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Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland. Inclusion criteria required comprehensive baseline data and diagnosis outside of newborn screening. Only data prior to initiation of disease-modifying treatment were included. The median age at disease onset was 3.0 years, with a mean of 6.4 years. Significantly, 55% of patients experienced symptoms before the age of 36 months. 3% never learned to sit unaided, a further 13% never gained the ability to walk independently and 33% of ambulatory patients lost this ability during the course of the disease. 43% developed scoliosis, 6.3% required non-invasive ventilation and 1.1% required tube feeding. In conclusion, our study, in line with previous observations, highlights the substantial phenotypic heterogeneity in SMA. Importantly, this study provides novel insights: the median age of disease onset in patients with 4 SMN2 copies typically occurs before school age, and in half of the patients even before the age of three years. These findings support a proactive approach, particularly early treatment initiation, in this subset of SMA patients diagnosed pre-symptomatically. However, it is important to recognize that the register will not include asymptomatic individuals. [ABSTRACT FROM AUTHOR]

The objective of this study was to investigate the relevance of routine assessment of c.−259C>T in the Austrian newborn screening program. Homozygous and compound heterozygous mutations in the coding region of the human gene encoding gap junction protein GJB2 (Connexin 26) cause up to 50 % of neonatal autosomal recessive non-syndromic hearing impairment identified in Caucasian newborn screening programs. More recently, a null mutation in the GC box of the GJB2 basal promoter c.−259C>T has been described which causes hearing impairment by completely suppressing GJB2 promoter activity. We determined the occurrence of c.−259C>T in cases of non-syndromic hearing impairment lacking known pathogenic alterations in GJB2 ( n = 43), a non-syndromic hearing impaired patient group ( n = 15) bearing the heterozygous GJB2 mutations c.35delG, c.[79G>A];[341A>G] (p. [V27I];[E114G]), c.109G>A (p.V37I), c.154G>C (p.V52L), c.262G>T (p.A88S), c.269T>C (p.L90P) and c.551G>C (p.R184P) and in a normal hearing group lacking alterations in GJB2 ( n = 50). In the analyzed groups, no occurrence of c.−259C>T was found. The c.−259C>T mutation, previously described as −3438C>T, is not a common cause of non-syndromic hearing impairment alone or together with heterozygous pathogenic GJB2 mutations that are statistically overrepresented in non-syndromic hearing impaired patient groups. Screening of newborns for c.−259C>T is therefore unlikely to be commonly found in Austrian NSHI patients but could make a significant contribution to non-syndromic hearing impairment in other populations. [ABSTRACT FROM AUTHOR]

This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants who died suddenly between 7 days and 12 months of age and whose cause of death could not be identified. 17-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay and positive samples were subsequently genotyped. Three infants out of 242 may have had unrecognized CAH due to CYP21 (steroid 21-hydroxylase) gene defect. Their newborn 17-OHP levels and CYP21 genotypes were 706 nmol/l and del/conv//del/conv, 53 nmol/l and I2//I2, and 811 nmol/l and I2//Gln318stop, respectively. CAH due to CYP21 defect can lead to sudden unexpected death without prior symptoms typical for the condition. Hence, newborn screening would have prevented these deaths had it been available. In addition, we have shown that the I2 point mutation that is expected to lead to simple virilizing form may lead to a fatal outcome. [ABSTRACT FROM AUTHOR]

Background: Recent studies showed the benefit or even need of hearing aids or cochlear implants in children with unilateral hearing loss to improve localization abilities and speech intelligibility. Therefore, the Audiology working group of the Austrian ENT society adopted the SAV-concept in 2017 (Screening Abklärung Versorgung von konnatalen Hörstörungen - Konzeptpapier 2017 AG Audiologie) to establish methods for testing, the mode of testing both ears, the desired schedule for the screening process and the subsequent therapy., Methods: The screening data were collected via questionnaires sent to all maternity and neonatal wards in different districts by responsible persons of the Austrian ENT society. Data on the implementation of the SAV concept were evaluated retrospectively based on the responses for the regions of Lower Austria and Burgenland., Results: The feedback, the implementation and responsibility for the screening program in respect of method and schedule differs throughout the federal states of Austria as well as in hospitals of state health organizations., Conclusion: Austria in comparison to other European countries is missing a central documentation and tracking system via a governmental screening coordination office as the data are not generally transferred to a common birth register. Therefore, different timetables and organization for the universal new born hearing screening in the federal states as well as in state organizations were found causing a delayed diagnosis and treatment of children with unilateral hearing loss., (© 2021. Springer-Verlag GmbH Austria, ein Teil von Springer Nature.)

Neonatal screening for congenital primary hypothyroidism (CH) may not distinguish between transient (TCH) and permanent dysfunction (PCH), causing potential overtreatment and concerns in affected families. To specify the indication for interruption of therapy, we analysed the German registry "HypoDok" for infants with CH, which oversees 1625 patients from 49 participating centres in Germany and Austria from 1997 until today. A total of 357 patients with a thyroid gland in loco typico were identified and retrospectively grouped according to cessation (TCH, n = 24) or continuation (PCH, n = 333) of L-thyroxine (L-T 4 ) treatment at 2 years of age. The receiver operating characteristic (ROC) analysis was performed to identify cutoffs predicting TCH by screening TSH concentrations and L-T 4 dosages. Gestational ages, birth weights and prevalence of associated malformations were comparable in both groups. The cutoff screening TSH concentration was 73 mU/L. The cutoff daily L-T 4 dosage at 1 year was 3.1 μg/kg (90% sensitivity, 63% specificity; 36 μg/day) and at 2 years of age 2.95 μg/kg (91% sensitivity, 59% specificity; 40 μg/day). At 2 years of age, specificity (71%) increased when both of these parameters were considered together.Conclusion: The decision to continue or cease L-T 4 treatment at 2 years of age in CH patients diagnosed in neonatal screening may be based on their screening TSH concentrations and individual L-T 4 dosages at 1 and 2 years of age. Thus, TCH and PCH may be distinguished; overtreatment avoided; and affected families reassured. What is Known: • The course of congenital primary hypothyroidism may be transient, causing potential overtreatment. • The dose of l-thyroxine at 1 or 2 years of age may predict a transient course of primary congenital hypothyroidism. What is New: • TSH screening concentration and l-thyroxine dosages at 1 and 2 years of age represent reliable predictors for transient congenital primary hypothyroidism with higher sensitivity and specificity when considered together in order to select eligible patients who qualify for treatment withdrawal., (© 2021. The Author(s).)

Background: High rates of lost to follow-up (LTFU) adult patients are a major concern in the long-term management of phenylketonuria (PKU). To address this issue, we designed the project "Backtoclinic" with the purpose of identifying LTFU adult PKU patients in Austria as a first step to reestablish appropriate treatment., Subjects and Methods: Individuals born between 1966 and 1999 and diagnosed with PKU through the National Austrian Newborn Screening Program (NANSP) were identified using the NANSP's database. Follow-up data were collected in the Austrian metabolic centers (Medical University of Vienna, Graz, Innsbruck and Salzburg). Patients with no contact to any of these centers within the previous two years were classified as LTFU. Epidemiological characteristics of the whole study population as well as of LTFU- and currently in follow-up patients were analyzed., Results: Between 1966 and 1999, 281 individuals were diagnosed with PKU through the NANSP. Two patients died in their first year of life and were excluded from the analysis. Of the remaining 279 patients (mean age ± SD: 36.7 ± 9.1 y, 42.7% females), 177 (63.4%) are currently LTFU. The rate of LTFU patients is higher in men than in women (68.1% vs 57.5%), and markedly increases with age in both sexes. The gender gap is greatest in young adults (52.6% vs. 25.0% in the age range 20.0-24.9 y) and declines with age (94.4% vs. 80.0% in the age range > 45.0 y)., Conclusions: We found an alarming rate of 63.4% of LTFU adult PKU patients in Austria, and observed a gender gap in the PKU state of care. Our findings illustrate the urgent need for the metabolic community to identify LTFU adult PKU patients and to develop strategies to reestablish appropriate treatment for men and women with PKU., Competing Interests: Declaration of Competing Interest All authors declare no conflict of interest., (Copyright © 2021. Published by Elsevier Inc.)

In Austria, newborns have been screened for cystic fibrosis (CF) by analyzing immunoreactive trypsinogen (IRT) from dried blood spots (DBS)s for nearly 20 years. Recently, pancreatitis-associated protein (PAP) analysis was introduced as a second-tier test with the aim of reducing recalls for second DBS cards while keeping sensitivity high. For 28 months, when IRT was elevated (65–130 ng/mL), PAP was measured from the first DBS (n = 198,927) with a two-step cut-off applied. For the last 12 months of the observation period (n = 85,421), an additional IRT×PAP cut-off was introduced. If PAP or IRT×PAP were above cut-off, a second card was analyzed for IRT and in case of elevated values identified as screen-positive. Above 130 ng/mL IRT in the first DBS, newborns were classified as screen-positive. IRT analysis of first DBS resulted in 1961 (1%) tests for PAP. In the first 16 months, 26 of 93 screen-positive were confirmed to have CF. Two false-negatives have been reported (sensitivity = 92.8%). Importantly, less than 30% of families compared to the previous IRT-IRT screening scheme had to be contacted causing distress. Adding IRT×PAP caused a marginally increased number of second cards and sweat tests to be requested during this period (15 and 3, respectively) compared to the initial IRT-PAP scheme. One case of confirmed CF was found due to IRT×PAP, demonstrating an increase in sensitivity. Thus, the relatively simple and economical algorithm presented here performs effectively and may be a useful model for inclusion of CF into NBS panels or modification of existing schemes. [ABSTRACT FROM AUTHOR]

Expectations and requirements concerning the identification and surveillance of healthcare-associated infections (HAIs) are increasing, calling for differentiated automated approaches. In an attempt to bridge the "definition swamp" of these infections and serve the needs of different users, we improved the monitoring of nosocomial infections (MONI) software to create better surveillance reports according to consented national and international definitions, as well as produce infection overviews on complex clinical matters including alerts for the clinician's ward and bedside work. MONI contains and processes surveillance definitions for intensive-care-unit-acquired infections from the European Centre for Disease Prevention and Control, Sweden, as well as the Centers for Disease Control and Prevention, USA. The latest release of MONI also includes KISS criteria of the German National Reference Center for Surveillance of Nosocomial Infections. In addition to these "classic" surveillance criteria, clinical alert criteria--which are similar but not identical to the surveillance criteria--were established together with intensivists. This is an important step to support both infection control and clinical personnel; and--last but not least--to foster co-evolution of the two groups of definitions: surveillance and alerts.

Background: The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis, and technical advances. We tested for Gaucher's disease, Pompe's disease, Fabry's disease, and Niemann-Pick disease types A and B in an anonymous prospective nationwide screening study that included genetic mutation analysis to assess the practicality and appropriateness of including these disorders in neonatal screening panels., Methods: Specimens from dried blood spots of 34,736 newborn babies were collected consecutively from January, 2010 to July, 2010, as part of the national routine Austrian newborn screening programme. Anonymised samples were analysed for enzyme activities of acid β-glucocerebrosidase, α-galactosidase, α-glucosidase, and acid sphingomyelinase by electrospray ionisation tandem mass spectrometry. Genetic mutation analyses were done in samples with suspected enzyme deficiency., Findings: All 34,736 samples were analysed successfully by the multiplex screening assay. Low enzyme activities were detected in 38 babies. Mutation analysis confirmed lysosomal storage disorders in 15 of them. The most frequent mutations were found for Fabry's disease (1 per 3859 births), followed by Pompe's disease (1 per 8684), and Gaucher's disease (1 per 17,368). The positive predictive values were 32% (95% CI 16-52), 80% (28-99), and 50% (7-93), respectively. Mutational analysis detected predominantly missense mutations associated with a late-onset phenotype., Interpretation: The combined overall proportion of infants carrying a mutation for lysosomal storage disorders was higher than expected. Neonatal screening for lysosomal storage disorders is likely to raise challenges for primary health-care providers. Furthermore, the high frequency of late-onset mutations makes lysosomal storage disorders a broad health problem beyond childhood., Funding: Austrian Ministry of Health, Family, and Women., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Twenty-three patients with late onset argininosuccinate lyase deficiency (ASLD) were identified during a 27-year period of newborn screening in Austria (1:95,600, 95% CI=1:68,036-1:162,531). One additional patient was identified outside the newborn screening with neonatal hyperammonemia. Long-term outcome data were available in 17 patients (median age 13 years) ascertained by newborn screening. Patients were treated with protein restricted diet and oral arginine supplementation during infancy and childhood. IQ was average/above average in 11 (65%), low average in 5 (29%), and in the mild intellectual disability range in 1 (6%) patients. Four patients had an abnormal EEG without evidence of clinical seizures and three had abnormal liver function tests and/or evidence of hepatic steatosis. Plasma citrulline levels were elevated in four patients. Plasma ammonia levels were within normal range prior and after a protein load in all patients. Seven different mutations were identified in the 16 alleles investigated. Four mutations were novel (p.E189G, p.R168C, p.R126P, and p.D423H). All mutations were associated with low argininosuccinate lyase activities (0-15%) in red blood cells. Newborn screening might be beneficial in the prevention of chronic neurologic and intellectual sequelae in late onset ASLD, but a proportion of benign variants might have contributed to the overall favorable outcome as well., ((c) 2010 Elsevier Inc. All rights reserved.)

Objectives: With more children receiving cochlear implants during infancy, there is a need for validated assessments of pre-verbal and early verbal auditory skills. The LittlEARS Auditory Questionnaire is presented here as the first module of the LittlEARS test battery. The LittlEARS Auditory Questionnaire was developed and piloted to assess the auditory behaviour of normal hearing children and hearing impaired children who receive a cochlear implant or hearing aid prior to 24 months of age. This paper presents results from two studies: one validating the LittlEARS Auditory Questionnaire on children with normal hearing who are German speaking and a second validating the norm curves found after adaptation and administration of the questionnaire to children with normal hearing in 15 different languages., Methods: Scores from a group of 218 German and Austrian children with normal hearing between 5 days and 24 months of age were used to create a norm curve. The questionnaire was adapted from the German original into English and then 15 other languages to date. Regression curves were found based on parental responses from 3309 normal hearing infants and toddlers. Curves for each language were compared to the original German validation curve., Results: The results of the first study were a norm curve which reflects the age-dependence of auditory behaviour, reliability and homogeneity as a measure of auditory behaviour, and calculations of expected and critical values as a function of age. Results of the second study show that the regression curves found for all the adapted languages are essentially equal to the German norm curve, as no statistically significant differences were found., Conclusions: The LittlEARS Auditory Questionnaire is a valid, language-independent tool for assessing the early auditory behaviour of infants and toddlers with normal hearing. The results of this study suggest that the LittlEARS Auditory Questionnaire could also be very useful for documenting children's progress with their current amplification, providing evidence of the need for implantation, or highlighting the need for follow-up in other developmental areas.

Objectives: The aim of the present study was to evaluate gap junction protein beta2 (GJB2) genetic testing within a national neonate screening program for hearing loss (HL) in a European population., Design: Neonatal cases of nonsyndromic HL (N = 21) were identified by postpartal otoacoustic emissions (OAE) and brain stem electric response audiometry (BERA) analysis. GJB2 testing was performed by direct sequencing., Results: Mutations in GJB2 were found in 15 of 21 children (71.4%) identified by neonatal audiological screening. The 35delG mutation in GJB2 was found homozygous in 10 cases (47.6%) and also as a clear cause of HL as the heterozygous alterations 35delG/del311-324 and 35delG/L90P. In a single case, L90P/R143Q was also identified as a cause of HL. In 3 HL cases that were not identifiable during initial OAE testing, homozygous 35delG and 35delG/R184P defined the genetic basis for HL in 2 cases, whereas one case had wild-type GJB2., Conclusions: Our findings of the high mutation rate in the Austrian population, especially in neonates identified during the newborn screening program, confirm the importance of screening for mutations in GJB2.

Newborn screening for galactosemia yields a high number of false-positive results. Confirmatory DNA testing for unknown galactosemia mutations on the initial positive sample using novel techniques of mutation detection tenders itself to reduce the recall rate. The potential benefits of confirmatory DNA testing, however, could be offset by the detection of a high percentage of galactosemia carriers, Duarte/galactosemia compound heterozygotes, and infants with benign sequence changes in the galactose-1-phosphate uridyltransferase (GALT) gene among infants with a positive biochemical screening test. Our aim was to determine the frequency and allelic distribution of all sequence changes in the GALT gene in 110 newborns with a positive total galactose screening test among 43,688 Austrian newborns screened consecutively. We found that only 20 of the 110 probands carried at least one known or novel candidate galactosemia mutation (one galactosemia homozygote, 7 Duarte/galactosemia compounds, 12 carriers) as judged by denaturing gradient gel electrophoresis and cleavage fragment length polymorphism analysis. Four novel galactosemia candidate mutations (Q9H, A46fsdelCAGCT, M129T, L342I) were identified. Sixty-seven probands had no detectable sequence changes and 23 carried only the benign Duarte or Los Angeles variant alleles or silent mutations. We conclude that a rapid and automatable confirmation test for unknown GALT mutations, e.g. on a high-density oligonucleotide array basis, has the potential to lower the recall rate of galactosemia screening in our population by about five-fold from 0.25 to 0.046%. Further research, however, will be required before the development of such a test can be advocated.

The routine examination of healthy term newborn infants on the postnatal ward has at least three goals: diagnosis of a primarily inapparent, yet severe disorder (e.g. acyanotic malformation of the heart), detection of minor, benign abnormalities (e.g. deformed feet) and minor birth lesions (e.g. cephalhematoma, clavicular fracture). Since such findings may cause concern, they are discussed with the parents. Many minor problems such as postural deformities are self limited or can be managed by the mother. A severe disease is detected only rarely. Certain findings should give rise to special investigations (e.g. preauricular tags--urinary tract malformation, hearing impairment).

Unlabelled: Newborn screening for biotinidase deficiency (BD) provides prevention of neurological sequelae in patients with low residual enzyme activity by early treatment with oral biotin substitution. Screening 1.1 million newborns in Austria and consecutive family studies led to the identification of 21 patients with profound BD (residual activity <10%) (incidence: 1:59,800) and to 12 patients with partial BD (residual activity 10%-30%) (incidence 1:89,700). Application of an HPLC assay using the natural substrate biocytin allowed exact quantification of extremely low residual biotinidase activities and thus subdivision of patients with profound BD into a group with a residual activity 0%-1% of normal activity (n = 5) and >1%-<10% (n = 16) respectively. Evaluation of clinical and neuropsychological outcome showed that only patients with a biotinidase activity < 1% (n = 3/5) exhibited characteristic clinical symptoms within the first weeks of life, while five patients with a residual activity of 1.2%-4.6% did not develop clinical symptoms even when not treated until 3.5 21 years. In all patients with residual activity <10% and biotin substitution within the first weeks of life, neuropsychological outcome was normal, while abnormal in three out of five patients tested for IQ and treated after the age of 3.5 years. In five out of nine patients with poor compliance or delayed or no treatment, visual and brainstem auditory evoked potentials were measured and were within age-related normal values. All patients with partial BD available for follow-up remained clinically and neuropsychologically asymptomatic without treatment at ages 2.5 10 years., Conclusion: The incidence of biotinidase deficiency in Austria is comparable to other European countries. Subdivision of the group of patients with profound biotinidase deficiency suggests that only patients with residual activities < 1% are prone to develop clinical symptoms early in life, while patients with residual activities >1% may remain asymptomatic even without treatment, as do patients with partial deficiency. Moderate mental retardation might represent a possible manifestation of cerebral dysfunction in patients with profound biotinidase deficiency.

In order to improve early detection of congenital permanent childhood hearing impairment the Austrian ENT society recommended in 1995 that universal neonatal hearing screening be introduced ("Millstätter Concept"). Coverage is presently about 67% for full-term healthy neonates and 86% for neonates from intensive care units. For maternity units, referral rates between 1% and 3.7% have been reported (2.7-15% for intensive care units). The results of the screening test and follow-up in cases of failure have been documented in 37,543 neonates. Of this population, 91 infants (2.4 per 1000) showed bilateral permanent hearing loss. In these children intervention and management of the family started within the first months of life. These results justify the effort involved in introducing universal neonatal hearing screening.

Although cytomegalovirus infection is the most common infection transmitted via the placenta, there are no guidelines for routine screening to detect children congenitally infected with cytomegalovirus. From 1993 to 1997, maternal serum and cord vein blood of newborns was screened for HCMV-IgM (n = 21,183). Urine was examined for HCMV-excretion during the first postnatal week to prove HCMV infection in children who expressed HCMV-IgM in cord vein blood (n = 13) or who were born to mothers positive for HCMV-IgM in the serum (n = 234), or when both cord vein blood and maternal serum were positive for HCMV-IgM (n = 6). Congenital HCMV infection was detected in 17 newborns. To determine the incidence of congenital HCMV infection, only those mother/child pairs were selected in whom serum and cord vein blood were investigated (n = 5967 mother/child pairs). In this group 13 newborns were infected. The observed incidence for congenital HCMV infection is 0.21%. It is concluded that that this screening programme will detect those children at risk for congenital HCMV infection. These children have to be examined for virus excretion in the urine. Although the observed incidence is only 0.21%, congenital HCMV infection is a problem that can no longer be neglected because of its long-term sequelae.

In Austria, neonatal screening for congenital hypothyreosis has been introduced since 1976 as a part of the national screening program for inborn errors of metabolism. Capillary blood spots are collected on filter paper from all newborns on day 3 to 5 and are subsequently investigated with a delayed fluorescence-immunoassay (DELFIA) for the determination of TSH. Since 1992 we have detected 105 patients with congenital hypothyreosis among 365,120 newborns. The recall rate of the primary TSH screening is about 0.35%. Only primary (thyroidal) hypothyreosis, but not secondary and tertiary (pituitary and hypothalamic) types of hypothyreosis are detected by the primary TSH newborn screening. As TSH is physiologically high during the first 2 days of life, the trend to early hospital discharge will result in a significant increase of the recall rate in future.

The incidence of Duchenne muscular dystrophy (DMD) in Eastern Austria was investigated. From 1968-1983 302,643 boys were born, 68 of whom were subsequently identified as having Duchenne muscular dystrophy. The overall incidence with respect to live male births is 1:4451 (22.5 x 10(-5)). The mean age of the children at the occurrence of the first symptoms was 3.1 (SD 1.1), at first presentation to a physician 4.8 (SD 2.0), and at diagnosis 5.5 (SD 1.7) years. DMD occurred in 56 families. These families had 73 boys with DMD, 5 of whom were born before or after the observation period. Thirteen families had two affected boys and two families even had three. In 4 families a second boy suffering from DMD was born although the diagnosis of DMD had already been established in another close male relative. If a newborn male screening system had been in function, 13 cases could possibly have been avoided. However, since in 3 cases the affected siblings were not both born within the observation period, they were excluded, leaving 10 cases. Hence, a prevention rate of 14.7% might have been achieved through creatine kinase (CK) screening and genetic counselling.

Up to now 49,116 immunoreactive trypsin (IRT) measurements have been carried out in Austrian newborns in the first week of life. Related to provisionally chosen cut-off points, 301 newborns (0.61%) showed an elevated IRT value; 253 of them were successfully recalled. According to a direct strategy, sweat tests were done without a second IRT measurement in 101 infants; eleven of them were identified as cystic fibrosis (CF) patients. In accordance with a 2-step strategy, 152 infants were reinvestigated by a second IRT determination. Twenty-eight of them again showed an elevated IRT value, as based on provisional, age-dependent reference values; seven were subsequently identified as CF patients by sweat testing. So far two false-negative findings were obtained on IRT screening: one child was later identified as having CF on the basis of typical clinical symptoms and a positive sweat test, the other patient presenting with meconium ileus showed a normal IRT value after surgery, but was subjected to a sweat test in view of the underlying condition. These preliminary results suggest a CF incidence of 1 to 2460 newborns in Austria. Hence, IRT screening appears to be a reliable method for identifying CF patients in the newborn period, thereby facilitating early treatment and genetic counselling.

Galactosemia due to uridyl-transferase deficiency was detected in 47 patients between 1/1/1967 and 31/12/1988. The condition took a fulminant course in 31 patients and 10 infants in this group died between the 6th and the 18th day of life. The determination of uridyl-transferase in 36 patients confirmed the diagnosis. Exchange blood transfusion was undertaken in 25 infants because of hyperbilirubinemia, septicemia or neurological symptoms. 5 of the 31 children had a cataract. In most cases the lactose-free diet was commenced in the 2nd week of life. 27 patients were followed up with respect to somatic and intellectual development. Gonadal function was investigated in 5 patients; hypergonadotropic hypogonadism was found in the 4 girls.

From 1st January to 31st August 1989 2,248 healthy, mature infants were delivered at the Department of Obstetrics and Gynaecology in Graz, Austria. They were routinely examined on day 1 and before discharge from hospital on day 4. Attention was paid to the presence or absence of minor abnormalities such as skin lesions, eruptions or rashes, cephalhaematoma, tongue tie, undescended testis, increased physiological jaundice, heart murmurs, talipes calcaneo-valgus, hip click, fracture of the clavicle and other common abnormalities and limb deformities. 20.9% of the investigated babies had no such findings whatsoever. In 79.1% of the subjects with one or more abnormalities, minor lesions due to birth trauma dominated with 24.2%, followed by postural deformities of the lower extremities in 20.5% and hip clicks and/or asymmetric skin-folds in 12.9%. Dislocation of the hip, however, was found in only 17%. Elevated serum bilirubin levels were noted in 33.0%, and in many of the jaundiced infants bruising or haematoma due to birth trauma was evident. Traumatic lesions were much rarer in infants delivered by caesarean section than in infants born vaginally.