Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review
Abstract Background PWS is challenging to diagnose prenatally due to a lack of precise and well‐characterized fetal phenotypes and noninvasive markers. Here we present the case of prenatal diagnosis of Prader‐Willi syndrome, which was suspected with whole‐genome NIPS. Methods Whole‐genome noninvasiv...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-10-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1448 |
| _version_ | 1797300991720161280 |
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| author | Jekaterina Shubina Ilya Y. Barkov Olga K. Stupko Maria V. Kuznetsova Andrey Y. Goltsov Taisya O. Kochetkova Dmitry Y. Trofimov Gennady T. Sukhikh |
| author_facet | Jekaterina Shubina Ilya Y. Barkov Olga K. Stupko Maria V. Kuznetsova Andrey Y. Goltsov Taisya O. Kochetkova Dmitry Y. Trofimov Gennady T. Sukhikh |
| author_sort | Jekaterina Shubina |
| collection | DOAJ |
| description | Abstract Background PWS is challenging to diagnose prenatally due to a lack of precise and well‐characterized fetal phenotypes and noninvasive markers. Here we present the case of prenatal diagnosis of Prader‐Willi syndrome, which was suspected with whole‐genome NIPS. Methods Whole‐genome noninvasive prenatal screening showed a high risk for trisomy 15. Amniocentesis followed by FISH analysis and SNP‐based chromosomal microarray was performed. Results Simultaneous analysis of maternal and fetal samples with SNP microarrays demonstrated maternal uniparental disomy (UPD). Conclusion The presented case is the first case of PWS described in detail, which was suspected by NIPS results. It demonstrates that the choice of confirmation methods concerning the time needed is crucial for the right diagnosis. We suppose that prenatal testing of UPD is essential for chromosome regions, which play a key role in the appearance of various gene‐imprinting failure syndromes like PWS or AS. |
| first_indexed | 2024-03-07T23:14:59Z |
| format | Article |
| id | doaj.art-56a5d6807763434d9ebe6ac65825c5e6 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:14:59Z |
| publishDate | 2020-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-56a5d6807763434d9ebe6ac65825c5e62024-02-21T12:03:04ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-10-01810n/an/a10.1002/mgg3.1448Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature reviewJekaterina Shubina0Ilya Y. Barkov1Olga K. Stupko2Maria V. Kuznetsova3Andrey Y. Goltsov4Taisya O. Kochetkova5Dmitry Y. Trofimov6Gennady T. Sukhikh7Federal State Budget Institution “National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov” Moscow RussiaFederal State Budget Institution “National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov” Moscow RussiaFederal State Budget Institution “National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov” Moscow RussiaFederal State Budget Institution “National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov” Moscow RussiaFederal State Budget Institution “National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov” Moscow RussiaFederal State Budget Institution “National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov” Moscow RussiaFederal State Budget Institution “National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov” Moscow RussiaFederal State Budget Institution “National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov” Moscow RussiaAbstract Background PWS is challenging to diagnose prenatally due to a lack of precise and well‐characterized fetal phenotypes and noninvasive markers. Here we present the case of prenatal diagnosis of Prader‐Willi syndrome, which was suspected with whole‐genome NIPS. Methods Whole‐genome noninvasive prenatal screening showed a high risk for trisomy 15. Amniocentesis followed by FISH analysis and SNP‐based chromosomal microarray was performed. Results Simultaneous analysis of maternal and fetal samples with SNP microarrays demonstrated maternal uniparental disomy (UPD). Conclusion The presented case is the first case of PWS described in detail, which was suspected by NIPS results. It demonstrates that the choice of confirmation methods concerning the time needed is crucial for the right diagnosis. We suppose that prenatal testing of UPD is essential for chromosome regions, which play a key role in the appearance of various gene‐imprinting failure syndromes like PWS or AS.https://doi.org/10.1002/mgg3.1448NIPSPrader‐Willi syndromerare trisomytrisomy 15UPD |
| spellingShingle | Jekaterina Shubina Ilya Y. Barkov Olga K. Stupko Maria V. Kuznetsova Andrey Y. Goltsov Taisya O. Kochetkova Dmitry Y. Trofimov Gennady T. Sukhikh Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review Molecular Genetics & Genomic Medicine NIPS Prader‐Willi syndrome rare trisomy trisomy 15 UPD |
| title | Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review |
| title_full | Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review |
| title_fullStr | Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review |
| title_full_unstemmed | Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review |
| title_short | Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review |
| title_sort | prenatal diagnosis of prader willi syndrome due to uniparental disomy with nips case report and literature review |
| topic | NIPS Prader‐Willi syndrome rare trisomy trisomy 15 UPD |
| url | https://doi.org/10.1002/mgg3.1448 |
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