects Prevention ... Read more >>

Birth Defects Res (Birth defects research)
[2020, 112(5):427-439]

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Presence of congenital anomalies in three dog litters.

Antonio Ortega-Pacheco, Mildred A Lezama-García, Rafael Colín-Flores, Matilde Jiménez-Coello, Carlos Acevedo-Arcique, Eduardo Gutiérrez-Blanco,

This report describes multiple congenital malformations found in three dog litters delivered by emergency caesarean section. In all of the litters, some puppies were born alive but were euthanized because of the seriousness of their malformations and low probability of survival. In two litters, gastroschisis was associated with amelia of ... Read more >>

Reprod. Domest. Anim. (Reproduction in domestic animals = Zuchthygiene)
[2020, :]

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Pro-abortion rights narratives in Brazil, 1976 to 2016.

Thais Medina Coeli Rochel de Camargo,

The article explores pro-abortion rights narratives in Brazil based on the narrative policy framework (NPF). I analyzed pro-abortion rights documents written by feminist activists from 1976 to 1988 and documents from feminist organizations, law proposals and policy documents regarding abortions produced between 1989 and 2016. I carried out a content ... Read more >>

Cad Saude Publica (Cadernos de saude publica)
[2020, 36Suppl 1(Suppl 1):e00189018]

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Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China.

Donghua Xie, Changbiao Liang, Yueyun Xiang, Aihua Wang, Lili Xiong, Fanjuan Kong, Haoxian Li, Zhiyu Liu, Hua Wang,

OBJECTIVE:To analyse the characteristics of the prenatal diagnosis (PD) of birth defects(BDs) and termination of pregnancy (TOP) for foetal anomalies and to suggest perinatal management. METHODS:Birth defects surveillance data were collected from 52 registered hospitals in Hunan between 2015 and 2018. The PD and TOP rates of BDs were calculated ... Read more >>

Prenat. Diagn. (Prenatal diagnosis)
[2020, :]

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Association between body mass index and folate insufficiency indicative of neural tube defects risk among nonpregnant women of childbearing age in the United States, NHANES, 2007-2010.

Meryna Manandhar, Hind Beydoun, Vijaya Kancherla,

BACKGROUND:Maternal folate status and obesity are known risk factors for neural tube defects (NTD) in the offspring. We examined the association between body mass index (BMI) categories and blood folate concentrations, specifically, red blood cell (RBC) folate concentrations indicative of NTD risk among nonpregnant women of child-bearing age (20-44 years) in ... Read more >>

Birth Defects Res (Birth defects research)
[2020, 112(6):490-502]

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Estimating racial health disparities among adverse birth outcomes as deviations from the population rates.

James A Thompson, Melissa A Suter,

BACKGROUND:Despite significant research, the reasons for racial health disparities among adverse birth outcomes (ABO) remain largely unknown. The bulk of research into racial health disparities among ABO in the United States has concentrated on the risk of race and ethnic groups relative to the specific sub-population of non-Hispanic white women ... Read more >>

BMC Pregnancy Childbirth (BMC pregnancy and childbirth)
[2020, 20(1):155]

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Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects.

Juan Yu, Lei Wang, Pei Pei, Xue Li, Jianxin Wu, Zhiyong Qiu, Juan Zhang, Ruifang Ao, Shan Wang, Ting Zhang, Jun Xie,

BACKGROUND:Neural tube defects (NTDs) are severe, common birth defects that result from failure of normal neural tube closure during early embryogenesis. Accumulating strong evidence indicates that genetic factors contribute to NTDs etiology, among them, HOX genes play a key role in neural tube closure. Although abnormal HOX gene expression can lead ... Read more >>

Epigenetics Chromatin (Epigenetics & Chromatin)
[2019, 12(1):76]

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Legal abortion in Brazil: systematic review of the scientific production, 2008-2018.

Sandra Costa Fonseca, Rosa Maria Soares Madeira Domingues, Maria do Carmo Leal, Estela M L Aquino, Greice M S Menezes,

Previous reviews on the subject of abortion in Brazil have estimated one million procedures per year but did not address legal abortion. This systematic review sought to update knowledge regarding legal abortion in terms of service and women's profile, student and doctor knowledge, situations of anencephaly and severe malformations. We ... Read more >>

Cad Saude Publica (Cadernos de saude publica)
[2020, 36Suppl 1(Suppl 1):e00189718]

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Changes in maternal age and prevalence of congenital anomalies during the enactment of China's universal two-child policy (2013-2017) in Zhejiang Province, China: An observational study.

Xiaohui Zhang, Lijin Chen, Xuemiao Wang, Xiaoyan Wang, Menghan Jia, Saili Ni, Wei He, Shankuan Zhu,

BACKGROUND:China implemented a partial two-child policy (2013) followed by a universal two-child policy (2015), replacing the former one-child policy mandated by the government. The changes affect many aspects of China's population as well as maternal and infant health, but their potential impact on birth defects (BDs) remains unknown. In this ... Read more >>

PLoS Med. (PLoS medicine)
[2020, 17(2):e1003047]

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Prevalence and patterns of birth defects among newborns in Southwestern Ethiopia: Retrospective study

Soressa Geneti, Girmai Gebru, Demisew Amenu, Lemessa Dube,

<title>Abstract</title> <p> Background : Intrauterine development can be considered as normal development as well as abnormal development. Abnormal development commonly called birth defects occur because of interference of normal development from genetic disorders, environmental factors and the combination of both genetic and environment factors during the critical period ... Read more >>

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Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases.

Linlin Wang, Aiguo Ren, Tian Tian, Nan Li, Xuanye Cao, Peng Zhang, Lei Jin, Zhiwen Li, Yan Shen, Bo Zhang, Richard H Finnell, Yunping Lei,

Background:Anencephaly is a lethal neural tube defect (NTD). Although variants in several genes have been implicated in the development of anencephaly, a more complete picture of variants in the genome, especially de novo variants (DNVs), remains unresolved. We aim to identify DNVs that play an important role in the development ... Read more >>

Front Neurosci (Frontiers in neuroscience)
[2019, 13:1285]

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Cannabis Consumption Patterns Explain the East-West Gradient in Canadian Neural Tube Defect Incidence: An Ecological Study.

Albert Stuart Reece, Gary Kenneth Hulse,

While a known link between prenatal cannabis exposure and anencephaly exists, the relationship of prenatal cannabis exposure with neural tube defects (NTDs) generally has not been defined. Published data from Canada Health and Statistics Canada were used to assess this relationship. Both cannabis use and NTDs were shown to follow ... Read more >>

Glob Pediatr Health (Global Pediatric Health)
[2019, 6:2333794X19894798]

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Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level.

Ruben Bronberg, Boris Groisman, Maria Paz Bidondo, Pablo Barbero, Rosa Liascovich,

The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public (PUB) versus private/social security (PRI), and geographical location, northern (N) versus southern (S). The source ... Read more >>

J Community Genet (Journal of community genetics)
[2020, :]

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Risk of Stillbirth for Fetuses With Specific Birth Defects.

Dominique Heinke, Eirini Nestoridi, Sonia Hernandez-Diaz, Paige L Williams, Janet W Rich-Edwards, Angela E Lin, Carla M Van Bennekom, Allen A Mitchell, Wendy N Nembhard, Ruth C Fretts, Drucilla J Roberts, C Wes Duke, Suzan L Carmichael, Mahsa M Yazdy, ,

OBJECTIVE:To estimate the risk of stillbirth (fetal death at 20 weeks of gestation or more) associated with specific birth defects. METHODS:We identified a population-based retrospective cohort of neonates and fetuses with selected major birth defects and without known or strongly suspected chromosomal or single-gene disorders from active birth defects surveillance ... Read more >>

Obstet Gynecol (Obstetrics and gynecology)
[2020, 135(1):133-140]

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An Unusual First-Trimester Ultrasound Presentation of the Acrania-Anencephaly Sequence: The "Turkish Turban" Sign.

Waldo Sepulveda, Francisco De La Maza, Simon Meagher,

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 Turkish turban, with large cystic spaces replacing the brain. This constellation of findings was noted in 3 first-trimester ... Read more >>

J Ultrasound Med (Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine)
[2020, 39(4):829-832]

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[Pre- and Postnatal Diagnosis of Congenital Central Nervous System Anomalies in Iceland in 1992-2016].

Asdis Bjork Gunnarsdottir, Sara Lilly Thorsteinsdottir, Hulda Hjartardottir, Hildur Hardardottir,

INTRODUCTION:The incidence of congenital anomalies of the central nervous system (CNS) in Iceland during 1992-2016 was examined along with timing of diagnosis, maternal residence, known risk factors and perinatal outcomes. MATERIAL AND METHODS:This was a retrospective study of all fe-tuses and newborns diagnosed with a CNS anomaly during the study ... Read more >>

Laeknabladid (Laeknabladid)
[2019, 105(12):547-553]

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A Successful Pregnancy with Amyotrophic Lateral Sclerosis.

P D M Pathiraja, S K Ranaraja,

Amyotrophic lateral sclerosis (ALS) is a degenerative motor neurone disease that is rarely seen in the obstetric population. We present a 32-year-old patient who presented in her fourth pregnancy with a background history of ALS. There was complete involvement of the upper and lower motor neurone system and bulbar system ... Read more >>

Case Rep Obstet Gynecol (Case reports in obstetrics and gynecology)
[2020, 2020:1247178]

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Postmarketing Surveillance of Pregnancy Outcomes With Dolutegravir Use.

Melissa Crawford, Jean van Wyk, Michael Aboud, Vani Vannappagari, Beth Romach, Lloyd Curtis, Brian Wynne, Annemiek de Ruiter, Kimberly Smith, Nassrin Payvandi,

J. Acquir. Immune Defic. Syndr. (Journal of acquired immune deficiency syndromes (1999))
[2020, 83(1):e2-e5]

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Prenatal detection of congenital anomalies and related factors in Argentina.

Maria Paz Bidondo, Boris Groisman, Santiago Duarte, Agostina Tardivo, Rosa Liascovich, Pablo Barbero,

Congenital anomalies (CAs) are a leading cause of neonatal death. Many CAs can be diagnosed prenatally. To estimate the prenatal detection rate (PDR) of CA in hospitals participating in the RENAC (National Network of Congenital Anomalies of Argentina) and to analyze the PDR according to different factors. Sources were reports ... Read more >>

J Community Genet (Journal of community genetics)
[2020, :]

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Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Glenn E Palomaki, Caleb Bupp, Anthony R Gregg, Mary E Norton, Devin Oglesbee, Robert G Best, ,

Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms) alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be used as a population-based ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(3):462-474]

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Classifying by cause and preventing the many causes of spina bifida and anencephaly.

Godfrey P Oakley,

Pediatr. Res. (Pediatric research)
[2020, 87(2):183-184]

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