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The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder. Recognition of prenatal findings that should raise a suspicion of PKS is complicated by the fragmentation of data currently available in the literature and challenges in diagnosing a mosaic diagnosis on prenatal testing. Ultrasound anomalies, especially congenital diaphragmatic hernia, congenital heart defects, and rhizomelic limb shortening, have been related to PKS, but they are singularly not specific and are not present in all affected fetuses. We have combined prenatal data from 86 previously published reports and from our cohort of 114 PKS probands (retrospectively reviewed). Summarizing this data we have defined a prenatal growth profile and identified markers of perinatal outcome which collectively provide guidelines for early recognition of the distinctive prenatal profile and consideration of a diagnosis of PKS as well as for management and genetic counseling.<\/jats:p>","DOI":"10.1002\/ajmg.a.40499","type":"journal-article","created":{"date-parts":[[2018,10,6]],"date-time":"2018-10-06T09:35:27Z","timestamp":1538818527000},"page":"2575-2586","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Prenatal profile of Pallister\u2010Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5003-1396","authenticated-orcid":false,"given":"E","family":"Salzano","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SE","family":"Raible","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Kaur","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Wilkens","sequence":"additional","affiliation":[{"name":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Sperti","sequence":"additional","affiliation":[{"name":"Neonatology Unit, St. Orsola\u2010Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC) University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RK","family":"Tilton","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LR","family":"Bettini","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Della Salute San Paolo Hospital Medical School, Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Rocca","sequence":"additional","affiliation":[{"name":"Neonatology Unit, St. Orsola\u2010Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC) University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Cocchi","sequence":"additional","affiliation":[{"name":"Neonatology Unit, St. Orsola\u2010Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC) University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Selicorni","sequence":"additional","affiliation":[{"name":"UOC Pediatria, ASST Lariana  Como Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LK","family":"Conlin","sequence":"additional","affiliation":[{"name":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"},{"name":"Department of Pathology, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"McEldrew","sequence":"additional","affiliation":[{"name":"Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Maharaja Agrasen Hospital, Delhi &amp; 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