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survival of anencephaly

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https://www.readbyqxmd.com/read/30066535/environmental-and-individual-exposure-and-the-risk-of-congenital-anomalies-a-review-of-recent-epidemiological-evidence
#1
REVIEW
Silvia Baldacci, Francesca Gorini, Michele Santoro, Anna Pierini, Fabrizio Minichilli, Fabrizio Bianchi
INTRODUCTION: Congenital anomalies (CAs) represent one of the main cause of foetal death, infant mortality and morbidity, and long-term disability. CAs have been object of systematic registration activity for a long-time in many geographical areas in Europe and worldwide. CAs are often associated with disabilities of different types and severity, including the developed Countries worldwide. According to the World Health Organization (WHO), each year approximately 3,2 million of children worldwide are born with a CA and approximately 300,000 newborns with a diagnosis of birth defect die within the first 28 days of life...
May 2018: Epidemiologia e Prevenzione
https://www.readbyqxmd.com/read/29189693/practice-bulletin-no-187-neural-tube-defects
#2
(no author information available yet)
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 syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29189691/practice-bulletin-no-187-summary-neural-tube-defects
#3
(no author information available yet)
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 syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4)...
December 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27857793/newborn-with-meroanencephaly-surviving-all-odds
#4
Iraj Alam Khan, Uzma Firdaus, Syed Manazir Ali, Imran Asghar
Neural tube defects are a group of congenital anomalies of brain development that carry a significant risk of morbidity and mortality. Anencephaly is a serious form of this defect with a very poor prognosis. It can present in three forms - meroanencephaly, holoanencephaly, and craniorachischisis. Meroanencephaly is considered to be the classic form of anencephaly. It manifests as a lack of cranial vault bones and exposed dorsal neural tissue resulting from defective neural tube closure in the very early period of gestation...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27799226/prolonged-unassisted-survival-in-an-infant-with-anencephaly
#5
Holly Dickman, Kyle Fletke, Roberta E Redfern
Anencephaly is one of the most lethal congenital defects. This case report is of an anencephalic infant who lived to 28 months of life and defies current literature. She is the longest surviving anencephalic infant who did not require life-sustaining interventions. This case presents the obstacles that arose from this infant's prolonged life and recommendations based on these findings.
October 31, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27234469/-congenital-anomalies-of-poor-prognosis-genetics-consensus-committee
#6
Rosa A Pardo Vargas, Mariana Aracena, Teresa Aravena, Carolina Cares, Fanny Cortés, Víctor Faundes, Cecilia Mellado, Cristóbal Passalacqua, Patricia Sanz, Silvia Castillo Taucher
INTRODUCTION: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. METHODOLOGY: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it...
September 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/26261765/prevention-of-neural-tube-defects-with-folic-acid-the-chinese-experience
#7
Ai-Guo Ren
Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system that are caused by the closure failure of the embryonic neural tube by the 28(th) day of conception. Anencephaly and spina bifida are the two major subtypes. Fetuses with anencephaly are often stillborn or electively aborted due to prenatal diagnosis, or they die shortly after birth. Most infants with spina bifida are live-born and, with proper surgical treatment, can survive into adulthood. However, these children often have life-long physical disabilities...
August 8, 2015: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/25789781/characteristics-of-fetuses-evaluated-due-to-suspected-anencephaly-a-population-based-cohort-study-in-southern-brazil
#8
Emanuele Pelizzari, Carolina Melendez Valdez, Jamile dos Santos Picetti, André Campos da Cunha, Cristine Dietrich, Paulo Renato Krahl Fell, Luciano Vieira Targa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa
CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS: The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013...
March 2015: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/25200733/ethical-language-and-decision-making-for-prenatally-diagnosed-lethal-malformations
#9
REVIEW
Dominic Wilkinson, Lachlan de Crespigny, Vicki Xafis
In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as 'lethal' or as 'incompatible with life'. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated 'lethal' reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of 'futility'...
October 2014: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/24975578/limb-body-wall-defect-experience-of-a-reference-service-of-fetal-medicine-from-southern-brazil
#10
Ana C Gazolla, André C da Cunha, Jorge A B Telles, Rosilene da S Betat, Mayara A Romano, Isabel Marshall, Amanda M Gobatto, Anna M de H Bicca, Camila P Arcolini, Thaís K V Dal Pai, Luciane R Vieira, Luciano V Targa, Ildo Betineli, Paulo R G Zen, Rafael F M Rosa
BACKGROUND: Limb-body wall defect is a rare condition characterized by a combination of large and complex defects of the ventral thorax and abdominal wall with craniofacial and limb anomalies. METHODS: The aim of this study was to describe the experience of our fetal medicine service, a reference from Southern Brazil, with prenatally diagnosed patients with a limb-body wall defect in a 3 years period. Only patients who fulfilled the criteria suggested by Hunter et al...
October 2014: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/24003992/a-five-year-review-of-referrals-for-perinatal-palliative-care
#11
Krishelle Leong Marc-Aurele, Rick Nelesen
BACKGROUND: San Diego Hospice and the Institute for Palliative Medicine created one of the earliest perinatal palliative care programs in the country. Only four studies have reported outcomes for pregnant women referred to perinatal palliative care services for potentially lethal prenatal diagnoses. OBJECTIVES: To learn: (1) who is referred for perinatal palliative care at San Diego Hospice; (2) what happens after referral to perinatal palliative care; and (3) what happens after delivery for this population...
October 2013: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/23787724/postnatal-outcome-of-congenital-anomalies-in-low-resource-setting
#12
Manisha Kumar, Sumedha Sharma, Manisha Bhagat, Usha Gupta, Rama Anand, Archana Puri, Anuradha Singh, Abha Singh
OBJECTIVE: This study aimed to determine the postnatal outcome of congenital malformations in a tertiary care hospital of India. MATERIAL AND METHODS: This was a prospective study of all women with prenatally detected major congenital malformations. Postnatal follow-up of live born babies was carried out for 1 year. RESULTS: There were 574 cases with major congenital anomalies, 523 of which were fully followed. Only 69 women (13.6%) had the initial scan before 20 weeks of gestation...
October 2013: Prenatal Diagnosis
https://www.readbyqxmd.com/read/23686967/renal-hepatic-pancreatic-dysplasia-a-sibship-with-skeletal-and-central-nervous-system-anomalies-and-nphp3-mutation
#13
Lawrence Copelovitch, Maureen M O'Brien, Marta Guttenberg, Edgar A Otto, Bernard S Kaplan
We report on five consecutive sibs three with fatal renal-hepatic-pancreatic dysplastic (RHPD) syndrome and two pregnancies ending in early abortion. Three of the fetuses reached term and two survived for 15 and 58 days. They had diffusely cystic kidneys with absence of the distal collecting tubules, hepatic fibrosis, bile duct paucity, and pancreatic fibrosis with irregularly dilated ducts. These findings correspond to many of those reported by Ivemark et al. [Ivemark et al. (1959); Acta Paediat Scand 48: 1-11] as part of the RHPD syndrome...
July 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/22462001/anencephaly-do-the-pregnancy-and-maternal-characteristics-impact-the-pregnancy-outcome
#14
Isabela Nelly Machado, Sílvia Dante Martinez, Ricardo Barini
Objective. To describe the characteristics of obstetric and perinatal outcome of a group of pregnancies complicated by an anencephalic fetus. Methods. Observational study including anencephalic fetuses, divided into groups according to the evolution of pregnancy: elective termination of pregnancy ETP; stillbirths (SBs); live births (LBs), and loss of follow-up. After a univariate description of the sample, some variables were compared using statistical tests. Results. 180 anencephalic fetuses were included...
2012: ISRN Obstetrics and Gynecology
https://www.readbyqxmd.com/read/22208315/intraventricular-twin-fetuses-in-fetu
#15
Lauren N Huddle, Christine Fuller, Tiffany Powell, Judith A Hiemenga, Jia Yan, Brian Deuell, Eric M Lyders, Joann N Bodurtha, Peter R Papenhausen, Colleen K Jackson-Cook, Arti Pandya, Margie Jaworski, Gary W Tye, Ann M Ritter
The authors report a rare case of multiple intracranial fetuses in fetu, fulfilling Willis' traditional criteria, which include an axial and appendicular skeleton with surrounding organized tissue. This case was ascertained from studies of a full-term female neonate who presented with ventriculomegaly. A CT scan showed intracranial calcifications that were suggestive of an axial skeleton. Her birth weight was 3.176 kg (50th-75th percentile), length was 52 cm (90th percentile), head circumference was 35 cm (50th-75th percentile), and Apgar scores were 7 and 8 at 1 and 5 minutes, respectively...
January 2012: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/21445817/postnatal-in-vivo-mri-findings-in-anencephaly
#16
A Poretti, A Meoded, E Ceritoglu, E Boltshauser, T A G M Huisman
We report on the MRI findings of an anencephalic infant who survived 10 weeks postnatally. MRI showed absence of the cranial vault, all supratentorial structures, and the cerebellum. A brainstem primordium without pontine prominence was present. The brainstem was surrounded by the area cerebrovasculosa. The absence of a pontine prominence in an anencephalic infant without cerebellar tissue supports the hypothesis that absent pontine prominence is found in children with a prenatal loss of cerebellar tissue.
December 2010: Neuropediatrics
https://www.readbyqxmd.com/read/20683907/a-retrospective-cohort-study-of-mortality-among-children-with-birth-defects-in-new-york-state-1983-2006
#17
Ying Wang, Jiaqi Hu, Charlotte M Druschel
BACKGROUND: Birth defects, which occur in about 3% of live births in the United States each year, have remained the leading cause of infant mortality, although the infant mortality rate in the United States has decreased significantly over the past decades. The objective of this study was to conduct a retrospective cohort study with long-term follow-up of the children in New York State Congenital Malformations Registry (CMR) for up to 24 years on their mortality status to evaluate the mortality risk of children with birth defects by age at death, birth defect category and other possible contributing factors...
December 2010: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/20231929/central-nervous-system-anomalies-diagnosed-antenatally-and-post-delivery-management
#18
Haifaa A Mansouri
OBJECTIVE: To find out the prevalence of the central nervous system anomalies (CNS) and the outcome after surgical correction of operable defects. METHODS: This is a retrospective review of all cases diagnosed antenatally with CNS anomalies in the Department of Obstetrics and Gynecology at King Abdulaziz University Hospital (KAUH), Jeddah, Kingdom of Saudi Arabia from January 1997 to March 2005, and their outcome including perinatal deaths and postoperative outcome following surgical correction carried out as treatment or palliative...
March 2010: Saudi Medical Journal
https://www.readbyqxmd.com/read/20198650/the-natural-history-of-anencephaly
#19
Nidaa Obeidi, Noirin Russell, John R Higgins, Keelin O'Donoghue
OBJECTIVE: Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited. We aimed to investigate the natural history of these pregnancies from diagnosis to delivery and to determine timing of death. METHOD: A retrospective review of cases of anencephaly diagnosed between 2003 and 2009 in tertiary-referral university teaching hospitals in Cork...
April 2010: Prenatal Diagnosis
https://www.readbyqxmd.com/read/19664702/the-cochlea-in-fetuses-with-neural-tube-defects
#20
Joachim Schmutzhard, Rudolf Glueckert, Mario Bitsche, Irene Abraham, Christina Falkeis, Ilona Schwentner, Herbert Riechelmann, Bert Müller, Felix Beckmann, Consolato Sergi, Annelies Schrott-Fischer
In this study different malformations of the cochlea could be demonstrated. Nevertheless, we could not delineate a distinct malformation of the inner ear, that can be linked to a neural tube defect. Neural tube defects are a frequent and heterogeneous group of malformations, ranging from the survivable spina bifida to fatal anencephaly. In multiple animal models an involvement of the vestibulocochlear system has been demonstrated. In this article human fetal temporal bones of neural tube defects were analysed in a multimodular work-up...
November 2009: International Journal of Developmental Neuroscience
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