[Choroid plexus cysts and risk of trisomy 18. Modifications regarding maternal age and markers].
TL;DRAbstract
It is well accepted that choroid plexus cyst(s) in association with other congenital anomalies warrant amniocentesis to determine fetal karyotype. The presence of isolated CPC varies around 1% in general population, but around 30% in fetuses with trisomy 18 where the prevalence is 3 per 10,000 pregnancies. Metaanalyses reported incidence of trisomy 18 of 1 in 374 in fetuses with isolated CPC. These risks do not exceed the 1:200 risk of pregnancy loss after amniocentesis and also the 1:270 risk of Down syndrome (DS) in a 35-year-old woman, but exceeds the risk for DS of a 37-year-old woman. Thus these findings suggest that amniocentesis should not be offered to pregnant women in the presence of isolated fetal choroid plexus cyst(s), but in the absence of other pathologies. Amniocentesis is then justified only in the patient with advanced maternal age.
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It is well accepted that choroid plexus cyst(s) in association with other congenital anomalies warrant amniocentesis to determine fetal karyotype. The presence of isolated CPC varies around 1% in general population, but around 30% in fetuses with trisomy 18 where the prevalence is 3 per 10,000 pregnancies. Metaanalyses reported incidence of trisomy 18 of 1 in 374 in fetuses with isolated CPC. These risks do not exceed the 1:200 risk of pregnancy loss after amniocentesis and also the 1:270 risk of Down syndrome (DS) in a 35-year-old woman, but exceeds the risk for DS of a 37-year-old woman. Thus these findings suggest that amniocentesis should not be offered to pregnant women in the presence of isolated fetal choroid plexus cyst(s), but in the absence of other pathologies. Amniocentesis is then justified only in the patient with advanced maternal age.
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