Question
Is there a way to prevent and treat congenital false ossification of the skeleton in children?
Answer
Congenital false ossification of the skeleton (hereinafter referred to as ACH) is a common dominant chromosomal genetic dwarfism in humans, characterized by short limbs, relatively normal trunk, and macrocephaly. Currently, the only method to reduce the occurrence of this disease is to terminate the pregnancy after clear prenatal diagnosis. Epidemiological studies have shown that the occurrence of ACH is closely related to genetics, being a dominant chromosomal inheritance, and the risk of giving birth to a child with skeletal dysplasia increases significantly with the father’s older age. Prenatal imaging diagnosis includes ultrasound, three-dimensional ultrasound imaging technology, and X-ray diagnosis, with X-ray findings being more typical. Prenatal genetic diagnosis can be achieved through fetal DNA collection and preimplantation genetic diagnosis. It is recommended that pregnant women with parents who have the disease or suspicious B-ultrasound findings for fetal skeletal dysplasia undergo genetic testing. Preimplantation genetic diagnosis will be a hope for couples with skeletal dysplasia to have healthy offspring.