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PubMed2004

Prediction of ductus arteriosus closure by neonatal screening echocardiography.

AIMS: We reported the incidence, clinical manifestations and outcome of patent ductus arteriosus (PDA) in full-term infants by screening echocardiography. METHODS AND RESULTS: Total 1230 infants received echocardiographic screening and periodic follow-up. On the third day of life, there were 109 infants with isolated ductus arteriosus aneurysm (DAA), those with persistent patency of the ductus arteriosus (DA) in 26. The DA closed within 48 h in 828 infants, and persisted beyond 48 h in 180. The incidence of PDA in full-term infants was 0.91, 0.83 and 0.66% at 1, 4 and 6 months follow-up, and 0.82, 0.73 and 0.64% if infants with DAA were excluded. Infants with PDA had lower birth body weight (BBW) than those with closed DA (p = 0.02). The DA width on the third day of life ranged from 0.23 to 0.43 cm (0.32 +/- 0.08 cm) and 0.08 to 0.44 cm (0.16 +/- 0.06 cm) in infants with or without PDA, respectively, which was significantly different (p < 0.05). The sensitivity, specificity, predictive positive and negative values were 87.5, 92.5, 36.8 and 99% respectively for the cuff-off point at 0.25 cm of DA width. CONCLUSIONS: Risk factors in infants with PDA included lower BBW and larger measured DA width at the third day of life. We predicted the arterial duct would close if DA width <0.25 cm, and suggested follow up earlier if >0.25 cm on the third day of life.

Aneurysm↗

PubMed2004

Prediction of ductus arteriosus closure by neonatal screening echocardiography.

AIMS: We reported the incidence, clinical manifestations and outcome of patent ductus arteriosus (PDA) in full-term infants by screening echocardiography. METHODS AND RESULTS: Total 1230 infants received echocardiographic screening and periodic follow-up. On the third day of life, there were 109 infants with isolated ductus arteriosus aneurysm (DAA), those with persistent patency of the ductus arteriosus (DA) in 26. The DA closed within 48 h in 828 infants, and persisted beyond 48 h in 180. The incidence of PDA in full-term infants was 0.91, 0.83 and 0.66% at 1, 4 and 6 months follow-up, and 0.82, 0.73 and 0.64% if infants with DAA were excluded. Infants with PDA had lower birth body weight (BBW) than those with closed DA (p = 0.02). The DA width on the third day of life ranged from 0.23 to 0.43 cm (0.32+/-0.08 cm) and 0.08 to 0.44 cm (0.16+/-0.06 cm) in infants with or without PDA, respectively, which was significantly different (p < 0.05). The sensitivity, specificity, predictive positive and negative values were 87.5, 92.5, 36.8 and 99% respectively for the cuff-off point at 0.25 cm of DA width. CONCLUSIONS: Risk factors in infants with PDA included lower BBW and larger measured DA width at the third day of life. We predicted the arterial duct would close if DA width <0.25 cm, and suggested follow up earlier if >0.25 cm on the third day of life.

Cardiac Surgical Procedures↗

PubMedDate not supplied

[Ultrasound neonatal screening: the effect of anamnestic risk factors on hip dysplasia].

INTRODUCTION: Hereditary, pelvic respectively breech presentation or abdominal delivery, premature as well as post-term birth and twin pregnancy are considered to be anamnestic risk factors for congenital dysplasia of the hip. The results of ultrasound hip screening of two University hospitals are presented with special regard to the correlation of these risk factors and the occurrence of pathologic hips. PATIENTS/METHODS: 24 different physicians of the orthopaedic departments examined the hips of 6617 newborns (female: 3253--49.2%; male: 3364--50.8%) by ultrasound (screening). 94.6% of the examinations were performed within a period of 5 days after birth. The ultrasound examinations, the assessment of the echograms and classification into types of hip were performed according to Graf's technique. All investigations were assessed retrospectively over the period of time with the help of documentation forms (data of newborn baby, case history, clinical and sonographical findings, kind of therapy and procedure) and statistically checked (Chi-Quadrate-test). RESULTS: In 436 children (6.6%) we found hips required therapy respectively control investigations (type IIa, a < 55 degrees or worse; Graf's classification). For the entire group we achieved the following types of hips (right/left side): Ia--724 (10.9%)/645 (9.8%); Ib--3931 (59.4%)/3892 (58.8%); IIa (> or = 55 degrees)--1733 (26.2%)/1768 (26.7%); IIa (< 55 degrees)--143 (2.2%)/181 (2.7%); IIc--55 (0.8%)/77 (1.2%); D--20 (0.3%)/39 (0.6%); IIIa--9 (0.1%)/11 (0.2%); IIIb--1 (< 0.1%)/3 (0.1%); IV--1 (< 0.1%)/1 (< 0.1%). CONCLUSIONS: In newborn babies with cases of hip dysplasia in their family (heredity) and pelvic respectively breech presentation at birth, as well as for girls and the left side we found a significant higher rate (p < 0.05) of hips required therapy respectively control investigations (type IIa, alpha < 55 degrees or worse; Graf's classification). A correlation of the other mentioned risk factors premature respectively post-term birth, twin pregnancy and cases of abdominal delivery without breech presentation was not evident.

Female↗

PubMed2006

Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age.

CONTEXT: Patients with thyroidal congenital hypothyroidism (CH-T) born in The Netherlands in 1981-1982 showed persistent intellectual and motor deficits during childhood and adulthood, despite initiation of T(4) supplementation at a median age of 28 d after birth. OBJECTIVE: The present study examined whether advancement of treatment initiation to 20 d had resulted in improved cognitive and motor outcome. DESIGN/SETTING/PATIENTS: In 82 Dutch CH-T patients, born in 1992 to 1993 and treated at a median age of 20 d (mean, 22 d; range, 2-73 d), cognitive and motor outcome was assessed (mean age, 10.5 yr; range, 9.6-11.4 yr). Severity of CH-T was classified according to pretreatment free T(4) concentration. MAIN OUTCOME MEASURE: Cognitive and motor outcome of the 1992-1993 cohort in comparison to the 1981 to 1982 cohort was the main outcome measure. RESULTS: Patients with severe CH-T had lower full-scale (93.7), verbal (94.9), and performance (93.9) IQ scores than the normative population (P < 0.05), whereas IQ scores of patients with moderate and mild CH-T were comparable to those of the normative population. In all three severity subgroups, significant motor problems were observed, most pronounced in the severe CH-T group. No correlations were found between starting day of treatment and IQ or motor outcome. CONCLUSIONS: Essentially, findings from the 1992-1993 cohort were similar to those of the 1981-1982 cohort. Apparently, advancing initiation of T(4) supplementation from 28 to 20 d after birth did not result in improved cognitive or motor outcome in CH-T patients.

Child↗

PubMedDate not supplied

[Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in umbilical cord blood].

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent enzyme deficiency. It is a sex-linked genetic disease concerning mostly african, mediterranean and far-eastern populations. The main clinical expression is a hemolytic anemia which can be acute or chronic. During the neonatal period the disease may manifest as neonatal jaundice. We have been asked by the neonate department to set up a blood screening test for this deficiency. We have therefore developed a test using umbilical cord blood. The assay of G6PD has been automatised and red blood cell aspartate-amino-transferase (ASAT) chosen as a reference enzyme to evaluate the age of red blood cells. Normal values of G6PD, ASAT and G6PD/ASAT ratio have been calculated from 235 cord samples. Genetic frequency of this deficiency in 2002 was 6% in male and 1% in female newborns.

Acute Disease↗

PubMed2000

Neonatal screening for congenital toxoplasmosis in the Poznań region of Poland by analysis of Toxoplasma gondii-specific IgM antibodies eluted from filter paper blood spots.

OBJECTIVES: The aims of the study were to determine the prevalence of congenital toxoplasmosis at birth in the Poznań region of Poland, the value of the serologic examination of filter paper blood specimens collected from newborns for the diagnosis of congenital Toxoplasma infection and the duration of anti-Toxoplasma-specific IgM antibodies in infants' sera. MATERIALS AND METHODS: All neonates born in the maternity wards of the University Hospital of Gynaecology and Obstetrics in Poznań and in 10 selected obstetrics wards in the district hospitals were included. Blood samples were collected on filter paper cards, between the first and sixth day of life, screened for anti-Toxoplasma-specific IgM antibodies by an immunocapture enzyme-linked immunosorbent assay and if positive further analyzed for specific IgG and IgA antibodies. RESULTS: Between June, 1996, and October, 1998, filter paper samples from 27,516 liveborn infants were tested, which constituted approximately 75% of all births and 83% of liveborn neonates from the Poznań region. Anti-T. gondii-specific IgM antibodies were found in 13 newborns, equivalent to a prevalence of Toxoplasma-specific IgM in newborns of 1 per 2,117 liveborn children (0.47 per 1,000) or 1 per 870 children (1.15 per 1,000) born to seronegative women at risk of primary T. gondii infection during pregnancy. We identified two congenitally infected infants who were IgM-negative at birth, had a classic triad of clinical symptoms during the first year of life and had high levels of specific IgG. The birth prevalence of congenital toxoplasmosis in the Poznań region was at least 1 per 1,834 live births (0.55 per 1,000) or 1 per 754 live neonates born to seronegative women (1.33 per 1,000). The sensitivity of the IgM assay on eluate from filter paper was not more than 86.7%, and the mean duration of IgM detectable by enzyme-linked immunosorbent assay in serum samples was the first 4.8 weeks of life. CONCLUSION: In Poland the screening for congenital toxoplasmosis detecting one case per each 2,000 live births could be considered for inclusion in existing national neonatal screening programs for phenylketonuria and congenital hypothyroidism.

Animals↗

PubMed1981

Neonatal screening in Vancouver for congenital dislocation of the hip.

After 20 years' experience throughout the Western world the effectiveness of screening newborns for congenital dislocation of the hip remains controversial. Is the clinical test for hip instability (the Ortolani or "jump" sing) reliable? Are other equally important physical signs frequently missed by inexperienced examiners? Do some dislocations develop after the newborn period when no abnormality was identifiable during the first week of life? In Vancouver, screening for this condition was initiated in 1964. In the 5-year period 1967-1971 an orthopedic surgeon screened all the infants in the newborn nursery of one hospital, while orthopedic residents screened all those at another hospital. Their rates of neonatal and late (after the first month of lfe) diagnosis of congenital hip abnormalities were, respectively, 6 and 0.3/100 lives births for the surgeon and 5 and 0.8/1000 for the residents. In contrast, at 20 hospitals that did not have regular screenign the average rates were 1.2 and 1.4. Systematic screening the early treatment have great potential for reducing the need for immobilization and surgical treatment of infants who congenital dislocation of the hip is missed in the first month of life. it may also prevent the arthritic sequelae that in adult life afflict many patients whose treatment was begun after the newborn period.

Age Factors↗

PubMedDate not supplied

[Results of specific neonatal screening for congenital dysplasia of the hip at the Vicenza Hospital. A prospective study of subjects at risk].

The aim of the study was to evaluate the incidence of pathological neonatal hips in the community served by the central Vicenza local health authority and to establish a protocol to minimize demands on available equipment, staff and the family. From May 1992 to May 1993 all neonates at San Bortolo Hospital in Vicenza were subjected to specific clinical examination of the hip by staff experienced in neonatal care. Neonates then underwent ultrasound examination--catalogued according to Graf--if they presented risk factors (dynamic ultrasound test was omitted). The orthopaedic examination was carried out in all cases. The total number of neonates involved was 1939 (994 m., 945 f.). Of these, 142 (7.3%) underwent ultrasonography (60 m., 82 f.). Family history and breech delivery were the most frequent anamnestic risk factors justifying ultrasound examination while among objective risk factors the most frequent being a clicking sound. Considering the clinical and ultrasound findings the resulting overall incidence of pathological hips is 0.25%. So far, there have been no late cases of c.d.h. A screening protocol such as ours cannot realistically aim to identify all pathological hips, however the great majority can be diagnosed at this early stage. Resources comparable to those used for our study are available to many other local health authorities. Higher diagnostic standard depend closely on local health policy.

Cohort Studies↗

PubMed1996

Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population.

Hereditary fructose intolerance (HFI) causes severe and sometimes fatal metabolic disturbances in infants and children but responds to dietary treatment. To determine the practicability of screening newborn infants for HFI, we have investigated the frequency of the most common and widespread mutant allele of aldolase B, A149P, in the neonatal population. The polymerase chain reaction was used to amplify aldolase B exon 5 genomic sequences in DNA present in dried blood specimens preserved on Guthrie cards. The A149P mutation was identified by discriminatory hybridisation to allele specific oligonucleotides and confirmed independently by digestion with the restriction endonuclease BsaHI. Twenty-seven A149P heterozygotes were identified by the molecular analysis of aldolase B genes in blood samples obtained from a random cohort of 2050 subjects born in 1994 and 1995, 1.32 +/- 0.49% (95% confidence level). Although no A149P homozygotes were identified, the data allow the frequency of 1 in 23,000 homozygotes for this allele to be predicted. Our findings have implications for establishing an interventional mass screening programme to identify newborn infants with HFI in the UK.

Alleles↗

PubMed1986

Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West Germany.

Capillary blood samples from almost one million neonates from Baden-Württemberg were investigated for inborn errors of metabolism between 1969 and 1984 in our screening centre. Besides 7 patients with maple syrup urine disease (MSUD), 3 with homocystinuria and 18 with galactosaemia, a follow-up of the positive screening results confirmed 94 patients with phenylketonuria (PKU) and 76 with non-PKU hyperphenylalaninaemia (non-PKU HPA). The incidence of PKU is 1:10000, and that of HPA in the wider sense (PKU and non-PKU HPA) as obtained by newborn screening before further classification at 6 months 1:5532. For West Germany as a whole, the number of newly discovered cases with persistent hyperphenylalaninaemia was 1480 in the same period. The subdivision into PKU and non-PKU HPA is not yet possible from this figure. It is strongly suggested that the abnormal results of newborn screening for phenylalanine be designated as hyperphenylalaninaemia (in the wider sense) and that the terms "PKU" or "non-PKU HPA" be used only after further differentiation as carried out by us at the age of 6 months.

Capillaries↗

PubMed2005

Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program.

AIMS: To evaluate the incidence of congenital adrenal hyperplasia (CAH) in the Northern Italian population and the efficiency of the North-Eastern Italy screening program. To adjust cut-off levels for 17-hydroxyprogesterone (17-OHP) in relation to gestational age and birth weight, comparing the benefits in terms of reduction of recall rates with the two approaches and ultimately choosing the better of the two. SUBJECTS AND METHODS: Since September 2001, blood samples from neonates born in North-Eastern Italy have been screened with a fluoroimmunoassay method for 17-OHP determination (DELFIA). A preliminary cut-off level of > or = 30 nmol/l was set both for term and preterm newborns. The values of 17-OHP were analysed using statistical methods in relation to gestational age and birth weight in order to modify the cut-off on the basis of our data. RESULTS: After 33 months of screening we screened 128,282 newborns and detected 6 affected babies. During the first 8 months of screening among the recalled babies, 89.6 and 78.1% were preterm and low-birth-weight newborns, respectively, with a recall rate of 2.59% for premature neonates and of 4.94% for babies with birth weights < 2,500 g. We chose a new cut-off value of 50 nmol/l for preterm newborns only and, after 4 months, the recall rate was reduced to 0.83% for these infants and to 1.83% for low-birth-weight infants. CONCLUSION: After 33 months of screening for CAH in North-Eastern Italy, we report an incidence of 1:21,380. In 5 out of 6 affected babies, the diagnosis was established only after a positive screening test, which prevented a severe salt-wasting crisis in these babies. The cut-off level related to gestational age led to a significant reduction in the number of false-positives among preterm babies.We therefore intend to continue with the screening program for CAH in North-Eastern Italy, keeping a gestational-age-related cut-off in the hope that our data may encourage a national screening program for CAH.

17-alpha-Hydroxyprogesterone↗

PubMed2005

Neonatal screening for hearing impairment--The Oman experience.

BACKGROUND: Oman introduced universal hearing screening at a national level in 2002 after piloting it in limited regions. Authors present their experiences. METHODS: The screening had three phases. In Phase I, trained health staff of the delivery suits screened newborns by transient evoked otoacoustic emissions (TEOAE) test. In Phase II, otologists examined ears and repeated hearing tests after 6 weeks. Those who failed the repeat test were referred to a tertiary unit for the Phase III. Audiometrists tested their hearing by an Automated Auditory Brainstem Response (AABR). The rates of hearing disabled, false positive, yield and cost of screening were estimated. RESULTS: The coverage of Phase I was 66.6% (21,387/32,125) and it had significant regional variation. Two thousand two hundred and eighty-seven (10.7%) newborns were suspected with hearing impairment. We detected 262 (1.2%) children with hearing impairment. In Phase II, 55 (0.26%) neonates failed the test. In Phase III, 36 neonates were tested with ABR. Eleven were lost to follow up and eight children were advised to undergo further investigations. Ten children were found normal and 26 had hearing impairment. Six neonates had sensory-neuronal hearing loss, 17 children had otitis media with effusion and three children had atresia of the middle ear. The yield of hearing screening was 1.2/1000. The cost of screening was US$7.1/newborn. CONCLUSION: Universal hearing screening in Oman was useful but had teething problems. Proper planning, advocacy to the health staff and parents, commitment of the staff and care of the equipment are important. Such screening should be complimented with a defaulter retrieval and rehabilitation facilities for the hearing disabled.

Ear↗

PubMed1997

Capillary blood collection for neonatal screening tests should require a certificate of competence.

Fourteen years ago, Patricia Townshend (1980) suggested that, "blood letting by heel prick should become a procedure that requires a certificate of competence". To date, her suggestion has not been adopted, as competency is not a requirement to undertake this procedure. However, over the years many institutions have introduced accreditation for similar skills, such as diabetic monitoring and venepuncture. As a consequence, I believe standards of patient care have improved immensely. No longer can we assume all midwives are using the same techniques for neonatal capillary blood collection. From my observations of varied practice, such as twisting the blade and making multiple punctures for the one screening test, coupled with the poor quality of blood spot specimens frequently received by the central screening laboratory, it could be suggested that the introduction of accreditation for this skill, is well justified.

Blood Specimen Collection↗

PubMed1994

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis.

The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. With more than 300 mutations so far described in the gene the profile of mutant alleles in a population is specific to its ethnic origin. For an analysis with an unbiased recruitment of the CF alleles in neonates of similar origin (Normandy, France), we have retrospectively analyzed the Guthrie cards of affected newborns, diagnosed by the immunoreactive trypsinogen (IRT) assay. Analysis of the 27 exons of the CFTR gene using a GC clamp denaturing gradient gel electrophoresis (DGGE) assay has enabled us to identify over 96% of the mutated alleles. Two of these were novel mutations. We would like to propose this strategy as an efficient method of retrospective molecular genetic diagnosis that can be performed wherever Guthrie cards can be obtained. Knowledge of rare alleles could be a prerequisite for CF therapy in the future.

Base Sequence↗

PubMed1994

Neonatal screening for congenital hypothyroidism using the filter paper thyroxine technique.

A total of 25,244 full term consecutive newborns were screened for hypothyroidism at 24 to 96 h of birth using the filter paper technique for thyroxine. The screening protocol based on our pilot study considered filter paper thyroxine (FP-T4) values of 51 to 80 ng/ml (-1 SD) as borderline and < 50 ng/ml (-2 SD) as high risk for congenital hypothyroidism. FP-T4 and/or serum T4 and TSH were reestimated in all neonates with FP-T4 < 80 ng/ml. A total of 4775 (18.9%) newborns (FP-T4, 51 to 80 ng/ml in 4435 and < 50 ng/ml in 340) needed the recall; 2237 (50.4%) with FP-T4 51 to 80 ng/ml recalled by letters and 283 (83.3%) of the 340 subjects with FP-T4 < 50 ng/ml recalled by home visit, responded by 6 wk of age. Congenital hypothyroidism was confirmed in 6 newborns. FP-T4 in one persisted at 55 ng/ml on follow up and in the remainder both initial and repeat values were < 50 ng/ml. Follow up serum T4 values were subnormal (7.8-50.2 ng/ml) and serum TSH elevated (80-1233 IU/ml). Technetium thyroid scan showed agenesis in 3, ectopia in 2 and normal gland with probable dyshormonogenesis in one. Three other newborns (FP-T4 93 to 143 ng/ml) escaped primary detection and were referred later for congenital hypothyroidism. The incidence of congenital hypothyroidism by primary screening was 1:4207 (6 of 25,244) but with these 3 missed cases, probably 1:2804. Congenital hypothyroidism was reconfirmed in all 9 infants between the ages of 2 1/2 to 4 yr.(ABSTRACT TRUNCATED AT 250 WORDS)

Congenital Hypothyroidism↗

PubMed1994

[Economic analysis of neonatal screening for drepanocytosis in metropolitan France].

There is indisputable evidence that mortality and morbidity can be significantly reduced by programmes that screen newborns for sickle cell disease. But in the French epidemiological context, national decision regarding generalization of local screening programmes to all newborns must take into account economic considerations as at-risk populations represent, in most geographic areas, a few percent of the total population. Targeted screening can be considered but raises ethical and practical issues. In order to compare alternative screening strategies, a cost-effectiveness analysis has been performed. The analysis is based on a screening programme of newborns conducted in the south-eastern suburb of Paris. Strategies have been defined in terms of laboratory procedures (isoelectrofocalisation, electrophoresis on citrate agar, high pressure liquid chromatography, BIORAD technique,...) and methods for blood collection (dried paper, micro-tube). An evaluation of all the necessary costs have been performed for each strategy in the biochemistry laboratory in charge of the neonatal programme. Costs have been estimated from detailed observation of physical quantities of capital and labour involved in each case. Evolution of unit and marginal costs according to the level of annual production has been assessed. Effectiveness has been measured in terms of number of sickle cell cases detected. Screening of at-risk babies in Paris region would permit detection of 80 to 215 babies each year at a unit cost per case found varying from 1 to 2,800 US$ (according to hypothesis of prevalence). When compared with other programmes of prevention, results of selected screening of newborns in whole metropolitan France suggest that this action might be discussed by public health authorities.

Anemia, Sickle Cell↗

PubMed1986

Neonatal screening with auditory brainstem responses: results of follow-up audiometry and risk factor evaluation.

To determine the incidence and outcome of neurosensory hearing loss in infants, without selection bias, volunteers screened all infants from intensive care and well-baby nurseries of a tertiary care center for risk factors over 1 year; infants with sufficient risk factors were screened for auditory brainstem evoked response. Infants with abnormal findings received audiometric follow-up. Results of a 1-year follow-up study are reported. Risk factor evaluation revealed a 17% incidence of neurosensory hearing loss in a subgroup of infants with multiple risks such as birth weight less than 1500 gm, with perinatal asphyxia, subsequent hypoxemia, and hospital stay greater than 2 months. All infants with permanent hearing loss were assigned to this category. Our results suggest that this population is at greatest risk for early hearing impairment.

Audiometry↗

PubMed1999

Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening.

BACKGROUND: Central Middlesex Hospital, in northwest London, has screened neonates for hemoglobinopathies, using the established manual technique of isoelectric focusing (IEF) since 1989. Recently, this laboratory has faced a large increase in the number of samples tested per year. This study compared the detection of hemoglobin abnormalities between the existing manual IEF method and that of automated cation-exchange HPLC to determine the reliability of HPLC and whether an automated system would save time in the laboratory. METHODS: Over a 15-month period, 25 750 blood samples, collected by heel prick onto filter paper, were tested using HPLC, and the results were compared with those obtained with IEF. RESULTS: HPLC and IEF each identified 568 patients with FAS, 151 with FAC, 49 with FAD-Punjab, 23 with FS, 3 with FC, 6 with FSC, 5 with FE, and 1 with FD. IEF detected 62 patients with FAE, whereas HPLC detected 63. This additional FAE was observed on repeat IEF. One additional heterozygote detected by HPLC was initially not observed by IEF, but was detected on repeat IEF. HPLC detected all but six cases of Hb Barts observed by IEF. One double heterozygote and four heterozygotes were detected by IEF, but not by HPLC. The detection of hemoglobin variants expressed at low concentrations was comparable for the two methods, and carryover was not observed in routine analysis on HPLC. CONCLUSIONS: HPLC is a sensitive, efficient, and time-saving alternative to IEF for the neonatal screening of common hemoglobinopathies.

Chromatography, High Pressure Liquid↗