| Autor: |
Leavitt K; Division of Reproductive Genetics, Department of Obstetrics & Gynecology & Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine 1695 Eastchester Road Suite 301, Bronx, NY 10463, USA., Goldwaser T; Division of Reproductive Genetics, Department of Obstetrics & Gynecology & Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine 1695 Eastchester Road Suite 301, Bronx, NY 10463, USA., Bhat G; Genetics Division, Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, The Children's Hospital at Montefiore, 3415 Bainbridge Ave., Bronx, NY 10467, USA., Kalia I; Division of Reproductive Genetics, Department of Obstetrics & Gynecology & Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine 1695 Eastchester Road Suite 301, Bronx, NY 10463, USA., Klugman SD; Division of Reproductive Genetics, Department of Obstetrics & Gynecology & Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine 1695 Eastchester Road Suite 301, Bronx, NY 10463, USA., Dolan SM; Division of Reproductive Genetics, Department of Obstetrics & Gynecology & Women's Health, Montefiore Medical Center/Albert Einstein College of Medicine 1695 Eastchester Road Suite 301, Bronx, NY 10463, USA. |
| Abstrakt: |
Chromosomal microarray analysis (CMA) is a diagnostic tool used in the evaluation of pediatric patients with congenital anomalies or developmental and intellectual disability. In both the pediatric and prenatal patient population, CMA has been shown to have a higher detection rate of chromosomal abnormalities than conventional karyotype alone. Currently, the diagnostic yield of prenatal CMA is highest when applied to the evaluation of a fetus with multiple ultrasound anomalies. Challenges arise when CMA yields isolated findings not associated with a phenotype on ultrasound or variants of uncertain significance, which warrants evaluation of the risks, benefits, limitations and optimal incorporation of CMA into prenatal care. The clinical cases presented here will be used to illustrate these issues. |
