Contemporary Evaluation of the Neonate with Congenital Anomalies

Abstract

The evaluation of the neonate with congenital anomalies has always been a vital and challenging task. In recent years, many advances and challenges have complicated the process, including noninvasive prenatal screening, Zika virus, assisted reproductive technology, and rapid exome sequencing. This review will provide a context for the general evaluation of a neonate with congenital anomalies, including adaptation of the most precise terminology, definition of major and minor anomalies, and the determination of whether the anomalies are the result of a sequence, deformation, disruption, or malformation. Practical tools, including a concise family history, nutritional implication, pregnancy history, and the effects of assisted reproductive technologies are also presented. With the advent of Zika virus–associated congenital anomalies, emphasis has also been placed on travel and infection exposures. A particular challenge has been the incorporation of both pre- and postnatal genetic screening and testing into a diagnostic framework. The most common tests will be reviewed, including the practical applications of both a positive and negative result in varying contexts. It has become clear that noninvasive prenatal screening and rapid exome sequencing are having an increasing impact on the evaluation of children with congenital anomalies, and their application and evaluation of their results will be reviewed in detail. The overarching goal of this review is to provide neonatal clinicians the tools to assess, contextualize, and discuss congenital anomalies in neonates to improve communication and the diagnostic process.

Neonatal Care Provider Tasks for Hospitalized Well Newborns

“…The main purpose of the initial newborn examination has been recognized as a method for screening of congenital anomalies 15. The incidence of minor anomalies found in newborns is 15% to 20%, and the incidence of major anomalies increases if a number of minor anomalies are found 15. Although many serious abnormalities can be observed at the time of delivery, which may necessitate referral to care providers in the NICU, some problems such as a ductal-dependent cardiac lesion, tracheal-esophageal fistula, or metabolic disorders may be diagnosed later during well newborn care by thorough care providers.…”

“…15 The incidence of minor anomalies found in newborns is 15% to 20%, and the incidence of major anomalies increases if a number of minor anomalies are found. 15 Although many serious abnormalities can be observed at the time of delivery, which may necessitate referral to care providers in the NICU, some problems such as a ductal-dependent cardiac lesion, trachealesophageal fistula, or metabolic disorders may be diagnosed later during well newborn care by thorough care providers. A structured, organized, consistent approach to the tasks related to the care of the hospitalized newborn may decrease the possibility of oversight, delay, and poor outcome.…”

Prevalencia de malformaciones congénitas en recién nacidos de la región de la Araucanía

“…Un concepto más amplio, que incluye alteraciones a nivel celular y molecular, es el de anomalía del desarrollo 1 . Las malformaciones congénitas se clasifican en mayores y menores siendo las primeras, las que representan un impacto médico o cosmético significativo, las cuales nunca se consideran como una variación de la normalidad 2 . Según estudios recientes el 10% de las malformaciones son atribuidas a exposición ambiental, que incluyen: patologías maternas, abuso de sustancias ilícitas, infecciones, medicamentos, radiación, hipertermia, exposición a químicos y anomalías uterinas.…”

Epidemiologic and clinical characteristics of selected congenital anomalies at the largest Bosnian pediatric surgery tertiary center

“…Congenital anomalies (CA) refer to any morphological, functional, biochemical, or molecular defects that may develop in the embryo and fetus from conception until birth, whether detected at birth or later. [1] CA affect approximately 3% of all newborns, [2] contributing significantly to neonatal morbidity and mortality. [3] CA can be caused by single-gene defects, chromosomal aberrations, multifactorial disorders, and teratogenic factors.…”