EXPERIENCE WITH 500 PRENATAL DIAGNOSES OF SICKLE-CELL DISEASES - THE EFFECT OF GESTATIONAL-AGE ON AFFECTED PREGNANCY OUTCOME

Prenatal diagnosis of sickle cell diseases is obtained rapidly and pre cisely by polymerase chain reaction (PCR) with Ddel restriction analys is and dot-blotting with allele-specific oligonucleotides (ASO). Prena tal diagnosis of HgbSS and HgbSC was performed in 500 pregnancies, 196 by Southern blot and 304 by PCR. PCR drastically shortened the interv al from sampling to reporting, allowing acceptance even of samples wit h unknown paternal phenotype, and resulted in an overall four-fold inc rease in diagnoses. In 108 pregnancies, the diagnosis was an affected fetus; 25 were HgbSC: 3 (12 per cent) were terminated, 83 were HgbSS: four ended in miscarriage; 40/79 (51 per cent) were terminated. The ge stational age at the time of report to the mother appeared to be a maj or outcome determinant when the fetal diagnosis was HgbSS. The change- point in the maternal decision was found at 20 weeks of gestation. Bef ore the 20th week, most mothers (64 per cent) chose termination; there after, the majority (72 per cent) chose continuation. The odds ratio o f termination in earlier relative to later reporting was 4.7. In order to offer a choice to the mothers at risk of delivering a fetus affect ed by sickle cell disease, the diagnosis should be reported before the 20th week of gestation.