Diagnostic Amniocentesis in Singleton Pregnancy Guidelines Suggested by EFSUMB ́S Educational And Professional Standards Committee Indications

Comments Re a) After individual genetic counseling with regard to the risk of miscarriage caused by the invasive procedure and the risk of fetal chromosomal abnormality, every pregnant woman/couple decides whether an amniocentesis should be performed. From a strictly medical point of view, it is desirable that the risk of chromosomal abnormality be at least as high as that of miscarriage caused by the invasive procedure. An individual risk of fetal chromosomal abnormality can be calculated on the basis of maternal age, personal and family history, serum-biochemistry, nuchal thickness, and fetal anatomy. Re b) Many hereditary diseases can be diagnosed in the fetus by DNA analysis or biochemical analyses in fetal cells from amniotic fluid. Re c) Culture or polymerase chain reaction (PCR) technique can be used to show the presence of viruses and bacteria in the amniotic fluid. Re d) Cordocentesis with analysis of fetal hemoglobin has replaced amniocentesis with analysis of extinction quotient in most centres.