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PubMed1997

Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity.

To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal screening in an area with high allelic heterogeneity, we designed a special protocol. Spot trypsin estimation at birth, trypsin re-testing after 1 month, meconium lactase testing and mutation analysis of delta F508, R1162X and N1303K, were retrospectively clustered according to different patterns (trypsin/lactase/mutation; trypsin/lactase/re-testing; trypsin/mutation) and compared. The programme, which lasted 2 years (1993-94) and covered most of North-eastern Italy, included 95,553 screened newborns. Thirty-four affected babies were detected by screening and one by meconium ileus (incidence 1/2730). The combined use of trypsin, lactase and mutation analysis in cystic fibrosis neonatal screening permits a better sensitivity compared to the two other combinations (34 diagnoses vs 32 in both cases). Moreover, the higher specificity of the former method (false positives 42 vs 148) allows a reduction of recalls, which cause considerable anxiety. We confirm in trypsin-positive newborns an increased frequency of cystic fibrosis heterozygotes (1/17).

Clinical Protocols↗

PubMed1997

21-Hydroxylase deficiency: screening and incidence in Israel.

BACKGROUND: Neonatal screening for congenital adrenal hyperplasia was introduced in 1977. However, even today only a few national screening programs exist and their cost effectiveness is still debatable. This study was conducted in order to evaluate the advisability of a national or regional screening program in Israel. METHODS: From June 1987 until December 1992 we screened a countrywide random sample of 113,846 newborns for 21-hydroxylase (21-OH) deficiency measuring 17alpha-OH progesterone (17-OHP) from blood spotted on filter paper. Between January 1993 and August 1995 we continued the screening program concentrating on the population of northern Israel. A total of 56,958 newborns were screened. We compared these findings with the incidence of 21-OH deficiency in the total population born in Israel during the years 1986-1991. RESULTS: In the countrywide screening program, 4 newborns (2 Arabs and 2 Jews) were found to have levels of 17-OHP between 409 and 2,049 nmol/l (2 males and 2 females). This constitutes a low incidence of 1 in 28,462 live births. In the north-Israel screening program 4 newborns (all Arabs) were detected (2 males and 2 females) constituting a much higher incidence of 1 in 14,240 live births. The data obtained from the archives revealed that the incidence of 21-OH deficiency nationwide during the years 1986-1991 was 1:19,000 live births, 1:30,000 for Jews and 1:8,000 for Arabs. The incidence of 21-OH deficiency among Arab newborns in the northern part of the country was as high as 1:5,000 (14:71,130). The female to male (F:M) ratio was 2.6:1 and the ratio of the salt-losing to the simple virilizing variant was 5:1. Two male patients were diagnosed prenatally, 21 patients (17 F and 4 M) during the first month after birth and 6 others subsequently. CONCLUSIONS: The high F:M ratio of 21-OH deficiency in the total population compared to a 1:1 ratio in our random screening programs suggests that 21-OH-deficient male patients in the general population might have been missed or died early due to a salt-losing crisis. The high incidence of this disease in the northern part of the country and especially among the Arabs, suggests that screening in this part of the country, especially among the Arab population, is warranted and might save the lives of some male patients.

Adrenal Hyperplasia, Congenital↗

PubMed1992

Congenital hypothyroidism in Taiwan: experience before mass screening.

The clinical data of 91 patients with congenital hypothyroidism, not detected by neonatal screening, were reviewed. Our results disclosed that congenital hypothyroidism in Taiwan is more common in girls than boys, with a female to male ratio of 1.8:1. The majority of our patients were from a first pregnancy. Only 4.8% of our patients had a history of prolonged gestation, and the median value of birth weight in these patients was 3,300 g. Both of these data are comparable to those of the normal population. Short stature, constipation, dry skin and periorbital edema were the most common symptoms and signs. An ectopic thyroid gland was the most common type of congenital hypothyroidism in our series. The conditions of most of our patients were detected after the age of three months; poor mental prognosis was expected. However, it is hoped that neonatal screening programs for congenital hypothyroidism in Taiwan can improve such situations.

Adolescent↗

PubMed2001

Newborn screening for congenital adrenal hyperplasia in the Netherlands.

OBJECTIVE: To evaluate whether congenital adrenal hyperplasia (CAH) patients can be detected by newborn screening before the occurrence of life-threatening salt wasting and whether the prevalence, specificity, and sensitivity are adequate enough for a routine screening procedure. DESIGN: From 1998, a 2-year regional pilot screening for CAH was performed. In 1998, cutoff levels for 17OHP were primarily based on birth weight, and in 1999 on gestational age. In addition, nationwide, all newly diagnosed patients with CAH were reported to the Dutch Pediatric Surveillance Unit to compare screened CAH patients with CAH patients in the area without screening. RESULTS: In 2 years, 176 684 newborns were screened and 15 CAH patients (7 males/8 females) were detected. Therapy was started at the median age of 7 days. In the area without screening, 223 307 infants were born and 19 CAH patients (10 males/9 females) were reported to the Dutch Pediatric Surveillance Unit. Therapy was started at the median age of 14 days. The mean (standard deviation) serum sodium concentration was 134.5 (3.4) mmol/L in the area of screening versus 124.5 (10.8) mmol/L in the area without screening. The overall prevalence was 1:11 764. In 1998 and 1999, the specificity was 99.76% and 99.97%, respectively. The positive predictive value was 4.5% and 16%, respectively. To date, no false-negative cases have been detected. CONCLUSION: Severe salt wasting can be prevented by neonatal screening. The prevalence, specificity, and sensitivity allowed addition of screening for CAH to the routinely performed national neonatal screening program.

Adrenal Hyperplasia, Congenital↗

PubMed2002

Congenital toxoplasmosis in the United Kingdom: to screen or not to screen?

The United Kingdom National Screening Committee recently reviewed the evidence for prenatal and neonatal screening for toxoplasma infection and concluded that there was insufficient evidence to recommend screening in the United Kingdom. This issue will need to be revisited as new information or treatments become available. In this paper, the extent to which the research evidence on toxoplasma infection meets the criteria that need to be fulfilled for the introduction of screening in the United Kingdom is reviewed.

Female↗

PubMed1988

[Hearing screening in neonates and infants using brain stem evoked acoustic potentials].

Reported failure rates of screening using the conventional brainstem auditory response (BAER), audiometry range from 5% to 60% with about 30% of the babies having normal hearing sensitivity on follow-up. The results of testing by an automated infant screener using advanced evoked response technology are compared with those of a conventional evoked response system operated by skilled personnel. 50 newborn were tested at a gestational age of 40-42 weeks. Normal results were obtained in all 25 newborn (50 ears) of the control group using both testing procedures. Out of 25 newborn (50 ears) at risk for congenital perinatal or postnatal hearing disorder, abnormal results for either screening or conventional BAER recording were seen in 6 ears with both methods.

Audiometry, Evoked Response↗

PubMed2004

[Sickle cell disease in the neonatal period].

The prognosis of pregnancy in women with major sickle cell syndromes has improved greatly in recent years. Correction of maternal anemia with programmed transfusion has been a major advance. Rates of preterm birth and intra-uterine growth retardation nevertheless remain high in this population. A newborn affected with sickle cell disease does not develop complications of the disease, because the predominant fetal hemoglobin cannot co-polymerize with sickle hemoglobin. The rate of complications increases as the infant's hemoglobin synthesis switches from fetal to sickle hemoglobin. Neonatal screening of sickle cell disease patients enables early implementation of a comprehensive prevention program (daily antibiotic prophylaxy, immunization, parental education.). A neonatal screening program, targeted with regard to the parents' ethnic background, has been implemented throughout metropolitan France since 1999. In 2002, this program enabled early diagnosis of sickle cell disease in 313 newborns.

Anemia, Sickle Cell↗

PubMed2005

Changing patterns of thalassemia worldwide.

Thalassemia is a growing global public health problem with an estimated 900,000 births of clinically significant thalassemia disorders expected to occur in the next 20 years. This growth will occur in disorders previously uncommon in many parts of the world. In particular, hemoglobin (Hb) E-beta-thalassemia and Hb H disease account for much of the projected increases in thalassemia. Worldwide, Hb E-beta-thalassemia is one of the most frequent hemoglobinopathies. The incidence of Hb E approaches 60% of the populations in many regions of Southeast Asia. In coastal regions of North America, its prevalence is rapidly growing. The severity of Hb E-beta-thalassemia ranges from a complete lack of symptoms to transfusion dependence. alpha-Thalassemia diseases, often considered benign, are now recognized to be more severe than originally reported. Hb H, Hb H-Constant Spring (CS), and homozygous alpha-thalassemia affect at least a million people worldwide. California considers Hb H disease a public health problem and has initiated a neonatal screening program for Hb H and particularly Hb H-CS. Homozygous alpha-thalassemia, usually fatal, is also being more commonly detected. Several regions have initiated universal prenatal screening programs to address homozygous alpha-thalassemia. In summary, the prognosis for thalassemia disorders is improving, but prenatal diagnosis and neonatal screenings are needed. Comprehensive services that address language and social barriers as well as access to Hb F-enhancing agents and transfusions are needed.

Adolescent↗

PubMed2005

[Neonatal hearing screening during the first and second day of life].

AIM: Congenital or acquired hearing loss in infanthood has been associated with lifelong deficits in speech and language acquisition, poor school performances and emotional and social maladjustments. The identification of hearing loss through neonatal and infant life can prevent or reduce many of these adverse consequences, permitting early intervention. METHODS: We performed the screening of hearing loss with a technical device, echo-screen Madsen, based on transient evoked otoacoustic emissions (TEOAE). The screening was carried out in 50 newborns during the 1st day of life and in 80 newborns during the 2nd day of life. RESULTS: The 2nd day of life showed a significant better stability of the test and a better symmetry (P<0.001), and less incidence of artefacts (P<0.001). CONCLUSIONS: The results obtained confirm that the 2nd day of life is the most appropriate time for the neonatal hearing assessment with TEOAE.

Acoustic Stimulation↗

PubMed2003

Screening and prevention of congenital toxoplasmosis: an effectiveness study in a population with a high infection rate.

OBJECTIVES: Secondary prevention of congenital toxoplasmosis has been attempted by screening pregnant women or by screening neonates. We compared the results of these two approaches, in order to evaluate the effectiveness of these strategies and of the antibiotic treatment of infected women. METHODS: A prenatal serological screening program for toxoplasmosis enrolled 8061 pregnant women; 9730 neonates were screened during the same period. RESULTS: Out of 5288 susceptible pregnancies, 188 were identified as infected by Toxoplasma gondii (35/1000). The transmission rate was 11.3%, with a higher rate for neonates exposed in the last trimester (relative risk 10.6); four neonates were affected. Out of 9730 screened neonates, four tested positive (0.4/1000) and one was affected. Out of a total of 163 exposed neonates, 12 were clinically affected. The rate of clinical sequelae was 31.6% among those infected and 7.4% among all exposed to infection; neonates born of women who had not been treated were more likely to be affected than treated neonates (odds ratio 4), but after adjustment for trimester of infection no significant association was found. CONCLUSIONS: Neonatal screening for toxoplasmosis seems to be less effective than pregnancy screening. Observational data do not support the effectiveness of treatment during pregnancy to prevent clinical disorders.

Animals↗

PubMedDate not supplied

[Two cases of familial thyroxine-binding globulin (TBG) deficit identified by the screening of neonatal hypothyroidism (author's transl)].

Thyroxine-binding globulin deficiency is a well-known condition transmitted as a X-linked dominant trait or as autosomal dominant trait. This condition is benign and hypothyroidism is never associated. Values of T4 in the serum are abnormally low, TSH values are normal, RT3U values are high. TBG deficiency probably are much more diffuse than we believed in past. Therefore it's possible to detect this deficit through screening programs for neonatal hypothyroidism. In this paper we describe two cases of TBG deficit. Thyroid function and TBG levels in babies and in their families are studied. In our sample of three years the incidence is I:3170 newborns, The presumable inheritance pattern are both X-linked dominant and autosomal dominant. Neither in affected babies nor in their relatives thyroid function is abnormal.

Female↗

PubMed1987

Sepsis screen in neonates with evaluation of plasma fibronectin.

Two hundred twenty neonates with suspected early onset sepsis were prospectively studied to evaluate the ability of a sepsis screen to discriminate infected from noninfected newborn infants. A positive sepsis screen consisted of positive findings in two or more of the following tests: total white blood cell count; immature/total neutrophil ratio; C-reactive protein; micro-erythrocyte sedimentation rate; or plasma fibronectin. For proved sepsis a four-part screen excluding fibronectin yielded a sensitivity of 100%, specificity of 83%, positive predictive value of 27% and negative predictive value of 100%. In contrast the sensitivity of white blood cell count and immature/total neutrophil ratio was only 46%. Adding fibronectin to the four-part screen provided equal sensitivity and negative predictive value but decreased specificity and positive predictive value. While plasma fibronectin may play an important role in the pathogenesis of neonatal sepsis, it is not useful as a marker for infection. The screens did not identify preterm infants with late onset nosocomial sepsis. Although clinical judgment should be the primary factor in the decision to institute antibiotic therapy, a simple four-part sepsis screen provides valuable presumptive information for excluding the diagnosis of early onset neonatal sepsis.

Bacterial Infections↗

PubMed1986

Thyroid screening of neonates without use of radioactivity: evaluation of time-resolved fluoroimmunoassay of thyrotropin.

We evaluated the usefulness, in routine newborn screening for congenital hypothyroidism, of a time-resolved fluoroimmunoassay kit (DELFIA Neonatal TSH) for the determination of thyrotropin (TSH) in dried blood spots. A total of 11 531 dried blood samples from newborns were tested in parallel in each of two Swiss screening laboratories, by RIA and DELFIA. Six cases of confirmed congenital hypothyroidism were detected during the study period. The rate of false-positive results, after single TSH determination in the DELFIA assay, was 0.16%. Correlation of RIA and DELFIA results for TSH was very good in both laboratories (0.959 and 0.97, respectively). The new method fulfills the criteria for precision and sensitivity of a screening assay. Screening results are usually available the day after the sample arrives in the laboratory, thus favoring early diagnosis and allowing treatment to begin by the seventh or eighth postnatal day.

Congenital Hypothyroidism↗

PubMed2004

Screening for neonatal endocrinopathies: rationale, methods and results.

The measurement of thyrotropin or thyroxine from dried blood spots collected from neonates allows diagnosis before clinical manifestations develop, and prevents mental deficiency from congenital hypothyroidism. However, severely hypothyroid newborns remain at risk of cognitive problems that may be avoided if they are treated within two weeks of birth, hence the importance of a quick turnaround time of the screening programme. This also applies to screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency based on the measurement of 17-hydroxy-progesterone from dried blood; this was primarily designed to prevent neonatal deaths from acute adrenal insufficiency. This goal can be achieved by a high degree of clinical awareness of the diagnosis, but this has only been reported in a few jurisdictions. Furthermore, biochemical screening allows earlier treatment. On the other hand, there are many false positives, mostly in premature infants, so screening for 21-hydroxylase deficiency has not been universally adopted.

Adrenal Hyperplasia, Congenital↗

PubMed2003

Epidemiology of hearing impairment at three Flemish Institutes for Deaf and Speech Defective Children.

A retrospective analysis of 190 records of hearing impaired children up to the age of 14, all educated at one of three Flemish Institutes for Deaf and Speech Defective Children in Belgium, was performed. Until 1999, the well-known behavioral test (Ewing test) was used in the Flemish national screening program for hearing losses. Because it presented a lot of disadvantages, it has been replaced by Automated Auditory Brainstem Responses (AABR), enabling the Flemish national neonatal screening program to commence. This study is an extension of the preliminary results of a recently performed retrospective analysis in one Flemish institute of the hearing loss of patients that were diagnosed in the pre-AABR era. The authors analyzed the following data: etiology, risk factors of congenital hearing impairment, the patient's history from the moment of the first suspicion to diagnosis and treatment. The median age of the children was 8.5 years (2-14 year). In 66.5% the parents and/or grandparents were the first to raise suspicion, this was at a median age of approximately 9 months. The diagnosis was often made late, at a median age of 15 months (0-88 months). The etiology was unknown in 32.6% of the cases. The only cast-iron certain diagnoses were pre- and perinatal infections, syndromal and genetic hearing loss, and acquired infections (meningitis and measles). No risk factors of hearing loss, as they are stated by the Joint Committee on Infant Hearing, were found in more than 50% of the cases. Audiometry was performed in all cases, often supplemented with Auditory Brainstem Responses and/or click-evoked otoacoustic emissions, while other diagnostic investigations (imaging, genetics, etc.) were only variably performed. Finally, the authors confirm the need for universal neonatal screening, which only recently started in Belgium, and suggest that a detailed protocol should be established to pursue a coherent diagnostic policy.

Adolescent↗

PubMed1980

[Screening for neonatal hypothyroidism by estimation of T4 (author's transl)].

Over a 21 month period simultaneous screening for phenylketonuria and hypothyroidism by estimation of T4 was undertaken in 139,730 newborns. TSH was estimated in those with lowest T4 values. 22 cases of primary hypothyroidism, 26 with TBG deficiency and 8 with transient hypothyroidism were detected. There were a relatively high number of false positive results which should in theory be close to 5% (because the cut off fevel for T4 was 1.6 S.D. below the mean). This was reduced at 3.3% on the second specimen using a screening protocol in which T4, TSH and TBG were all estimated. Clinical analysis of the results suggests that TSH is probably the method of choice for screening for hypothyroidism.

Congenital Hypothyroidism↗

PubMed1997

Acquisition of Pseudomonas aeruginosa in children with cystic fibrosis.

OBJECTIVE: This study was pursued as an extension of a randomized clinical investigation of neonatal screening for cystic fibrosis (CF). The project included assessment of respiratory secretion cultures for pathogens associated with CF. The objective was to determine whether patients diagnosed through neonatal screening and treated in early infancy were more likely to become colonized with Pseudomonas aeruginosa compared with those identified by standard diagnostic methods. METHODOLOGY: The design involved prospective cultures of respiratory secretions obtained generally by oropharyngeal swabs at least every 6 months and more often if clinically indicated. Patients were managed with a standardized evaluation and treatment protocol at the two Wisconsin certified CF centers; however, there were community and environmental variations associated with the follow-up period as described below. RESULTS: Overall, there were no differences in acquisition of respiratory pathogens between the screened and the control (standard diagnosis) groups. Evaluation of the data between and within the two centers, however, revealed significant differences with earlier acquisition of P aeruginosa in the center with the following distinguishing characteristics: urban location; following patients with the standard US approach in which newly diagnosed, young children were interspersed with older CF patients; and where there were more opportunities for social interactions with other CF patients. The differences were confined to the screened group followed in the urban center in which the median pseudomonas-free survival period was 52 weeks contrasted with 289 weeks in the other center. In addition, assessment of data for the entire CF populations followed at the two centers revealed that the urban center showed a significantly higher prevalence of P aeruginosa colonization in patients between the ages of 3 and 9 years. CONCLUSIONS: These results present questions and generate hypotheses on risk factors for acquisition of P aeruginosa in CF and suggest that clinic exposures and/or social interactions may predispose such patients to pseudomonas infections.

Cystic Fibrosis↗

PubMed1995

Failure of the urinary group B streptococcal antigen test as a screen for neonatal sepsis.

The accuracy of the urinary group B streptococcal antigen latex agglutination (LA) test for screening infants at risk of group B streptococcal (GBS) sepsis in the first 24 hours of life was prospectively studied in 236 infants for six months. Infection with GBS was defined by a positive blood culture while colonisation was defined by GBS cultured from any other site. The combination of infection and colonisation was used as the gold standard for the LA test. Although the LA test had a sensitivity of 90%, the specificity was only 70%, the positive predictive value 12% and the false positive rate 30%. The overall accuracy was only 71%. The LA test was unable to predict GBS sepsis in infants at risk of the disease. The false positive rate was unacceptably high and could not be potentially accounted for in 11 infants. However, a negative test was useful in excluding GBS disease.

Antigens, Bacterial↗