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PubMed1986

Neonatal screening for congenital adrenal hyperplasia: a programme based on a novel direct radioimmunoassay for 17-hydroxyprogesterone in blood spots.

We have assessed the feasibility of screening newborn babies for congenital adrenal hyperplasia (CAH) by the direct measurement of 17-hydroxyprogesterone (17-OHP) in blood spots collected on filter paper (Guthrie cards) for the phenylketonuria, hypothyroidism and galactosaemia screening programmes run in Scotland. The procedure described for CAH uses an iodinated 17-OHP tracer and a specific 17-OHP antiserum sheathed within semipermeable nylon microcapsules. The method does not require a solvent extraction step, is inexpensive, precise, efficient and, therefore, practical for large-scale use. With this system the value of a neonatal screening programme was assessed in a retrospective analysis and a prospective trial. The retrospective study of 15 paediatric cases of CAH illustrated that at least half were not diagnosed within 3 weeks of birth. Analysis of the original Guthrie card samples revealed increased levels of 17-OHP in all cases. The prevalence of CAH as calculated in the retrospective study was 1 in 20 907 with a range (within 95% confidence limits) of from 1 in 12 675 to 1 in 32 604 (n = 301 450). In the prospective trial a total of 92 051 consecutive samples was screened. Five cases of CAH were correctly identified with a current false positive rate of 0.042%. Analysis of urinary steroids confirmed defective adrenal 21-hydroxylase activity in all positive cases. In the prospective trial the prevalence was 1 in 18 401 with a range of from 1 in 7422 to 1 in 50 006. We conclude that mass screening for CAH is both feasible and desirable.

Adrenal Hyperplasia, Congenital↗
PubMed1996

Hb Uxbridge [beta 20 (B2)Val-->Gly]: a new variant with mild increase in oxygen affinity found during a neonatal screening program.

Hb Uxbridge [beta 20(B2)Val-->Gly] was found in an English family during a neonatal hemoglobinopathy screening program. In both the child and the parent carrying this hemoglobin variant, the red cell parameters were normal. By isoelectrofocusing Hb Uxbridge appeared to have an isoelectric point slightly higher than Hb A but was silent on cellulose acetate and acid gel electrophoresis. Structural modifications affecting position beta 20(B2) have been demonstrated to be responsible for a high oxygen affinity and polycythemia in Hb Olympia (Val-->Met) and Hb Trölhattan (Val-->Glu). In the case of Hb Uxbridge, despite an alteration of the same site, the oxygen binding parameters of the patient's hemolysate showed only a mild (ca. 20%) increase in oxygen affinity.

Female↗
PubMed1976

Neonatal screening for hyperlipoproteinemia. Methods for direct estimation of cord serum VLDL + LDL.

The early detection of hyperlipoproteinemia in newborn infants has so far been based upon estimation of cord blood total lipids (cholesterol and triglyceride) and lipoprotein-lipids (VLDL-, LDL- and HDL-cholesterol). To be able to make a direct estimation of cord serum beta-lipoproteins (VLDL + LDL) two quite different methods were modified, one immunological and the other turbidimetric. Good correlations were found to VLDL- + LDL-cholesterol isolated in the ultracentrifuge (r = 0.848 and 0.831, respectively). If neonatal screening for hyperlipoproteinemia is considered, we recommend the very easy and inexpensive turbidimetric method. Furthermore, using cord serum, two conventional precipitation methods with heparin-CaCl2 and heparin-MnCl2 were compared by ultracentrifugation and high correlations were found (r = 0.923 and 0.899, respectively). A clamping study showed that following early clamping of the cord, the concentration of cord serum lipids and lipoproteins did not change markedly within the first five minutes. Storing experiments showed that serum should be separated within the first 12 h to avoid unpredictable changes in the concentration of cord serum lipids and lipoproteins.

Animals↗
PubMed1990

Click evoked otoacoustic emissions in neonatal screening.

Seven hundred and twenty-three neonates under intensive care have been tested by evoked otoacoustic emissions (EOAE) and the auditory brain stem response (ABR) to investigate the use of EOAE as a test for hearing impairment. Three hundred and thirty-one have had follow-up tests to the age of at least 2 years. The EOAE test has been found to be practical and quick to perform. The proportion of NICU infants producing a recordable EOAE is 80%, and the sensitivity and selectivity to the ABR result in the period up to 3 months post due date is 93 and 84%, respectively. These figures are high enough and the reduction in time compared to ABR is sufficient for the EOAE to be considered as the primary screen. The follow-up data show mixed results with both false positives and false negatives present. The incidence of severe hearing impairment is close to that expected from retrospective studies at 2 in 331 (1 bilateral, 1 unilateral). Firm conclusions on the sensitivity of EOAE to long-term hearing impairment await the results from larger numbers of infants and further follow up data.

Audiometry, Evoked Response↗
PubMed1987

[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 3. An enzyme-linked immunosorbent assay for dried blood 17 alpha-hydroxyprogesterone].

An enzyme-linked immunosorbent assay (ELISA) for 17 alpha-hydroxyprogesterone (17-OHP) in dried blood collected on filter paper has been developed. The ELISA method is very easy and rapid and has sensitivity, accuracy and precision. The detection limit of the ELISA method is 0.5 ng/ml blood. Intra- and interassay coefficients of variation are 7.0 approximately 8.3% and 6.7 approximately 10.5%, respectively. Correlation between the ELISA method and previously reported enzyme immunoassay is good (r = 0.961). 17-OHP values of neonates with congenital adrenal hyperplasia (CAH) are extremely high compared with normal neonates (11.0 +/- 5.9 ng/ml blood). The present study demonstrates that the ELISA method for 17-OHP is applicable to neonatal screening for CAH.

17-alpha-Hydroxyprogesterone↗
PubMed1983

Neonatal screening for congenital adrenal hyperplasia.

Capillary blood samples from 42930 infants born in the Italian region of Emilia-Romagna were collected for 17-hydroxyprogesterone radioimmunoassays on days 2, 3, 4, 5, 6, and 7, or between days 7 and 15 of life. A microfilter paper method modified from that of Pang et al.1 was used for this assay. Pathologic values of 17-hydroxyprogesterone were found in 5 infants giving an incidence in this homogeneous Caucasian population of 1:8586. We also investigated 17-hydroxyprogesterone values in relation to the day of sampling and the possible correlation between 17-hydroxyprogesterone values and birthweight and gestational age. We concluded that neonatal screening for congenital adrenal hyperplasia caused by 21-hydroxylase deficiency was possible by this method and that the infants' maturity and the particular day of collection of the samples affect the values but not the validity of the screening.

17-alpha-Hydroxyprogesterone↗
PubMed1988

Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening.

18,000 newborn males were screened for Duchenne muscular dystrophy (DMD) by creatine kinase (CK) analysis of filter paper blood spots between Jan 1, 1986, and Dec 31, 1987. 5 affected boys have been identified, and in 3 of 5 probands molecular deletions or duplications have been found. 3 of 5 mothers were judged highly likely to be carriers of DMD because of repeatedly raised CK levels, identified gene rearrangements, or both abnormalities. 1 mother has a very low probability of being a carrier and 1 is at an intermediate risk. The use of DNA analyses in new DMD probands identified by neonatal screening has allowed confirmation of the diagnosis and accurate assignment of carrier status in mothers and female relatives in over half the cases studied, and may help to reduce the population incidence of DMD by avoiding delay before clinical diagnosis.

Creatine Kinase↗
PubMed1982

Neonatal screening for sickle haemoglobinopathies in Birmingham.

During 1978-81 there were about 43,500 births in Birmingham, of which 10.3% were to Negroes and 22.6% to Asians. Cellulose acetate electrophoresis of red cell haemolysates from capillary specimens collected for phenylketonuria screening was performed for these babies to assess the feasibility, cost, and benefits of detecting sickle haemoglobinopathies early. Eight babies had important haemoglobinopathies; four were homozygotes for haemoglobin S (HbS), three were mixed heterozygotes for HbS and haemoglobin C (HbC), and one had haemoglobin E (HbE) and beta-thalassemia. Also, 534 (1.19%) were heterozygotes for HbS or haemoglobin D (HbD) and 205 (0.46%) for HbC or HbE, 453 (1.01%) were heterozygotes with a fast-moving band, one was a heterozygote for haemoglobin Norfolk, and one a heterozygote for both HbS and haemoglobin G Philadelphia. The cost of neonatal screening for haemoglobinopathies was 12.5 p per baby (705 pounds for each serious abnormality).

Anemia, Sickle Cell↗
PubMed2005

Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening.

The aim of this work was to perform genetic analysis on 18 different blood-spot samples collected from neonates detected as hyperphenylalaninemic by Northeastern Italian screening program. DNA was extracted from blood-spots. Exons/introns of PAH gene were amplified by polymerase chain reaction (PCR), and PCR products were purified and sequenced with both forward and reverse primers. The most frequent mutations were IVS12nt1g>a (16.7%) and R408W, P281L and L48S (all together 11.1%). As expected, compound heterozygosity was the usual finding; homozygosity was found only in two patients with R158Q and IVS2nt5g>c mutations. The V230I mutation was reported for the first time in Italy. We found six previously described polymorphisms (V245V, IVS4nt47c>t, IVS2nt19t>c, IVS3nt-22c>t, IVS5nt-54a>g, and E280>Q280). To our knowledge, four genotypes were not previously described: R158Q/V230I present in one patient with classical PKU; and L48S/R408Q, A403V/IVS2nt-13t>g, and G272X/V230I present in patients showing HPA phenotype. Most of the mutations were located in the exons 12 and 7 and in exon/intron 2 (83.3% detection of total mutations in PKU or HPA patients of Northeastern Italy). From a practical viewpoint, the genetic analysis of blood-spots collected on Guthrie cards for neonatal screening for PKU could be a simple method to establish the genotype of neonates. Consequently, the genotype/phenotype correlation could lead to a more accurate diagnosis and prognosis for families.

Amino Acid Substitution↗
PubMed1978

Galactosaemia: case for neonatal screening illustrated by recent Australian experience.

The varied presentation and clinical features of classical galactosaemia are illustrated by the case histories of seven babies born in Western Australia since January, 1962, and of two babies born in South Australia in whom diagnosis was made as a result of adding galactosaemia to the Guthrie screening programme in October, 1974. All were shown to have a severe deficiency of galactose-1-phosphate uridyl transferase in their red blood cells. We compare our findings with those in 10 galactosaemic babies born in Victoria over a similar period, and show that in both groups these were two main modes of onset: acute and insidious. Jaundice and Escherichia coli infection were prominent in the 13 babies with an acute onset of galactosaemia, while poor weight gain, intermittent vomiting and cataracts were features of the five babies with an insidious onset. An enlarged liver was usually found in both groups. We discuss the various approaches to neonatal screening of galactosaemia in the light of experience in Massachusetts and South Australia. The use of cord blood can be expected to lead to diagnosis before babies with acute onset become ill, while the use of blood collected at five days for the Guthrie test avoids the collection of another routine sample for a relatively rare disorder. The result of red cell transferase assays of parents and siblings of our patients are discussed in relation to their implication for genetic counselling. The relevance of antenatal diagnosis to the prevention of possible intrauterine damage to an affected fetus is pointed out.

Australia↗
PubMed2006

Bile acid metabolism in extrahepatic biliary atresia: lithocholic acid in stored dried blood collected at neonatal screening.

Lithocholic acid (LCA) is a potent hepatotoxic compound. Fetal LCA may have a role in the pathogenesis of neonatal cholestasis/extrahepatic biliary atresia (EHBA). Fetal liver efficiently hydroxylates LCA in several positions. This may represent a detox-ification mechanism. In the present study LCA, cholic acid (CA) and chenodeoxycholic acid (CDCA) were quantitated by gas chromatography-mass spectrometry using selected ion monitoring in small amounts of stored dried blood from six newborn infants with EHBA and fourteen con-trols. The blood was collected at neonatal metabolic screening. Mean blood levels (+/- S.E.M.) of LCA were 0.11 +/- 0.04 microM in the in-fants with EHBA and 0.08 +/- 0.02 microM in the control infants. The correspon-ding levels for CA and CDCA were 15.6 +/- 3.6 microM and 7.4 +/- 2.5 microM in the infants with EHBA and 1.7 +/- 0.3 microM and 1.8 +/- 0.4 microM in the controls. The increased levels of CA and CDCA in the infants with liver disease can be explained by cholestasis. The low blood levels of LCA indicate a normal fetal metabolism of this bile acid in EHBA.

Biliary Atresia↗
PubMed1981

Four-year-old children with alpha 1-antitrypsin deficiency. Clinical follow-up and parental attitudes towards neonatal screening.

Two hundred thousand infants born in Sweden between November 1972 and September 1974 were screened at birth for alpha 1-antitrypsin (alpha 1 AT) deficiency. At age 4 years 172 of 183 children with alpha 1 AT deficiency were examined and compared with 80 randomly selected control children. The children with alpha 1 AT deficiency had the following Pi types: 118 PiZ, 50 PiSZ, 2 PiZ-, 1 PiS-, 1 PiFZ. Two PiZ children have severe liver cirrhosis and 1 PiZ boy had died of aplastic anemia. Abnormal levels of serum alanine aminotransferase (S-ALAT) were found in one PiSZ and 47 PiZ children. Upper and lower respiratory infections, otitis, eczema, urinary infections or complications of child diseases did not occur more often in children with alpha 1 AT deficiency than in controls. More parents of alpha 1 AT deficient children had stopped smoking and their fathers smoked significantly less. Forty parents of children with alpha AT deficiency PiZ answered a questionnaire concerning their reaction to, knowledge about and attitudes towards neonatal screening for alpha 1 AT deficiency. Many parents reported having reacted with lack of understanding, shock or depression upon learning that the child had alpha 1 AT deficiency. About 4 years later 44% reported still lack of understanding, and 18% depression or feelings of guilt. About two-thirds had not fully understood why alpha 1 AT deficiency had been identified, despite the fact that they had seen their doctor 3--4 times for check-ups and counselling since birth.

Alanine Transaminase↗
PubMed1987

Monoclonal antibody-based enzyme immunoassay for trypsinogen in neonatal screening for cystic fibrosis.

An enzyme immunoassay (EIA) with monoclonal antibodies against human trypsinogen in neonatal blood-spots has been evaluated for screening for neonatal cystic fibrosis (CF). In a retrospective study, 36 of 39 CF samples were distinguished from controls matched for age and storage time. 7 infants with CF were detected in 16,500 infants screened in a prospective study. The EIA is quicker and less labour intensive than conventional assays for the detection of immunoreactive trypsin and may have further advantages of specificity and sensitivity for monitoring the release of pancreatic zymogens in CF.

Antibodies, Monoclonal↗
PubMed2002

Comparison of two different protocols of neonatal screening for cystic fibrosis.

The results of two different protocols of neonatal cystic fibrosis (CF) screening in the Lazio region of Italy are reported. The first study, conducted from 1992 to 2000 on about 200,000 newborns, consisted of an immunoreactive trypsin (IRT) protocol without mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, referred to as the IRT/IRT protocol. Approximately 5% of the newborns with a positive first IRT test were also positive at the second test; approximately 57% of the newborns with a high IRT level at the second test were subsequently found to be affected by CF. In September 1998, a second protocol that included mutation analysis (IRT/DNA/IRT protocol) was started. Comparison of the two different screening protocols in terms of sensitivity in detecting CF patients demonstrated that the IRT/DNA/IRT protocol is more effective because it is able to detect a higher number of CF patients than the IRT/IRT protocol. In the same period, in addition to the overall diagnosis performed on a screening basis, 64 other subjects were identified as being affected by CF on the basis of symptomatic findings. The overall incidence of CF (screening + symptoms) was 1 : 2982, while that for carriers was 1 : 27. The sensitivity of the screening program increased over the period from 1992 to 2000, with the enhanced sensitivity in the past 2 years being due to the introduction of the IRT/DNA/IRT protocol.

Cystic Fibrosis↗