Fetal diagnosis and therapy
Utility of Prenatal Screening and Diagnostic Testing for Skeletal Dysplasias.
Nicolette Murphey, Blair Stevens, Kestutis Micke, Jimmy Espinoza, Myla Ashfaq, Aranza Gonzalez Cendejas, Ann Theresa Wittman
Published: 202510.1159/000548470
Abstract
INTRODUCTION: With over 450 described skeletal dysplasia syndromes, prenatal ultrasound findings suggestive of skeletal dysplasia often have a wide differential diagnosis, and most accurate diagnoses are often made through molecular genetic testing.…
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