{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:18:44Z","timestamp":1787894324116,"version":"build-2784847793"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T00:00:00Z","timestamp":1787875200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Advanced maternal age (AMA; &amp;gt;\u202f=\u202f35\u202fyears) is associated with increased fetal chromosomal risk and is an important indication for invasive prenatal diagnosis. This study evaluates karyotyping and chromosomal microarray analysis (CMA) findings among AMA pregnancies in Tamil Nadu, India.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this prospective observational study, 2,200 pregnant women aged \u226535\u202fyears who underwent amniocentesis between July 2020 and June 2021 were enrolled. Conventional karyotyping was performed in all cases. CMA was performed as a reflex or complementary test when predefined clinical or cytogenetic criteria were present, including ultrasound abnormalities, high-risk screening\/NIPT results, abnormal or uncertain karyotype findings, prior adverse pregnancy history suggestive of genetic etiology, parental chromosomal abnormalities, or patient request after counseling.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Numerical chromosomal abnormalities were detected in 76\/2200 cases (3.5%), and structural abnormalities were detected in 9\/2200 cases (0.4%). The total abnormal cytogenetic yield was therefore 85\/2200 cases (3.9%) when numerical and structural abnormalities were considered together. Age-stratified analysis showed an increasing trend in chromosomal abnormalities with advancing maternal age, reaching 10.4% in women aged &amp;gt;\u202f=\u202f43\u202fyears. Cases with additional clinical indications showed higher abnormality rates than simple AMA. CMA was performed in selected cases and contributed to characterization of clinically relevant genomic abnormalities, supporting its role in indicated high-risk AMA pregnancies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The Tamil Nadu cohort provides regional evidence on age-stratified cytogenetic risk in AMA pregnancies and supports the use of clearly defined criteria for integrating CMA with conventional karyotyping in prenatal diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1864106","type":"journal-article","created":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:33:37Z","timestamp":1787891617000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genomic risk profiling in advanced maternal age: a Tamil Nadu prenatal study"],"prefix":"10.3389","volume":"13","author":[{"given":"Sujithra","family":"Appavu","sequence":"first","affiliation":[{"name":"Department of Biotechnology, Sathyabama Institute of Science and Technology","place":["Chennai, Tamil Nadu, India"]},{"name":"Department of Cytogenetics, Life Cell International Private Ltd.","place":["Chennai, Tamil Nadu, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aruni Wilson Santhosh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Amity University","place":["Mumbai, Maharashtra, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mukinkumar","family":"Sonai","sequence":"additional","affiliation":[{"name":"Department of Biologics, Life Cell International Private Ltd.","place":["Chennai, Tamil Nadu, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinoth","family":"Appavu","sequence":"additional","affiliation":[{"name":"Department of Emergency Medicine, Thanjavur Medical College","place":["Thanjavur, Tamil Nadu, India"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"e46291","DOI":"10.7759\/cureus.46291","article-title":"Exploring the complex landscape of delayed childbearing: factors, history, and long-term implications","volume":"15","author":"Zabak","year":"2023","journal-title":"Cureus"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1136","DOI":"10.1016\/j.fertnstert.2015.03.004","article-title":"Reproduction at an advanced maternal age and maternal health","volume":"103","author":"Sauer","year":"2015","journal-title":"Fertil Steril"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1111\/aogs.13828","article-title":"Risk of adverse pregnancy outcomes of late- and postterm pregnancies in advanced maternal age: a national cohort study","volume":"99","author":"Kortekaas","year":"2020","journal-title":"Acta Obstet Gynecol Scand"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1016\/j.bpobgyn.2020.07.005","article-title":"Advanced maternal age and adverse pregnancy outcomes","volume":"70","author":"Frick","year":"2021","journal-title":"Best Pract Res Clin Obstet Gynaecol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"1365","DOI":"10.1007\/s00404-024-07678-w","article-title":"Advanced maternal age (AMA) and pregnancy: a feasible but problematic event","volume":"310","author":"Spari\u0107","year":"2024","journal-title":"Arch Gynecol Obstet"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1089\/jwh.2020.8860","article-title":"Clinical outcomes in high-risk pregnancies due to advanced maternal age","volume":"30","author":"Correa-de-Araujo","year":"2021","journal-title":"J Women's Health"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1186\/s12884-021-04027-6","article-title":"Analysis of the causes and influencing factors of fetal loss in advanced maternal age: a nested case-control study","volume":"21","author":"Wang","year":"2021","journal-title":"BMC Pregnancy Childbirth"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1111\/1471-0528.12659","article-title":"Advanced maternal age and pregnancy outcomes: a multicountry assessment","volume":"121","author":"Laopaiboon","year":"2014","journal-title":"BJOG"},{"key":"ref9","first-page":"281","article-title":"Advanced maternal age and outcomes of pregnancy: a retrospective study from South Africa","volume":"23","author":"Hoque","year":"2012","journal-title":"Biomed Res"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1108\/01443331311308267","article-title":"Socioeconomic development and fertility trends among the states of India","volume":"33","author":"Brinker","year":"2013","journal-title":"Int J Sociol Soc Policy"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"689","DOI":"10.2307\/1972469","article-title":"The causes of demographic change in rural South India: a micro approach","volume":"8","author":"Caldwell","year":"1982","journal-title":"Popul Dev Rev"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1097\/OGX.0000000000000119","article-title":"Chromosomal microarray analysis and prenatal diagnosis","volume":"69","author":"Lo","year":"2014","journal-title":"Obstet Gynecol Surv"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"1347942","DOI":"10.3389\/fgene.2024.1347942","article-title":"Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China","volume":"15","author":"Xue","year":"2024","journal-title":"Front Genet"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"784","DOI":"10.1186\/s12884-023-06052-z","article-title":"Chromosome microarray analysis combined with karyotype analysis is a powerful tool for detection in pregnant women with high-risk indicators","volume":"23","author":"Qian","year":"2023","journal-title":"BMC Pregnancy Childbirth"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"318","DOI":"10.21037\/atm.2019.06.63","article-title":"Assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study","volume":"7","author":"Shi","year":"2019","journal-title":"Ann Transl Med"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1055\/s-0036-1585410","article-title":"Advanced maternal age and the risk of major congenital anomalies","volume":"34","author":"Goetzinger","year":"2017","journal-title":"Am J Perinatol"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/1471-2350-7-4","article-title":"Influence of advanced age of maternal grandmothers on down syndrome","volume":"7","author":"Malini","year":"2006","journal-title":"BMC Med Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"2007","DOI":"10.3760\/cma.j.issn.0366-6999.20122345","article-title":"Genetic counseling, prenatal screening and diagnosis of down syndrome in the second trimester in women of advanced maternal age: a prospective study","volume":"126","author":"Jiang","year":"2013","journal-title":"Chin Med J"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1016\/S1472-6483(10)61057-7","article-title":"Maternal age, morphology, development and chromosome abnormalities in over 6000 cleavage-stage embryos","volume":"14","author":"Munn\u00e9","year":"2007","journal-title":"Reprod Biomed Online"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.26402\/jpp.2024.4.08","article-title":"Chromosomal analysis in pregnant women of advanced maternal age: indications for prenatal diagnosis","volume":"75","author":"Wang","year":"2024","journal-title":"J Physiol Pharmacol"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"e929074","DOI":"10.12659\/MSM.929074","article-title":"Clinical application of chromosomal microarray analysis in pregnant women with advanced maternal age and fetuses with ultrasonographic soft markers","volume":"27","author":"Hu","year":"2021","journal-title":"Med Sci Monit"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"3624","DOI":"10.3390\/jcm11133624","article-title":"Prenatal diagnosis using chromosomal microarray analysis in high-risk pregnancies","volume":"11","author":"Hsiao","year":"2022","journal-title":"J Clin Med"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1864106\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:33:45Z","timestamp":1787891625000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1864106\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,28]]},"references-count":22,"alternative-id":["10.3389\/fmed.2026.1864106"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2026.1864106","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,28]]},"article-number":"1864106"}}