{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T07:20:54Z","timestamp":1779175254101,"version":"3.51.4"},"reference-count":36,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T00:00:00Z","timestamp":1639094400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Severe congenital myopathy with fatal cardiomyopathy (EOMFC) is a rare genetic neuromuscular disorder inherited in an autosomal recessive manner. Here we presented a successful pregnancy obtained by in vitro fertilization (IVF) using preimplantation genetic testing (PGT) in one young Romanian carrier couple that already lost mutation(s) within the TNN gene and whose first baby passed away due to multiple complications. It was delivered via emergency C-section at 36 weeks and fully dependent on artificial ventilation for a couple of months, weighing 2200 g and an APGAR score of 3. The aCGH + SNP analysis revealed an abnormal profile of the first newborn; three areas associated with loss of heterozygosity on chromosome 1 (q25.1\u2013q25.3) of 6115 kb, 5 (p15.2\u2013p15.1) of 2589 kb and 8 (q11.21\u2013q11.23) of 4830 kb, a duplication of 1104 kb on chromosome 10 in the position q11.22, and duplication of 1193 kb on chromosome 16 in the position p11.2p11.1. Subsequently, we proceeded to test the parents and showed that both parents are carriers; confirmed by Sanger and NGS sequencing\u2014father\u2014on Chr2(GRCh37):g.179396832_179396833del\u2014TTN variant c.104509_104510del p.(Leu34837Glufs*12)\u2014exon 358 and mother\u2014on Chr2(GRCh37):g.179479653G&gt;C\u2014TTN variant c.48681C&gt;G p.(Tyr16227*)\u2014exon 260. Their first child died shortly after birth due to multiple organ failures, possessing both parent\u2019s mutations; weighing 2200 g at birth and received an APGAR score of 3 following premature delivery via emergency C-section at 36 weeks. Two embryos were obtained following the IVF protocol; one possessed the mother\u2019s mutation, and the other had no mutations and was normal (WT). In contrast with the first birth, the second one was uneventful. A healthy female baby weighing 2990 g was delivered by C-section at 38 weeks, receiving an APGAR score of 9.<\/jats:p>","DOI":"10.3390\/diagnostics11122328","type":"journal-article","created":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T01:28:11Z","timestamp":1639358891000},"page":"2328","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["In Vitro Fertilization Using Preimplantation Genetic Testing in a Romanian Couple Carrier of Mutations in the TTN Gene: A Case Report and Literature Review"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6618-141X","authenticated-orcid":false,"given":"Bogdan","family":"Doroftei","sequence":"first","affiliation":[{"name":"Department of Mother and Child Medicine, Faculty of Medicine, University of Medicine and Pharmacy \u201cGrigore T. Popa\u201d, University Street, No. 16, 700115 Iasi, Romania"},{"name":"Clinical Hospital of Obstetrics and Gynecology \u201cCuza Voda\u201d, Cuza Voda Street, No. 34, 700038 Iasi, Romania"},{"name":"Origyn Fertility Center, Palace Street, No. 3C, 700032 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radu","family":"Maftei","sequence":"additional","affiliation":[{"name":"Department of Mother and Child Medicine, Faculty of Medicine, University of Medicine and Pharmacy \u201cGrigore T. Popa\u201d, University Street, No. 16, 700115 Iasi, Romania"},{"name":"Clinical Hospital of Obstetrics and Gynecology \u201cCuza Voda\u201d, Cuza Voda Street, No. 34, 700038 Iasi, Romania"},{"name":"Origyn Fertility Center, Palace Street, No. 3C, 700032 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4023-1765","authenticated-orcid":false,"given":"Ovidiu-Dumitru","family":"Ilie","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Biology, \u201cAlexandru Ioan Cuza\u201d University, Carol I Avenue, No. 20A, 700505 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theodora","family":"Armeanu","sequence":"additional","affiliation":[{"name":"Department of Mother and Child Medicine, Faculty of Medicine, University of Medicine and Pharmacy \u201cGrigore T. Popa\u201d, University Street, No. 16, 700115 Iasi, Romania"},{"name":"Clinical Hospital of Obstetrics and Gynecology \u201cCuza Voda\u201d, Cuza Voda Street, No. 34, 700038 Iasi, Romania"},{"name":"Origyn Fertility Center, Palace Street, No. 3C, 700032 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Puiu","sequence":"additional","affiliation":[{"name":"Department of Microscopic Morphology, Faculty of Medicine, University of Medicine and Pharmacy \u201cVictor Babe\u0219\u201d, Eftimie Murgu Square, No. 2, 300041 Timi\u0219oara, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5372-9901","authenticated-orcid":false,"given":"Iuliu","family":"Ivanov","sequence":"additional","affiliation":[{"name":"Molecular Diagnostic Department, Regional Oncology Institute, General Henri Mathias Berthelot Street, No. 2\u20134, 700483 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4421-3094","authenticated-orcid":false,"given":"Loredana","family":"Nemtanu","sequence":"additional","affiliation":[{"name":"Origyn Fertility Center, Palace Street, No. 3C, 700032 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1212\/WNL.56.7.869","article-title":"Secondary calpain3 deficiency in 2q-linked muscular dystrophy","volume":"56","author":"Haravuori","year":"2001","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1086\/342380","article-title":"Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin","volume":"71","author":"Hackman","year":"2002","journal-title":"Am. 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