A Syndrome of Multiple Congenital Anomalies Associated With Teratogenic Exposure

TLDR

Hormones used as pregnancy tests and for other reasons are linked to multiple congenital anomalies that resemble thalidomide syndrome but with a different pattern. The study recommends confirming pregnancy status before initiating oral contraception and discontinuing hormonal agents used as pregnancy tests. Among 19 VACTERL patients, 13 were exposed to progestogen/estrogen compounds during embryogenesis, and exposure to hormonal contraceptives was significantly higher than in matched controls.

Abstract

A study of 19 patients with multiple congenital anomalies described by the acronym VACTERL (Vertebral, Anal, Cardiac, Tracheoesophageal, Renal, and Limb) revealed exposure at the vulnerable period of embryogenesis to a progestogen/estrogen compound or a progestogen alone in 13 patients. These hormones were taken as a "pregnancy test," and for a variety of other reasons. Comparison of VACTERL patients with paired and matched controls, one group with chromosomal anomalies (other than Down syndrome) and another group with functional murmurs, revealed a significant difference with respect to exposure to hormonal contraceptives. The multiple anomalies of skeletal, cardiovascular, and gastrointestinal structures recapitulate the systems involved in the thalidomide syndrome, but present a variation of the pattern. Until more definitive data are available it would be prudent to emphasize the need to verify the absence of pregnancy before initiation of oral contraception and to discontinue hormonal agents as tests for pregnancy.