Second trimester maternal serum biochemical screening for Down's syndrome: experience of a single obstetric unit

The objective of this study was to assess the effects of mid-trimester biochemical screening on the prenatal diagnosis of Down's syndrome. All patients booked for antenatal care at the Royal Free Hospital are offered a double marker biochemical screening test (alpha-fetoprotein and free beta human chorionic gonadotrophin). The results of double marker screening tests and the notes of all cases of trisomy 21 from 1 April 1993 to 31 March 1995 were reviewed. Of the 6170 women booked in the antenatal clinic during this 2-year period 4427 (71.8%) took up the offer of biochemical screening. Four hundred and twenty-nine (9.7% of those screened) were reported positive and 293 karyotypes were performed in this group (68.3% uptake) and 253 karyotypes were also performed for other indications. Thirteen of 21 affected pregnancies had biochemical screening. The detection rate of biochemical screening in women aged <37 years was 0% (0/2) with a 8.4% false positive rate. In women aged 37 years the detection rate was 100% (11/11) with a false positive rate of 23%. The overall detection rate for Down's syndrome was 84.6% and the false positive rate was 9.5%. In conclusion, biochemical screening successfully targeted affected pregnancies in women aged 37 years and was useful in reducing the fetal karyotyping rate. However, it was disappointing in the prenatal diagnosis of trisomy 21 in women <37 years old.