Congenital Malformations Registry - 1996 Report

Section III

Prevalence of Selected Malformations By Sex and Race

Introduction to Tables

The malformations presented in this section were selected because of the frequency with which they were reported and/or their clinical significance. Rates are per 10,000 live births. The sex ratio is calculated by dividing the rate in males by the rate in females. The malformation rates presented in this report may not be comparable to earlier reports. Previous reports from 1989 to 1991 did not use birth certificate matched cases; thus, the race and birthweight from the birth certificate were not available. Birthweight data are useful to calculate the rate of some malformations such as patent ductus arteriosus. In some cases, these conditions can result from being preterm rather than actually having a malformation. Racial data in this report also may not be comparable because race is defined by maternal race from the birth certificate. In the earlier reports, race was defined by what was reported on the CMR form, which may differ from what is recorded on the birth certificate.

Fluctuations in specific malformation prevalence should be interpreted with caution, especially differences in the "other" race category since the numbers in this group are small. In addition, several malformations were added in 1992 as a result of the change to the BPA code. Previously, these could not be distinguished using the ICD-9 codes. However, since ICD-9 codes are more familiar to most vendors, the ICD-9 code is given on the table with the named malformation. See Appendix 4 for further information on the BPA codes.

Section III

Children with Selected Major Malformations

Prevalences per 10,000 Live Births by Sex & Race

1996 Births New York State Residents

ICD-9 Code Malformation Total Number Total Prevalence Male Female Ratio (M/F) White Black Other
243 Congenital hypothyroidism

72

2.7

2.7

2.8

1.0

2.2

4.6

2.9

270.1 Phenylketonuria

2

0.1

0.1

0.1

1.0

0.1

0.0

0.0

277.0 Cystic fibrosis

30

1.1

1.4

0.9

1.6

1.5

0.2

0.6

282.6 Sickle-cell anemia

123

4.7

4.1

5.3

0.8

0.4

20.8

0.0

740.0 Anencephalus

16

0.6

0.4

0.8

0.6

0.6

0.5

0.6

741.0 Spina bifida with hydrocephalus

47

1.8

1.8

1.8

1.0

2.2

0.7

1.1

741.9 Spina bifida without hydrocephalus

45

1.7

1.8

1.6

1.1

1.8

1.3

2.3

742.0 Encephalocele

25

0.9

0.8

1.1

0.7

1.1

0.5

0.6

742.1 Microcephalus

152

5.8

4.7

6.8

0.7

4.9

9.1

5.7

742.2 Agyria & lissencephaly

10

0.4

0.3

0.5

0.6

0.2

1.1

0.0

742.2 Anomalies of corpus callosum

46

1.7

1.9

1.6

1.2

2.0

1.3

0.6

742.2 Holoprosencephaly

9

0.3

0.1

0.5

0.3

0.4

0.2

0.6

742.3 Congenital hydrocephalus

206

7.8

7.6

8.1

0.9

7.4

10.6

2.9

742.4 Porencephaly

19

0.7

0.7

0.8

0.9

0.6

1.3

0.6

742.59 Congenital tethered cord

22

0.8

1.0

0.7

1.4

1.0

0.2

1.1

743.0 Anophthalmos

3

0.1

0.1

0.1

1.9

0.1

0.2

0.0

743.1 Microphthalmos

34

1.3

1.3

1.2

1.1

1.4

1.3

0.6

743.2 Glaucoma

14

0.5

0.6

0.5

1.3

0.5

0.7

0.6

743.5 Absence of lens

3

0.1

0.1

0.2

0.5

0.2

0.0

0.0

743.3 Congenital cataract

35

1.3

1.3

1.4

0.9

1.3

1.6

1.1

743.45 Aniridia

5

0.2

0.1

0.3

0.2

0.2

0.4

0.0

743.46 Coloboma of iris

10

0.4

0.4

0.4

1.0

0.5

0.2

0.0

744.0,2 Anotia/microtia

13

0.5

0.6

0.4

1.5

0.7

0.0

0.0

745.0 Common truncus

18

0.7

0.5

0.9

0.6

0.7

0.9

0.0

745.1 Transposition of great vessels

105

4.0

4.7

3.3

1.4

4.1

4.2

1.1

745.2 Tetralogy of Fallot

112

4.2

4.7

3.7

1.3

4.3

4.6

2.9

745.3 Common ventricle

23

0.9

0.7

1.0

0.7

1.0

0.9

0.0

745.4 Ventricular septal defect

1023

38.8

35.1

42.7

0.8

39.6

36.1

37.1

745.5 Ostium secundum type atrial septal def.

1199

45.5

44.0

47.0

0.9

40.0

67.2

37.1

745.6 Endocardial cushion defects

74

2.8

3.2

2.4

1.3

2.7

2.9

3.4

746.0 Atresia/stenosis of pulmonary valve

274

10.4

10.7

10.1

1.1

9.0

16.0

6.8

746.1 Tricuspid atresia/stenosis/hypoplasia

28

1.1

1.0

1.1

1.0

0.8

2.0

0.6

746.2 Ebstein's anomaly

9

0.3

0.3

0.4

0.8

0.3

0.2

0.6

746.3 Congenital stenosis of aortic valve

37

1.4

1.9

0.9

2.2

1.8

0.2

0.6

746.7 Hypoplastic left heart syndrome

53

2.0

1.8

2.3

0.8

1.8

3.3

0.0

746.85 Anomalies of coronary artery

12

0.5

0.3

0.6

0.5

0.5

0.2

0.0

747.0 Patent ductus arteriosus

95

3.6

3.4

3.8

0.9

2.8

5.8

5.1

747.10 Coarctation of aorta

114

4.3

4.7

3.9

1.2

4.6

3.8

3.4

747.41 Total anomalous pulmonary venous connect.

32

1.2

1.3

1.1

1.2

1.0

1.8

1.7

748.0 Choanal atresia

59

2.2

2.0

2.5

0.8

2.8

0.9

0.6

748.5 Agenesis/hypoplasia of lung

73

2.8

2.7

2.8

1.0

3.0

2.5

1.1

749.0 Cleft palate

161

6.1

4.9

7.4

0.7

6.3

5.1

8.0

749.1 Cleft lip

87

3.3

3.9

2.6

1.5

3.8

1.6

3.4

749.2 Cleft palate & lip

129

4.9

6.4

3.3

2.0

5.3

3.1

5.7

750.3 Tracheoesophageal fistula etc.

64

2.4

2.8

2.0

1.4

2.5

2.4

1.7

750.5 Congenital hypertrophic pyloric stenosis

469

17.8

28.4

6.7

4.2

21.4

8.6

7.4

751.1 Atresia and stenosis of small intestine

80

3.0

2.7

3.3

0.8

2.7

4.4

2.3

751.2 Atresia and stenosis of rectum or anus

88

3.3

3.7

3.0

1.3

3.7

2.2

2.9

751.3 Hirschsprungs disease

59

2.2

3.0

1.5

2.0

2.1

3.3

1.1

751.4 Anomalies of intestinal fixation

52

2.0

2.2

1.7

1.3

2.1

2.0

0.6

751.61 Biliary atresia

26

1.0

1.3

0.7

1.8

0.8

0.7

3.4

752.6 Epispadias

16

0.6

1.2

0.0

 

0.6

0.9

0.0

752.6 Hypospadias

883

33.5

64.6

0.9

75.4

37.2

24.6

22.3

753.0 Renal agenesis and dysgenesis

79

3.0

3.4

2.6

1.3

3.5

2.0

0.6

753.1 Cystic kidney disease

143

5.4

5.3

5.6

0.9

5.9

4.9

2.9

753.2 Obstructive defect renal pelvis & ureter

624

23.7

31.2

15.7

2.0

25.0

17.8

28.0

753.5 Exstrophy of urinary bladder

9

0.3

0.4

0.2

1.9

0.3

0.4

0.0

753.6 Atresia & stenosis of urethra & bladder

43

1.6

3.1

0.1

40.0

1.2

2.5

3.4

754.3 Congenital dislocation of hip

347

13.2

6.7

20.0

0.3

14.5

8.0

14.3

754.51 Talipes equinovarus

329

12.5

15.8

8.9

1.8

14.1

8.7

7.4

755.2 Reduction deformities of upper limb

71

2.7

3.0

2.3

1.3

3.1

1.8

1.1

755.3 Reduction deformities of lower limb

36

1.4

1.3

1.5

0.9

1.1

2.5

0.6

754.89 Arthrogryposis multiplex congenita

31

1.2

1.1

1.2

0.9

1.3

0.9

0.0

756.0 Craniosynostosis

102

3.9

4.1

3.6

1.2

4.6

1.8

2.9

756.0 Goldenhar syndrome

11

0.4

0.7

0.2

4.3

0.5

0.2

0.0

756.4 Chondrodystrophy

24

0.9

1.0

0.8

1.3

0.9

1.1

0.6

756.51 Osteogenesis imperfecta

9

0.3

0.3

0.4

0.8

0.4

0.2

0.0

756.6 Diaphragmatic hernia

62

2.4

2.7

2.0

1.3

2.2

2.5

2.3

756.7 Gastroschisis

43

1.6

1.6

1.7

0.9

1.8

1.3

0.6

756.7 Omphalocele

37

1.4

1.3

1.5

0.9

1.1

2.7

0.6

756.7 Prune belly

4

0.2

0.2

0.1

2.9

0.1

0.5

0.0

758.0 Down syndrome

234

8.9

8.6

9.2

0.9

9.0

8.9

8.0

758.1 Patau syndrome

13

0.5

0.6

0.4

1.5

0.4

0.7

1.1

758.2 Edwards syndrome

22

0.8

0.7

0.9

0.8

0.8

1.1

0.0

758.6 Gonadal dysgenesis

16

0.6

0.1

1.1

0.1

0.8

0.0

0.0

758.7 Klinefelter syndrome

14

0.5

1.0

0.0

 

0.5

0.5

0.6

759.3 Situs inversus

17

0.6

0.9

0.4

2.3

0.6

0.9

0.0

760.71 Fetal alcohol syndrome

41

1.6

2.0

1.1

1.8

0.7

4.9

0.0

771.0 Congenital rubella

4

0.2

0.0

0.3

0.0

0.1

0.4

0.0

771.1 Congenital cytomegalovirus infection

28

1.1

1.0

1.1

1.0

0.5

3.3

0.6

771.2 Other congenital infections

40

1.5

1.8

1.2

1.4

1.5

2.2

0.0

Section III

Children with Selected Major Malformations
Prevalences per 10,000 Live Births by Sex & Race

1997 Births New York State Residents

ICD-9 Code Malformation Total Number Total Prevalence Male Female Ratio (M/F) White Black Other
243 Congenital hypothyroidism

65

2.5

3.2

1.8

1.7

2.1

3.5

3.9

270.1 Phenylketonuria

2

0.1

0.0

0.2

0.0

0.0

0.4

0.0

277.0 Cystic fibrosis

34

1.3

1.3

1.4

1.0

1.4

1.5

0.0

282.6 Sickle-cell anemia

98

3.8

3.8

3.8

1.0

0.8

14.9

0.6

740.0 Anencephalus

11

0.4

0.4

0.5

0.8

0.4

0.4

0.6

741.0 Spina bifida with hydrocephalus

36

1.4

1.4

1.4

1.0

1.3

1.6

2.2

741.9 Spina bifida without hydrocephalus

37

1.4

1.3

1.6

0.8

1.6

0.7

1.7

742.0 Encephalocele

20

0.8

0.9

0.6

1.4

0.6

1.5

0.6

742.1 Microcephalus

132

5.1

4.0

6.3

0.6

3.8

8.9

7.3

742.2 Agyria & lissencephaly

8

0.3

0.3

0.3

1.0

0.3

0.2

1.1

742.2 Anomalies of corpus callosum

41

1.6

1.6

1.6

1.0

1.5

1.5

2.8

742.2 Holoprosencephaly

10

0.4

0.5

0.3

1.4

0.5

0.2

0.0

742.3 Congenital hydrocephalus

184

7.2

8.1

6.2

1.3

6.9

7.8

8.4

742.4 Porencephaly

11

0.4

0.6

0.2

2.6

0.5

0.2

0.6

742.59 Congenital tethered cord

21

0.8

0.5

1.1

0.5

1.0

0.5

0.0

743.0 Anophthalmos

3

0.1

0.1

0.2

0.5

0.1

0.4

0.0

743.1 Microphthalmos

27

1.1

0.8

1.3

0.7

1.0

1.3

1.1

743.2 Glaucoma

19

0.7

1.1

0.3

3.6

0.7

0.9

1.1

743.3 Congenital cataract

36

1.4

1.5

1.2

1.3

1.5

0.9

2.2

743.45 Aniridia

5

0.2

0.2

0.2

1.4

0.2

0.4

0.0

743.46 Coloboma of iris

9

0.4

0.4

0.3

1.2

0.3

0.4

0.6

744.0,2 Anotia/microtia

10

0.4

0.4

0.4

1.0

0.5

0.0

0.6

745.0 Common truncus

20

0.8

0.8

0.8

1.0

0.8

0.9

0.6

745.1 Transposition of great vessels

96

3.7

4.8

2.6

1.8

4.0

3.3

2.2

745.2 Tetralogy of Fallot

100

3.9

3.8

3.9

1.0

4.1

3.5

3.4

745.3 Common ventricle

20

0.8

0.8

0.8

1.0

1.0

0.4

0.0

745.4 Ventricular septal defect

950

37.0

35.4

38.4

0.9

38.3

34.6

31.9

745.5 Ostium secundum type atrial septal def.

1241

48.3

47.8

48.7

1.0

44.5

65.2

35.9

745.6 Endocardial cushion defects

87

3.4

3.0

3.7

0.8

3.2

4.5

2.2

746.0 Atresia/stenosis of pulmonary valve

222

8.6

8.1

9.2

0.9

8.0

12.2

5.0

746.1 Tricuspid atresia/stenosis/hypoplasia

35

1.4

1.1

1.6

0.7

1.4

1.6

0.0

746.2 Ebstein's anomaly

16

0.6

0.5

0.7

0.7

0.8

0.4

0.0

746.3 Congenital stenosis of aortic valve

33

1.3

1.6

1.0

1.7

1.5

0.7

0.6

746.7 Hypoplastic left heart syndrome

51

2.0

2.7

1.3

2.1

1.9

2.9

0.0

746.85 Anomalies of coronary artery

7

0.3

0.4

0.2

2.4

0.3

0.4

0.0

747.0 Patent ductus arteriosus

98

3.8

3.8

3.8

1.0

3.4

4.7

5.0

747.10 Coarctation of aorta

100

3.9

5.2

2.5

2.1

4.4

3.3

1.1

747.41 Total anomalous pulmonary venous connect.

21

0.8

0.9

0.7

1.3

0.9

0.7

0.0

748.0 Choanal atresia

45

1.8

1.8

1.8

1.0

2.1

1.3

0.0

748.5 Agenesis/hypoplasia of lung

89

3.5

3.8

3.1

1.2

3.3

4.4

2.2

749.0 Cleft palate

166

6.5

5.7

7.2

0.8

7.0

3.8

9.0

749.1 Cleft lip

69

2.7

2.7

2.7

1.0

2.9

1.5

3.9

749.2 Cleft palate & lip

124

4.8

5.5

4.1

1.3

5.2

2.7

6.2

750.3 Tracheoesophageal fistula etc.

57

2.2

2.1

2.4

0.9

2.3

2.2

1.7

750.5 Congenital hypertrophic pyloric stenosis

472

18.4

28.5

7.8

3.6

22.2

9.3

6.7

751.1 Atresia and stenosis of small intestine

83

3.2

2.5

4.0

0.6

3.2

3.8

1.7

751.2 Atresia and stenosis of rectum or anus

98

3.8

3.9

3.7

1.0

4.3

2.0

4.5

751.3 Hirschsprungs disease

39

1.5

2.1

1.0

2.2

1.6

1.5

0.6

751.4 Anomalies of intestinal fixation

41

1.6

1.8

1.4

1.4

2.0

0.9

0.0

751.61 Biliary atresia

21

0.8

0.7

1.0

0.7

0.8

0.9

0.6

752.6 Epispadias

13

0.5

1.0

0.0

 

0.6

0.4

0.0

752.6 Hypospadias

817

31.8

62.0

0.1

778.5

35.1

24.2

21.3

753.0 Renal agenesis and dysgenesis

83

3.2

3.7

2.7

1.4

3.8

2.2

1.1

753.1 Cystic kidney disease

130

5.1

5.8

4.3

1.3

4.6

7.5

2.8

753.2 Obstructive defect renal pelvis & ureter

546

21.2

31.2

10.8

2.9

22.6

16.0

24.1

753.5 Exstrophy of urinary bladder

2

0.1

0.1

0.1

1.0

0.1

0.0

0.0

753.6 Atresia & stenosis of urethra & bladder

31

1.2

2.3

0.1

28.7

1.1

1.5

1.1

754.3 Congenital dislocation of hip

340

13.2

6.5

20.2

0.3

15.2

6.2

15.1

754.51 Talipes equinovarus

297

11.6

15.2

7.8

1.9

12.3

11.1

6.2

755.2 Reduction deformities of upper limb

72

2.8

2.2

3.4

0.6

3.2

2.4

0.6

755.3 Reduction deformities of lower limb

38

1.5

1.5

1.4

1.1

1.4

2.0

1.1

754.89 Arthrogryposis multiplex congenita

35

1.4

1.4

1.3

1.1

1.3

1.5

1.7

756.0 Craniosynostosis

88

3.4

4.0

2.8

1.4

4.1

1.6

2.2

756.0 Goldenhar syndrome

8

0.3

0.3

0.3

1.0

0.4

0.0

0.0

756.4 Chondrodystrophy

21

0.8

1.0

0.6

1.6

0.9

0.9

0.0

756.51 Osteogenesis imperfecta

7

0.3

0.4

0.2

2.4

0.2

0.5

0.0

756.6 Diaphragmatic hernia

40

1.6

2.0

1.0

1.9

1.7

1.5

0.6

756.7 Gastroschisis

35

1.4

1.5

1.2

1.3

1.4

1.3

1.1

756.7 Omphalocele

36

1.4

1.4

1.4

1.0

1.1

2.0

1.7

756.7 Prune belly

3

0.1

0.2

0.0

 

0.1

0.4

0.0

758.0 Down syndrome

239

9.3

9.3

9.3

1.0

9.9

8.0

7.3

758.1 Patau syndrome

24

0.9

1.0

0.9

1.1

0.9

1.1

0.6

758.2 Edwards syndrome

31

1.2

1.1

1.3

0.9

1.4

0.9

0.0

758.6 Gonadal dysgenesis

10

0.4

0.1

0.7

0.1

0.5

0.0

0.0

758.7 Klinefelter syndrome

5

0.2

0.4

0.0

 

0.2

0.2

0.0

759.3 Situs inversus

17

0.7

0.6

0.7

0.9

0.6

0.9

0.6

760.71 Fetal alcohol syndrome

33

1.3

1.4

1.1

1.3

0.4

4.4

0.0

771.0 Congenital rubella

4

0.2

0.2

0.2

1.0

0.1

0.2

1.1

771.1 Congenital cytomegalovirus infection

27

1.1

1.1

1.0

1.0

0.8

2.0

0.6

771.2 Other congenital infections

41

1.6

2.1

1.0

2.1

1.1

2.4

3.9