Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound?
| Autor: | V. De Maertelaer, M. Staebler, Laurence Duprez, Fabienne Devreker, N. Van Regemorter, Fred E. Avni, Catherine Donner |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
medicine.medical_specialty Adolescent Pregnancy Trimester Third Biology Ultrasonography Prenatal Pulmonary sequestration Belgium Predictive Value of Tests Pregnancy medicine Humans Abnormalities Multiple Medical History Taking Hydronephrosis Genetics (clinical) Gynecology Chromosome Aberrations Fetus Gastroschisis Obstetrics Meconium peritonitis Cytogenetics Obstetrics and Gynecology Karyotype medicine.disease Karyotyping Pregnancy Trimester Second embryonic structures Female |
| Zdroj: | Prenatal diagnosis. 25(7) |
| ISSN: | 0197-3851 |
| Popis: | Objective The aim of this study was to determine whether karyotyping should be performed for every fetal malformation detected in low risk populations. Methods A karyotype was obtained from 428 fetuses examined over a 10-year period after fetal malformation was diagnosed using obstetrical ultrasound. These fetuses were separated into two groups, one with isolated malformations and the other with multiple malformations. The association between each type of malformation and the result of karyotype was evaluated. Results Forty-eight chromosomal abnormalities were encountered in 428 fetuses (11.2%). The karyotype was abnormal in 32/343 (9.3%) fetuses with isolated malformations and 16/85 (18.8%) fetuses with multiple malformations (p = 0.022). The probability of an abnormal karyotype among the group of isolated malformation depended on the anatomical system involved (p < 0.001). Our study demonstrated several isolated malformations without chromosomal abnormality (hydronephrosis with high obstruction, unilateral multicystic dysplastic kidney, gastroschisis, intestinal dilatation, meconium peritonitis, cystic adenomatoid malformation, pulmonary sequestration, tumor, vertebral anomaly). Conclusion Each fetus with multiple malformations needs a chromosomal analysis. Within the group of isolated malformations, our study emphasizes that medical maternal history and the type of malformation need to be taken into account before performing a fetal karyotype. Copyright © 2005 John Wiley & Sons, Ltd. |
| Databáze: | OpenAIRE |
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