{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T02:24:55Z","timestamp":1777861495778,"version":"3.51.4"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T00:00:00Z","timestamp":1777248000000},"content-version":"vor","delay-in-days":45,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"DOI":"10.1038\/s41598-026-44096-1","type":"journal-article","created":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T14:57:37Z","timestamp":1773413857000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Awareness and knowledge of obstetricians about prenatal findings of inherited metabolic disorders"],"prefix":"10.1038","volume":"16","author":[{"given":"Ekin","family":"\u00d6zsayd\u0131 Akta\u015fo\u011flu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enes","family":"Kumcu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selen","family":"Has \u00d6zhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halil Tuna","family":"Akar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asbur\u00e7e","family":"Olga\u00e7","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"G\u00fcnd\u00fcz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00fcseyin Levent","family":"Keskin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,13]]},"reference":[{"key":"44096_CR1","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1016\/B978-0-444-64029-1.00022-9","volume":"162","author":"CR Ferreira","year":"2019","unstructured":"Ferreira, C. R. & van Karnebeek, C. D. M. Inborn errors of metabolism. Handb. Clin. Neurol. 162, 449\u2013481. https:\/\/doi.org\/10.1016\/B978-0-444-64029-1.00022-9 (2019).","journal-title":"Handb. Clin. Neurol."},{"issue":"6","key":"44096_CR2","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1038\/nrg1880","volume":"7","author":"B Lanpher","year":"2006","unstructured":"Lanpher, B., Brunetti-Pierri, N. & Lee, B. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat. Rev. Genet. 7 (6), 449\u2013459. https:\/\/doi.org\/10.1038\/nrg1880 (2006).","journal-title":"Nat. Rev. Genet."},{"issue":"6","key":"44096_CR3","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1002\/iub.336","volume":"62","author":"S Illsinger","year":"2010","unstructured":"Illsinger, S. & Das, A. M. Impact of selected inborn errors of metabolism on prenatal and neonatal development. IUBMB Life. 62 (6), 403\u2013413. https:\/\/doi.org\/10.1002\/iub.336 (2010).","journal-title":"IUBMB Life"},{"issue":"6","key":"44096_CR4","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1097\/OGX.0000000000000566","volume":"73","author":"MK Hopkins","year":"2018","unstructured":"Hopkins, M. K., Dugoff, L. & Kuller, J. A. Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist. Obstet. Gynecol. Surv. 73 (6), 361\u2013367. https:\/\/doi.org\/10.1097\/OGX.0000000000000566 (2018).","journal-title":"Obstet. Gynecol. Surv."},{"issue":"3","key":"44096_CR5","first-page":"207","volume":"26","author":"A G\u00fclseren","year":"2025","unstructured":"G\u00fclseren, A. & Gulcu Taskin, D. Comparison of neutrophil lymphocyte ratio and platelet lymphocyte ratio with the degree of hepatosteatosis in overweight children diagnosed with non-alcoholic fatty liver disease. Kocatepe Med. J. 26 (3), 207\u2013211 (2025).","journal-title":"Kocatepe Med. J."},{"issue":"1","key":"44096_CR6","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1007\/s10545-016-9992-3","volume":"40","author":"L Guibaud","year":"2017","unstructured":"Guibaud, L. et al. Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings. J. Inherit. Metab. Dis. 40 (1), 103\u2013112. https:\/\/doi.org\/10.1007\/s10545-016-9992-3 (2017).","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"44096_CR7","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1016\/S0095-5108(18)30544-X","volume":"17","author":"AK Iafolla","year":"1990","unstructured":"Iafolla, A. K. & McConkie-Rosell, A. Prenatal diagnosis of metabolic disease. Clin. Perinatol. 17 (4), 761\u2013777 (1990).","journal-title":"Clin. Perinatol."},{"issue":"12","key":"44096_CR8","doi-asserted-by":"publisher","first-page":"1544","DOI":"10.1002\/pd.6895","volume":"45","author":"S Araji","year":"2025","unstructured":"Araji, S., Turkoglu, O., Maktabi, M. A., Ashby, T. & Van den Veyver, I. B. Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature. Prenat Diagn. 45 (12), 1544\u20131558. https:\/\/doi.org\/10.1002\/pd.6895 (2025).","journal-title":"Prenat Diagn."},{"issue":"3","key":"44096_CR9","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.ymgme.2014.05.004","volume":"112","author":"MJ Miller","year":"2014","unstructured":"Miller, M. J. et al. Improved standards for prenatal diagnosis of citrullinemia. Mol. Genet. Metab. 112 (3), 205\u2013209. https:\/\/doi.org\/10.1016\/j.ymgme.2014.05.004 (2014).","journal-title":"Mol. Genet. Metab."},{"issue":"8","key":"44096_CR10","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1002\/pd.1767","volume":"27","author":"RJ Desnick","year":"2007","unstructured":"Desnick, R. J. Prenatal diagnosis of Fabry disease. Prenat Diagn. 27 (8), 693\u2013694. https:\/\/doi.org\/10.1002\/pd.1767 (2007).","journal-title":"Prenat Diagn."},{"issue":"5","key":"44096_CR11","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1007\/s10545-016-9947-8","volume":"39","author":"C Vianey-Saban","year":"2016","unstructured":"Vianey-Saban, C. et al. Antenatal manifestations of inborn errors of metabolism: biological diagnosis. J. Inherit. Metab. Dis. 39 (5), 611\u2013624. https:\/\/doi.org\/10.1007\/s10545-016-9947-8 (2016).","journal-title":"J. Inherit. Metab. Dis."},{"issue":"5","key":"44096_CR12","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1007\/s10545-016-9937-x","volume":"39","author":"S Collardeau-Frachon","year":"2016","unstructured":"Collardeau-Frachon, S., Cordier, M., Rossi, M., Guibaud, L. & Vianey\u2010Saban, C. Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. J. Inherit. Metab. Dis. 39 (5), 597\u2013610. https:\/\/doi.org\/10.1007\/s10545-016-9937-x (2016).","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"44096_CR13","first-page":"374","volume":"159","author":"R Diukman","year":"1993","unstructured":"Diukman, R. & Goldberg, J. D. Prenatal diagnosis of inherited metabolic diseases. West. J. Med. 159 (3), 374\u2013381 (1993).","journal-title":"West. J. Med."},{"issue":"3","key":"44096_CR14","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1007\/s10545-011-9389-2","volume":"35","author":"JG Langendonk","year":"2012","unstructured":"Langendonk, J. G. et al. A series of pregnancies in women with inherited metabolic disease. J. Inherit. Metab. Dis. 35 (3), 419\u2013424. https:\/\/doi.org\/10.1007\/s10545-011-9389-2 (2012).","journal-title":"J. Inherit. Metab. Dis."},{"key":"44096_CR15","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-025-01995-7","author":"A Soriano-Sexto","year":"2026","unstructured":"Soriano-Sexto, A. et al. Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling. Eur. J. Hum. Genet. https:\/\/doi.org\/10.1038\/s41431-025-01995-7 (2026).","journal-title":"Eur. J. Hum. Genet."},{"key":"44096_CR16","unstructured":"van der Crabben, S. N. & de Koning, T. J. Serine Deficiency Disorders. In: GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 2023 Jun 22. (1993)."},{"issue":"23","key":"44096_CR17","doi-asserted-by":"publisher","first-page":"4111","DOI":"10.3390\/nu16234111","volume":"16","author":"C Rohde","year":"2024","unstructured":"Rohde, C. et al. The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program. Nutrients 16 (23), 4111. https:\/\/doi.org\/10.3390\/nu16234111 (2024).","journal-title":"Nutrients"},{"issue":"21","key":"44096_CR18","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1056\/NEJM198011203032104","volume":"303","author":"RR Lenke","year":"1980","unstructured":"Lenke, R. R. & Levy, H. L. Maternal Phenylketonuria and Hyperphenylalaninemia. N. Engl. J. Med. 303 (21), 1202\u20131208. https:\/\/doi.org\/10.1056\/NEJM198011203032104 (1980).","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"44096_CR19","doi-asserted-by":"publisher","first-page":"374","DOI":"10.3945\/ajcn.110.009456","volume":"95","author":"BW Prick","year":"2012","unstructured":"Prick, B. W., Hop, W. C. & Duvekot, J. J. Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. Am. J. Clin. Nutr. 95 (2), 374\u2013382. https:\/\/doi.org\/10.3945\/ajcn.110.009456 (2012).","journal-title":"Am. J. Clin. Nutr."},{"issue":"4","key":"44096_CR20","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1097\/00003081-198112000-00005","volume":"24","author":"BK Burton","year":"1981","unstructured":"Burton, B. K. & Nadler, H. L. Antenatal diagnosis of metabolic disorders. Clin. Obstet. Gynecol. 24 (4), 1041\u20131054. https:\/\/doi.org\/10.1097\/00003081-198112000-00005 (1981).","journal-title":"Clin. Obstet. Gynecol."},{"issue":"1","key":"44096_CR21","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1080\/15513815.2024.2447082","volume":"44","author":"M Ko\u00e7 Yeked\u00fcz","year":"2025","unstructured":"Ko\u00e7 Yeked\u00fcz, M. et al. Challenges Faced by Newborns with Inherited Metabolic Disorders and Their Mothers During Antepartum, Intrapartum, and Postpartum Periods. Fetal Pediatr. Pathol. 44 (1), 53\u201362. https:\/\/doi.org\/10.1080\/15513815.2024.2447082 (2025).","journal-title":"Fetal Pediatr. Pathol."},{"issue":"2","key":"44096_CR22","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1097\/00003081-198806000-00013","volume":"31","author":"JM Johnson","year":"1988","unstructured":"Johnson, J. M. & Elias, S. Prenatal treatment: medical and gene therapy in the fetus. Clin. Obstet. Gynecol. 31 (2), 390\u2013407. https:\/\/doi.org\/10.1097\/00003081-198806000-00013 (1988).","journal-title":"Clin. Obstet. Gynecol."},{"issue":"7","key":"44096_CR23","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1056\/NEJM197508142930701","volume":"293","author":"MG Ampola","year":"1975","unstructured":"Ampola, M. G., Mahoney, M. J., Nakamura, E. & Tanaka, K. Prenatal Therapy of a Patient with Vitamin-B 12 -Responsive Methylmalonic Acidemia. N. Engl. J. Med. 293 (7), 313\u2013317. https:\/\/doi.org\/10.1056\/NEJM197508142930701 (1975).","journal-title":"N. Engl. J. Med."},{"issue":"8287","key":"44096_CR24","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1016\/S0140-6736(82)92452-7","volume":"319","author":"S Packman","year":"1982","unstructured":"Packman, S. et al. Prenatal treatment of b\u0131ot\u0131n-respons\u0131ve mult\u0131ple carboxylase def\u0131c\u0131ency. Lancet 319 (8287), 1435\u20131439. https:\/\/doi.org\/10.1016\/S0140-6736(82)92452-7 (1982).","journal-title":"Lancet"},{"key":"44096_CR25","doi-asserted-by":"crossref","unstructured":"Jaeken, J., Johannes, H. & Oliver, D. Disorders of Glutamine, Serine and Asparagine Metabolism. In: Saudubray JM, Baumgartner MR, Garcia-Cazorla A, Walter JH, editors. Inborn Metabolic Diseases. 7th ed. pp. 471\u20139. (2022).","DOI":"10.1007\/978-3-662-63123-2_24"},{"issue":"13","key":"44096_CR26","doi-asserted-by":"publisher","first-page":"1638","DOI":"10.1002\/pd.6460","volume":"43","author":"A Herzeg","year":"2023","unstructured":"Herzeg, A. et al. Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects. Prenat Diagn. 43 (13), 1638\u20131649. https:\/\/doi.org\/10.1002\/pd.6460 (2023).","journal-title":"Prenat Diagn."},{"issue":"5","key":"44096_CR27","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1016\/j.bpobgyn.2015.04.006","volume":"29","author":"E Murphy","year":"2015","unstructured":"Murphy, E. Medical Problems in Obstetrics: Inherited Metabolic Disease. Best Pract. Res. Clin. Obstet. Gynaecol. 29 (5), 707\u2013720. https:\/\/doi.org\/10.1016\/j.bpobgyn.2015.04.006 (2015).","journal-title":"Best Pract. Res. Clin. Obstet. Gynaecol."},{"issue":"1","key":"44096_CR28","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1186\/s12909-023-04548-y","volume":"23","author":"N Ko\u00e7","year":"2023","unstructured":"Ko\u00e7, N. & C\u00f6mert, T. K. Knowledge and awareness level of healthcare professional candidate students on inherited metabolic diseases: a cross-sectional study. BMC Med. Educ. 23 (1), 562. https:\/\/doi.org\/10.1186\/s12909-023-04548-y (2023).","journal-title":"BMC Med. Educ."},{"key":"44096_CR29","first-page":"13","volume":"18","author":"MM Kaback","year":"1977","unstructured":"Kaback, M. M., Nathan, T. J. & Greenwald, S. Tay-Sachs disease: heterozygote screening and prenatal diagnosis\u2013U.S. experience and world perspective. Prog Clin. Biol. Res. 18, 13\u201336 (1977).","journal-title":"Prog Clin. Biol. Res."},{"issue":"2","key":"44096_CR30","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1111\/j.1399-0004.1974.tb01677.x","volume":"5","author":"P Bergeron","year":"1974","unstructured":"Bergeron, P., Laberge, C. & Grenier, A. Hereditary tyrosinemia in the province of Quebec: Prevalence at birth and geographic distribution. Clin. Genet. 5 (2), 157\u2013162. https:\/\/doi.org\/10.1111\/j.1399-0004.1974.tb01677.x (1974).","journal-title":"Clin. Genet."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-026-44096-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-026-44096-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-026-44096-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:18:09Z","timestamp":1777522689000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-026-44096-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,13]]},"references-count":30,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["44096"],"URL":"https:\/\/doi.org\/10.1038\/s41598-026-44096-1","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,13]]},"assertion":[{"value":"9 February 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study was planned in accordance with the principles of the Declaration of Helsinki, approved by the Ankara Etlik City Hospital Ethics Committee (No. AE\u015eH-BADEK-2024-090), and informed consent was obtained from the participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"All authors agreed to publication.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"13421"}}