{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T17:11:28Z","timestamp":1793034688914,"version":"4.5.0"},"reference-count":34,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T00:00:00Z","timestamp":1745971200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Center of Genetics and Reproductive Medicine \u201cGenetico\u201d JSC"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Fetal abnormalities are major issues in prenatal medicine. They affect the predicted pregnancy outcome and entail a risk of future recurrent adverse events in a particular couple. In order to clarify the possible outcomes of a specific pregnancy and subsequent ones, it is of the utmost importance to determine the causes of observed fetal abnormalities. Routine laboratory techniques sometimes fail to identify their cause because they are mainly intended for the detection of chromosomal disorders. Over recent years, single-gene disorders have increasingly been regarded as probable causes of fetal abnormalities, and next-generation sequencing (NGS) technologies have been adopted to detect them. This article provides the findings of applying whole-exome sequencing (WES) for prenatal diagnosis. It is aimed at identifying the causes of various fetus abnormalities with a normal molecular karyotype. The diagnostic value of this technique is shown based on the completeness of clinical patterns, abnormality types, and the ability to simultaneously examine the fetus and the parents. Consequently, WES revealed causative variants in 27.27% of cases, which encourages the consideration of applying this technique as part of a state-of-the-art multiple congenital malformation prenatal diagnosis algorithm.<\/jats:p>","DOI":"10.3390\/genes16050547","type":"journal-article","created":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T08:28:11Z","timestamp":1746174491000},"page":"547","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Application of Whole-Exome Sequencing (WES) for Prenatal Determination of Causes of Fetal Abnormalities"],"prefix":"10.3390","volume":"16","author":[{"given":"Margarita","family":"Guseva","sequence":"first","affiliation":[{"name":"The Center of Genetics and Reproductive Medicine \u201cGenetico\u201d JSC, 119571 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalya","family":"Shirokova","sequence":"additional","affiliation":[{"name":"The Center of Genetics and Reproductive Medicine \u201cGenetico\u201d JSC, 119571 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Kapitonova","sequence":"additional","affiliation":[{"name":"The Center of Genetics and Reproductive Medicine \u201cGenetico\u201d JSC, 119571 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Gnetetskaya","sequence":"additional","affiliation":[{"name":"Clinic \u201cMother and Child\u201d Savelovskaya, 127015 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8732-0300","authenticated-orcid":false,"given":"Konstantin","family":"Blagodatskikh","sequence":"additional","affiliation":[{"name":"The Center of Genetics and Reproductive Medicine \u201cGenetico\u201d JSC, 119571 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Tarasova","sequence":"additional","affiliation":[{"name":"Clinic \u201cMother and Child\u201d Savelovskaya, 127015 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Kaimonov","sequence":"additional","affiliation":[{"name":"The Center of Genetics and Reproductive Medicine \u201cGenetico\u201d JSC, 119571 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Korbut","sequence":"additional","affiliation":[{"name":"The Center of Genetics and Reproductive Medicine \u201cGenetico\u201d JSC, 119571 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5604-2627","authenticated-orcid":false,"given":"Elizaveta","family":"Musatova","sequence":"additional","affiliation":[{"name":"The Center of Genetics and Reproductive Medicine \u201cGenetico\u201d JSC, 119571 Moscow, Russia"},{"name":"Federal State Budgetary Educational Institution, Further Professional Education \u201cRussian Medical Academy of Continuous Professional Education\u201d, the Ministry of Healthcare of the Russian Federation, 125993 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1111\/aogs.13037","article-title":"Detection of fetal abnormalities by second-trimester ultrasound screening in a non-selected population","volume":"96","author":"Rydberg","year":"2017","journal-title":"Acta Obstet. 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