Complex reciprocal translocations, more complex than initially thought: a case report
Notice bibliographique
Résumé
ObjectiveTo present a case of a couple who experienced spontaneous abortion after the transfer of a preimplantation genetic testing for structural rearrangement (PGT-SR) normal/balanced embryo. The embryo was later determined to have significant paternally inherited chromosome deletion that was not previously identified as part of a complex translocation.DesignCase report.SettingSingle infertility practice.Patient(s)A 35-year-old patient with a history of five spontaneous abortions and her 36-years-old partner, a carrier of a balanced reciprocal translocation.Intervention(s)In vitro fertilization with PGT-SR and follow-up genetic testing.Main Outcome Measure(s)Identification of a paternal reciprocal translocation, pregnancy outcome after PGT-SR, and follow-up genetic testing after the spontaneous abortion of a PGT-SR normal/balanced embryo.Result(s)Karyotyping for a couple with a history of recurrent pregnancy loss identified a paternal reciprocal translocation between chromosomes 5 and 17 after G-banding analysis. In vitro fertilization with PGT-SR resulted in one normal/balanced embryo. The couple experienced a 9-week spontaneous abortion of the transfer of the embryo. Testing of product of conception identified a 3.2-Mb deletion on chromosome 17 resulting in the loss of 55 known genes and deemed likely pathogenic. Repeat karyotyping using G-banding and metaphase fluorescence in situ hybridization identified an additional chromosomal translocation, a segment of chromosome 17 translocated to chromosome 6, the same segment of deoxyribonucleic acid absent from the fetus.Conclusion(s)Preimplantation genetic testing for structural rearrangement cases are complex. Genetic testing must be completed with the best available technology by a reliable testing center. We, therefore, recommend that all chromosomal translocations detected by G-banding be further investigated with metaphase fluorescence in situ hybridization. When unexpected results occur in this patient population, testing beyond the standard of care may be required, including advanced molecular testing. To present a case of a couple who experienced spontaneous abortion after the transfer of a preimplantation genetic testing for structural rearrangement (PGT-SR) normal/balanced embryo. The embryo was later determined to have significant paternally inherited chromosome deletion that was not previously identified as part of a complex translocation. Case report. Single infertility practice. A 35-year-old patient with a history of five spontaneous abortions and her 36-years-old partner, a carrier of a balanced reciprocal translocation. In vitro fertilization with PGT-SR and follow-up genetic testing. Identification of a paternal reciprocal translocation, pregnancy outcome after PGT-SR, and follow-up genetic testing after the spontaneous abortion of a PGT-SR normal/balanced embryo. Karyotyping for a couple with a history of recurrent pregnancy loss identified a paternal reciprocal translocation between chromosomes 5 and 17 after G-banding analysis. In vitro fertilization with PGT-SR resulted in one normal/balanced embryo. The couple experienced a 9-week spontaneous abortion of the transfer of the embryo. Testing of product of conception identified a 3.2-Mb deletion on chromosome 17 resulting in the loss of 55 known genes and deemed likely pathogenic. Repeat karyotyping using G-banding and metaphase fluorescence in situ hybridization identified an additional chromosomal translocation, a segment of chromosome 17 translocated to chromosome 6, the same segment of deoxyribonucleic acid absent from the fetus. Preimplantation genetic testing for structural rearrangement cases are complex. Genetic testing must be completed with the best available technology by a reliable testing center. We, therefore, recommend that all chromosomal translocations detected by G-banding be further investigated with metaphase fluorescence in situ hybridization. When unexpected results occur in this patient population, testing beyond the standard of care may be required, including advanced molecular testing.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».