Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil

Abstract

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. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%). CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed. RESULTADOS: Nossa amostra foi composta por 29 fetos. A suspeita do diagnóstico de anencefalia foi realizada em média com 21,3 semanas de gestação. Sete fetos apresentavam malformações que afetavam outros órgãos, e incluíram fendas orais (n = 4) e defeitos cardíacos congênitos (n = 2). Em 16 casos houve interrupção da gravidez (n = 12) ou morte intrauterina (n = 4). Daqueles que nasceram vivos (n = 13), todos morreram na primeira semana de vida. Após a avaliação pós-natal, o diagnóstico de anencefalia foi confirmado em 22 casos (75,9%). Outras condições incluíram o complexo disruptivo de banda amniótica (6,9%), microhidranencefalia (6,9%), merocrania (3,4%) e holoprosencefalia (3,4%). CONCLUSÕES: Diferentes condições que envolvem a calota craniana podem ser confundidas com a anencefalia, como verificado em nossa amostra. No entanto, estas também parecem ter um prognóstico pobre. A suplementação com ácido fólico parece não estar sendo realizada de forma adequada. RESUMO

Frederik Ruysch (1638–1731): Historical perspective and contemporary analysis of his teratological legacy

“…It is conceivable that the dramatic presentation of an acraniate and neckless fetus with bulging eyes gives the impression of a frog, especially to ignorant lay people. Anencephalic infants, most of which are born alive and die within a day [Pelizzari et al, 2015], have been reported to show bursts of forceful, jerky and sometimes excessive movements-especially those lacking a brain stem-that are quite unlike normal fetal motion patterns [Visser et al, 1985]. Again, in the eyes of ignorants these movements may impress as attempts to crawl or fly.…”

Fetal abnormality with possibility of legal termination: maternal dilemmas

“…However, it is without final opinion (PL 5,069/13) for religious reasons that defend the unborn child's right. This conduct is an important step in the feminist view and, if passed, will be a gain for women's right to their choices in society (17) . However, it must be observed that the public network offers the first ultrasound from 17 to 22 weeks of gestation, thus leaving the stipulated period for the procedure, in case any abnormality is found incompatible with life.…”

The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature

“…Even female infant gender is cited as a risk factor, as most of the anencephalic fetuses are females [16]. Anencephaly was also associated with chromosomal abnormalities, such as Edwards syndrome -trisomy 18 [14]. Also, studies show that many of the anencephalic fetuses present associated abnormalities, such as spina bifida, cleft palate, clubbed foot, clubbed hands and gastroschisis, suggesting the overwhelming presence of genetics in the neural tube defects [18].…”

“…Also, studies show that many of the anencephalic fetuses present associated abnormalities, such as spina bifida, cleft palate, clubbed foot, clubbed hands and gastroschisis, suggesting the overwhelming presence of genetics in the neural tube defects [18]. These aspects highlight the importance of genetic factors in the etiopathogenetics of neural tube defects [11,14,15]. Hence, this is the reason why over the last few years, more and more studies have assessed the involvement of genetic and additional nongenetic risk factors in the development of anencephaly [16].…”