The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing
Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2015/813104 |
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| author | Giuseppina Rapacchia Cristina Lapucci Maria Carla Pittalis Aly Youssef Antonio Farina |
| author_facet | Giuseppina Rapacchia Cristina Lapucci Maria Carla Pittalis Aly Youssef Antonio Farina |
| author_sort | Giuseppina Rapacchia |
| collection | DOAJ |
| description | Panorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks’ gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification) and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition. |
| format | Article |
| id | doaj-art-9f2e5c9a6c424a5a84ac755c1d308f48 |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-9f2e5c9a6c424a5a84ac755c1d308f482025-02-03T07:26:18ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922015-01-01201510.1155/2015/813104813104The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal TestingGiuseppina Rapacchia0Cristina Lapucci1Maria Carla Pittalis2Aly Youssef3Antonio Farina4Department of Medicine and Surgery (DIMEC), Division of Obstetrics and Gynecology, University of Bologna, Via Massarenti 13, 40138 Bologna, ItalyGeneticlab, Via Corte Ferrighi 16, Noventa Vicentina, 36025 Vicenza, ItalyDepartment of Medicine and Surgery (DIMEC), Division of Obstetrics and Gynecology, University of Bologna, Via Massarenti 13, 40138 Bologna, ItalyDepartment of Medicine and Surgery (DIMEC), Division of Obstetrics and Gynecology, University of Bologna, Via Massarenti 13, 40138 Bologna, ItalyDepartment of Medicine and Surgery (DIMEC), Division of Obstetrics and Gynecology, University of Bologna, Via Massarenti 13, 40138 Bologna, ItalyPanorama Plus (Natera), a single-nucleotide polymorphism- (SNP-) based approach that relies on the identification of maternal and fetal allele distributions, allows the detection of common aneuploidies and also incorporates a panel of 5 microdeletions including Di George syndrome. We report here the first case of Di George syndrome detected by NIPT in Italy; blood was drawn at 12 weeks’ gestation. The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification) and an ultrasound aimed to detect the features associated with the syndrome. A right aortic arch and suspect of thymus atrophy were detected, but not other severe malformations typical of the disease. The patient terminated the pregnancy at 17 weeks. NIPT allowed an early screening of Di George syndrome. As the patient was at low risk, it is likely that an ultrasound would have missed the condition.http://dx.doi.org/10.1155/2015/813104 |
| spellingShingle | Giuseppina Rapacchia Cristina Lapucci Maria Carla Pittalis Aly Youssef Antonio Farina The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing Case Reports in Obstetrics and Gynecology |
| title | The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing |
| title_full | The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing |
| title_fullStr | The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing |
| title_full_unstemmed | The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing |
| title_short | The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing |
| title_sort | first case report in italy of di george syndrome detected by noninvasive prenatal testing |
| url | http://dx.doi.org/10.1155/2015/813104 |
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