Polyploidy in First and Second Trimester Pregnancies in Romania - a Retrospective Study
| Autor: | Florin Burada, Mihaela Moldovan, Ioana Mozos, Cristina Gug, Violeta Martiniuc, Mihai Ioana, Adrian Ratiu, Anca-Lelia Riza, Eusebiu Vlad Gorduza |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male medicine.medical_specialty Amniotic fluid Adolescent Genetic counseling Prenatal diagnosis Abortion General Biochemistry Genetics and Molecular Biology Ultrasonography Prenatal Miscarriage Polyploidy Pregnancy medicine Humans reproductive and urinary physiology In Situ Hybridization Fluorescence Retrospective Studies medicine.diagnostic_test business.industry Obstetrics Romania medicine.disease Chromosome Banding Abortion Spontaneous Pregnancy Trimester First medicine.anatomical_structure Karyotyping Pregnancy Trimester Second Amniocentesis Chorionic villi Female business |
| Zdroj: | Clinical laboratory. 66(4) |
| ISSN: | 1433-6510 |
| Popis: | BACKGROUND Polyploidy is a rare lethal cytogenetic anomaly in pregnancies, generally leading to pregnancy termination. This study aims to compare first and second trimester polyploidy in pregnancies and describe the underlying mechanisms. METHODS A retrospective study was conducted in three medical genetics laboratories, collecting cases from Eastern, Southern, and Western Romania. The period of interest was January 2008 to December 2018. Prenatal samples (chorionic villi and amniotic fluid) and miscarriage samples were tested by standard karyotyping, as well as QF-PCR or FISH as complementary or alternative techniques. RESULTS In first trimester pregnancies, we report cytogenetic results of chorionic villi samples from miscarriages: 25 triploid cases and 13 tetraploid cases. In second trimester samples obtained by amniocentesis, cytogenetic findings were positive for 17 triploid cases. Maternal age, age of the pregnancy, and fetal gender identified by ultrasound were recorded in all cases and, additionally, data on biochemical risk and ultrasonographic findings for second trimester pregnancies. CONCLUSIONS Cytogenetic investigations of spontaneous abortions provide valuable information on the cause of abortion. This information is crucial for genetic counseling and may also contribute to prenatal diagnosis in subsequent pregnancies. |
| Databáze: | OpenAIRE |
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