Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing
Abstract We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation. With the increasing use of NIPT, more gender discordances can be identifi...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-10-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.2389 |
| _version_ | 1823931667767623680 |
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| author | Luigia De Falco Giovanni Savarese Teresa Suero Sonia Amabile Raffaella Ruggiero Pasquale Savarese Antonio Fico |
| author_facet | Luigia De Falco Giovanni Savarese Teresa Suero Sonia Amabile Raffaella Ruggiero Pasquale Savarese Antonio Fico |
| author_sort | Luigia De Falco |
| collection | DOAJ |
| description | Abstract We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation. With the increasing use of NIPT, more gender discordances can be identified prenatally and be amenable to early therapy. |
| first_indexed | 2024-12-16T21:42:03Z |
| format | Article |
| id | doaj.art-eab8f6c5b34b477296ad893143dffccc |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-16T21:42:03Z |
| publishDate | 2019-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-eab8f6c5b34b477296ad893143dffccc2022-12-21T22:15:14ZengWileyClinical Case Reports2050-09042019-10-017101977198110.1002/ccr3.2389Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testingLuigia De Falco0Giovanni Savarese1Teresa Suero2Sonia Amabile3Raffaella Ruggiero4Pasquale Savarese5Antonio Fico6AMES, Centro Polidiagnostico Strumentale Srl Naples ItalyAMES, Centro Polidiagnostico Strumentale Srl Naples ItalyAMES, Centro Polidiagnostico Strumentale Srl Naples ItalyDepartment of Molecular Medicine and Medical Biotechnology University of Naples "Federico II" Naples ItalyAMES, Centro Polidiagnostico Strumentale Srl Naples ItalyAMES, Centro Polidiagnostico Strumentale Srl Naples ItalyAMES, Centro Polidiagnostico Strumentale Srl Naples ItalyAbstract We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation. With the increasing use of NIPT, more gender discordances can be identified prenatally and be amenable to early therapy.https://doi.org/10.1002/ccr3.2389aneuploidiescirculating cell‐free fetal DNAnon‐invasive prenatal testingsex discordance |
| spellingShingle | Luigia De Falco Giovanni Savarese Teresa Suero Sonia Amabile Raffaella Ruggiero Pasquale Savarese Antonio Fico Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing Clinical Case Reports aneuploidies circulating cell‐free fetal DNA non‐invasive prenatal testing sex discordance |
| title | Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing |
| title_full | Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing |
| title_fullStr | Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing |
| title_full_unstemmed | Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing |
| title_short | Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing |
| title_sort | detection of sry positive46 xx male syndrome by the analysis of cell free fetal dna via non invasive prenatal testing |
| topic | aneuploidies circulating cell‐free fetal DNA non‐invasive prenatal testing sex discordance |
| url | https://doi.org/10.1002/ccr3.2389 |
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