| Autor: |
Faas, BHW, Feenstra, I, Eggink, Alex, Kooper, AJA, Pfundt, R, Vugt, JMG, de Leeuw, N |
| Přispěvatelé: |
Obstetrics & Gynecology |
| Rok vydání: |
2012 |
| Zdroj: |
Prenatal Diagnosis, 32(4), 362-370. John Wiley & Sons Ltd. |
| ISSN: |
0197-3851 |
| Popis: |
Objective We evaluated both clinical and laboratory aspects of our new strategy offering quantitative fluorescence (QF)-PCR followed by non-targeted whole genome 250K single-nucleotide polymorphism array analysis instead of routine karyotyping for prenatal diagnosis of fetuses with structural anomalies. Methods Upon the detection of structural fetal anomalies, parents were offered a choice between QF-PCR and 250K single-nucleotide polymorphism array analysis (QF/array) or QF-PCR and routine karyotyping (QF/karyo). Results Two hundred twenty fetal samples were included. In 153/220 cases (70%), QF/array analysis was requested. In 35/153 (23%), an abnormal QF-PCR result was found. The remaining samples were analyzed by array, which revealed clinically relevant aberrations, including two known microdeletions, in 5/118 cases. Inherited copy number variants were detected in 11/118 fetuses, copy number variants with uncertain clinical relevance in 3/118 and homozygous stretches in 2/118. In 67/220 (30%) fetuses, Conclusion Even though QF/array does not reveal a high percentage of submicroscopic aberrations in fetuses with unselected structural anomalies, it is preferred over QF/karyo, as it provides a whole genome scan at high resolution, without additional tests needed and with a low chance on findings not related to the ultrasound anomalies. (C) 2012 John Wiley & Sons, Ltd. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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