Section III - Prevalence of Selected Malformations Rates 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.

ICD-9
Code
Malformations Total
Number
Total
Prevalence
Male Female Ratio
(M/F)
White Black Other
090 Congenital syphilis 619 22.8 23.2 22.5 1.0 10.3 71.3 11.7
243 Congenital hypothyroidism 81 3.0 3.2 2.8 1.1 2.4 4.9 3.5
270.1 Phenylketonuria 3 0.1 0.1 0.2 0.5 0.2 0.0 0.0
277.0 Cystic fibrosis 26 1.0 1.2 0.8 1.5 1.2 0.4 0.0
282.6 Sickle-cell anemia 94 3.5 3.5 3.4 1.0 0.4 15.7 0.0
658.8 Amniotic bands 8 0.3 0.1 0.5 0.3 0.4 0.2 0.0
740.0 Anencephalus 16 0.6 0.5 0.7 0.7 0.7 0.2 1.2
741.0 Spina bifida with hydrocephalus 52 1.9 1.8 2.0 0.9 1.7 2.7 2.3
741.9 Spina bifida without hydrocephalus 48 1.8 1.7 1.9 0.9 1.7 1.3 4.1
742.0 Encephalocele 26 1.0 0.8 1.1 0.7 0.8 1.1 2.3
742.1 Microcephalus 158 5.8 5.1 6.6 0.8 4.3 11.5 5.3
742.2 Agyria & lissencephaly 5 0.2 0.2 0.2 1.4 0.2 0.2 0.0
742.2 Anomalies of corpus callosum 42 1.5 1.9 1.1 1.7 1.5 2.0 1.2
742.2 Holoprosencephaly 10 0.4 0.4 0.3 1.4 0.4 0.2 1.2
742.3 Congenital hydrocephalus 184 6.8 7.6 5.9 1.3 6.5 7.7 7.6
742.4 Porencephaly 12 0.4 0.5 0.4 1.3 0.5 0.5 0.0
742.5 Congenital tethered cord 26 1.0 0.6 1.4 0.4 1.2 0.4 0.0
743.0 Anophthalmos 12 0.4 0.5 0.4 1.3 0.4 0.5 0.6
743.1 Microphthalmos 36 1.3 1.4 1.2 1.2 1.2 1.4 2.3
743.2 Glaucoma 16 0.6 0.7 0.5 1.6 0.5 0.9 0.6
743.3 Absence of lens 3 0.1 0.1 0.1 1.9 0.2 0.0 0.0
743.3 Congenital cataract 41 1.5 1.6 1.4 1.1 1.6 1.6 0.6
743.45 Aniridia 2 0.1 0.1 0.0 -.- 0.1 0.0 0.0
743.46 Coloboma of iris 5 0.2 0.3 0.1 3.8 0.3 0.0 0.0
744.0 Anotia/microtia 31 1.1 1.2 1.1 1.2 1.3 0.5 1.2
745.0 Common truncus 20 0.7 0.8 0.7 1.2 0.7 1.1 0.6
745.1 Transposition of great vessels 130 4.8 5.7 3.9 1.5 4.7 5.2 5.3
745.2 Tetralogy of Fallot 129 4.8 4.9 4.6 1.1 4.6 5.6 4.7
745.3 Common ventricle 28 1.0 1.6 0.5 3.5 0.9 1.6 0.6
745.4 Ventricular septal defect 936 34.5 33.2 35.9 0.9 36.3 29.7 33.9
745.5 Ostium secundum type atrial septal def. 959 35.4 34.3 36.5 0.9 32.9 47.0 30.4
745.6 Endocardial cushion defects 77 2.8 2.7 2.9 0.9 3.2 1.8 2.3
746.0 Atresia/stenosis of pulmonary valve 290 10.7 11.2 10.2 1.1 9.4 16 9.9
746.1 Tricuspid atresia/stenosis/hypoplasia 40 1.5 1.9 1.1 1.8 1.4 2.0 0.6
746.2 Ebstein's anomaly 11 0.4 0.4 0.4 1.1 0.5 0.2 0.0
746.3 Congenital stenosis of aortic valve 43 1.6 2.3 0.8 2.8 1.9 0.9 0.0
746.7 Hypoplastic left heart syndrome 55 2.0 2.2 1.8 1.2 2.0 2.2 1.8
746.85 Anomalies of coronary artery 21 0.8 0.9 0.7 1.3 0.7 1.3 0.6
747.0 Patent ductus arteriosis 188 6.9 6.1 7.9 0.8 6.4 8.1 10.5
747.1 Coartation of aorta 110 4.1 5.1 2.9 1.7 4.6 2.7 2.3
747.41 Total anomalous pulmonary venus connect. 17 0.6 0.6 0.6 1.1 0.8 0.4 0.0
748.0 Choanal atresia 28 1.0 1.2 0.8 1.5 1.2 0.5 0.6
748.5 Agenesis/hypoplasia of lung 98 3.6 3.9 3.3 1.2 3.3 4.7 4.7
749.0 Cleft palate 156 5.8 4.8 6.8 0.7 6.2 4.5 5.3
749.1 Cleft lip 84 3.1 4.0 2.2 1.8 3.6 1.6 2.9
749.2 Cleft palate & lip 125 4.6 5.3 3.9 1.4 5.1 3.2 3.5
750.3 Tracheoesophageal fistula etc. 64 2.4 2.9 1.8 1.6 2.9 0.9 1.2
750.5 Congenital hypertrophic pyloric stenosis 449 16.6 26.8 5.9 4.5 20.3 7.4 5.3
751.1 Atresia and stenosis of small intestine 78 2.9 2.8 2.9 1.0 2.4 4.5 2.9
751.2 Atresia and stenosis of rectum or anus 113 4.2 4.2 4.2 1.0 4.1 4.1 5.8
751.3 Hirschsprungs disease 48 1.8 2.3 1.2 1.9 1.7 1.6 2.9
751.4 Anomalies of intestinal fixation 50 1.8 2.2 1.4 1.6 1.6 1.4 5.8
751.61 Biliary atresia 18 0.7 0.7 0.6 1.2 0.6 0.9 0.6
752.6 Epispadias 28 1.0 2.0 0.0 -.- 0.7 2.2 1.2
752.6 Hypospadias 886 32.7 63.8 0.2 422.5 35.6 27 21
753.0 Renal agenesis and dysgenesis 89 3.3 3.9 2.6 1.5 3.9 1.8 1.8
753.1 Cystic kidney disease 146 5.4 6.9 3.9 1.8 5.3 6.3 4.1
753.2 Obstructive defect renal pelvis & ureter 577 21.3 31.5 10.6 3.0 24 12.1 22.8
753.5 Extrophy of urinary bladder 5 0.2 0.2 0.2 1.4 0.2 0.4 0.0
753.6 Atresia & stenosis of urethra & bladder 38 1.4 2.6 0.2 17.2 1.1 2.2 2.9
754.3 Congenital dislocation of hip 395 14.6 7.1 22.3 0.3 16.9 6.1 16.4
754.51 Talipes equinovarus 315 11.6 14.6 8.5 1.7 11.8 11.5 11.1
755.2 Reduction deformities of upper limb 81 3.0 2.8 3.2 0.9 3.7 1.1 1.2
755.3 Reduction deformities of lower limb 51 1.9 2.1 1.7 1.3 1.7 2.3 2.3
755.8 Arthrogryposis multiplex congenita 42 1.5 1.4 1.7 0.9 1.4 2.5 0.6
756.0 Craniosynostosis 109 4.0 5.4 2.6 2.1 4.6 1.8 4.7
756.0 Goldenhar syndrome 11 0.4 0.2 0.6 0.4 0.5 0.4 0.0
756.4 Chonodrodystrophy 31 1.1 1.2 1.1 1.0 1.2 0.7 2.3
756.51 Osteogenesis imperfecta 7 0.3 0.1 0.4 0.4 0.3 0.2 0.0
756.6 Diaphragmatic hernia 54 2.0 2.4 1.6 1.5 1.8 2.0 4.1
756.7 Gastroschisis 33 1.2 1.3 1.1 1.1 1.5 0.5 0.6
756.7 Omphalocele 33 1.2 1.3 1.1 1.1 1.2 1.1 1.8
756.7 Prune belly 4 0.1 0.3 0.0 -.- 0.2 0.0 0.0
758.0 Down syndrome 273 10.1 10.2 9.9 1.0 10.3 8.8 12.3
758.1 Patau syndrome 21 0.8 0.9 0.7 1.3 0.9 0.5 0.6
758.2 Edwards syndrome 33 1.2 0.8 1.7 0.5 1.0 1.8 1.8
758.6 Gonadal dysgenesis 20 0.7 0.3 1.2 0.2 0.8 0.4 1.8
758.7 Klinefelter syndrome 15 0.6 1.1 0.0 -.- 0.6 0.5 0.6
759.3 Situs inversus 15 0.6 0.4 0.8 0.5 0.6 0.5 0.6
760.71 Fetal alcohol syndrome 56 2.1 2.4 1.7 1.4 1.1 6.1 0.6
771.0 Congenital rubella 2 0.1 0.1 0.1 1.0 0.1 0.2 0.0
771.1 Congenital cytomegalovirus infection 37 1.4 1.4 1.3 1.1 1.1 2.3 1.8
771.2 Other congenital infections 61 2.3 2.0 2.5 0.8 1.7 4.9 0.0