Osteogenesis Imperfecta Type VIII in Prenatal Screening: A Case Report Emphasizing the Importance of Early Diagnosis and Genetic Counseling

Skeletal dysplasia represents a set of birth defects which disrupts bone and cartilage growth that occurs because of genetic variations. The genetic disorder Osteogenesis Imperfecta (OI) type VIII develops because of recessive P3H1 gene variants which create impaired collagen production and produces severe bone brittleness. This report describes a 35-year-old woman who is pregnant for the third time and has given birth two times previously with past fetal abnormalities and family members choosing to marry close relatives. During the 20th week of the pregnancy medical experts found intrauterine restricted long bones and tibia-fibula curvatures through ultrasound imaging. The genetic analysis of whole exome sequencing discovered the disease-causing P3H1 variant which established the patient had OI type VIII. The examination results indicated the correct diagnosis. Early diagnosis depends heavily on prenatal imaging along with genetic testing which allows families to make smartphone decisions and receive proper medical care when skeletal dysplasias are present.