{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:11:19Z","timestamp":1783487479149,"version":"3.55.0"},"reference-count":29,"publisher":"S.C. JURNALUL PENTRU MEDICINA SI VIATA S.R.L","issue":"3","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JMedLife"],"abstract":"<jats:p>The last decade has seen incredible advances in the genetic era, in next-generation sequencing of cell-free DNA in the maternal plasma, detecting abnormal fetal chromosomes. Non-invasive prenatal testing (NIPT) has showed increased sensitivity and specificity for Down syndrome superior to any other screening test. Technical advances have made possible the detection of other conditions which does not necessarily mean clinical benefit for the patient. Private laboratories have added multiple conditions in the panel of NIPT, but some of these abnormalities are so rare, that their prevalence is not even clear. Data regarding clinical performance of extended NIPT is lacking. Implementation of such a test has to be carefully weighed, and not only the benefits but also the harm should be taken into account.<\/jats:p>","DOI":"10.25122\/jml-2019-0053","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T05:39:40Z","timestamp":1573796380000},"page":"221-224","source":"Crossref","is-referenced-by-count":20,"title":["Non-Invasive Prenatal Testing beyond Trisomies"],"prefix":"10.25122","volume":"12","author":[{"given":"Ioan","family":"Dumitru Suciu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Department of General Surgery, Floreasca Emergency Hospital, Bucharest, Romania","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Carol Davila University of Medicine and Pharmacy, Bucharest, Romania","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oana","family":"Daniela Toader","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Carol Davila University of Medicine and Pharmacy, Bucharest, Romania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Department of Obstetrics and Gynecology, Alessandrescu-Rusescu Institute of Mother and Child Care, Bucharest, Romania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Slavyana","family":"Galeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Department of Obstetrics and Gynecology, Il Sagbal Sheynovo Hospital, Sofia, Brunei Darussalam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucian","family":"Pop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Department of Obstetrics and Gynecology, Alessandrescu-Rusescu Institute of Mother and Child Care, Bucharest, Romania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Lucian Pop, Department of Obstetrics and Gynecology, Alessandrescu-Rusescu Institute of Mother and Child Care, Bld. Lacul Tei 120, 2nd district, Bucharest, Romania, 020395, Tel.: +40741044720, E-mail: popluciangh@icloud.com","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10755","published-online":{"date-parts":[[2019,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Snijders, R.J., et al., UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet, 1998. 352(9125): p. 343\u20136.","DOI":"10.1016\/S0140-6736(97)11280-6"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Lo, Y.M., et al., Presence of fetal DNA in maternal plasma and serum. 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