Prenatal detection of cardiovascular malformations by echocardiography: An indication for cytogenetic evaluation
| Autor: | Jacqueline A. Astemborski, Kate A. Berg, Edward B. Clark, Joann A. Boughman |
|---|---|
| Rok vydání: | 1988 |
| Předmět: |
Heart Defects
Congenital medicine.medical_specialty Population Aneuploidy Chromosome Disorders Trisomy Prenatal diagnosis Cytogenetics Pregnancy Prenatal Diagnosis Internal medicine Turner syndrome medicine Humans education Chromosome Aberrations education.field_of_study Fetus medicine.diagnostic_test business.industry Obstetrics Infant Newborn Infant Obstetrics and Gynecology medicine.disease Fetal Diseases Echocardiography Chromosome abnormality Cardiology Female business Fetal echocardiography |
| Zdroj: | American Journal of Obstetrics and Gynecology. 159:477-481 |
| ISSN: | 0002-9378 |
| DOI: | 10.1016/s0002-9378(88)80113-3 |
| Popis: | Prenatal diagnosis of congenital cardiovascular malformations by echocardiography may signal associated chromosome abnormalities. The exact proportion of these associations is not known but is expected to be higher than that with live-birth. To estimate the risk that a fetus with an echocardiographically detected heart defect has an autosomal trisomy or Turner syndrome, we adjusted the known frequency of aneuploidy in live-born infants with congenital cardiovascular malformations by the reported rate of spontaneous abortion, with data from a population-based case-control study of congenital cardiovascular malformations in which 268 cases (12.7%) had both congenital cardiovascular malformations and a chromosome abnormality. Included in the present analysis were 188 aneuploid infants with congenital cardiovascular malformations that would have been detectable by fetal echo. When data are adjusted for the high spontaneous abortion rate of aneuploid fetuses, we estimate that there would have been more than a threefold increase in aneuploidy over the 13% seen at live-birth. Thus cytogenetic analysis is appropriate in a fetus with echo-diagnosed congenital cardiovascular malformations. |
| Databáze: | OpenAIRE |
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