{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T19:01:28Z","timestamp":1792177288980,"version":"4.4.0"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,25]],"date-time":"2023-03-25T00:00:00Z","timestamp":1679702400000},"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":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The aim of this study was to\u00a0determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). This was a systematic review conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta\u2010Analyses guidelines. Selected studies included those with (a) only fetuses with FGR in the absence of fetal structural anomalies and (b) negative CMA or karyotyping results. Only positive variants classified as likely pathogenic or pathogenic determined as causative of the fetal phenotype were considered. A negative CMA or karyotype result was treated as the reference standard. Eight studies with data on ES diagnostic yield, including 146 fetuses with isolated FGR, were identified. Overall, a pathogenic variant determined as potentially causative of the fetal phenotype was found in 17 cases, resulting in a 12% (95% CI: 7%\u201318%) incremental performance pool of ES. The vast majority were studied before 32 weeks'gestation. In conclusion, a monogenic disorder was prenatally found in association with apparently isolated FGR in 12% of these fetuses.<\/jats:p>","DOI":"10.1002\/pd.6339","type":"journal-article","created":{"date-parts":[[2023,3,4]],"date-time":"2023-03-04T08:23:21Z","timestamp":1677918201000},"page":"596-604","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta\u2010analysis"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5740-4415","authenticated-orcid":false,"given":"Montse","family":"Pauta","sequence":"first","affiliation":[{"name":"BCNatal Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)  Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4711-3857","authenticated-orcid":false,"given":"Raigam J.","family":"Martinez\u2010Portilla","sequence":"additional","affiliation":[{"name":"Clinical Research Branch Evidence\u2010Based Medicine Department National Institute of Perinatology  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5975-9834","authenticated-orcid":false,"given":"Eva","family":"Meler","sequence":"additional","affiliation":[{"name":"Barcelona Centre for Maternal\u2010Fetal and Neonatal Medicine (BCNatal) Hospital Cl\u00ednic Barcelona  Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Ota\u00f1o","sequence":"additional","affiliation":[{"name":"Barcelona Centre for Maternal\u2010Fetal and Neonatal Medicine (BCNatal) Hospital Cl\u00ednic Barcelona  Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4304-4797","authenticated-orcid":false,"given":"Antoni","family":"Borrell","sequence":"additional","affiliation":[{"name":"BCNatal Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)  Barcelona Catalonia Spain"},{"name":"Barcelona Centre for Maternal\u2010Fetal and Neonatal Medicine (BCNatal) Hospital Cl\u00ednic Barcelona  Barcelona Catalonia Spain"},{"name":"Departament de Cirurgia i Especialitats Medicoquir\u00fargiques Facultat de Medicina i\u00a0Ci\u00e8ncies de la Salut. Universitat de Barcelona  Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2020.05.010"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.22134"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000353631"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5635"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2010.08.009"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2001.116686"},{"issue":"76","key":"e_1_2_8_8_1","first-page":"168","article-title":"Clinical management guidelines for obstetrician \u2013 gynecologists","volume":"133","author":"ACOG Practice Bulletins","year":"2020","journal-title":"Obstet Gynecol"},{"key":"e_1_2_8_9_1","unstructured":"Royal College of Obstetricians and Gynecologists.The Investigation and Management of the Small\u2010for\u2010Gestational\u2010Age Fetus;2013."},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15884"},{"key":"e_1_2_8_11_1","unstructured":"isuog.org GUIDELINES ISUOG Practice Guidelines: Diagnosis and Management of Small\u2010for\u2010Gestational\u2010Age Fetus and Fetal Growth Restriction.2020."},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000452217"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000479506"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31940-8"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(18)32042\u20107"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.14053"},{"issue":"22","key":"e_1_2_8_17_1","first-page":"00802\u2010X","article-title":"Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? 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