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 415 records · Page 23Linked to original sources
PubMed1991

Neonatal screening for biotinidase deficiency in east-Hungary.

There are two types of multiple carboxylase deficiency, the neonatal form with holocarboxylase synthetase defect and the late-onset form with biotinidase deficiency. We report our preliminary experiences in screening for biotinidase deficiency. In total 43,493 infants were screened for the deficiency of the enzyme biotinidase; 0.14% false positive results that necessitated requests for second blood samples and two newborns with a biotinidase defect were identified during our pilot study. The definitive diagnosis required the demonstration of enzyme deficiency in serum. Both of the patients have residual biotinidase activity: 3.59% and 7.55%. These two newborns with biotinidase deficiency are treated with daily supplementation of free biotin. According to our preliminary results biotinidase deficiency satisfies all the criteria for incorporation into the national newborn mass screening.

Amidohydrolases↗
PubMedDate not supplied

[Neonatal screening for hypothyroidism. Nord-Picardie regional experience (author's transl)].

The routine T4 determination from filter paper blood spots, with supplementary T.S.H. and T.B.G. determinations on subnormal T4 values, is a reliable method for neonatal hypothyroidism screening. Preliminary results, presently reported, agree with previous studies. However a larger experience is still necessary to decide the best way for mass-screening of congenital hypothyroidism.

Congenital Hypothyroidism↗
PubMed2003

Bioethical considerations in neonatal screening: Japanese experiences.

Since 1979, at least 13,000 affected babies have been identified with one of the tested diseases. The outcome for patients is generally favorable if adequate treatment is given. Recently, ethical issues have arisen concerning whether or not written informed consent should be required, under what conditions the residual blood spot may be used for research purposes other than that originally designed, and whether or not the test is cost-effective. Mandatory screening seems acceptable under certain conditions, but parental education and opportunity for refusal should be part of the system. Refusal should be documented only after an attempt has been made to persuade parents to consent. Informed consent is necessary if there is uncertainty about the test's benefit to the child. Parents should be informed of the potential research value of the samples and assured that research results will not be linked to any particular/individual newborn. If identified or coded blood spots are used for research, IRB review and approval by IRB must occur. The net health care benefit from screening for six disorders in Japan was 0.25 billion yen ($2.2 million) per 100,000 screened newborns compared to $3.2 million for PKU and CH in the US for 100,000 screened newborns.

Blood Specimen Collection↗