Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program

OBJECTIVES: To compare the cost of diagnosing cystic fibrosis (CF) through a newborn screening program with the traditional method and to estimate the cost of CF diagnosis if a national newborn screening program is implemented. STUDY DESIGN: Surveys were conducted to determine the annual number of sweat tests in 1991 and in 2000 after implementation of statewide screening. A national survey of sweat test costs was used to estimate the annual expense for diagnosing CF in the United States through newborn screening. RESULTS: Since the introduction of newborn screening for CF, the numbers of sweat tests ordered annually have decreased from 1670 to 804 (including 134 follow-up tests from screening). The current estimated annual cost of Wisconsin CF newborn screening and diagnosis is $4.58 per newborn infant. The estimated annual cost per newly diagnosed CF infant using the traditional method is $4.97 per newborn infant. If no additional sweat tests were ordered outside of the newborn screening program, the estimated annual cost of a Wisconsin CF newborn screening and diagnosis is $2.66 per newborn and $2.47 per newborn for a national CF newborn screening program. CONCLUSIONS: A CF newborn screening program provides a potentially cost-saving alternative to the traditional method of diagnosis of CF.     

Betaine and homocysteine concentrations in infant formulae and breast milk

BACKGROUND: Early diagnosis and treatment of homocystinuria with methionine-free or low methionine formulae significantly improve prognosis in children found by newborn screening and treated soon after birth. Betaine (Bet) supplementation is also an effective strategy for dietary treatment of homocystinuria. However, previous reports on diet therapy have only examined methionine and cysteine concentrations but not those of Bet and homocysteine (Hcy) in infant diets. METHODS: We measured Bet and Hcy concentrations in three methionine-free formulae, five infant starter formulae, and 33 samples of human breast milk from 10 mothers. RESULTS: In methionine-free formulae, Hcy but not Bet was isolated. However, in human breast milk and infant starter formulae, both Bet and Hcy were detected. However, the Bet concentration was not sufficient for the treatment. CONCLUSIONS: Our study suggests that methionine-free formulae should have Hcy eliminated and be fortified with Bet to the concentration of 150 mg/dL for the treatment of homocystinuria.     

The pediatrician's role in recognizing and intervening in postpartum depression

Increasing evidence of postpartum depression is encouraging pediatricians to include screening and intervention for postpartum depression in standard newborn and infant care. Pediatricians have the most frequent exposure to mothers and infants in the most high-risk time period and they have a vested interest in the well-being of the child and mother. Because the time required to achieve basic screening and referral services is minimal, there is enough evidence that postpartum screening and intervention are crucial components of comprehensive newborn and infant care. It is incumbent upon pediatricians to screen for and intervene in cases of postpartum depression to provide thorough care for infants and their families.     

Newborn screening: a literature review

Newborn screening is the largest genetic testing effort for newborns in the U.S. Its purpose is to identify newborns who are at risk for metabolic, endocrine, or hematologic disorders. A review of the literature was conducted to determine the benefits of newborn screening; specimen collection timing and handling; ethical considerations of screening; as well as current practices regarding consent, notification of results, and follow-up procedures. The use of tandem mass spectrometry for expanded newborn screening and postmortem diagnosis of unexplained infant death was also reviewed. This article is intended to educate health care providers in the areas of controversy that surround the U.S. newborn screening program, with the hope of encouraging further research in this mportant area of newborn care.     

Psychosocial issues in newborn screening for cystic fibrosis

Newborn screening for cystic fibrosis remains controversial because there is still little agreement that prophylactic interventions provide substantial long-term benefits. In such situations, where there are some medical benefits and the costs are not prohibitive, it is important to consider the psychosocial implications of screening. This paper reviews the evidence on the psychosocial issues raised by newborn screening for cystic fibrosis, in particular the issues of parental attitudes to screening, the evidence from families with an affected infant, the evidence from families with a carrier infant and the lessons for service delivery.     

The gut mucosal immune system in the neonatal period

Invasive sepsis in the newborn period is a major cause of childhood morbidity and mortality worldwide. The infant immune system undoubtedly differs intrinsically from the mature adult immune system. Current understanding is that the newborn infant immune system displays a range of competencies and is developing rather than deficient. The infant gut mucosal immune system is complex and displays a plethora of phenotypic and functional irregularities that may be clinically important. Various factors affect and modulate the infant gut mucosal immune system: components of the intestinal barrier, the infant gut microbiome, nutrition and the maternal–infant hybrid immune system. Elucidation of the phenotypic distribution of immune cells, their functional significance and the mucosa‐specific pathways used by these cells is essential to the future of research in the field of infant immunology.     

Bilateral renal asplasia without Potter's syndrome

A newborn infant with bilateral aplasia of kidneys and ureters and a rudimentary bladder is reported. Other manifestations of Potter's syndrome (oligohydramnios, lung hypoplasia and an abnormal face) were missing as were other congenital malformations. Deviations from the full picture of Potter's syndrome seem to be rare. This case, however, shows that bilateral renal aplasia cannot be excluded as a cause of anuria in a newborn infant, even if all other manifestations of Potter's syndrome are missing.     

Implications of carrier identification in newborn screening for cystic fibrosis

OBJECTIVE: To investigate the psychosocial implications for families whose infant was identified as a cystic fibrosis carrier by newborn screening. DESIGN: Prospective psychosocial assessment. SETTING: Primary care. RESPONDENTS: Study: (a) families of an affected infant identified by screening (n = 9); (b) families of a carrier infant identified by screening (n = 10). Control: group of mothers from the general population (n = 82). INTERVENTIONS: Questionnaires and semistructured interviews. MAIN OUTCOME MEASURES: Attitude to screening, assessments of the mother/baby relationship, anxiety, wellbeing. RESULTS: All families were in favour of screening, with no evidence that the mother/baby relationship, anxiety or wellbeing had been adversely affected. Parents, however, did identify problems in terms of the service delivery protocol and genetic counselling practice. CONCLUSION: Six months after disclosure, carrier identification was not perceived by parents to be problematic.     

Ulcerative esophagitis. A rare source of upper gastrointestinal bleeding in a neonate. Use of fiberoptic endoscopy for diagnosis

A case of upper gastrointestinal hemorrhage in a newborn infant due to ulcerative esophagitis is described. This is a previously undescribed cause of upper gastrointestinal neonatal bleeding. This case further illustrates the safety and efficacy of fiberoptic endoscopy in elucidating the source of upper gastrointestinal bleeding in the immediate newborn period.     

Failed detection of complex congenital heart disease (including double outlet right ventricle and total anomalous pulmonary venous return) by neonatal pulse oximetry screening

We report on a newborn infant with complex congenital heart disease (CHD) featuring double outlet right ventricle and hypoplastic left ventricle who had postductal oxygen saturation well above 95% and thus eluded pulse oximetry screening for CHD.     

Hearing screening of high-risk newborns with brainstem auditory evoked potentials: a follow-up study

Numerous techniques have been used in attempts to find a reliable and efficient screening method for determining auditory function in the newborn. The brainstem auditory evoked potential (BAEP) is the latest method advocated for that purpose. The BAEP was evaluated as a hearing screening test in 168 high-risk newborns between 35 and 45 weeks of conceptual age. Follow-up data were obtained after 1 year (mean 17.3 months) on 134 of the infants (80%). Normal hearing was defined as a reproducible response in both ears to a 25 dB normal hearing level (nHL) click stimulus; 21 infants (12.5%) failed the initial screening test. Follow-up on 19/21 infants revealed 18 infants with normal hearing and one infant with an 80 dB nHL bilateral hearing loss substantiated. One infant with an abnormal screening test died before retesting, and the other infant was lost to follow-up but had only a unilaterally abnormal BAEP. None of the infants with a normal BAEP screening study had evidence of hearing loss on retesting. Sensitivity of the BAEP was 100%, specificity was 86%, predictive value of a positive test was 5.26%, and the predictive value of a negative test was 100%. The incidence of significant hearing loss in our population was between 0.75% (1/134 infants) confirmed, and 2.24% (3/134 infants) including infants who failed screening but were lost to follow-up. The BAEP is a sensitive procedure for the early identification of hearing-impaired newborns. However, the yield of significant hearing abnormalities was less than predicted in other studies using BAEP for newborn hearing screening.     

Status of Newborn Screening and Inborn Errors of Metabolism in India

Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders that cause significant neonatal and infant mortality. Expanded newborn screening which detects these disorders at birth is the standard preventive strategy in most countries. Prospective studies to evaluate the impact of these in the Indian population are lacking. The imminent need to address this lacuna warrants a review of available pan India data, as well as efforts for a carefully conducted prospective assessment of the burden of IEM. Published data on IEM in the Indian population comprising universal prospective screening and screening in selected subgroups (patients admitted to pediatric/neonatal ICUs, patients with developmental delay/mental retardation) was collected through a systematic search. The primary focus was to get an estimate of the disease burden in the Indian population. A true prevalence of IEM in India is not available. The systematic review identifies and stratifies the various situations where IEM are found. Data collected by universal screening of the low risk population is essential to identify the true prevalence of IEM in India.     

Severe cardiac and ophthalmologic malformations in an infant exposed to diphenylhydantoin in utero

A newborn male infant with multiple congenital malformations including lethal cardiac malformations and severe ophthalmic malformations is described. The infant was exposed in utero to hydantoin. There is no other identifiable cause for the malformations apparent in the infant's or his family's history.     

Neonatal jaundice and splenic hematoma

In the newborn period, unconjugated hyperbilirubinemia (UHB) is common, multifactoral, and associated with a variety of physiologic and pathologic conditions. The most commonly identified pathologic cause leading to hyperbilirubinemia is hemolytic disease of the newborn. We report a five-days-old female infant with neonatal jaundice secondary to splenic hematoma.     

CEREBRAL ARTERIOVENOUS FISTULA AND FATAL HEART FAILURE IN THE NEWBORN: A CASE REPORT*

Congestive heart failure in children usually occurs in the early months of life and is most often caused by congenital heart disease. This case report of a newborn infant illustrates a rare cause which proved rapidly fatal. It is re-affirmed that examination of an infant with heart failure should include auscultation of the skull for murmurs produced by arteriovenous malformations.     

An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease

We describe an asymptomatic male infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency who came to medical attention by newborn mass screening due to elevated blood leucine. The diagnosis was made by abnormal urinary organic acids at 20 days of age and was confirmed by assay of the carboxylase activities in cultured skin fibroblasts. Conclusion More attention should be paid to slight elevations of leucine levels in newborn mass screening. Urinary organic acid analysis should be performed in conspicuous cases. Received: 9 October 1996 / Received in revised form and accepted: 18 February 1997     

Screening and Support for Infant Safe Sleep: A Quality Improvement Project

Infant sleep is an anticipatory guidance topic that is discussed frequently at well child checks, starting with the newborn visit. It is challenging to cover a large amount of information in a short visit. This article describes a quality improvement project implemented at a pediatric primary care practice to improve screening for infant safe sleep. The screening form was updated to include questions from the Pregnancy Risk Assessment Monitoring System (PRAMS). This updated screening better captured actual sleeping practices, allowing for more targeted education     

Neonatal airway obstruction caused by rapidly growing nasopharyngeal teratoma

A case report is presented of a rapidly growing congenital nasopharyngeal teratoma (epignathus) in a preterm infant, leading to severe upper airway obstruction. Prenatal diagnosis by ultrasonography did not reveal the condition because the tumour masses were initially small and there was no polyhydramnios. Epignathus is a rare cause of upper airway obstruction of the newborn that can grow rapidly in the neonatal period and should be treated surgically.
Conclusion:  Epignathus is a rare cause of upper airway obstruction of the newborn that can grow rapidly in the neonatal period.     

Hypertension in the newborn baby

Hypertension is rare in the newborn infant. It has a cumbersome definition and diagnosis, and screening is not justified using present definitions and technology. Thresholds for starting antihypertensive treatment in the first month of life are not clear, and the treatment is difficult, with idiosyncratic responses to drugs in neonates with varying renal and hepatic function.