Prenatal Diagnosis of Chondroectodermal Dysplasia (Ellis-Van Creveld Syndrome) with Fetoscopy and Ultrasound

Abstract

Prenatal diagnosis based on anatomic definition of the fetus in utero is an extremely difficult task, particularly in the first half of pregnancy. radiologic technics will give information about the skeleton, gastrointestinal tract and gross body contours, but the information has been of limited value until the sixth month of pregnancy.1 Two new modalities have recently been introduced into clinical obstetrics: ultrasonography to obtain echo patterns from the fetus and fetoscopy to view the fetus directly. We report the combined use of these technics for the diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) early in the second trimester of pregnancy. . . .