ADVERSE PERINATAL OUTCOME IN PATIENTS SCREEN-POSITIVE FOR NEURAL-TUBEDEFECTS AND FETAL DOWN-SYNDROME

An association between various abnormal mid-trimester maternal serum a nalyte values and adverse perinatal outcome has been reported, From an original sample of 14 857 women, we observed five women who were 'scr een-positive' for both neural tube defects [maternal serum alpha-fetop rotein (MSAFP) greater-than-or-equal-to 2.5 multiples of the median] a nd Down syndrome [risk greater-than-or-equal-to 1/274 using MSAFP, mat ernal serum unconjugated oestriol (MSuE3), maternal serum human chorio nic gonadotropin (MShCG), and maternal age]. The four patients who ele cted to undergo amniocentesis all demonstrated both normal karyotype a nd normal amniotic fluid AFP levels. All five cases were associated wi th intrauterine growth retardation (IUGR) and abnormal pregnancy outco mes. Two cases exhibiting severe IUGR on ultrasound examination were t erminated at 19.1 and 21.2 weeks, respectively; the former also exhibi ted fetal calcifications and positive maternal serology for toxoplasmo sis. In another case, fetal demise occurred at 36 weeks' gestation in a patient who had been treated for syphilis in the second trimester. N either infection was confirmed in fetal tissue studies. Though resulti ng in live births, the remaining two cases required operative deliveri es; emergency Caesarean sections for fetal distress were performed at 38 and 32 weeks, respectively, the latter case being associated with s evere pre-eclampsia. We conclude that elevated mid-trimester MSAFP lev els concurrent with maternal serum analyte values associated with incr eased risk for fetal Down syndrome may presage a poor perinatal outcom e, particularly IUGR and possibly congenital infection.