{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:50:01Z","timestamp":1790520601582,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,3,1]],"date-time":"2020-03-01T00:00:00Z","timestamp":1583020800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Genetic testing is beneficial for patients and providers when in search of answers to medical problems related to the prenatal or early postnatal period. It can help to identify the cause or confirm a diagnosis associated with developmental delay, intellectual disability, dysmorphic features, heart defects, multiple malformations, short stature, stillbirth, neonatal death, or fertility problems. Genetic testing can be used to rule out single\u2010gene or chromosome abnormalities. Different diagnostic cytogenetic and molecular genetic techniques are applied in clinical genetics laboratories, from conventional ones to the state of the art chromosomal microarrays and next\u2010generation sequencing. Each of the genetic techniques or methods has its strengths and limitations, however different methods complement each\u2010other in trying to identify the genetic variation(s) responsible for a medical condition, especially the ones related to birth defects.<\/jats:p>","DOI":"10.1002\/bdr2.1648","type":"journal-article","created":{"date-parts":[[2020,3,2]],"date-time":"2020-03-02T05:58:42Z","timestamp":1583128722000},"page":"293-306","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects"],"prefix":"10.1002","volume":"112","author":[{"given":"Stela Z.","family":"Berisha","sequence":"first","affiliation":[{"name":"Center for Human Genetics University Hospitals Cleveland Medical Center  Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shashi","family":"Shetty","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Cleveland Medical Center  Cleveland Ohio"},{"name":"Department of Pathology Case Western Reserve University, University Hospitals  Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Prior","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Cleveland Medical Center  Cleveland Ohio"},{"name":"Department of Pathology Case Western Reserve University, University Hospitals  Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7856-2949","authenticated-orcid":false,"given":"Anna L.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Cleveland Medical Center  Cleveland Ohio"},{"name":"Department of Genetics and Genome Sciences Case Western Reserve University, University Hospitals  Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0193-4"},{"key":"e_1_2_7_3_1","first-page":"1085","article-title":"Diagnostic testing for prader\u2010willi and angelman syndromes: Report of the ashg\/acmg test and technology transfer committee","volume":"58","author":"American Society of Human Genetics\/American College of Medical Genetics Test and Technology transfer Committee","year":"1996","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22982"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1891\/0730-0832.37.1.42"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30273"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-14-6"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aat6177"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1058040"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.2144\/000113913"},{"key":"e_1_2_7_12_1","first-page":"S25","article-title":"Identification of a point mutation in smn1 gene causing spinal muscular atrophy: Implications for genetic counseling and prenatal diagnosis","volume":"181","author":"Dubsky De Wittenau G.","year":"2012","journal-title":"The American Journal of Pathology"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2016.07.016"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e318232a005"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-102209-163544"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/35066065"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31822c79f9"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5133"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mayocp.2015.12.018"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2018.01.005"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00004"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.003"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3245"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-7-S1-I32"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05329"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.92"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2017.10.001"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200105000-00011"},{"key":"e_1_2_7_33_1","doi-asserted-by":"crossref","unstructured":"South S. T. Lee C. Lamb A. N. Higgins A. W. &Kearney H. M.(2013).ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis including postnatal and prenatal applications: Revision 2013. Genetics in Medicine.https:\/\/doi.org\/10.1038\/gim.2013.129","DOI":"10.1038\/gim.2013.129"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms13033245"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.35"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1369\/0022155412440001"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2016-0501-RA"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1648","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/bdr2.1648","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.1648","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T02:31:39Z","timestamp":1694053899000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.1648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3]]},"references-count":37,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1002\/bdr2.1648"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.1648","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3]]},"assertion":[{"value":"2020-01-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}