{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T22:48:52Z","timestamp":1788821332987,"version":"build-2803163510"},"reference-count":27,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,12,29]],"date-time":"2024-12-29T00:00:00Z","timestamp":1735430400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>Background: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test\u2019s usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value. Our study is the first to describe NIPT integration in Bulgaria. We aimed to evaluate current trends in demand and referral, the frequency of high-risk results, cases of fetal sex discrepancies and their impacts, as well as commonly held misconceptions during genetic counseling. We also address issues and necessary general prophylaxis and prenatal care improvements. Methods: We performed a retrospective analysis on the pregnant women who received GC for NIPT in our genetic center between 2016 and 2023. We separated this period into two due to a significant difference in the test\u2019s price. A total of 635 women were included with their referral indications, panel width preference, fetal sex, and SCA. We assessed cases of fetal sex discrepancy, high-risk pregnancies, late NIPT (after GW 18), and commonly occurring issues and misconceptions. Results: We observed a significant increase in the demand for NIPT\u201463 women for 2016\u20132020 versus 572 for 2021\u20132023. The leading indications were supervision of normal pregnancy (50.4%) and advanced maternal age (&gt;35 years) (31.2%). As for late NIPT, the most common indications for this late testing were high risk from a maternal serum screening test (33.3%) and anxiety (25%). Further, 1.1% of results were high-risk for trisomy 18 and 21 and monosomy X. We reviewed two cases of fetal sex discrepancy (0.3%) and common misconceptions twice more during pre-test GC. Conclusions: This single-center experience shows that demand for NIPT is exponentially growing, especially as a normal pregnancy screening method. Delivering thorough education to the community and guaranteeing outstanding care during genetic counseling sessions is crucial for fostering informed decisions and overall well-being.<\/jats:p>","DOI":"10.3390\/medsci13010003","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T12:37:19Z","timestamp":1735648639000},"page":"3","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["NIPT Integration as a Patient-Paid Prenatal Screening Option\u2014Observations and Challenges from a Bulgarian Genetic Counseling Center"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3410-5033","authenticated-orcid":false,"given":"Dinnar","family":"Yahya","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria"},{"name":"Laboratory of Medical Genetics, UMHAT St. Marina, Hristo Smirnenski blv 1, 9000 Varna, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8847-4651","authenticated-orcid":false,"given":"Mari","family":"Hachmeriyan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria"},{"name":"Laboratory of Medical Genetics, UMHAT St. Marina, Hristo Smirnenski blv 1, 9000 Varna, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Stoyanova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria"},{"name":"Laboratory of Medical Genetics, UMHAT St. Marina, Hristo Smirnenski blv 1, 9000 Varna, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9358-7263","authenticated-orcid":false,"given":"Mariya","family":"Levkova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria"},{"name":"Laboratory of Medical Genetics, UMHAT St. Marina, Hristo Smirnenski blv 1, 9000 Varna, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"113","DOI":"10.2147\/IJWH.S67124","article-title":"Non-invasive prenatal testing: A review of international implementation and challenges","volume":"7","author":"Allyse","year":"2015","journal-title":"Int. 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