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Table 2 Absolute and relative risk of recurrent congenital anomaly (of any group) in the second pregnancy, by congenital anomaly group/subtype in the first pregnancy

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

Congenital anomaly group/subtype in the first pregnancy

Estimated second pregnanciesb

Cases

Absolute risk per 10,000 (95% CI)

Relative risk (95% CI)

P value

Isolated anomalies

5289

190

357

(310-645)

2.17

(1.88-2.51)

<0.0001

Nervous system

744

31

403

(283-571)

2.40

(1.69-3.42)

<0.0001

Neural tube defects

482

16

332

(204-535)

1.97

(1.22-3.20)

0.007

Anencephaly

207

8

387

(193-761)

2.30

(1.15-4.57)

0.02

Encephalocele

34

2

 

Spina bifida

241

6

249

(112-543)

1.48

(0.67-3.26)

0.34

Hydrocephalus

98

5

510

(213-1170)

3.03

(1.29-7.13)

0.01

Microcephaly

52

5

968

(402-2151)

5.74

(2.47-13.36)

0.0001

Eye

63

3

481

(155-1395)

2.85

(0.94-8.65)

0.07

Ear-face-neck

11

1

 

Cardiovascular

2282

79

346

(278-431)

2.07

(1.66-2.58)

<0.0001

Transposition of the great vessels

116

2

 

Single ventricle

17

2

 

Ventricular septal defect (VSD)

966

38

394

(287-538)

2.35

(1.71-3.22)

<0.0001

Atrial septal defect (ASD)

165

8

487

(244-948)

2.89

(1.46-5.72)

0.003

Pulmonary valve stenosis

198

4

202

(76-531)

1.20

(0.45-3.19)

0.72

Aortic valve atresia/stenosis

100

3

301

(96-901)

1.79

(0.58-5.48)

0.31

Hypoplastic left heart

48

2

 

Coarctation of the aorta

122

4

329

(123-854)

1.95

(0.74-5.17)

0.18

Respiratory

50

1

 

Orofacial clefts

398

14

352

(209-586)

2.09

(1.25-3.50)

0.006

Cleft lip

103

4

388

(146-991)

2.30

(0.88-6.04)

0.01

Cleft lip and palate

154

6

390

(176-843)

2.32

(1.06-5.09)

0.04

Cleft palate

142

5

352

(147-820)

2.09

(0.88-4.96)

0.01

Digestive system

371

12

324

(185-562)

1.93

(1.10-3.37)

0.02

Oesophageal atresia

53

2

 

Hirschsprung disease

45

2

 

Diaphragmatic hernia

79

5

634

(266-1440)

3.77

(1.61-8.83)

0.003

Abdominal wall

218

3

138

(45-419)

0.82

(0.27-2.52)

0.73

Gastroschisis

172

3

174

(56-527)

1.03

(0.34-3.18)

0.96

Urinary

751

34

453

(325-628)

2.70

(1.94-3.76)

<0.0001

Cystic kidney disease

145

8

550

(277-1063)

3.27

(1.66-6.42)

0.001

Genital

50

1

 

Limb

244

5

205

(86-483)

1.22

(0.51-2.90)

0.65

Polydactyly

27

2

 

Musculoskeletal

47

4

858

(322-2094)

5.09

(1.97-13.15)

0.001

Craniosynostosis

27

2

 

Others

61

2

 

Cystic hygroma

45

2

 

Syndromic anomalies

2072

111

538

(448-645)

3.25

(2.70-3.91)

<0.0001

Chromosomal syndromes

1073

47

441

(332-583)

2.63

(1.98-3.50)

<0.0001

Down syndrome

536

15

280

(169-460)

1.66

(1.01-2.75)

0.05

Edward syndrome

95

4

433

(163-1099)

2.57

(0.98-6.72)

0.06

Klinefelter syndrome

26

2

 

Turner syndrome

97

4

413

(155-1055)

2.45

(0.93-6.44)

0.07

Genetic syndromes and microdeletions

332

31

933

(663-1299)

5.57

(3.97-7.81)

<0.0001

DiGeorge syndrome

61

5

822

(343-1840)

4.88

(2.09-11.40)

0.0004

Stickler syndrome

7

3

4326

(1319-7928)

25.39

(10.14-63.58)

<0.0001

Skeletal dysplasias

77

2

 

Osteogenesis imperfecta (type II)

28

2

 

Other syndromes, sequences, etc.

209

9

439

(230-823)

2.61

(1.37-4.95)

0.004

Laterality disturbance syndromesa

28

2

     

Noonan syndrome

14

2

     

Other genetic anomalies

36

6

1667

(761-3269)

9.89

(4.72-20.73)

<0.0001

Ichthyosis

15

2

 

Neurofibromatosis

7

2

 

Multiple congenital anomalies

344

16

466

(287-748)

2.77

(1.71-4.48)

0.0001

Any congenital anomaly

7362

301

408

(365-456)

2.52

(2.25-2.83)

<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 risks are the mean across ten multiply imputed datasets
  3. Confidence intervals were derived from 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. The risks for groups and subtypes with at least three cases of recurrent pregnancies are reported
  6. aIncludes Ivemark syndrome, left atrial isomerism and situs inversus
  7. bEstimated second pregnancies during 1987–2010 in women with a first pregnancy during 1985–2008