Accuracy of Down syndrome risks produced in a first-trimester screening programme incorporating fetal nuchal translucency thickness and maternal serum biochemistry

Over the past three years approximately 12 000 women have been screened in the first trimester through our OSCAR programme, which utilizes fetal NT and maternal serum free β-hCG and PAPP-A. During this time 30 cases of Down syndrome were identified either prenatally or postnatally. Using an established procedure the accuracy of predicted risk for Down syndrome was assessed in a population of 30 cases of Down syndrome and 11 758 unaffected pregnancies. The correlation between predicted risk and prevalence of Down syndrome was very high (r=0.9995). It is concluded that risks produced by the Fetal Medicine Foundation combined risk algorithm agree very closely with Down syndrome prevalence and can be used with confidence when counselling women of their risk. Copyright © 2002 John Wiley & Sons, Ltd.     

Histopathological findings of the nose of Down syndrome abortuses

Recent reports of absent nasal bone in fetuses with Down syndrome have sparked much interest in the use of this finding for the screening of Down syndrome. We describe the histopathological findings of nasal bones of two fetuses with Down syndrome, one with absence and the other with normal ossification of the nasal bone. We propose that histopathological examination of the nasal bone could improve the accuracy of diagnosis of nasal hypoplasia among Down syndrome abortuses. Copyright © 2003 John Wiley & Sons, Ltd.