The newborn blood spot screening is intended for all newborn babies.

Each year approximately 175,000 newborn blood spot screenings are carried out. The newborn blood spot screening is carried out as soon as possible, between 72 and 168 hours after birth. In a combined implementation with the newborn hearing screening, this screening is performed from 96 hours after birth.

Figures

Each year approximately 175,000 newborn blood spot screenings are carried out, 1/6th of them in hospitals. Participation in blood spot screening has remained stable over time, in 2016 it was 99.2%.

Newborn blood spot screening (Screening in 2016)

Figures

Disease burden (incidence)

About 180-190 children per year.

Size of target group (2016 monitoring report)

174,085

Number of screening tests (2016 monitoring report)

172,754

Participation rate (2016 monitoring report)

99.2%

Number and percentage of referrals:
(Source: Tables 3 to 7, MZ is the sum of the values in Table 5, 2016 monitoring report)

Total 647 (0.37%)
27 (0.02%) AGS, 357 (0.21%) CH, 158(0.09%) MZ, 60 (0.04%) SZ, 45 (0.03%) CF

Detection rates by disorder (per 1000 screened)
(Source: 2016 monitoring report, N traced/N screened)

Total 1.035
0.046 AGS, 0.411 CH, 0.278 MZ, 0.126 SC, 0.168 CF

Positive predictive value of an anomalous result
(Source: 2016 monitoring report)

Total 33%
33% AGS, 22% CH, 30% MZ, 96% SZ, 67% CF

False positives (per 1,000 screened) (2016 monitoring report)

2.2 (n=375)

False negative screenings (per 1,000 screened) (2016 monitoring reportort)*

0.023 (n=4)

Missed patients (per 1,000 screened) (2014 Evaluation report)**

0 (n=0)

Timeliness 1st newborn blood spot screening (% live births where the 1st newborn blood spot screening was carried out <168 hours after birth)

98.8%

Timely intervention (evaluationreport 2016)

Totaal 92%

100% AGS, 93% CH, 92% MZ, 92% SZ, 93% CF

* Number of children with a newborn blood spot screening disease who were not traced by screening but who did participate in the screening.

** Number of children with a newborn blood spot screening disease who were not traced by screening, where something went wrong during the process that cannot be attributed to the test.

  • Disease burden (incidence): number of newly diagnosed cases per year
  • Participation rate: the percentage of those invited who actually undergo a screening test.
  • Percentage of referrals: the percentage of screened individuals who receive a referral to a hospital for follow-up diagnostic testing.
  • Detection rate: the number of abnormalities detected, expressed per number of individuals screened. This is a measure of the probability that a relevant abnormality will be traced.
  • Positive predictive value of a referral: the probability that an abnormality (that is clinically relevant) will actually be found following a referral to the hospital.
  • False-positives: the number of people given a referral to the hospital (expressed per number of individuals screened), but where no abnormality (that is clinically relevant) is found. In other words, the probability of someone being sent to the hospital unnecessarily.
  • False negatives: the probability that, following a negative screening, a relevant abnormality will nevertheless be found (following clinical diagnosis).
All the children traced by blood spot screening in the period from 2007 to 2014

 

2007

2008

2009

2010

2011

2012

2013

2014

2015 2016

AGS

11

8

10

7

8

8

8

6

3 8

CH

57

90

65

95

80

69

72

77

78 71

MZ

70

97

87

61

71

51

47

59

50 48

SCZ

41

30

30

41

39

34

35

29

25 22

CF

-

-

-

-

22

27

21

12

21 29

Total

179

225

192

204

217

189

183

183

177 178