{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T06:11:53Z","timestamp":1762409513020},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,12,13]],"date-time":"2018-12-13T00:00:00Z","timestamp":1544659200000},"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":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Circulating cell\u2010free DNA, having no procedural risk of miscarriage, is the most suitable sample for a noninvasive prenatal testing (NIPT). Here we report on a boy, who came to our attention for hypotonia and psychomotor delay when he was 16 months old. During the pregnancy his mother performed a NIPT that resulted compatible with the presence of trisomy 18. A confirmatory invasive procedure has been proposed, but not performed, because the family preferred to follow a conservative line. A series of ultrasound excluded the presence of any major malformations. Genetic tests, performed after birth, revealed the presence of a tetrasomy 18p with an extra isochromosome 18p. Our report wants to underline the importance of an invasive procedure and consequent cytogenetic analysis in case of NIPT results indicating autosomal trisomies because under it may hide the presence of other structural chromosomal anomalies. These conditions are normally not visible at prenatal ultrasound or using combined test (CT) and the only identifiable not invasive sign could be the results of high risk at NIPT.<\/jats:p>","DOI":"10.1111\/jog.13873","type":"journal-article","created":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T05:39:23Z","timestamp":1544765963000},"page":"705-708","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test"],"prefix":"10.1111","volume":"45","author":[{"given":"Gianluca","family":"Tolva","sequence":"first","affiliation":[{"name":"Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosamaria","family":"Silipigni","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Fondazione IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aida","family":"Quarenghi","sequence":"additional","affiliation":[{"name":"Department of Woman, Mother and Neonate, Biomedical and Clinical Sciences School of Medicine University of Milan, Buzzi Children's Hospital, ASST FBF\u2010 Sacco  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Vergani","sequence":"additional","affiliation":[{"name":"Department of Medicine and Surgery University of Milano\u2010Bicocca, Fondazione MBBM, San Gerardo Hospital  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Guerneri","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Fondazione IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2017.02.007"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-81"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33597"},{"key":"e_1_2_6_5_1","first-page":"132","article-title":"Rare chromosomal disorder \u2013 Isochromosome 18p syndrome","volume":"6","author":"Plaiasu 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