Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes
Nasal bone hypoplasia is associated with a trisomy of chromosome 21, 18 or 13. Nasal bone hypoplasia can also be seen in other, rarer genetic syndromes. The aim of the study was to evaluate the potential of nasal bone hypoplasia, in the second trimester of pregnancy, as a marker of fetal facial dysm...
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| Format: | Article |
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MDPI AG
2022-03-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/6/1513 |
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| author | Hanna Moczulska Marcin Serafin Katarzyna Wojda Maciej Borowiec Piotr Sieroszewski |
| author_facet | Hanna Moczulska Marcin Serafin Katarzyna Wojda Maciej Borowiec Piotr Sieroszewski |
| author_sort | Hanna Moczulska |
| collection | DOAJ |
| description | Nasal bone hypoplasia is associated with a trisomy of chromosome 21, 18 or 13. Nasal bone hypoplasia can also be seen in other, rarer genetic syndromes. The aim of the study was to evaluate the potential of nasal bone hypoplasia, in the second trimester of pregnancy, as a marker of fetal facial dysmorphism, associated with pathogenic copy number variation (CNV). This retrospective analysis of the invasive tests results in fetuses with nasal bone hypoplasia, after excluding those with trisomy 21, 18 and 13. In total, 60 cases with nasal bone hypoplasia were analyzed. Chromosomal aberrations were found in 7.1% of cases of isolated nasal bone hypoplasia, and in 57% of cases of nasal bone hypoplasia with additional malformations. Additionally, in four of nine cases with non-isolated nasal bone hypoplasia but normal CMA results, a monogenic disease was diagnosed. Non-isolated hypoplastic nasal bone appears to be an effective objective marker of fetal facial dysmorphism, associated with pathogenic CNVs or monogenic diseases. In isolated cases, chromosomal microarray testing can be of additional value if invasive testing is performed, e.g., for aneuploidy testing after appropriate counseling. |
| first_indexed | 2024-03-09T19:38:20Z |
| format | Article |
| id | doaj.art-a8aabec9f2d3441ab4c003a0a244fb73 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T19:38:20Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
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| series | Journal of Clinical Medicine |
| spelling | doaj.art-a8aabec9f2d3441ab4c003a0a244fb732023-11-24T01:47:18ZengMDPI AGJournal of Clinical Medicine2077-03832022-03-01116151310.3390/jcm11061513Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic SyndromesHanna Moczulska0Marcin Serafin1Katarzyna Wojda2Maciej Borowiec3Piotr Sieroszewski4Department of Clinical Genetics, Medical University of Lodz, 90-419 Lodz, PolandDepartment of Clinical Genetics, Medical University of Lodz, 90-419 Lodz, PolandDepartment of Fetal Medicine and Gynecology, Medical University of Lodz, 90-419 Lodz, PolandDepartment of Clinical Genetics, Medical University of Lodz, 90-419 Lodz, PolandDepartment of Fetal Medicine and Gynecology, Medical University of Lodz, 90-419 Lodz, PolandNasal bone hypoplasia is associated with a trisomy of chromosome 21, 18 or 13. Nasal bone hypoplasia can also be seen in other, rarer genetic syndromes. The aim of the study was to evaluate the potential of nasal bone hypoplasia, in the second trimester of pregnancy, as a marker of fetal facial dysmorphism, associated with pathogenic copy number variation (CNV). This retrospective analysis of the invasive tests results in fetuses with nasal bone hypoplasia, after excluding those with trisomy 21, 18 and 13. In total, 60 cases with nasal bone hypoplasia were analyzed. Chromosomal aberrations were found in 7.1% of cases of isolated nasal bone hypoplasia, and in 57% of cases of nasal bone hypoplasia with additional malformations. Additionally, in four of nine cases with non-isolated nasal bone hypoplasia but normal CMA results, a monogenic disease was diagnosed. Non-isolated hypoplastic nasal bone appears to be an effective objective marker of fetal facial dysmorphism, associated with pathogenic CNVs or monogenic diseases. In isolated cases, chromosomal microarray testing can be of additional value if invasive testing is performed, e.g., for aneuploidy testing after appropriate counseling.https://www.mdpi.com/2077-0383/11/6/1513nasal bone hypoplasiainvasive testingprenatal diagnosis |
| spellingShingle | Hanna Moczulska Marcin Serafin Katarzyna Wojda Maciej Borowiec Piotr Sieroszewski Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes Journal of Clinical Medicine nasal bone hypoplasia invasive testing prenatal diagnosis |
| title | Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes |
| title_full | Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes |
| title_fullStr | Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes |
| title_full_unstemmed | Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes |
| title_short | Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes |
| title_sort | fetal nasal bone hypoplasia in the second trimester as a marker of multiple genetic syndromes |
| topic | nasal bone hypoplasia invasive testing prenatal diagnosis |
| url | https://www.mdpi.com/2077-0383/11/6/1513 |
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