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Table 1 Prevalence of congenital anomaly in the first and second pregnancies and relative reduction in prevalence, by group and subtype

From: Risk estimates of recurrent congenital anomalies in the UK: a population-based register study

Congenital anomaly group/subtype

First pregnancies

Second pregnancies

Relative reduction in prevalence

N

Prevalence per 10,000 (95% CI)

N

Prevalence per 10,000 (95% CI)

%

(95% CI)

P value

Isolated anomalies

7162

197.3

(192.8-201.9)

3360

112.1

(108.4-116.0)

43.2

(40.8-45.4)

<0.0001

Nervous system

989

27.2

(25.6-29.0)

467

15.6

(14.2-17.0)

42.8

(36.2-48.8)

<0.0001

Neural tube defects

649

17.9

(16.6-19.3)

309

10.3

(9.2-11.5)

42.3

(34.0-49.6)

<0.0001

 Anencephaly

278

7.7

(6.8-8.6)

130

4.3

(3.7-5.2)

43.4

(30.3-54.0)

<0.0001

 Encephalocele

47

1.3

(1.0-1.7)

27

0.9

(0.6-1.3)

30.4

(-11.7-56.7)

0.14

 Spina bifida

324

8.9

(8.0-10.0)

152

5.1

(4.3-6.0)

43.2

(31.1-53.1)

<0.0001

Hydrocephalus

127

3.5

(2.9-4.1)

53

1.8

(1.4-2.3)

49.5

(30.4-63.3)

0.0001

Microcephaly

66

1.8

(1.4-2.3)

34

1.1

(0.8-1.6)

37.6

(5.6-58.7)

0.03

Eye

81

2.2

(1.8-2.8)

35

1.2

(0.8-1.6)

47.7

(22.2-64.8)

0.002

Ear-face-neck

13

0.4

(0.2-0.6)

5

0.2

(0.1-0.4)

53.4

(-30.7-83.4)

0.15

Cardiovascular

3085

85.0

(82.1-88)

1619

54.0

(51.5-56.7)

36.4

(32.5-40.1)

<0.0001

Transposition of the great vessels

158

4.4

(3.7-5.1)

76

2.5

(2.0-3.2)

41.7

(23.4-55.7)

0.0002

Single ventricle

22

0.6

(0.4-0.9)

11

0.4

(0.2-0.7)

39.4

(-24.9-70.6)

0.18

Ventricular septal defect (VSD)

1300

35.8

(33.9-37.8)

672

22.4

(20.8-24.2)

37.4

(31.3-43.0)

<0.0001

Atrial septal defect (ASD)

221

6.1

(5.3-6.9)

121

4.0

(3.4-4.8)

33.7

(17.2-46.9)

0.0005

Pulmonary valve stenosis

266

7.3

(6.5-8.3)

134

4.5

(3.8-5.3)

39.0

(24.9-50.4)

<0.0001

Aortic valve atresia/stenosis

133

3.7

(3.1-4.4)

73

2.4

(1.9-3.1)

33.5

(11.6-50.0)

0.006

Hypoplastic left heart

69

1.9

(1.5-2.4)

48

1.6

(1.2-2.1)

15.8

(-21.8-41.7)

0.37

Coarctation of the aorta

170

4.7

(4.0-5.4)

87

2.9

(2.3-3.6)

38.0

(19.8-52.1)

0.0004

Respiratory

70

1.9

(1.5-2.4)

36

1.2

(0.9-1.7)

37.7

(6.9-58.3)

0.02

Orofacial clefts

533

14.7

(13.5-16.0)

189

6.3

(5.5-7.3)

57.1

(49.3-63.6)

<0.0001

Cleft lip

141

3.9

(3.3-4.6)

51

1.7

(1.3-2.2)

56.2

(39.7-68.2)

<0.0001

Cleft lip and palate

206

5.7

(4.9-6.5)

71

2.4

(1.9-3.0)

58.3

(45.3-68.1)

<0.0001

Cleft palate

186

5.1

(4.4-5.9)

67

2.2

(1.8-2.9)

56.4

(42.3-67.0)

<0.0001

Digestive system

496

13.7

(12.5-14.9)

224

7.5

(6.6-8.5)

45.3

(36.0-53.3)

<0.0001

Oesophageal atresia

74

2.0

(1.6-2.6)

27

0.9

(0.6-1.3)

55.8

(31.3-71.6)

0.0004

Hirschsprung disease

60

1.7

(1.3-2.1)

24

0.8

(0.5-1.2)

51.6

(22.2-69.8)

0.003

Diaphragmatic hernia

111

3.1

(2.5-3.7)

57

1.9

(1.5-2.5)

37.8

(14.4-54.8)

0.004

Abdominal wall

310

8.5

(7.6-9.5)

90

3.0

(2.4-3.7)

64.8

(55.5-72.2)

<0.0001

Gastroschisis

243

6.7

(5.9-7.6)

65

2.2

(1.7-2.7)

67.6

(57.4-75.4)

<0.0001

Urinary

1035

28.5

(26.8-30.3)

506

16.9

(15.5-18.4)

40.8

(34.2-46.8)

<0.0001

Cystic kidney disease

199

5.5

(4.8-6.3)

103

3.4

(2.8-4.2)

37.3

(20.5-50.6)

0.0002

Genital

91

2.5

(2.0-3.1)

39

1.3

(0.9-1.8)

48.1

(24.5-64.3)

0.0009

Limb

317

8.7

(7.8-9.8)

85

2.8

(2.3-3.5)

67.5

(58.7-74.4)

<0.0001

Polydactyly

38

1.1

(0.8-1.5)

16

0.5

(0.3-0.9)

49.0

(8.6-71.6)

0.03

Musculoskeletal

60

1.7

(1.3-2.1)

23

0.8

(0.5-1.2)

53.6

(24.9-71.3)

0.002

Craniosynostosis

34

0.9

(0.7-1.3)

11

0.4

(0.2-0.7)

60.8

(22.7-80.1)

0.008

Others

81

2.2

(1.8-2.8)

38

1.3

(0.9-1.7)

43.2

(16.5-61.4)

0.005

Cystic hygroma

60

1.7

(1.3-2.1)

25

0.8

(0.6-1.2)

49.5

(19.5-68.4)

0.005

Syndromic anomalies

2837

78.2

(75.4-81.1)

1530

51.1

(48.6-53.7)

34.7

(30.5-38.6)

<0.0001

Chromosomal syndromes

1488

41.0

(39.0-43.1)

914

30.5

(28.6-32.5)

25.6

(19.2-31.5)

<0.0001

Down syndrome

741

20.4

(19.0-21.9)

450

15.0

(13.7-16.5)

26.5

(17.3-34.6)

<0.0001

Edward syndrome

134

3.7

(3.1-4.4)

109

3.7

(3.0-4.4)

1.5

(-26.8-23.5)

0.91

Klinefelter syndrome

37

1.0

(0.7-1.4)

20

0.7

(0.4-1.1)

34.5

(-12.8-62.0)

0.13

Turner syndrome

138

3.8

(3.2-4.5)

64

2.1

(1.7-2.7)

43.8

(24.5-58.2)

0.0002

Genetic syndromes and microdeletions

433

11.9

(10.9-13.1)

213

7.1

(6.2-8.1)

40.4

(29.8-49.4)

<0.0001

DiGeorge syndrome

83

2.3

(1.9-2.8)

33

1.1

(0.8-1.5)

51.8

(27.9-67.8)

0.0006

Stickler syndrome

9

0.2

(0.1-0.5)

6

0.2

(0.1-0.4)

19.3

(-126.8-71.3)

0.69

Skeletal dysplasias

106

2.9

(2.4-3.5)

57

1.9

(1.5-2.5)

34.9

(10.1-52.8)

0.010

Osteogenesis imperfecta (type II)

38

1.0

(0.8-1.4)

24

0.8

(0.5-1.2)

23.5

(-27.5-54.1)

0.31

Other syndromes, sequences, etc.

296

8.2

(7.3-9.2)

131

4.4

(3.7-5.2)

46.4

(34.2-56.4)

<0.0001

Laterality disturbance syndromesa

40

1.1

(0.8-1.5)

17

0.6

(0.3-0.9)

48.5

(9.2-70.8)

0.02

Noonan syndrome

17

0.5

(0.3-0.8)

9

0.3

(0.1-0.6)

35.9

(-43.8-71.4)

0.28

Other genetic anomalies

54

1.5

(1.1-1.9)

25

0.8

(0.6-1.2)

43.9

(9.9-65.1)

0.02

Ichthyosis

22

0.6

(0.4-0.9)

7

0.2

(0.1-0.5)

61.5

(9.8-83.5)

0.03

Neurofibromatosis

11

0.3

(0.2-0.6)

6

0.2

(0.1-0.4)

33.9

(-78.6-75.6)

0.42

Multiple congenital anomalies

461

12.7

(11.6-13.9)

197

6.6

(5.7-7.5)

48.2

(38.9-56.2)

<0.0001

Any congenital anomaly

9999

275.5

(270.2-280.9)

4890

163.2

(158.7-167.8)

40.8

(38.7-42.7)

<0.0001

  1. Congenital anomaly groups (e.g. nervous system) and combined groups (i.e. isolated anomalies, syndromic anomalies and any congenital anomaly) are presented in bold text, while congenital anomaly subtypes within the groups are presented in regular text
  2. Counts, prevalence proportions and relative reductions are the mean across ten multiply imputed datasets
  3. Confidence intervals were estimated using a logit transformation from the summary standard errors, which were combined using Rubin’s rule
  4. Congenital anomaly groups and subtypes are classified in accordance with EUROCAT guidelines [24, 25]
  5. aIncludes Ivemark syndrome, left atrial isomerism and situs inversus