{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T21:46:27Z","timestamp":1780523187833,"version":"3.54.1"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T00:00:00Z","timestamp":1703548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>To report two novel <jats:italic>TTN<\/jats:italic> variants associated with fetal recessive titinopathy, thereby broadening the range of <jats:italic>TTN<\/jats:italic> variants that can lead to titinopathy. Clinical information on the fetus and parents was gathered, and genomic DNAs were extracted from the fetal tissue and family members' peripheral blood samples. Exome sequencing on fetal DNA was performed and following bioinformatics analysis, the suspected pathogenic variants were confirmed through Sanger sequencing. Prenatal ultrasound performed at 29\u00a0weeks of gestation revealed hydrops fetalis, decreased fetal movements, multiple joint contractures and polyhydramnios. Intrauterine fetal death was noted in the third trimester. Exome sequencing revealed compound heterozygous variants in the <jats:italic>TTN<\/jats:italic> gene: a paternally inherited allele c.101227C&gt;T (p.Arg33743Ter) and a maternally inherited c.104254C&gt;T (p.Gln34752Ter) allele. These variants have not been previously reported and are evaluated to be likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. We report a fetus with hydrops fetalis and arthrogryposis multiplex congenita associated with a compound heterozygote in the <jats:italic>TTN<\/jats:italic> gene. Our report broadens the clinical and genetic spectrum associated with the <jats:italic>TTN<\/jats:italic>\u2010related conditions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6491","type":"journal-article","created":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T01:04:47Z","timestamp":1703639087000},"page":"81-87","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic truncating <i>TTN<\/i> variants in M\u2010band encoding exons cause a fetal lethal titinopathy"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0912-3408","authenticated-orcid":false,"given":"Ming\u2010wei","family":"Li","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui University of Science and Technology  Huainan Anhui 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