survival of anencephaly

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'...

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...

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...

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...

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...

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...

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...

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.

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...

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...

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...

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...

OBJECTIVE: To analyze infant mortality in children with selected types of birth defects during a first year of their life. DESIGN: A retrospective study with an analysis of prenatal and postnatal occurrence of birth defects in the Czech Republic during 1994 - 2006. SETTING: Department of Medical Genetics, Thomayer's University Hospital, Prague. Chair of Medical Genetics, Postgraduate Medical Institute, Prague. METHODS: Data were collected from national registers (Institute of Health Information and Statistics) and particular departments of medical genetics...

OBJECTIVES: In monoamniotic twin pregnancies discordant for fetal anomaly, parents may opt for selective feticide. However, the normal co-twin remains at risk of sudden demise from cord entanglement. We report on three cases of successful selective feticide by cord occlusion combined with cord transection. METHODS: We describe technical details and outcome of three monoamniotic twin pregnancies discordant for fetal anomaly (two cases of anencephaly and one case of congenital heart block) in which cord occlusion was followed by transection of the cord using contact laser...

Breech presentation occurs at term in approximately 3% to 4% of singleton gestations. This presentation is associated with a variety of maternal and fetal conditions including preterm labor, abnormal amniotic fluid volume, hydrocephaly, anencephaly, mullerian anomalies, abnormal placentation, and multifetal gestation. Cesarean delivery has been associated with increased risk of subsequent accreta, placenta previa, hemorrhage, and hysterectomy. The Term Breech Trial initially suggested that planned vaginal breech delivery is associated with increased neonatal morbidity and mortality compared with planned cesarean delivery...

This study studied the eyes of three anencephalic stillborns to evaluate whether brain degeneration affected eye development and/or survival. The study encompassed histology, scanning electronmicroscopy, and immunocytochemistry. The corneae were otherwise normal except for the presence of blood vessels in the stroma and the posterior surface of the cornea demonstrated wrinkles. Synaechia was present and the lens had occasional vacuolated cells. The retinae had normal layers in most regions except the center where fibroblasts infiltration was observed...

INTRODUCTION: Iniencephaly, a neural tube defect involving occiput and inion and combined with rachischisis of the cervical, thoracic spine, and retroflexion position of the head is a very rare congenital abnormality of the fetus-newborn with a 0.1-10 of 10,000 prevalence. This abnormality's prognosis is thought to be dismal. This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, absence of the mandible, cleft lip and palate, cardiovascular disorders, diaphragmatic hernia, renal abnormalities, overgrowth of the arms compared to the legs, and club food and gastrointestinal atresia...

BACKGROUND: The number of mouse mutants and strains with neural tube closure defects (NTDs) now exceeds 190, including 155 involving known genes, 33 with unidentified genes, and eight "multifactorial" strains. METHODS: The emerging patterns of mouse NTDs are considered in relation to the unknown genetics of the common human NTDs, anencephaly, and spina bifida aperta. RESULTS: Of the 150 mouse mutants that survive past midgestation, 20% have risk of either exencephaly and spina bifida aperta or both, parallel to the majority of human NTDs, whereas 70% have only exencephaly, 5% have only spina bifida, and 5% have craniorachischisis...

UNLABELLED: AIM AND TYPE OF STUDY: A retrospective data study with an analysis of pre- and postnatal occurrence of selected types of birth defects in the Czech Republic during 1994 to 2004 period. An analysis of infant mortality rate in children with selected types of birth defects during their first year of life is described. METHODOLOGY: Data on prenatal diagnostics were obtained from particular departments of medical genetics. Data on birth defects incidences were obtained from National Health registers - Institute of Health Information and Statistics (National Register of Congenital Anomalies and National Newborns Register) from the 1996-2004 period were used...

OBJECTIVE: To help develop an evidence-based approach to the best management of twin pregnancies discordant for anencephaly. METHODS: We retrospectively examined the management and outcome of 18 pregnancies discordant for anencephaly diagnosed at 11 + 0 to 13 + 6 weeks of gestation in our center. We combined these data with those from other publications. In total, there were 44 dichorionic pregnancies that were managed expectantly (n = 35) or by selective feticide (n = 9) and 19 monochorionic pregnancies that were managed expectantly...