{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T08:31:00Z","timestamp":1787041860407,"version":"build-2736575974"},"reference-count":17,"publisher":"Knowledge E DMCC","issue":"6","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":["knepublishing.com"],"crossmark-restriction":true},"short-container-title":["IJRM"],"abstract":"<jats:p>Background: One significant concern during pregnancy is the possibility of chromosomal malformations. While prenatal screenings are intended to reassure parents about the health of their unborn child, how reliable are these results when deemed suspicious?\r\nObjective: This study aimed to evaluate the predictive accuracy of non-invasive prenatal screening tests in comparison with amniocentesis as the gold standard diagnostic method for chromosomal abnormalities.\r\nMaterials and Methods: This retrospective descriptive-analytical study was performed using medical records of 490 pregnant women who underwent amniocentesis between 2018 and 2023. Data related to first- and second-trimester maternal serum screening results, ultrasound markers, and fetal karyotype findings were extracted and analyzed.\r\nResults: Among 490 pregnant women who underwent amniocentesis, 79 cases were suspected of chromosomal abnormalities based on combined first-trimester ultrasound criteria. Cytogenetic analysis confirmed abnormalities in only 20 of these suspected cases (25.3%). After excluding very low-risk results (\u2265 1:300), amniocentesis confirmed abnormalities in only 5.1% (12\/234) of first-trimester and 4.5% (7\/155) of second-trimester screen-positive cases. All comparisons between screening results and amniocentesis showed significant differences (p &lt; 0.05).\r\nConclusion: These findings suggest that a more appropriate clinical approach involves the integrated use of multiple screening tools combined with genetic counseling and clear communication for prenatal care, as well as using validated noninvasive methods such as non-invasive prenatal testing before amniocentesis, thus rationally supporting parents when making decisions. Ultimately, although amniocentesis remains the most accurate diagnostic tool, the goal should be to use all available methods judiciously to minimize unnecessary interventions and psychological harm.<\/jats:p>","DOI":"10.18502\/ijrm.v24i6.21461","type":"journal-article","created":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T08:06:32Z","timestamp":1787040392000},"update-policy":"https:\/\/doi.org\/10.18502\/knecrossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Accuracy of non-invasive prenatal screening compared with amniocentesis: A retrospective study"],"prefix":"10.18502","volume":"24","author":[{"given":"Elham","family":"Ghadirkhomi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arezu","family":"Norouzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7770","published-online":{"date-parts":[[2026,8,18]]},"reference":[{"key":"338792","doi-asserted-by":"crossref","unstructured":"[1] American College of Obstetricians and Gynecologists\u2019 Committee on Practice Bulletins-Obstetrics; Committee on Genetics, Society for Maternal-Fetal Medicine. Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226. Obstet Gynecol 2020; 136: e48-e69.","DOI":"10.1097\/AOG.0000000000004084"},{"key":"338793","doi-asserted-by":"crossref","unstructured":"[2] Frisova V. Prenatal screening for chromosomal defects. Reproductive Medicine 2025; 6: 15.","DOI":"10.3390\/reprodmed6020015"},{"key":"338794","doi-asserted-by":"crossref","unstructured":"[3] Gil MM, Galeva S, Jani J, Konstantinidou L, Akolekar R, Plana MN, et al. Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: Update of The Fetal Medicine Foundation results and meta-analysis. Ultrasound Obstet Gynecol 2019; 53: 734\u2013742.","DOI":"10.1002\/uog.20284"},{"key":"338795","doi-asserted-by":"crossref","unstructured":"[4] Scharf A. First trimester screening with biochemical markers and ultrasound in relation to non-invasive prenatal testing (NIPT). J Perinat Med 2021; 49: 990\u2013997.","DOI":"10.1515\/jpm-2021-0243"},{"key":"338796","doi-asserted-by":"crossref","unstructured":"[5] Belabbes KB, Tufanisco EB, Sheth CC. Cell-free fetal DNA for prenatal screening of aneuploidies and autosomal trisomies: A systematic review. Int J Pediatr 2024; 2024: 3037937.","DOI":"10.1155\/2024\/3037937"},{"key":"338797","doi-asserted-by":"crossref","unstructured":"[6] Daly R, Malone FD. First-and second-trimester screening for fetal aneuploidy and neural tube defects. In: Spong CY, Lock Wood ChJ. Queenan\u2019s management of high-risk pregnancy: An evidence-based approach. USA: John Wiley and Sons; 2024: 60\u201369.","DOI":"10.1002\/9781119636540.ch7"},{"key":"338798","unstructured":"[7] Russo ML, Mahoney R, Driscoll DA, Al-Kouatly H. Genetic screening and diagnosis. In: Landon MB, Galen HL, Javniavx ERM, Driscoll DA, Berghella V, Grobman WA, et al. Obstetrics: Normal and problem pregnancies. USA: Saunders Publisher; 2024: 228."},{"key":"338799","doi-asserted-by":"crossref","unstructured":"[8] Owen A. \u201cDo you want to know or not?\u201d How prenatal providers manage clinical uncertainty related to chromosomal risk and noninvasive prenatal testing. Health (London) 2026; 30: 329\u2013350.","DOI":"10.1177\/13634593251377111"},{"key":"338800","doi-asserted-by":"crossref","unstructured":"[9] Audibert F, Wou K, Okun N, De Bie I, Wilson RD. Guideline No. 456: Prenatal screening for fetal chromosomal anomalies. J Obstet Gynaecol Can 2024; 46: 102694.","DOI":"10.1016\/j.jogc.2024.102694"},{"key":"338801","doi-asserted-by":"crossref","unstructured":"[10] Edwards L, Hui L. First and second trimester screening for fetal structural anomalies. Semin Fetal Neonatal Med 2018; 23: 102\u2013111.","DOI":"10.1016\/j.siny.2017.11.005"},{"key":"338802","unstructured":"[11] Sucaldito MSFP, Besa JJV, Palileo-Villanueva LM. The diagnostic performance of nuchal translucency alone as a screening test for Down syndrome: A systematic review and meta-analysis. Acta Med Philipp 2025; 59: 7\u201323."},{"key":"338803","doi-asserted-by":"crossref","unstructured":"[12] Chudleigh J, Holder P. Psychosocial impact of false-positive newborn screening results: A scoping review. Children (Basel) 2024; 11: 507.","DOI":"10.3390\/children11050507"},{"key":"338804","doi-asserted-by":"crossref","unstructured":"[13] Moudi Z, Jam R, Ansari H, Montazer Zohour M. Effect of shared decision-making on anxiety of women recommended for prenatal screening tests in southeast of Iran. J Family Reprod Health 2020; 14: 192\u2013197.","DOI":"10.18502\/jfrh.v14i3.4673"},{"key":"338805","doi-asserted-by":"crossref","unstructured":"[14] Al Muteri T. Psychological impact of false-positive results in obstetric screening: A systematic review. Clin Exp Obstet Gynecol 2025; 52: 26696.","DOI":"10.31083\/CEOG26696"},{"key":"338806","doi-asserted-by":"crossref","unstructured":"[15] van der Meij KRM, van de Pol QYF, Bekker MN, Martin L, Gitsels-van der Wal J, van Vliet-Lachotzki EH, et al. Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program. Eur J Hum Genet 2023; 31: 555\u2013561.","DOI":"10.1038\/s41431-022-01248-x"},{"key":"338807","doi-asserted-by":"crossref","unstructured":"[16] Salomon LJ, Sotiriadis A, Wulff CB, Odibo A, Akolekar R. Risk of miscarriage following amniocentesis or chorionic villus sampling: Systematic review of literature and updated meta-analysis. Ultrasound Obstet Gynecol 2019; 54: 442\u2013451.","DOI":"10.1002\/uog.20353"},{"key":"338808","doi-asserted-by":"crossref","unstructured":"[17] Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, et al. Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies. Genet Med 2022; 24: 1379\u20131391.","DOI":"10.1016\/j.gim.2022.03.019"}],"container-title":["International Journal of Reproductive BioMedicine (IJRM)"],"original-title":[],"link":[{"URL":"https:\/\/knepublishing.com\/index.php\/ijrm\/article\/download\/21461\/32168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/knepublishing.com\/index.php\/ijrm\/article\/download\/21461\/32168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T08:18:45Z","timestamp":1787041125000},"score":1,"resource":{"primary":{"URL":"https:\/\/knepublishing.com\/index.php\/ijrm\/article\/view\/21461"},"secondary":[{"URL":"http:\/\/ijrm.ir\/article-1-3793-en.html","label":"UNIVERSITY"}]},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,18]]},"references-count":17,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,8,18]]}},"URL":"https:\/\/doi.org\/10.18502\/ijrm.v24i6.21461","relation":{},"ISSN":["2476-3772","2476-4108"],"issn-type":[{"value":"2476-3772","type":"electronic"},{"value":"2476-4108","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8,18]]}}}