Preterm delivery is birth occurring before 37 completed weeks of gestation. Preterm birth is the primary cause of morbidity and mortality in children especially if this occurs before 34 weeks of gestation. If preterm birth could be predicted and treated accordingly, this would greatly reduce mortality, morbidity and associated costs. ...

OBJECTIVE:To establish simultaneous pre- and postductal oxygen saturation nomograms in asymptomatic newborns when screening for critical congenital heart disease (CCHD) at ∼24 hours after birth.METHODS:Asymptomatic term and late preterm newborns admitted to the newborn nursery were screened with simultaneous pre- and postductal oxygen saturation measurements at ∼24 hours after birth. ...

Biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early. 63119 neonates were tested for BTD according to a 3-step protocol. Biotinidase activity was initially estimated through standard colorimetric method on dried blood spots, then the suspected samples were subjected to molecular analysis of the ...

AIM: The utility of screening urinalysis in asymptomatic children has been questioned based on studies done in school-age children or adolescents. The American Academy of Pediatrics (AAP) recommended to abandon this screening in 2007 but many paediatricians perform it at some point during childhood. Thus, we aimed to investigate usefulness ...

Screening for critical congenital heart disease (CCHD) using pulse oximetry has been endorsed by the American Academy of Pediatrics and the American Heart Association. We sought to determine the incidence of undetected CCHD in Tennessee and the diagnostic gap of CCHD in Middle Tennessee prior to screening implementation. The Tennessee ...

AIM: The aim of this study was to investigate the prevalence of glucose-6-phospate dehydrogenase (G6PD) deficiency in newborn infants with neonatal hyperbilirubinaemia and to compare the clinical features of G6PD-deficient and G6PD-normal newborn infants. METHODS: A total of 4906 term and preterm neonates with indirect hyperbilirubinaemia were retrospectively evaluated according ...

Abstract Background: Cytomegalovirus (CMV) pneumonitis may be severe, even lethal, following congenital infection or in premature infants with perinatal infection. Objective: To review the epidemiological, pathogenetic, clinical, and therapeutic features of prenatal and perinatal CMV lung diseases. Methods: Evaluation of all published papers listed on PubMed describing CMV pneumonitis in ...

OBJECTIVE: To verify and correlate the rate of failure in the newborn hearing screening in relation to the time of life of the newborn when the procedure is carried out. METHODS: The study focused on babies born on a maternity, from October/2010 to March/2011. Newborns possessing one or more risk ...

Abstract Objective: Measurements of neonatal metabolites are commonly used in newborn screening programs to detect inborn errors of metabolism. Variation in these metabolites, particularly in infants born preterm (<37 weeks gestation), can result from multiple etiologies. We sought to evaluate the impact of maternal complications of pregnancy and environmental stressors ...

The aim of this study was to investigate the role of quadruple test parameters in predicting the risk of delivering a small for gestational age (SGA) infant. The quadruple test results of patients performed at 16-18 weeks of pregnancy were searched retrospectively. Alpha-fetoprotein (AFP) levels higher than 2 MoM were ...

Pulmonary hypertension (PH) is a common complication of neonatal respiratory diseases, including bronchopulmonary dysplasia (BPD), and recent studies have increased awareness that PH worsens the clinical course, morbidity and mortality of BPD. Recent evidence indicates that up to 18% of all extremely low-birth-weight infants will develop some degree of PH ...

AIM: To determine the occurrence and risk factors of sudden unexpected postnatal collapse (SUPC) in presumably healthy newborn infants. METHODS: All live-born infants during a 30-month period, in five major delivery wards in Stockholm, were screened and possible cases of SUPC thoroughly investigated. Infants were >35 weeks of gestation, had ...

Congenital heart disease (CHD) is the most common birth defect and affects approximately 8 out of every 1,000 infants born each year. Despite antenatal screening and at least one examination before discharge infants with critical CHD (CCHD) are routinely not detected before discharge from the newborn nursery. Newborn screening for ...

Background:Tandem mass spectrometry has been proposed as a method of diagnosing or predicting the development of common complex neonatal diseases. Our objective was to identify metabolites associated with common complications of prematurity.Methods:We performed a retrospective analysis of medical data and metabolite measurements from routine neonatal screening on 689 preterm (<37 ...

Newborn screening for severe combined immunodeficiency (SCID) is currently being performed in many states. It is important to address diagnostic challenges while outcomes are emerging from the first several years of screening. We present the case of a premature infant whose initial newborn screen was strongly positive for SCID. Subsequent ...

OBJECTIVE: To assess the performance of a tandem mass spectrometry (MS/MS) technology in a newborn screening laboratory to simultaneously measure α-galactosidase, acid-α-glucosidase, and α-L-iduronidase for the detection of infants at risk to develop Fabry, Pompe, or mucopolysaccharidosis (MPS)-I diseases. STUDY DESIGN: Enzyme activity was assayed from a 3.2-mm punch from ...

Context:Over the years lower TSH cutoffs have been adopted in some screening programs for congenital hypothyroidism (CH) worldwide. This has resulted in a progressive increase in detecting additional mild forms of the disease, essentially with normally located and shaped thyroid. However, the question of whether such additional mild CH cases ...

BACKGROUND: Since 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba. METHODS: The hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those ...

BACKGROUND: Accurate confirmation of prenatal alcohol exposure (PAE) is required as a diagnostic criterion for the majority of children adversely affected by PAE who do not manifest the physical features associated with fetal alcohol syndrome. A number of ethanol biomarkers have been used to assess PAE, often with suboptimal results. ...

OBJECTIVES:Between 1984 and 1996, Sweden experienced an "epidemic" of clinical celiac disease in children <2 years of age, attributed partly to changes in infant feeding. Whether infant feeding affects disease occurrence and/or the clinical presentation remains unknown. We investigated and compared the total prevalence of celiac disease in 2 birth ...

OBJECTIVE: To evaluate the effectiveness of a second newborn screen for congenital adrenal hyperplasia (CAH) in the state of Colorado and report characteristics associated with cases identified on the first versus second screen. STUDY DESIGN: Colorado implemented newborn screening for CAH with 17-hydroxyprogesterone beginning August 2000. The first screening is ...

A prospective cross-sectional study was conducted in a tertiary care center to determine the accuracy of transcutaneous bilirubin measurements (TcB) measured by the Konica Minolta JM-103™ meter compared to total serum bilirubin (TSB) in Asian infants aged 5-14 days. There were 405 late-preterm and term infants involved, and 455 paired samples ...

Congenital biliary atresia is an incurable disease of newborn infants, of unknown genetic causes, that results in congenital deformation of the gallbladder and biliary duct system. Here, we show that during mouse organogenesis, insufficient SOX17 expression in the gallbladder and bile duct epithelia results in congenital biliary atresia and subsequent ...

We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.

Cutaneous lesions are commonly seen in the newborn period and exhibit inconsistency from the skin lesions of an adult. The present study was carried out with an aim to determine the frequency of physiologic and pathologic cutaneous findings in newborns. Typically, 1234 newborns were included in this study. A questionnaire ...

OBJECTIVES: Newborn bloodspot screening (NBS) panels have expanded to include conditions for which treatment effects are less certain, creating debate about population-based screening criteria. We investigated Canadian public expectations and values regarding the types of conditions that should be included in NBS and whether parents should provide consent. METHODS: Eight ...

AIMS: To determine the true prevalence of congenital heart disease (CHD) at live birth using echocardiographic screening. METHODS: A total of 5190 consecutive newborns from two secondary hospitals were included. Each neonate had a complete clinical evaluation with echocardiographic diagnosis at average 47 hours of age. Newborns with persistent CHD ...

Abstract Objective: To determine whether the levels of inflammatory mediators in gastric fluid (GF) of a premature newborn are associated with those in amniotic fluid (AF) of the newborn's mother. Patients: Twenty-three pairs of pregnant women and their premature newborns <35 weeks gestation, born by Cesarean sections. Methods: Amniotic fluids ...

INTRODUCTION: Babies with cardiac anomalies are often asymptomatic at birth, and many remain undetected despite routine newborn examination. We retrospectively assessed the effect of routine pulse oximetry in detection of such anomalies from a hospital birth population of 31 946 babies born between 1 April 1999 and 31 March 2009. ...

Abstract Purpose: To report the four-year experience of the Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP) telemedicine initiative, which was developed to reduce the risk of blindness from retinopathy of prematurity (ROP). Materials and methods: A retrospective analysis of the SUNDROP archival data between 12/1/2005 and 11/30/2009. ...

Abstract Objective. The aim of this study was to determine whether a failure of neonatal hearing screening affected the anxiety level of parents of high-risk infants. Methods. 288 parents of infants included in the neonatal hearing screening protocol of our Institution were tested with the Spielberger State-Trait Anxiety Inventory and ...

Early onset neonatal group B streptococcal (GBS) sepsis is a serious neonatal illness with high morbidity and mortality. The disease can present in two forms: early clinical manifestation with respiratory distress soon after birth or late presentation with gradual onset of signs of sepsis. The former carries a high risk ...

ABSTRACT: BACKGROUND: Congenital malaria is defined as malaria parasitaemia in the first week of life. The reported prevalence of congenital malaria in sub-Saharan Africa is variable (0 - 46%). Even though the clinical significance of congenital malaria parasitaemia is uncertain, anti-malarial drugs are empirically prescribed for sick newborns by frontline ...

Infants are exposed to the endocrine disruptor bisphenol A (BPA) through breast milk and baby formula. Detoxication by conjugation of BPA may be limited in infants. We demonstrate BPA exposure in 11 neonates and 1 young infant, but find no evidence of a low capacity for BPA conjugation.

AIM: To determine the normal SpO(2) in healthy term newborns at mild-altitude (MA, 780 meters) compared to sea level (SL), within the context of universal screening for critical congenital heart disease (CCHD) METHODS: we studied 199 (119 at MA and 80 at SL) consecutively born healthy newborns. SpO(2) recordings were ...

Background Ultrasonographic (US) screening of the urinary tract (UT) in infants was used to determine if there is a connection between the frequency of pyelocaliceal dilation (PCD) in asymptomatic infants with normal antenatal US screening and occurrence of congenital anomalies of kidney and urinary tract (CAKUT) and urinary tract infections ...

Acute scrotal abscess in neonates is rare and may mimic testicular torsion. An unusual case of unilateral scrotal abscess caused by Candida albicans in a preterm infant is presented. As far as we are aware, this complication has not been reported before.

The finding of a congenital fibrous band during laparotomy for intestinal obstruction is extremely rare. Preoperative diagnosis is challenging and no characteristic radiological findings have been described. We report the case of a premature baby in whom incomplete intestinal obstruction was due to a congenital band originating from the duodeno-jejunal ...

This statement revises a previous statement on screening of preterm infants for retinopathy of prematurity (ROP) that was published in 2006. ROP is a pathologic process that occurs only in immature retinal tissue and can progress to a tractional retinal detachment, which can result in functional or complete blindness. Use ...

BACKGROUND: Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is caused by genetic variants that disrupt the function of ADA. In its early-onset form, it is rapidly fatal to infants. Delayed or late-onset ADA-SCID is characterized by insidious progressive immunodeficiency that leads to permanent organ damage or death. Quantification of T-cell receptor ...

A potential role of chemokines in the pathophysiology of Autism Spectrum Disorders (ASDs) has been previously suggested. In a recent study we examined levels of three inflammatory chemokines (MCP-1, MIP-1α and RANTES) in samples of amniotic fluid of children diagnosed later in life with ASD and controls frequency-matched to cases ...

PURPOSE: Severe combined immunodeficiency (SCID) is characterized by failure of T lymphocyte development and absent or very low T cell receptor excision circles (TRECs), DNA byproducts of T cell maturation. Newborn screening for TRECs to identify SCID is now performed in several states using PCR of DNA from universally collected ...

BACKGROUND: In 2008, the melamine-tainted-milk incident started with reports of increased incidence of urolithiasis in infants in China. Affected children were screened for urolithiasis. OBJECTIVE: The purpose of this study was to analyze sonographic characterization of infant melamine-induced urolithiasis. MATERIALS AND METHODS: Transabdominal US examination was done in 603 infants ...

This paper reports a rare case of elevated lipoproteinemia(a) that evolved into thrombosis during the neonatal period. During the first days of life, the patient presented with an intracardiac thrombus, pulmonary thromboembolism and a hemorrhagic stroke. Initially, the results of the blood tests performed to screen for thrombophilic diseases were ...

Purpose: Congenital anomalies of the kidneys and urinary tract (CAKUT) are among the most common anomalies in newborn infants, and may cause chronic renal disease in newborns. We investigated the sensitivity and specificity of different ultrasound-based screening strategies for CAKUT. Materials and Methods: Newborns (n = 4331) were analyzed for CAKUT in ...

Our objective is to systematically review the current medical literature to assess the accuracy of the combination of fetal fibronectin (fFN) plus ultrasound assessment of cervical length (CL) as screening tools for preterm labor and prediction of preterm birth (PTB), and to compare this to the traditional clinical method of ...

OBJECTIVE: To describe pancreatic function during the first year of life in infants diagnosed with cystic fibrosis (CF) using serial fecal elastase measurements. STUDY DESIGN: This was a longitudinal study of 82 infants diagnosed with CF through newborn screening. Monthly stool samples were sent to a central laboratory for fecal ...

Group B Streptococcus (GBS) emerged as the leading cause of newborns infection in the United States in the 1970s. In the 1980s clinical trials demonstrated that giving intrapartum intravenous ampicillin or penicillin to mothers at risk was highly effective at preventing invasive GBS disease in the first week of life ...

As younger preterm infants are able to survive, more extremely preterm infants are at risk of developing retinopathy of prematurity (ROP). To investigate the incidence, progression and risk factors of ROP in extremely preterm infants in Korea, the medical records of infants born before 25 weeks gestation were retrospectively reviewed. ...

To survey the current inclusion criteria used for retinopathy of prematurity (ROP) screening across tertiary level 3 neonatal intensive care units (NICUs) in Canada. Clinical directors from 29 level 3 NICUs in Canada. Survey of all 29 level 3 NICUs in Canada in September 2010. The survey inquired about the ...