Preliminary evidence for a possible association between oral contraceptives and birth defects. (Abstract only)

A study of 10 patients with multiple congenital anomalies described by the acronym VACTEL (vertebral anal cardiac tracheal esophageal limb) and 2 patients with DiGeorge syndrome revealed exposure at the vulnerable period of embryogeneis to a progestogen-estrogen compound or a progestogen alone in 8 patients (p less than .001). These hormones were taken either as a "pregnancy-test" or mistakenly without realizing that pregnancy already existed. Tests of alternative hypotheses of single mutant gene etiology and chromosomal etiology of VACTEL syndrome failed to support these modes. The multiple anomalies of skeletal cardiovascular and gastrointestinal structures recapitulate the systems involved in the thalidomide syndrome but present a different pattern. A retrospective study of 224 patients with congenital heart disease disclosed that 20 patients received progestogen-estrogen at the vulnerable period of cardiogeneis compared with 4 of 262 controls (p less than .001). The distribution of heart lesions was unusual in that trunco-conal great vessel malformations predominated. The deficiencies of retrospective studies are acknowledged therefore a prospective study as well as a protocol for evaluation of teratogenic mechanisms of progestogen-estrogen in subhuman primates will be required for definitive investigation and are in progress.(FULL TEXT)