{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T15:23:24Z","timestamp":1778772204758,"version":"3.51.4"},"reference-count":15,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Chromosomal anomalies are a recognized cause of stillbirth, accounting for 6\u201317% of the cases. As a diagnostic laboratory method in this setting, conventional karyotyping has two main drawbacks: the need for viable fetal cells in a dead fetus and its limited resolution as compared to alternative techniques. &lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; To assess the effectiveness of cytogenetic analysis in stillbirths between different testing methods and different sampled tissues. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; From 2011 to 2017, 145 stillborn fetuses (defined as fetal losses after 22 weeks) were delivered in our center. The stillbirth protocol includes genetic testing by means of a karyotype, QF-PCR, or chromosomal microarray analysis (CMA), depending on the presence of fetal structural anomalies and the study time period. The success rates were compared between tests and between different sampled tissues. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Consent was granted for cytogenetic analysis in 136 stillbirths. Test success rate was 100% (38\/38) for CMA independent of the sampled tissue, 99% (65\/66) for QF-PCR, and 66% (65\/98) for karyotyping. The success rate for karyotyping was 48% (69\/145) of the total tissues samples, showing great variation according to the tissue sampled: 83% (40\/48) in amniotic fluid, 78% (21\/27) in the placenta, 13% (7\/54) in fetal skin, and 6.3% (1\/16) in fetal blood. Four full or partial aneuploidies (trisomy 9, trisomy 22, tetrasomy 18p, and monosomy X) and 2 microdeletions (del2p16.3 and del1q13.2q13.4) were found, resulting in a 3.9% (4\/103) prevalence for full or partial aneuploidy and a 5.3% prevalence (2\/38) for submicroscopic abnormalities. &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; Amniotic fluid should be the preferred tissue source in the cytogenetic analysis of stillbirth due to its high success rate. Between tests, CMA is a preferable method because of its higher test success rate, independent of the sampled tissue, and higher diagnostic yield including chromosomal and submicroscopic anomalies.<\/jats:p>","DOI":"10.1159\/000505399","type":"journal-article","created":{"date-parts":[[2020,1,17]],"date-time":"2020-01-17T22:00:34Z","timestamp":1579298434000},"page":"315-320","source":"Crossref","is-referenced-by-count":6,"title":["Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype?"],"prefix":"10.1159","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2104-2387","authenticated-orcid":false,"given":"Borja","family":"Marqu\u00e8s","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leticia","family":"Benitez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Peguero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Madrigal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesc","family":"Figueras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4304-4797","authenticated-orcid":false,"given":"Antoni","family":"Borrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,1,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2006.11.041"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)62187-3"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2011.1823"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/GRF.0b013e3181ee2793"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/uog.20198"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14866"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1295"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e31816a4ee3"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33083"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159\/000361017"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3825"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1201569"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001937"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e31819e9ee2"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/505399","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/505399","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:38:21Z","timestamp":1745422701000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000505399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":15,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,4,7]]},"published-print":{"date-parts":[[2020,4,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000505399","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}