ABSTRACT
Importance: Zika virus infection can be prenatally passed from a pregnant woman to her fetus. There is sufficient evidence to conclude that intrauterine Zika virus infection is a cause of microcephaly and serious brain anomalies, but the full spectrum of anomalies has not been delineated. To inform pediatric clinicians who may be called on to evaluate and treat affected infants and children, we review the most recent evidence to better characterize congenital Zika syndrome. Observations: We reviewed published reports of congenital anomalies occurring in fetuses or infants with presumed or laboratory-confirmed intrauterine Zika virus infection. We conducted a comprehensive search of the English literature using Medline and EMBASE for Zika from inception through September 30, 2016. Congenital anomalies were considered in the context of the presumed pathogenetic mechanism related to the neurotropic properties of the virus. We conclude that congenital Zika syndrome is a recognizable pattern of structural anomalies and functional disabilities secondary to central and, perhaps, peripheral nervous system damage. Although many of the components of this syndrome, such as cognitive, sensory, and motor disabilities, are shared by other congenital infections, there are 5 features that are rarely seen with other congenital infections or are unique to congenital Zika virus infection: (1) severe microcephaly with partially collapsed skull; (2) thin cerebral cortices with subcortical calcifications; (3) macular scarring and focal pigmentary retinal mottling; (4) congenital contractures; and (5) marked early hypertonia and symptoms of extrapyramidal involvement. Conclusions and Relevance: Although the full spectrum of adverse reproductive outcomes caused by Zika virus infection is not yet determined, a distinctive phenotype-the congenital Zika syndrome-has emerged. Recognition of this phenotype by clinicians for infants and children can help ensure appropriate etiologic evaluation and comprehensive clinical investigation to define the range of anomalies in an affected infant as well as determine essential follow-up and ongoing care.
Subject(s)
Nervous System Malformations/virology , Pregnancy Complications, Infectious/virology , Zika Virus Infection/complications , Zika Virus , Diagnosis, Differential , Female , Humans , Infant , Nervous System Malformations/diagnosis , Pregnancy , Pregnancy Complications, Infectious/diagnosisABSTRACT
O rastreamento fetal de aneuploidia apresentou uma evolução fantástica a partir da avaliação individual da idade materna até os dias atuais, na qual evidências sugerem que o teste de avaliação do DNA fetal livre no sangue materno detecta mais de 99% dos casos de trissomia do cromossomo 21 e, aproximadamente, 98% dos casos de trissomia do 18 e 92%, do 13, com taxas de falso-positivo de 0,1; 0,1 e 0,3%, respectivamente. Recentemente, o grupo de trabalho em boas práticas médicas da Federação Internacional de Ginecologia e Obstetrícia recomendou que todas as gestantes, independentemente da idade, deveriam realizar uma avaliação de risco para aneuploidias por meio da translucência nucal, do teste combinado ou do teste de DNA fetal livre no sangue materno. O teste invasivo para diagnóstico de aneuploidia não deveria ser realizado considerando apenas a idade materna como fator de risco. O objetivo desta revisão foi apresentar esta nova ferramenta de rastreio, presente em muitos centros, e descrever as estratégias para implementação de tal tecnologia na prática clínica diária.(AU)
Screening for fetal aneuploidy has a tremendous evolution from maternal age to now where recent evidence suggests that cell-free DNA testing in maternal blood can detect more than 99% of cases of trisomy 21, about 98% of trisomy 18, and 92% of trisomy 13, with respective false-positive rates of 0.1, 0.1, and 0.3%. Recently, the working group on the best practice on maternal fetal medicine of the International Federation of Gynecology and Obstetrics has recommended as a good medical practice that pregnant women, regardless of maternal age, be offered prenatal assessment for aneuploidy through nuchal translucency, combined test, or cell-free DNA testing. The invasive procedure for diagnosis of aneuploidy should be avoided taking into account only the maternal age as a risk factor nowadays. The purpose of this review was to present this new screening tool available in most centers and to describe the strategies for implementation of this technology on the daily clinical practice.(AU)
Subject(s)
Humans , Female , Pregnancy , Pregnancy Trimester, First , Maternal Serum Screening Tests/methods , Cell-Free Nucleic Acids/chemistry , Aneuploidy , Prenatal Care/methods , Risk FactorsABSTRACT
A prevenção da prematuridade é um dos maiores desafio obstétricos deste século, e as medidas preventivas do parto prematuro se baseiam em três níveis de ação: a prevenção primária (identificação e tratamento dos fatores de risco), secundária (diagnóstico precoce do trabalho de parto prematuro) e terciária (intervenções para minimizar as principais complicações do nascimento prematuro). A maioria dos esforços está concentrada na prevenção terciária (utilização de tocólise e corticoide). Tais medidas reduzem a mortalidade e morbidade perinatal, mas a incidência do nascimento prematuro permanece alta. Avanços na prevenção primária e secundária, seguidos de novas estratégias, são necessários para diminuir a incidência do parto prematuro e para prevenir as doenças associadas à prematuridade. O objetivo desta revisão é descrever os métodos de predição do parto prematuro mais utilizados e as principais medidas preventivas do nascimento prematuro.
The prevention of preterm birth is the most important challenge at present time. The interventions to reduce the morbidity and mortality of preterm birth can be primary (identification and treatment of risk factors), secondary (early diagnosis of preterm labor), or tertiary (intended to improve outcomes for preterm infants). Most efforts so far have been tertiary interventions, such as treatment with tocolytic agents and antenatal corticosteroids. These measures have reduced perinatal morbidity and mortality, but the incidence of preterm birth remains high. Advances in primary and secondary care, following new strategies, are needed to prevent prematurity-related illness in infants and children. The purpose of this review is to describe the useful methods of prediction of preterm delivery and the most important measures to prevent the preterm birth.
