Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening
The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolo...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2016-09-01
|
| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426916300672 |
| _version_ | 1818277365717925888 |
|---|---|
| author | José Ramón Alonso-Fernández |
| author_facet | José Ramón Alonso-Fernández |
| author_sort | José Ramón Alonso-Fernández |
| collection | DOAJ |
| description | The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some time, but has not hitherto been exploited for primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determination of the product of reaction between urinary pregnanetriolone and phosphoric acid. |
| first_indexed | 2024-12-12T23:00:23Z |
| format | Article |
| id | doaj.art-651c42e3fc91492da65ba0637e919260 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-12T23:00:23Z |
| publishDate | 2016-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-651c42e3fc91492da65ba0637e9192602022-12-22T00:08:50ZengElsevierMolecular Genetics and Metabolism Reports2214-42692016-09-018C9910210.1016/j.ymgmr.2016.08.006Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screeningJosé Ramón Alonso-FernándezThe standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some time, but has not hitherto been exploited for primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determination of the product of reaction between urinary pregnanetriolone and phosphoric acid.http://www.sciencedirect.com/science/article/pii/S2214426916300672Newborn screeningCongenital adrenal hyperplasia (CAH)Urine sample on paperPregnanetriolone |
| spellingShingle | José Ramón Alonso-Fernández Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening Molecular Genetics and Metabolism Reports Newborn screening Congenital adrenal hyperplasia (CAH) Urine sample on paper Pregnanetriolone |
| title | Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening |
| title_full | Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening |
| title_fullStr | Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening |
| title_full_unstemmed | Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening |
| title_short | Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening |
| title_sort | pregnanetriolone in paper borne urine for neonatal screening for 21 hydroxylase deficiency the place of urine in neonatal screening |
| topic | Newborn screening Congenital adrenal hyperplasia (CAH) Urine sample on paper Pregnanetriolone |
| url | http://www.sciencedirect.com/science/article/pii/S2214426916300672 |
| work_keys_str_mv | AT joseramonalonsofernandez pregnanetrioloneinpaperborneurineforneonatalscreeningfor21hydroxylasedeficiencytheplaceofurineinneonatalscreening |