Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing
Thanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.37 cases for every 10,000 births. We report a...
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2024-01-01
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| Series: | Revista Chilena de Obstetricia y Ginecología |
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| author | Wilmar Saldarriaga Manuel A. Vásquez-Salguero Viviana López-López |
| author_facet | Wilmar Saldarriaga Manuel A. Vásquez-Salguero Viviana López-López |
| author_sort | Wilmar Saldarriaga |
| collection | DOAJ |
| description | Thanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.37 cases for every 10,000 births. We report a male fetus with TDII-specific ultrasound findings. Afterward, amniocentesis and cordocentesis were performed, and samples were analyzed using next-generation sequencing (NGS) to perform exome sequencing and Quantitative Fluorescence Polymerase Chain Reaction, k650E (p.Lys659glu, A→G) mutation was found in the FGFR3 gene, reported as pathogenic. Furthermore, the usage of NGS in cell-free fetal DNA, amniotic fluid, and fetal blood is described to establish a skeletal dysplasia diagnosis, accomplishing an early diagnosis to determine the prognosis according to the type of skeletal dysplasia and provide essential information about the pregnancy outcome, either for planning the delivery method or choosing voluntary interruption of pregnancy, in addition to genetic and reproductive counseling.
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| format | Article |
| id | doaj-art-bba111411bf049b8953d4f5a2cf5523e |
| institution | DOAJ |
| issn | 0717-7526 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Permanyer |
| record_format | Article |
| series | Revista Chilena de Obstetricia y Ginecología |
| spelling | doaj-art-bba111411bf049b8953d4f5a2cf5523e2025-08-20T02:49:40ZengPermanyerRevista Chilena de Obstetricia y Ginecología0717-75262024-01-0189610.24875/RECHOG.24000014Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencingWilmar Saldarriaga0Manuel A. Vásquez-Salguero1Viviana López-López2Department of Obstetrics and Gynecology; Department of Morphology. Health Faculty, Universidad del Valle; Departament of Obstetrics and Gynecology, Hospital Universitario del Valle, Evaristo García, E.S.E.; Valle del Cauca, Cali, ColombiaMedicine and Surgery School, Health Faculty, Universidad del Valle. Valle del Cauca, Cali, ColombiaDepartment of Obstetrics and Gynecology, Hospital Universitario del Valle, Evaristo García, E.S.E, Valle del Cauca, Cali, ColombiaThanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.37 cases for every 10,000 births. We report a male fetus with TDII-specific ultrasound findings. Afterward, amniocentesis and cordocentesis were performed, and samples were analyzed using next-generation sequencing (NGS) to perform exome sequencing and Quantitative Fluorescence Polymerase Chain Reaction, k650E (p.Lys659glu, A→G) mutation was found in the FGFR3 gene, reported as pathogenic. Furthermore, the usage of NGS in cell-free fetal DNA, amniotic fluid, and fetal blood is described to establish a skeletal dysplasia diagnosis, accomplishing an early diagnosis to determine the prognosis according to the type of skeletal dysplasia and provide essential information about the pregnancy outcome, either for planning the delivery method or choosing voluntary interruption of pregnancy, in addition to genetic and reproductive counseling. https://www.rechog.com/frame_eng.php?id=257Thanatophoric dysplasia. Prenatal ultrasonography. Fetal ultrasonography. Next-generation sequencing. FGFR3. |
| spellingShingle | Wilmar Saldarriaga Manuel A. Vásquez-Salguero Viviana López-López Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing Revista Chilena de Obstetricia y Ginecología Thanatophoric dysplasia. Prenatal ultrasonography. Fetal ultrasonography. Next-generation sequencing. FGFR3. |
| title | Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing |
| title_full | Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing |
| title_fullStr | Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing |
| title_full_unstemmed | Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing |
| title_short | Thanatophoric dysplasia type 2: prenatal diagnosis through fetal ultrasound and next-generation sequencing |
| title_sort | thanatophoric dysplasia type 2 prenatal diagnosis through fetal ultrasound and next generation sequencing |
| topic | Thanatophoric dysplasia. Prenatal ultrasonography. Fetal ultrasonography. Next-generation sequencing. FGFR3. |
| url | https://www.rechog.com/frame_eng.php?id=257 |
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