Prenatal Diagnosis of Triploidy. Case Report and Literature Review
Triploidy is a lethal numerical chromosomal alteration characterized by an additional haploid chromosomal complement, 99.9 % of these are lost between the first and second trimesters of pregnancy and 15 % of fetuses end in spontaneous abortions before 20 weeks. We present the case of a 27-year-old p...
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| Format: | Article |
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Universidad de las Ciencias Médicas de Cienfuegos
2021-04-01
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| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/913 |
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| author | Pedro Alí Díaz-Véliz Jiménez Belkis del Carmen Vidal Hernández Iliana González Santana |
| author_facet | Pedro Alí Díaz-Véliz Jiménez Belkis del Carmen Vidal Hernández Iliana González Santana |
| author_sort | Pedro Alí Díaz-Véliz Jiménez |
| collection | DOAJ |
| description | Triploidy is a lethal numerical chromosomal alteration characterized by an additional haploid chromosomal complement, 99.9 % of these are lost between the first and second trimesters of pregnancy and 15 % of fetuses end in spontaneous abortions before 20 weeks. We present the case of a 27-year-old patient with 23.2 weeks of gestation who was referred to the Provincial Center of Medical Genetics of Cienfuegos with suspicion by ultrasound of fetal malformations. The diagnosis of abnormal cranial morphology was corroborated with absence of the cerebellar vermis, presence of the fourth ventricle, absence of cavum septum pellucidum, abnormal cardiac morphology, valves at the same level, and high ventricular septal defect. Chromosomal prenatal diagnosis was proposed, its result was fetus with chromosomal formula 69, XXY. Voluntary termination of pregnancy was considered. The pathology report reported that the fetus had the following congenital defects: cerebellar hypoplasia and agenesis of the cerebellar vermis, ventriculo-megaly, and complex atrioventricular canal-type heart disease. The objective of this presentation is to describe a case of triploidy-type polyploidy in amniotic fluid. The case is presented due to the infrequency of this genetic condition among live fetuses in the second trimester of pregnancy. |
| format | Article |
| id | doaj-art-93c9f41869374887a876343663f0dd98 |
| institution | Kabale University |
| issn | 2221-2434 |
| language | Spanish |
| publishDate | 2021-04-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj-art-93c9f41869374887a876343663f0dd982025-01-30T21:22:00ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342021-04-01112219224503Prenatal Diagnosis of Triploidy. Case Report and Literature ReviewPedro Alí Díaz-Véliz Jiménez0Belkis del Carmen Vidal Hernández1Iliana González Santana2Centro Provincial de Genética Médica. Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Centro Provincial de Genética Médica. Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Centro Provincial de Genética Médica. Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Triploidy is a lethal numerical chromosomal alteration characterized by an additional haploid chromosomal complement, 99.9 % of these are lost between the first and second trimesters of pregnancy and 15 % of fetuses end in spontaneous abortions before 20 weeks. We present the case of a 27-year-old patient with 23.2 weeks of gestation who was referred to the Provincial Center of Medical Genetics of Cienfuegos with suspicion by ultrasound of fetal malformations. The diagnosis of abnormal cranial morphology was corroborated with absence of the cerebellar vermis, presence of the fourth ventricle, absence of cavum septum pellucidum, abnormal cardiac morphology, valves at the same level, and high ventricular septal defect. Chromosomal prenatal diagnosis was proposed, its result was fetus with chromosomal formula 69, XXY. Voluntary termination of pregnancy was considered. The pathology report reported that the fetus had the following congenital defects: cerebellar hypoplasia and agenesis of the cerebellar vermis, ventriculo-megaly, and complex atrioventricular canal-type heart disease. The objective of this presentation is to describe a case of triploidy-type polyploidy in amniotic fluid. The case is presented due to the infrequency of this genetic condition among live fetuses in the second trimester of pregnancy.https://revfinlay.sld.cu/index.php/finlay/article/view/913diagnóstico prenataldefectos congénitosreporte de casos |
| spellingShingle | Pedro Alí Díaz-Véliz Jiménez Belkis del Carmen Vidal Hernández Iliana González Santana Prenatal Diagnosis of Triploidy. Case Report and Literature Review Revista Finlay diagnóstico prenatal defectos congénitos reporte de casos |
| title | Prenatal Diagnosis of Triploidy. Case Report and Literature Review |
| title_full | Prenatal Diagnosis of Triploidy. Case Report and Literature Review |
| title_fullStr | Prenatal Diagnosis of Triploidy. Case Report and Literature Review |
| title_full_unstemmed | Prenatal Diagnosis of Triploidy. Case Report and Literature Review |
| title_short | Prenatal Diagnosis of Triploidy. Case Report and Literature Review |
| title_sort | prenatal diagnosis of triploidy case report and literature review |
| topic | diagnóstico prenatal defectos congénitos reporte de casos |
| url | https://revfinlay.sld.cu/index.php/finlay/article/view/913 |
| work_keys_str_mv | AT pedroalidiazvelizjimenez prenataldiagnosisoftriploidycasereportandliteraturereview AT belkisdelcarmenvidalhernandez prenataldiagnosisoftriploidycasereportandliteraturereview AT ilianagonzalezsantana prenataldiagnosisoftriploidycasereportandliteraturereview |