PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Neonatal Screening”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 559 records · Page 31Linked to original sources
PubMed1986

Neonatal screening for sickle cell diseases in Camberwell: results and recommendations of a two year pilot study.

The sickle cell diseases are a major health problem for Afro-Caribbean peoples. Neonatal detection and prophylactic management can reduce mortality and morbidity in childhood. A study was therefore conducted analysing the results of the first two years of cord blood screening in the Camberwell health area. Thirteen cases of sickle cell disease and two of haemoglobin (Hb)C disease were identified among 2202 non-white infants screened. The carrier state, sickle cell trait (HbAS), was present in 11.9% and HbC trait (HbAC) in 4.1% of Afro-Caribbean infants. The incidence of disease and of carrier states was much higher in West Africans than in Caribbeans. The wider implications of screening and the need for a comprehensive plan of care are emphasised.

Anemia, Sickle Cell↗
PubMed1982

Neonatal screening of beta-thalassemias by thin layer isoelectric focusing.

As an alternative to the recently proposed screening for beta-thalassemias by isoelectric focusing (IEF) of denatured globin chains in urea-detergent gels [6], IEF of intact hemoglobins, obtained from umbilical cord blood in neonatal units, is reported here. For maximum separation, IEF should be performed in nonlinear pH gradients, in gels containing 0.2 M beta-alanine and 0.2 M 6-amino caproic acid, which flatten the pH gradient around pH 7, thus increasing the resolution between HbA and HbFac. The method can unambiguously detect homozygous and heterozygous beta-thalassemic conditions. A bimodal distribution of HbA at birth has been found: In heterozygous patients, HbA values of 9.02% (range 6.8-9.98%) have been found while in normal newborns HbA levels of 20.34% (range 11.02-30.6%) have been demonstrated.

Fetal Blood↗
PubMedDate not supplied

Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-alpha-hydroxyprogesterone assay.

A micromethod for measuring 17 alpha-hydroxyprogesterone in blood collected on filter paper has been developed. Our method is rapid, easy and has the specificity, accuracy and precision of the radioimmunoassay in whole blood. The method has been applied for screening patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Fifty samples collected on filter paper were assayed by our method, using 125I as tracer, and results were compared with those obtained for the same samples using a tritium tracer. The agreement between the two methods was particularly good in the area ranging from 15 to 100 pg/disc. In one neonate the diagnosis of CAH was made utilizing the microfilter paper method. Our method is a promising screening test for CAH. An indication of the advantages or disadvantages of this type of screening will become available when an adequate number of infants has been examined.

Adrenal Hyperplasia, Congenital↗
PubMed1998

Screening for neonatal hyperbilirubinaemia and ABO alloimmunization at the time of testing for phenylketonuria and congenital hypothyreosis.

In a population-based study including 2463 infants, serum bilirubin measurements were added to the neonatal screening programme for phenylketonuria and congenital hypothyreosis. This screening programme detected 11/17 (65%) of infants with serum bilirubin levels >350 micromol 1(-1), of whom 7 (3 per 1000) were readmitted from home (6 treated with phototherapy). A total of 139 infants (5.6%) received phototherapy. Maternal blood type O occurred significantly more often in term infants treated (30/54; 55.6%) compared with preterm infants treated (32/85; 37.6%) and with blood type O occurrence in the total population of mothers (906/2426; 37.3%) (p < 0.05). The blood type constellations mother O/infant A or B showed a sensitivity of 64%, specificity 65%, positive predictive value 12% and a negative predictive value of 96% for the requirement of phototherapy for the whole material. Exchange transfusion was not required in any of the infants. No infant developed bilirubin encephalopathy (kemicterus). Adding bilirubin to a neonatal screening programme detects some cases with unexpectedly high bilirubin levels in need of intervention. Routine ABO blood typing of pregnant women, ABO cord blood typing and Coombs' test in infants of mothers with blood type O cannot be recommended because of low positive predictive value for the requirement of intervention (phototherapy) by these tests.

ABO Blood-Group System↗
PubMed1993

Clinical characteristics of congenital hypothyroidism detected by neonatal screening.

Various clinical features have been prospectively evaluated in 18 infants with congenital hypothyroidism detected by the National Taiwan University Hospital screening program from January 1990 to May 1991. During the same period of time, 24 suspected cases with normal thyroid function at referral were similarly evaluated and used as controls. Among the various clinical features evaluated, there were statistically significant differences between the two groups for the following five items: feeding problems, constipation, dry skin, umbilical hernia and enlarged posterior fontanel. However, these findings were subtle and nonspecific. Even when the neonatal hypothyroid index (Quebec) was used for evaluation, only one-half of these hypothyroid babies had scores of more than two. On the other hand, there was a statistically significant difference in the thyroid function test between the two groups whether it was determined from the filter paper spot or the serum. Our observations clearly demonstrate the difficulty in establishing a diagnosis of congenital hypothyroidism on clinical grounds only at an early age of life. This study also emphasizes the importance of biochemical screening in the early detection and treatment of hypothyroid infants.

Age Factors↗
PubMed1982

Neonatal screening for congenital adrenal hyperplasia using a microfilter paper method for 17-alpha-hydroxyprogesterone radioimmunoassay. Experience gained from the study of 22,233 cases.

We examined 22,233 infants born in Emilia-Romagna (Italy). Capillary blood samples for 17-OH-progesterone assay were collected on the 3rd, 4th, 5th, 6th or 7th day of life on filter paper of the same type used for the screening of aminoacidopathy and hypothyroidism. 17-OH-progesterone values were determined using a micromethod modified from that of Pang and co-workers. 20 pg/disk was considered as a threshold value and called for a second assay, which was performed in 0.18% of the cases. Pathologic values of 17-OH-progesterone were confirmed in the serum of 4 neonates. In our population the incidence of 21-hydroxylase deficiency was found to be 1 out of 5,558 cases.

Adrenal Hyperplasia, Congenital↗
PubMedDate not supplied

[Neonatal screening of congenital hypothyroidism with TSH measurement in dried blood spots on filter paper. A two years experience (author's transl)].

Systematic screening for congenital hypothyroidism was started in Lyon in september 1976. This screening was coupled with PKU, using the same dried blood samples on filter paper obtained on the 5th day of life. TSH levels were determined by radioimmunoassay adapted for dried blood samples (Kit Abbott). In 24 months, 56 176 samples were analyzed. The critical level calling for control was successively raised from from 20 to 30, now 40 microUI/ml of serum. A high level of TSH was found in 307 children (0,55%). Pathological deliveries were found in most of these infants (neonatal injury, cesarean, section forceps or ocytocic perfusion, neonatal icterus) and a second or a third measurement showed normal TSH level. Congenital hypothyroidism, was found detected in 18 infants: 12 ectopic gland, 5 athyreosis and 1 dyshormonogenesis. Treatment was begun at a mean age of 38 days (29 to 50 days).

Congenital Hypothyroidism↗
PubMedDate not supplied

[Neonatal screening for congenital hypothyroidism by measuring TSH in dried blood samples. Two years experience in the method (author's transl)].

Systematic screening for congenital hypothyroidism was started in Lyon in September 1976. This screening was coupled with PKU screening, using the same dried blood samples in filter paper obtained on the 5 th day of life. TSH levels were determined by radioimmunoassay adapted for dried blood samples (Kit Abbott). In 24 months, 56 176 samples were analyzed. The critical level calling for control was successively raised from 20 to 30 now 40 muUl/ml of serum. A high level of TSH was found in 307 children (0.55 p. 100). Pathological deliveries were found in most of these infants (neonatal injury, cesarean section, forceps or ocytocic perfusion, neonatal icterus) and a second or a third measurement showed normal TSH level. Congenital hypothyroidism, was detected in 18 infants: 12 ectopic gland, 5 athyreosis and 1 dyshormonogenesis. Treatment was begun at a mean age of 38 days (29 to 50 days). Despite a short follow-up the psychomotor development of the infants seems to be normal in all cases but one (one athyreosis with a neonatal injury and a malformative syndrome).

Blood Specimen Collection↗
PubMed1976

Neonatal screening for detection of deafness.

To assess various methods of early detection of deafness, a longtudinal study of infants born in the Jerusalem area was performed. The 17,731 newborns were tested by an acoustic signal generator hearing test (Apriton), and the "at risk" for deafness register was applied to them. Twenty-five children were identified as deaf, 14 with severe or profound hearing loss and 11 with moderate or moderately severe loss. The screening hearing test did not prove to be sensitive enough for detection of deafness in newborns, and, therefore, is not considered valid for screening purposes. The at risk for deafness register, which in our program covered 20% of the entire newborn population, proved to be to expensive and impractical; a restricted register, including approximately 7% of the newborns, is suggested.

Acoustic Stimulation↗
PubMed1985

Neonatal screening and genetic counseling for sickle cell trait.

In a newborn screening program for abnormal hemoglobins, 91 infants were found to have hemoglobin AS or AC. Their parents were informed and offered genetic counseling, but only 35% accepted. We tested parents' knowledge of sickle disorders before and after the session. The tests were repeated when their babies were 4 to 8 months old; parents of babies with normal hemoglobin and those with sickle trait who had not been counseled were also tested at this time. Parents who received counseling showed an increase in knowledge and retained it until the second interview although 27% did not recall the original session. Uncounseled parents of "trait families" also had knowledge of the condition; in general, trait families knew more about the condition than normals' families. Newborn hemoglobin screening programs prove helpful for certain families but not necessarily for all who may be eligible.

Anemia, Sickle Cell↗
PubMed1981

Neonatal screening for hypothyroidism in Greece.

One year's experience in screening for congenital hypothyroidism in Greece is reported. Thyroid stimulating hormone (TSH) determination by a radioimmunoassay on dried blood spots was selected as the screening method. During the first year of screening 75,879 newborn infants were tested from Guthrie blood spots taken on the 5th day of life. Eighteen cases of primary congenital hypothyroidism with serum TSH levels over 100 microIU/ml were detected, giving an incidence of 1: 4200. One case had already been diagnosed clinically. Replacement treatment was started between the 22nd and the 50th days of life.

Congenital Hypothyroidism↗