Maternal Prenatal Screening and Serologies.

BACKGROUND: Maternal prenatal screening is essential in preventing pregnancy complications as well as preventing and/or predicting neonatal and infant medical issues after delivery that are due to certain communicable diseases. PURPOSE: This article is aimed at gathering and presenting the most recent information regarding the most common prenatal screening laboratory studies and the implications with the various diseases. METHODS/SEARCH STRATEGY: An extensive medical database search was performed and the most relevant medical texts regarding the subject of prenatal screening were obtained. FINDINGS/RESULTS: Maternal screenings should be performed at the first provider visit once pregnancy has been confirmed. Additional screenings vary based on the specific disease and on maternal risk factors. Methods of screenings involve measuring antigen or antibody titers, a combination of antigen/antibody titers, or by specialized genetic tests. IMPLICATIONS FOR PRACTICE: Providers responsible for pregnant women should be able to identify which diseases they need to screen for and how to interpret the findings. Neonatal providers should be able to interpret the findings and they should also be able to manage neonates appropriately. IMPLICATIONS FOR RESEARCH: Future research should be aimed at developing better, cost-effective tests for both existing diseases and new diseases that either impact large or small populations of pregnant women and their fetuses.

Congenital disorders of glycosylation.

Congenital disorders of glycosylation (CDG) are a group of disorders involving a defect in the synthesis of oligosaccharides. Oligosaccharides are fundamental for protein stability and cellular communication and are present in almost every cell in the human body. A defect in the synthesis of oligosaccharides can result in multisystemic effects. Congenital disorders of glycosylation are classified into type I and type II disorders, each with subgroup classifications. All CDGs are autosomal recessive disorders, with CDG type I being the most common. This article will explore both types of CDG, their clinical presentation, diagnosis, and management.

Congenital disorder of glycosylation: a case presentation.

Congenital disorders of glycosylation (CDG) are a group of rare genetically inherited disorders that involve the malfunction of attaching sugar molecules to lipids, proteins, or other organic molecules through an enzymatic process. The resulting defect in glycoprotein and glycolipid synthesis often has a heterogeneous range of multisystemic effects ranging from mild dysmorphism to profound organ failure and subsequent death. There are 2 types of CDG, type I and type II, with multiple subtypes within each. This column is a case presentation about an infant who presented with CDG type Ik.

A nurse's guide to common mechanical ventilation techniques and modes used in infants. Nursing implications.

The need for conventional mechanical ventilation (CMV) is a common one in the neonatal intensive care unit (NICU). The goals of CMV are to facilitate adequate gas exchange, minimize the risk of lung injury/damage, decrease the patient's work of breathing, and optimize the patient's comfort. Although time-cycled, pressure-limited ventilation remains the most common CMV modality, volume-cycled ventilation, assist-control ventilation, pressure-support ventilation, and pressure-control ventilation are sometimes used in the NICU. Pressure-regulated volume control, volume-guaranteed ventilation, volume-assured pressure-support ventilation, and proportional-assist ventilation are emerging hybrid modes of CMV. Although CMV is frequently life saving, it can cause complications if improperly used. Nurses are responsible for the ongoing assessment and care of infants undergoing CMV and are becoming frequently more involved in the weaning process of CMV. This article provides an overview of conventional ventilation, with a focus on common modalities, and ventilation-related nursing interventions.

Mongolian spots in the newborn: do they mean anything?

Mongolian spots are the most frequently seen birthmarks in infants. They have almost universally been regarded as benign cutaneous manifestations that have no clinical significance. Recently, however, there have been studies suggesting that Mongolian spots manifest more often in children with certain inborn errors of metabolism, including mucopolysaccharidosis and GM1 gangliosidosis.