Arthrogryposis (Multiple Congenital Contractures) Associated With Failed Termination of Pregnancy

作者：Hall Judith G^*

来源：American Journal of Medical Genetics, Part A, 2012, 158A(9): 2214-2220.

DOI：10.1002/ajmg.a.35531

• arthrogryposis
• abortion
• failed termination of pregnancy
• multiple congenital contractures
• trauma
• vascular
• attempted termination of pregnancy
• intellectual disability
• counselling

The purpose of this study was to establish whether an increase in failed termination of pregnancy is observed among individuals with arthrogryposis (multiple congenital contractures). A total of 2,500 unselected patients with arthrogryposis collected by the author over a 35-year period were reviewed. The cases included referrals, consultations, personal examinations, and correspondence. They were reviewed for clinical features, pregnancy complications, family history, and a history of attempted terminations of the pregnancy. Eleven cases of failed terminations of pregnancy in which the individuals were subsequently born with arthrogryposis were identified. We conclude that infants who survive attempted termination of pregnancy (both surgical and medical) maybe at an increased risk to be born with multiple congenital contractures. Careful examination of the tissue and a post-procedure ultrasound will help to assure that the termination has been successful. Those infants surviving attempted termination of pregnancy who have arthrogryposis are also at >50% risk for intellectual disability.

• 出版日期2012-9