We are reporting a child with congenital panhypopituitarism, in whom deficient fetal steroidogenesis was suspected prenatally because of undetectable estriol levels measured in the maternal triple-marker screen. No fetal abnormalities were detected by ultrasonography. Amniocentesis demonstrated a normal 46,XX karyotype. Measurement of maternal urinary steroids failed to show elevation in ...

With the rapid implementation of universal newborn hearing screening (UNHS) programs, a test of middle-ear function for infants is urgently needed. Recent evidence suggests that 1 kHz tympanometry may be effective. Normative data are presented for newborn intensive care unit (NICU) graduates tested at a mean age of 3.9 weeks ...

INTRODUCTION: For many years, attempts have been made to find an easy, efficient and inexpensive method to screen children for amblyogenic ametropia. Wave-front analysis is a new way to determine the refractive state of the eye from a distance. This technique could be a useful tool for infant screening. PURPOSE: ...

AIMS: To assess, using a decision model, the efficiency of ultrasound based and clinical screening strategies for developmental dysplasia of the hip. METHODS: The additional cost per additional favourable outcome was compared for the following strategies: clinical screening alone using the Ortolani and Barlow tests; addition of static and dynamic ...

The advent of expanded newborn screening has resulted in huge advances in the ability to detect presymptomatic infants with a large number of inborn errors of metabolism. Widespread implementation of this type of screening will ultimately lead to reduced mortality and morbidity from these diseases and also will increase our ...

OBJECTIVE: To examine the impact of early discharge on newborn metabolic screening. STUDY DESIGN: Metabolic screening results were obtained from the Alabama State Lab for all infants born at our hospital between 8/1/97, and 1/31/99, and were matched with an existing database of early discharge infants. An early newborn discharge ...

STUDY OBJECTIVE: We estimated the accuracy of the total peripheral WBC count as a screen for bacteremia in febrile young infants. METHODS: We evaluated, retrospectively, the performance characteristics of linear and nonlinear (U-shaped) logistic models for predicting bacteremia that are based on the total peripheral WBC count. Research subjects were ...

We studied the reproducibility of ultrasonographic screening examination of the hip when read by diagnostic radiographers. In order to determine interobserver variability, 200 ultrasonograms were classified according to Graf's method by five observers (four radiographers and one radiologist). The kappa values for interobserver variability indicated moderate agreement (kappa 0.47) for ...

Radiographic follow-up is questioned for infants with hip clicks who have normal results from ultrasound scan examination of the hips. Infants whose sole risk factor for developmental dysplasia of the hip was a soft tissue hip click who had a normal ultrasound scan on initial assessment were identified. A follow-up ...

Transiently evoked otoacoustic emissions (TEOAEs) have been widely used in universal newborn hearing screening programs. Although there is consensus with regard to the avoidance of early screening, especially during the first hours after birth, the optimum testing day is not yet unanimously accepted. The aim of the present study was ...

Real-time ultrasonography has been used for diagnosis and screening of developmental dysplasia of the hip for several years. If diagnostic criteria are well established, the use of sonography in follow-up of treated infants remains extremely variable. The aims of this study were (a). to describe the normal sonographic anatomy of ...

Early diagnosis of cystic fibrosis (CF) provides an opportunity to improve disease control and prevent early complications. Of patients with CF in the United States, 10% are identified early through newborn screening (including infants born in Colorado, Massachusetts, New Jersey, New York, Wisconsin, Wyoming, and parts of California, Connecticut, Pennsylvania, ...

BACKGROUND: Clinical examination of newborns has been shown to be inadequate for the early detection of developmental dysplasia of the hip (DDH). It is debatable whether US examination is a valid alternative. OBJECTIVE: To contribute further knowledge to the natural history of DDH; to examine the distribution of hip morphology ...

Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short-chain acyl-CoA dehydrogenase (SCAD) and one with isobutyryl-CoA dehydrogenase deficiency were detected on the basis of elevated butyrylcarnitine/isobutyrylcarnitine (C4-carnitine) concentrations in newborn blood spots analyzed by tandem mass spectrometry. For three ...

Universal Newborn Hearing Screening began in 2 Honolulu hospitals in 1992, and by 1999, all 14 civilian birthing facilities in Hawaii were providing screening. Examination of 1998 Hawaii data indicated that approximately 13% of infants who did not pass initial hearing screening in the hospital did not return for the ...

OBJECTIVE: This study aimed to clarify the reasons why clinical otosclerosis, a very common disease among Caucasians, is not prevalent among Japanese. STUDY DESIGN: The incidence, site, activity, and volume of otosclerotic foci were examined in 1011 temporal bone sections from 507 Japanese individuals. SETTING: This study was prepared at ...

Neonatal screening (NS) is a medical act in the context of preventive medicine aimed at the early identification of infants affected by certain conditions that threaten their life and long-term health, for which a timely intervention can lead to a significant reduction of morbidity, mortality and associated disabilities. It emerged ...

BACKGROUND: Recent widespread use of ultrasound has led to new efforts at screening for congenital kidney and urinary tract abnormalities. However, a standard screening methodology, criteria defining abnormalities, and follow-up procedures remain to be established. In order to establish screening criteria for these abnormalities, we performed a preliminary study in ...

OBJECTIVE: To evaluate the adequacy of newborn hearing screening in the identification of hearing loss in post-neonatal intensive care unit (NICU) infants. METHODS: Eighty-two post-NICU infants who had initially passed automated auditory brainstem response (AABR) screening were studied prospectively between November 1997 and July 1999. Tympanometry and transient evoked otoacoustic ...

OBJECTIVE: To determine what factors are associated with newborn hearing loss. METHODS: We retrospectively reviewed hospital records of all neonates found on screening to have hearing loss as well as a cohort with normal audiometric findings from January 1998 through December 2000. The two groups were compared for various maternal, ...

OBJECTIVE: To determine the sensitivity, specificity, predictive value, and accuracy of a program of pulse oximetry screening of asymptomatic newborns for critical congenital cardiovascular malformation (CCVM). METHODS: Pulse oximetry was performed on asymptomatic newborns in the well-infant nurseries of 2 hospitals. Cardiac ultrasound was performed on infants with positive screens ...

AIMS: To review an 11-year period of screening for retinopathy of prematurity (ROP) in the north of England by a single ophthalmologist. To identify the gestational ages and birth weights of babies reaching different stages of ROP. To investigate the workload involved in screening to detect threshold ROP, and that ...

A "missed" case of congenital hip dislocation (CDH) can be a disaster for the patient and the outcome may be poor. Considerable resources are expended on screening programmes to identify appropriate cases early but a recent change in terminology to developmental dysplasia of the hip (DDH) and a realisation that ...

Hearing loss can be considered as the most common birth defect. Early detection of hearing loss by screening at, or shortly after, birth and appropriate intervention are critical to speech, language and cognitive development. In the present study, the characteristics of Transient Evoked Otoacoustic Emissions have been evaluated as a ...

PURPOSE: The second Cambridge Infant Vision Screening Program examined whether screening for accommodative errors by using videorefraction without cycloplegia could effectively serve as a first stage of screening for refractive errors, measured by standard cycloplegic retinoscopy. The screening also included an orthoptic examination for detection of strabismus. METHODS: All infants ...

Objective: This thesis investigated the occurrence of hyperbilirubinemia in infants born to diabetic mothers. Because hyperbilirubinemia is a risk factor for hearing loss, the hearing status of these infants was also investigated by reviewing outcomes of hearing screenings. Methods: This was a retrospective study of 100 neonates’ medical charts that ...

There are several important messages for pediatricians concerned with what happens to patients after identification through newborn screening. Particularly important in many of the disorders are the developmental aspects of outcome. There are certain basic assumptions that are essential in improving developmental outcome as a result of newborn screening: 1) ...

In Indonesia, newborn screening is not yet a policy, and the incidence of preventable causes of mental retardation detected by newborn screening is not known. Congenital hypothyroidism (CH) is not infrequent. Without a screening program, unrecognized CH patients were neglected for years. Since May 1999, the International Atomic Energy Agency ...

We evaluated the possibilities of exploitation of several mycoparasitic fungi in the biocontrol of cucurbit powdery mildew (Sphaerotheca fusca) in melon greenhouses. To simplify the screening, an in vitro biological control test on detached leaves of melon has been used and a detailed microscopic analysis of the interactions between mycoparasites ...

We tested a real-time PCR assay targeting the Pneumocystis jirovecii mitochondrial large subunit rRNA gene on 240 archival nasopharyngeal aspirates from non-immunosuppressed infants. The sensitivity of this assay appeared close to that of a conventional nested-PCR assay targeting the same locus. Because of its one-step procedure, and its sensitivity and ...

OBJECTIVE: The aim of this study is to screen infants admitted to the Neonatal Intensive Care Unit (NICU) for hearing loss METHODS: One hundred and thirty newborns admitted to NICU were screened for hearing loss using otocaustic emission (OAE). Tympanometry was performed using Grason Stadler Incorporation (GSI) 37 and auditory ...

An early, reliable diagnosis and description of hearing loss is essential in determining appropriate treatment to minimize potential developmental delays attributed to the loss. Objective assessment of auditory function is possible shortly after birth. Both objective and subjective measures of auditory status are used in a test battery approach to ...

Two technologies are currently used to screen newborn infants for hearing, auditory brainstem response (ABR), and otoacoustic emissions (OAEs). Each technology is based on detecting the infant's physiologic response to auditory stimulation. ABR is a short-latency auditory evoked response originating from eighth nerve and brainstem auditory pathway structures and detected ...

Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism associated with this metabolite. Ten of these 20 infants had significant concentrations of both 3-hydroxyisovaleric acid ...

Nongenetic as well as genetic etiologies must be explored in the child with identified hearing loss. Graduates of the neonatal intensive care unit are at increased risk for developing hearing loss due to hypoxia, hyperbilirubinemia, very low birth weight, and ototoxic medications. Although meningitis has decreased in frequency, it is ...

AIMS: To assess short and longer term parent reported impacts of false positive referrals in the Victorian Infant Hearing Screening Program (VIHSP). METHODS: Mailed retrospective case-control survey of infants consecutively referred to VIHSP between December 1998 and April 1999 for whom audiology did not confirm permanent hearing loss, comprising 137 ...

A project to establish the Thailand National Neonatal Screening Program was started in 1996 with the objective of screening every newborn for congenital hypothyroidism and phenylketonuria. Over a million newborns were screened and over 430 abnormal cases were detected. A study was also conducted to determine the feasibility of including ...

OBJECTIVE: To evaluate the effect of Early Start, a managed care organization's obstetric clinic-based perinatal substance abuse treatment program, on neonatal outcomes. STUDY DESIGN: Study subjects were 6774 female Kaiser Permanente members who delivered babies between July 1, 1995 and June 30, 1998 and were screened by completing prenatal substance ...

OBJECTIVE: To determine pass and refer rates, and identify risk factors relating to refer responses, in neonates screened using distortion-product otoacoustic emissions (DPOAEs). MATERIAL AND METHODS: A total of 435 neonates admitted to the neonatal intensive care unit (NICU) of the Philippine General Hospital between May and October 2000 were ...

Births in Singapore are almost exclusively in hospitals and this is conducive to mass newborn screening. Mass newborn screeningbegan in 1965 for G6PD deficiency and has led to successful eradication of the complicating kernicterus. Screening has also identified the distinct ethnic and sex linked variations in incidence. The predominant molecular ...

AIM: As part of a future national neonatal hearing screening programme in The Netherlands, automated auditory brainstem response (AABR) hearing screening was implemented in seven neonatal intensive care units (NICUs). The objective was to evaluate key outcomes of this programme: participation rate, first stage success rate, pass/referral rates, rescreening compliance, ...

OBJECTIVES: To investigate the predictive role that neonatal birth parameters of positive newborns at phenylketonuria (PKU) screening have on false-positive and positive results. We reviewed 195 newborns (115 males and 80 females) that had false-positive results between 1998 and 2001. A total of 4386 randomly selected neonates (2191 males and ...

OBJECTIVES: Early identification of hearing impairment may improve language outcomes and subsequent school and occupational performance of the deaf. Universal newborn hearing screening (UNHS), currently mandated by 32 states, can reduce the median age of identification of hearing impairment from 12 to 18 months to 6 months or less. However, ...

Both eyes of 74 healthy 2-12-month-old human infants were refracted twice with the new Welch Allyn SureSight non-cycloplegic autorefractor. At least one reliable estimate of sphere and cylinder was obtained from both eyes of all babies attempted, and 88% of infants contributed two estimates from each eye. These measurements were ...

In our screening of marine streptomycete isolates for bioactive components, a new macrolide antibiotic designated as chalcomycin B (1b) was isolated from the culture broth of a marine Streptomycete isolate B7064 together with chalcomycin (1a) as the active principles. The structure of the new antibiotic was determined by EI and ...

BACKGROUND AND PURPOSE: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with defects in steroidogenesis. Its wide and non-specific clinical spectrum poses problems for early diagnosis. Without a screening program, affected newborns may be missed, even though they have a life-threatening illness. The purpose of this study was to ...

OBJECTIVE: To evaluate the costs and benefits of a group B streptococci screening strategy using a new, rapid polymerase chain reaction test in a hypothetical cohort of expectant mothers in the United States. METHODS: DESIGN: Cost-benefit analysis using the human capital method. We developed a decision model to analyze the ...

BACKGROUND: In 1989, Ramsey Family and Community Medicine Residency adopted a population-based focus for teaching and clinical activities based on the principles of community-oriented primary care (COPC). Evaluation and outcomes measurement proved problematic for each of the five COPC projects we implemented. METHODS: Surrogate measures, or key clinical indicators, were ...

Newborn screening for congenital adrenal hyperplasia (CAH) is justified by the sometimes difficult clinical diagnosis and the risks associated with missed diagnosis, particularly the life-threatening salt-wasting crisis. In Switzerland, nationwide screening for CAH by measuring 17-hydroxyprogesterone levels in dried blood spots was introduced in 1992. At the Zurich University Children's ...

The hips of infants 2- to 4-weeks-old were investigated with ultrasonography. In all cases, ultrasonography verified morphologically normal hips; however, either a bilateral or unilateral instability of the hip could be provoked as demonstrated by ultrasonography. The first series of 27 infants (41 hips) were treated with abduction splint (Frejkas ...