{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T19:21:55Z","timestamp":1774380115365,"version":"3.50.1"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T00:00:00Z","timestamp":1774310400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Genetic mutations can lead to miscarriages, perinatal deaths, and abnormalities in fetal development. Sometimes, the regular prenatal test cannot identify some rare diseases, but whole-exome sequencing can be performed. Whole-exome sequencing testing is not a routine prenatal test unless there is a family history or a history of adverse pregnancy due to a genetic disorder.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We reported a case of stillbirth caused by a rare genetic disease, secondary to an MTM1 gene mutation. It was found to have no abnormality during childbirth; even electronic fetal monitoring showed no signs of fetal distress. However, delivery concluded with a stillborn birth, and the offspring having no crying, poor muscle tone, and pale skin. Due to the unclear cause of stillbirth, the patient requested further diagnostic genetic testing to identify a cause. The MTM1 gene hemizygous variant was detected by whole-exome sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Stillbirth due to genetic mutations may not be detected by non-invasive prenatal testing or chromosome copy number variant analysis. Broad Next-Generation Sequencing, such as whole-exome sequencing, has the potential to identify genetic causes that are missed by non-invasive prenatal testing or chromosomal microarray. The indications for the whole-exome sequencing test for pregnant women may need further discussion.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1660209","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T16:04:52Z","timestamp":1774368292000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Unexpected perinatal death caused by an occult MTM1 mutation: a case report"],"prefix":"10.3389","volume":"13","author":[{"given":"Man-Man","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education","place":["Chengdu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Mei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education","place":["Chengdu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Cheng","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education","place":["Chengdu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education","place":["Chengdu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Rong","family":"Qie","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education","place":["Chengdu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Wei","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University","place":["Chengdu, China"]},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education","place":["Chengdu, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,24]]},"reference":[{"key":"ref1","first-page":"1","article-title":"Cause-of-death data from thve fetal death file, 2018-2020","volume":"71","author":"Hoyert","year":"2022","journal-title":"Natl Vital Stat Rep"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1505","DOI":"10.1093\/hmg\/6.9.1505","article-title":"Mutations in the Mtm1 gene implicated in X-linked myotubular myopathy. Enmc international consortium on myotubular myopathy. 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