Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions.

Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.

Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.

Measured and predicted total body water in children with myelomeningocele.

Objective: Children with myelomeningocele (MMC) have an altered body composition and an atypical distribution of total body water (TBW). The aim of the present study was to determine the accuracy of current predictive equations, based on bioelectrical impedance analysis (BIA), in determining TBW when compared with measured TBW using deuterium dilution.

Methods: Fourteen children with MMC were measured for whole body BIA and TBW (using deuterium dilution and the Plateau method).

Resting energy expenditure and body composition in children with myelomeningocele.

Purpose: Myelomeningocele is a complex disease often complicated by obesity for reasons not well understood. The objectives of this study were to determine body composition and energy expenditure of children with MMC.

Methods: Resting energy expenditure (REE), body composition and anthropometry were measured in 19 children with MMC (12 M, 7 F).

Comparison of measured sleeping metabolic rate and predicted basal metabolic rate during the first year of life: evidence of a bias changing with increasing metabolic rate.

Objective: To compare measurements of sleeping metabolic rate (SMR) in infancy with predicted basal metabolic rate (BMR) estimated by the equations of Schofield.

Methods: Some 104 serial measurements of SMR by indirect calorimetry were performed in 43 healthy infants at 1.5, 3, 6, 9 and 12 months of age.

Resting energy expenditure of children attending a rehabilitation programme following head injury.

Statement Of Purpose: Increased resting energy expenditure following head injury is well documented, but whether this increase extends into rehabilitation and whether this is affected by changes in body composition have not been studied. The aim of this study was to determine whether children attending a rehabilitation program following head injury had altered energy expenditure and body composition.

Methods: Measurements of resting energy expenditure by indirect calorimetry were performed in 21 head injured children (mean age 10.