BACKGROUND Previously reported pathological series suggest that cardiac malformations are universal in trisomy 18. We examined our experience of fetal echocardiography in trisomy 18 for comparison. METHODS Of 255 fetuses with trisomy 18 detected in our centre between January 1999 and June 2004, 174 were evaluated using fetal echocardiography. Our results were compared to four previous echocar...

BACKGROUND A beneficial consequence of screening for trisomy 21 is the early diagnosis of trisomies 18 and 13. Our objective was to examine the performance of first-trimester screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum-free beta-hCG and pregnancy-associated plasma protein-A (PAPP-A). METHODS Prospec...

The trisomy 18 syndrome can result from a full, mosaic, or partial trisomy 18. The main clinical findings of full trisomy 18 consist of prenatal and postnatal growth deficiency, characteristic facial features, clenched hands with overriding fingers and nail hypoplasia, short sternum, short hallux, major malformations, especially of the heart, andprofound intellectual disability in the surviving...