{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:55Z","timestamp":1787028235134,"version":"build-2736575974"},"reference-count":78,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T00:00:00Z","timestamp":1672963200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by genetic testing of chorionic villi or amniocytes using a chromosomal microarray will detect clinically relevant microdeletions. Screening options include noninvasive prenatal screening (NIPS) and imaging. The potential benefits and limitations of each screening method should be clearly conveyed. NIPS, a genetic option available from 10 weeks gestational age, has a 70\u201383% detection rate and a 40\u201350% PPV for most associated 22q11.2 microdeletions. Prenatal imaging, usually by ultrasound, can detect several physical features associated with 22q11.2DS. Findings vary, related to detection methods, gestational age, and relative specificity. Conotruncal cardiac anomalies are more strongly associated than skeletal, urinary tract, or other congenital anomalies such as thymic hypoplasia or cavum septi pellucidi dilatation. Among others, intrauterine growth restriction and polyhydramnios are additional associated, prenatally detectable signs. Preconception genetic counselling should be offered to males and females with 22q11.2DS, as there is a 50% risk of transmission in each pregnancy. A previous history of a de novo 22q11.2 microdeletion conveys a low risk of recurrence. Prenatal genetic counselling includes an offer of screening or diagnostic testing and discussion of results. The goal is to facilitate optimal perinatal care.<\/jats:p>","DOI":"10.3390\/genes14010160","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T02:31:30Z","timestamp":1673231490000},"page":"160","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6655-2444","authenticated-orcid":false,"given":"Natalie","family":"Blagowidow","sequence":"first","affiliation":[{"name":"Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beata","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Cytogenetic Laboratory, Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Schindewolf","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnosis and Treatment and the 22q and You Center, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Romana","family":"Grati","sequence":"additional","affiliation":[{"name":"R&D Department, Menarini Biomarkers Singapore, Via Giuseppe di Vittorio 21\/b3, 40013 Castel Maggiore, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3778-3769","authenticated-orcid":false,"given":"Carolina","family":"Putotto","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome (Italy), Viale del Policlinico 155, 00161 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Breckpot","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Swillen","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3272-5458","authenticated-orcid":false,"given":"Terrence Blaine","family":"Crowley","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, The 22q and You Center, and Clinical Genetics Center, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8429-6109","authenticated-orcid":false,"given":"Joanne C. Y.","family":"Loo","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren A.","family":"Lairson","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, The 22q and You Center, and Clinical Genetics Center, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6029-8844","authenticated-orcid":false,"given":"S\u00f3lveig","family":"\u00d3skarsd\u00f3ttir","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden"},{"name":"Department of Paediatrics, Queen Silva Children\u2019s Hospital, 416 50 Gothenburg, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0593-1539","authenticated-orcid":false,"given":"Erik","family":"Boot","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada"},{"name":"Advisium\u2019s Heeren Loo, Berkenweg 11, 3818 LA Amersfoort, The Netherlands"},{"name":"Department of Psychiatry and Neuropsychology, Maastricht University, 6211 LK Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sixto","family":"Garcia-Minaur","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cristina Digilio","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Ospedale Pediatrico Bambino Ges\u00f9, IRCCS, 00163 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[{"name":"Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome (Italy), Viale del Policlinico 155, 00161 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly","family":"Coleman","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnosis and Treatment and the 22q and You Center, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Department of Radiology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie S.","family":"Moldenhauer","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnosis and Treatment and the 22q and You Center, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Department of Obstetrics, Gynecology, and Surgery, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0681-7279","authenticated-orcid":false,"given":"Anne S.","family":"Bassett","sequence":"additional","affiliation":[{"name":"The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada"},{"name":"Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, and Department of Psychiatry, University of Toronto, Toronto, ON M5S 2S1, Canada"},{"name":"Division of Cardiology, Department of Medicine, and Centre for Mental Health, and Toronto General Hospital Research Institute, University Health Network, Toronto, ON M5G 2N2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4077-250X","authenticated-orcid":false,"given":"Donna M.","family":"McDonald-McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, The 22q and You Center, and Clinical Genetics Center, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Department of Human Biology and Medical Genetics, Sapienza University, 00185 Roma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 Deletion Syndrome","volume":"1","author":"Sullivan","year":"2015","journal-title":"Nat. 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