{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:35:01Z","timestamp":1747146901528,"version":"3.40.5"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,9,30]],"date-time":"2019-09-30T00:00:00Z","timestamp":1569801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>With the increasing availability of noninvasive prenatal screening (NIPS) and high\u2010resolution ultrasound, more cases of sex discordance are being identified in routine clinical practice. This can be a source of much concern for families and clinicians. Knowledge about the limitations of NIPS and reasons for discordant results are critical for counseling parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims<\/jats:title><jats:p>Here, we present three cases from a single tertiary care referral center. We also review the literature to address potential limitations of NIPS in correctly identifying fetal sex chromosomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>After Institutional Review Board approval, cases of discordant fetal sex were identified using ICD\u20109 and ICD\u201010 codes. In addition, departmental counseling database and cytogenetics laboratory logbooks were reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our first case, a 37\u2010year\u2010old G4 P2012 underwent NIPS at 11 weeks gestation and Monosomy X (associated with Turner syndrome) was identified. Morphological sonographic assessment at 20 weeks gestation was consistent with a female fetus following an amniocentesis at 16 weeks that revealed normal 46, XX karyotype. During the third trimester, the patient was diagnosed with Stage IV invasive ductal carcinoma of the breast. Postnatal follow\u2010up of the neonate was consistent with a phenotypic female. In the second case, a 22\u2010year\u2010old G2 P1001 obese female underwent NIPS at 14 weeks gestation and normal 46, XY karyotype was identified. Morphological sonographic assessment at 20 weeks was not consistent with a male fetus. The patient declined invasive testing. Postnatally, the karyotype was 46, XX and the neonate was phenotypically female. The reason for the discordant results was not identified. In the third case, a 25\u2010year\u2010old G1 P0 obese female underwent NIPS at 13 weeks gestation and normal 46, XY karyotype was identified. Morphological sonographic assessment at 20 weeks was indeterminate; however, follow\u2010up at 24 weeks was consistent with a female fetus. The patient declined invasive prenatal testing. Postnatally, the karyotype was 46, XX, and the neonate was phenotypically female with uterus present on ultrasound. The reason for the discordant results was not identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Our cases demonstrate possible limitations of NIPS in correctly identifying sex chromosomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Providers and patients need to be aware of these limitations, and invasive diagnostic prenatal testing should be offered in cases of discordance between NIPS and sonographic sex assessment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1594","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T05:01:15Z","timestamp":1569906075000},"page":"339-349","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Fetal sex discordance between noninvasive prenatal screening results and sonography: A single institution's experience and review of the literature"],"prefix":"10.1002","volume":"112","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5645-0348","authenticated-orcid":false,"given":"Kendra R.","family":"Sylvester\u2010Armstrong","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Florida College of Medicine  Gainesville Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja A.","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida College of Medicine  Gainesville Florida"},{"name":"Department of Epidemiology College of Health and Health Professions, University of Florida College of Medicine  Gainesville Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massoud","family":"Shoraka","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Florida College of Medicine  Gainesville 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