Measurement of activity of urea resistant neutrophil alkaline phosphatase as an antenatal screening test for Down's syndrome.
OBJECTIVE
To investigate the value of measuring maternal urea resistant neutrophil alkaline phosphatase activity as an antenatal screening test for Down's syndrome.


METHODS
Case-control study of blood samples collected at nine to 27 weeks of pregnancy.


METHODS
Antenatal clinics in London and Oxford.


METHODS
72 Women whose fetuses had been diagnosed by amniocentesis or chorionic villus sampling as having Down's syndrome and 156 women whose fetuses did not have the syndrome. Only singleton pregnancies were studied.


METHODS
Activity of urea resistant neutrophil alkaline phosphatase measured cytochemically.


RESULTS
The median enzyme activity in the index patients was 1.65 times the expected median for the controls at the same duration of pregnancy (p less than 0.0001; 95% confidence interval 1.56 to 1.74). A cut off value that identified the 5% of control patients with the highest activities yielded a rate of detection of Down's syndrome of 79% (95% confidence interval 70 to 89%).


CONCLUSIONS
Activity of urea resistant neutrophil alkaline phosphatase is an effective maternal blood marker for Down's syndrome. Its use in antenatal screening could lead to a substantial improvement in the detection of this disorder. Before introducing the test into routine medical practice it will have to be automated so that it can be used on a large scale and is less subjective.
Cuckle
H S
HS
Department of Environmental and Preventive Medicine, Medical College of St Bartholomew's Hospital, London.
Wald
N J
NJ
Goodburn
S F
SF
Sneddon
J
J
Amess
J A
JA
Dunn
S C
SC
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood*; D016022:Case-Control Studies; D004796:Clinical Enzyme Tests; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D009504:Neutrophils / Q000201:enzymology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013997:Time Factors; D014508:Urea
D014508:Urea; D000469:Alkaline Phosphatase