Challenging Management for Pregnancy and Delivery in Women with Achondroplasia and Pesudoachondroplasia

Abstract

Background: Achondroplasia is a rare genetic disease of bone growth with an incidence of 1:20,000 live births which is characterized by short stature disproportionate body, shortening of long bones, macrocephaly, and kyphoscoliosis. While pseudoachondroplasia is caused by an autosomal dominant mutation in the cartilage oligomeric matrix protein (COMP). Due to the rarity of this condition and its adverse impact on the obstetrical outcome, we find it interesting to report two cases of achondroplasia and pseudoachondroplasia with pregnancy. Case description: The first case was a 24-year-old woman with achondroplasia (patient's height was 116 cm) primigravida, who was referred at her 36-37 weeks of gestation. Ultrasound examination of the fetus revealed micromelia skeletal dysplasia. At 37-38 weeks of gestation, the patient underwent a cesarean section under the subarachnoid block (SAB) regional anesthesia because of the complication of cephalopelvic disproportion (CPD). The baby had a relatively large head circumference, frontal bossing, disproportionate short limbs, and trident hand appearance which is pathognomonic of achondroplasia. The second case was a 26-year-old woman with pseudoachondroplasia (patient's height was 127 cm) multigravida with a history of one abortion, who was referred at her 35-36 weeks of gestation. The patient underwent elective cesarean section with SAB regional anesthesia and the baby looked physically not inheriting maternal abnormalities. Conclusion: Achondroplasia increases maternal and fetal obstetric complications; thus, requiring prenatal counseling, comprehensive risk evaluation, and multidisciplinary team management of anesthesia, obstetrics, and neonatology.