Angie Jelin, M.D. discusses guidelines for the prenatal diagnosis of fetal skeletal dysplasias. An early diagnosis is critical to proper medical management (both fetal and maternal) and for calculation of recurrence risk.Read abstract
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An early diagnosis is critical for proper medical management of fetal skeletal dysplasia. Learn what our experts have to say. Click to Tweet
Hi. I want to introduce you to your maternal fetal skeletal disorders program. Here we have a program here toe optimally care for mothers and fetuses have skeletal dysplasia. That's part of this program. We've worked very hard with our Sinaga, furs and our genetic counselors to develop protocols that help us diagnosis fiddle, skeletal dysplasia. We have a very complete ultrasound protocol that includes multiple, two D and three D images that are required to help us with these diagnoses. In this image, you can see we're able to get a three D image of this finance capital. And it's these images that helped us find very specific findings that have led to diagnoses. We worked very closely with Julie Cooper, who's a geneticist and who is the director of the Greenberg Skeletal Dysplasia Center in the Children. But with her, we can make these diagnoses. We looked at our cases that have been referred in for a two year period, and in nine cases that were referred for skeletal dysplasia, we were able to make a clinical diagnosis, which was confirmed with the molecular diagnosis. In each of those nine cases, we recently published that paper, which describes a lot of very specific findings that we saw that led to these diagnoses. We're specifically able to determine whether these cases a relief and the diagnosis, especially the molecular diagnosis that AIDS and helping our patients established the motive inheritance so we can further counsel them future pregnancies.
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