GESTATION COURSE AND DELIVERY PECULIARITIES IN WOMEN WITH ACHONDROPLASIA

Pregnancy in women with achondroplasia is rather uncommon and represents a great risk both for the woman and the fetus. Achondroplasia is a congenital genetic disease, which is manifested byendochondral ossification disturbances against the background of normalendosteal and periosteal ossification, and which results in dwarfism due to long tubular bones hypoplasia. This disorder occurs in approximately 1 in 15000-40000 of live births. A chaotic arrangement of germinative cartilage cells results in ossification disturbances and retardation of linear bone growth. Due to marked disturbances in the skull base formation the face typically has a prominent forehead, flattened nasal bridge, progenia can also be observed. A relative increase of cerebral cranium is due to slow skull base formation and sometimes to hydrocephalus. The whole skeleton is affected, especially the proximal parts of extremities. Achondroplasia is caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). The mutation is the replacement of G to A in 1138 position (G1138A). Achondroplasia is inherited in 20% of cases, in 80% of cases it being the result of new gene mutation. Homozygous achondroplasia is considered to be a fatal form of this disorder. The gestation course in women with achondroplasia is not uneventful. The main complications are disturbance of respiration, a severe pain in the back, cardiovascular disorders. The present article is based on the authors' own experience and is aimed to show that carrying the pregnancy and the birth of a living child are possible in women with such pathology. We are eager to share this unique clinical observation taking into consideration the fact that pregnant women with this marked genetic pathology have been very rare in the last few decades.