Abstract

Recent guidance from the UK National Screening Committee (NSC) and the Fetal Anomaly Screening Programme (FASP) has led to important changes in prenatal ultrasound diagnosis and invasive testing. These relate to prenatal ultrasound investigation of what were previously known as ‘soft markers’ for Down's syndrome at the time of the detailed anomaly scan and as to whether full karyotype or FISH (fluorescent in situ hybridisation)/QFPCR (quantitative fluorescence PCR) testing for trisomies should be carried out when an invasive test is performed. Neither recommendation is directly related to the other but both in combination could have profound implications for the detection of chromosomal abnormalities other than trisomy 21 (Down’s syndrome). In the light of two cases recently managed in one regional fetal medicine unit, we retrospectively reviewed cases where, with correct application of the NSC and FASP recommendations, non-lethal and clinically important chromosomal abnormalities would most likely not have been detected.