Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis
| Autor: | Tal Biron-Shental, Rivka Sukenik-Halevy, Alex Levi, Reli Hershkovitz, Arie Koifman, Yoav Alpert, Shay Sukenik |
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| Rok vydání: | 2016 |
| Předmět: |
Pregnancy
medicine.medical_specialty Pathology 030219 obstetrics & reproductive medicine medicine.diagnostic_test Heart malformation Obstetrics Microarray analysis techniques business.industry Obstetrics and Gynecology Gestational age 030204 cardiovascular system & hematology medicine.disease humanities 03 medical and health sciences 0302 clinical medicine Nuchal Translucency Measurement medicine Family history business Fetal echocardiography health care economics and organizations Genetics (clinical) Genetic testing |
| Zdroj: | Prenatal Diagnosis. 36:1185-1191 |
| ISSN: | 0197-3851 |
| DOI: | 10.1002/pd.4954 |
| Popis: | Objective The yield of chromosomal microarray analysis (CMA) for prenatally detected congenital heart defects (CHD) is 6.6-19.2%. We evaluated the yield of CMA in cases of prenatally detected CHD in regard to specific clinical characteristics. Methods Data from 192 cases of CHD including type, clinical and familial background, work-up performed during the pregnancy, and pregnancy outcomes were collected. Results Fetal echocardiography was performed in all cases. 61.4% of CHD were suspected by ultrasound. There was a positive family history (FH) in 15.7%. Abnormal nuchal translucency or umbilical cord anomalies were detected in 1.7% and 5.9% respectively and 45.1% were isolated cases. In 11 of 96 cases in which genetic testing was performed, either karyotype and/or CMA were abnormal (11.5%). The detection rate of CMA (performed in 72 cases) was 9.7%. The yield of CMA was similar in simple cases, isolated cases and cases with a positive FH. CMA was abnormal in 7.3% of ventricular septal defect (VSD) cases. Conclusion Most cases of prenatally detected CHD had no additional extra-cardiac, sonographic findings suggesting increased risk for CHD. The yield of CMA testing was significant in all clinical scenarios including simple heart malformations, isolated cases and cases with a positive FH. |
| Databáze: | OpenAIRE |
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