The Association of Fetal Wastage with Facial Cleft Conditions

Abstract

The variation seen in the severity of some congenital malformations suggests that the genetic determinants of these malformations may have a range of effects. It is not unreasonable to expect that this range may extend to lethality (18, 23). Indeed, there is good evidence that mothers of anencephalics have an increased frequency of spontaneous abortions among their other pregnancies (2, 6, 23). The substantially elevated incidences of malformations found in spontaneous abortions (22), therapeutic abortions (18), and stillbirths (4, 16) provide further evidence of the reduced prenatal viability associated with such defects. That fetal wastage in the sibships of propositi with a particular type of congenital malformation should be low seems unlikely. The present paper presents evidence suggesting a reduction of fetal wastage in the sibships of certain classes of facial cleft propositi, and examines the implications of this possible reduction. Data Collection Family pedigrees and maternal reproductive data were collected for 346 propositi with cleft palate (OP), cleft lip (CL) and cleft lip and palate (CL+P). Propositi were children attending for review at plastic surgery out—patient clinics held at the Fleming Memorial Hospital for Sick Children , Newcastle upon Tyne. Data collection was by interview of the rela— tive, usually the mother, accompanying the child to the clinic. As most of the propositi returned for semi—annual or annual review, information obtained at the initial interview could usually be amplified at subsequent in— terview. The occurrence in propositi of defects other than facial clefts was determined from examination of the hospital notes on each case. These cover diagnosis of facial cleft, plastic and reconstructive surgery, diagnosis and treatment of additional clinical conditions, and continuing semi-annual and annual review. Their completeness with respect to the recording of additional defects in propositi is therefore regarded as quite adequate .