Congenital Malformations Registry - Summary Report, 2007

Section 3: Prevalence of Selected Malformations by Sex and Race/Ethnicity

Introduction to Table

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 birth weight from the birth certificate were not available. Birth weight 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 coding system. 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.

Table 1

Children with Selected Malformations Prevalence per 10,000 Live Births by Sex and Race/Ethnicity
2007 Births – New York State Residents
ICD-9 Malformation Total Number Total Prevalence Male Female Ratio (M/F) Non-Hispanic White Non-Hispanic Black Hispanic Other/ Unknown Race
243 Congenital hypothyroidism 114 4.6 4.7 4.6 1.0 4.5 6.6 3.8 4.1
270.1 Phenylketonuria 10 0.4 0.5 0.3 1.4 0.6 0.5 0.0 0.4
277.0 Cystic fibrosis 42 1.7 1.7 1.7 1.0 2.1 2.0 0.9 1.5
282.6 Sickle-cell anemia 126 5.1 5.4 4.8 1.1 0.4 26.3 1.7 1.5
740.0 Anencephalus 11 0.4 0.4 0.5 0.8 0.6 0.2 0.5 0.0
741.0 Spina bifida with hydrocephalus 25 1.0 1.0 1.1 0.9 1.1 1.0 1.0 0.8
741.9 Spina bifida without hydrocephalus 34 1.4 1.9 0.8 2.3 1.3 1.5 1.5 1.5
742.0 Encephalocele 9 0.4 0.3 0.4 0.8 0.6 0.5 0.0 0.0
742.1 Microcephalus 158 6.4 5.9 7.0 0.8 5.8 8.8 7.4 3.8
742.2 Agyria & lissencephaly 7 0.3 0.4 0.2 2.4 0.3 0.2 0.3 0.4
742.2 Anomalies of corpus callosum 56 2.3 2.7 1.8 1.5 2.5 2.2 2.2 1.5
742.2 Holoprosencephaly 14 0.6 0.4 0.7 0.5 0.8 0.2 0.5 0.0
742.3 Congenital hydrocephalus 238 9.7 12.0 7.3 1.6 8.5 14.3 10.0 7.5
742.4 Porencephaly 10 0.4 0.5 0.3 1.4 0.3 0.7 0.3 0.4
742.5 Congenital tethered cord 49 2.0 1.9 2.1 0.9 2.0 1.2 2.1 3.0
743.0 Anophthalmos 4 0.2 0.2 0.2 1.0 0.2 0.0 0.3 0.0
743.1 Microphthalmos 26 1.1 1.0 1.1 1.0 0.6 1.2 1.9 1.1
743.2 Glaucoma 14 0.6 0.6 0.5 1.3 0.8 0.7 0.3 0.0
743.3 Absence of lens 21 0.9 0.6 1.1 0.6 0.7 2.0 0.9 0.0
743.3 Congenital cataract 15 0.6 0.8 0.4 1.9 0.7 0.7 0.5 0.4
743.45 Aniridia 2 0.1 0.2 0.0 0.0 0.1 0.0 0.0 0.4
743.46 Coloboma of iris 2 0.1 0.2 0.0 0.0 0.1 0.0 0.0 0.4
744.0 Anotia/microtia 28 1.1 1.7 0.6 2.9 0.9 0.2 2.2 1.1
745.0 Common truncus 12 0.5 0.5 0.5 1.0 0.7 0.5 0.2 0.4
745.1 Transposition of great vessels 116 4.7 5.7 3.7 1.6 5.0 5.2 4.1 4.1
745.2 Tetralogy of Fallot 111 4.5 5.2 3.8 1.4 5.1 5.2 2.7 4.9
745.3 Common ventricle 12 0.5 0.2 0.7 0.3 0.5 0.7 0.5 0.0
745.4 Ventricular septal defect 1,186 48.3 43.4 53.5 0.8 48.2 46.5 53.4 40.9
745.5 Ostium secundum type atrial septal def. 1,172 47.8 47.9 47.6 1.0 39.2 67.8 49.6 51.8
745.6 Endocardial cushion defects 97 4.0 3.4 4.6 0.7 3.8 5.9 2.7 4.5
746.0 Atresia/stenosis of pulmonary valve 213 8.7 8.4 9.0 0.9 8.5 11.6 7.7 7.1
746.1 Tricuspid atresia/stenosis/hypoplasia 13 0.5 0.6 0.4 1.5 0.4 0.7 0.7 0.4
746.2 Ebstein's anomaly 12 0.5 0.6 0.3 1.9 0.5 0.5 0.5 0.4
746.3 Congenital stenosis of aortic valve 42 1.7 1.8 1.7 1.1 2.3 1.5 1.2 0.4
746.7 Hypoplastic left heart syndrome 66 2.7 2.8 2.6 1.1 2.7 3.2 3.1 1.1
746.85 Anomalies of coronary artery 12 0.5 0.5 0.5 1.0 0.5 0.7 0.3 0.4
747.0 Patent ductus arteriosis 1,035 42.2 45.9 38.3 1.2 39.8 66.6 33.8 33.8
747.10 Coartation of aorta 162 6.6 7.3 5.9 1.2 6.0 7.9 7.7 4.9
747.41 Total anomalous pulmonary venus connect. 22 0.9 1.1 0.7 1.7 0.5 2.0 1.0 0.8
748.0 Choanal atresia 52 2.1 2.3 1.9 1.2 2.6 2.0 1.9 0.8
748.5 Agenesis/hypoplasia of lung 41 1.7 1.8 1.6 1.1 2.0 2.5 0.7 1.1
749.0 Cleft palate 155 6.3 5.4 7.2 0.7 7.0 5.4 5.8 5.6
749.1 Cleft lip 54 2.2 2.4 2.0 1.2 2.7 0.7 2.1 2.6
749.2 Cleft palate & lip 120 4.9 6.3 3.4 1.8 5.1 2.5 8.1 0.8
750.3 Tracheoesophageal fistula etc. 68 2.8 3.0 2.5 1.2 3.2 2.0 2.6 2.6
750.5 Congenital hypertrophic pyloric stenosis 566 23.1 37.8 7.7 4.9 27.2 13.8 24.9 14.6
751.1 Atresia and stenosis of small intestine 112 4.6 5.0 4.1 1.2 4.4 5.9 3.9 4.5
751.2 Atresia and stenosis of rectum or anus 111 4.5 5.9 3.1 1.9 4.2 2.7 5.3 7.1
751.3 Hirschsprungs disease 75 3.1 4.5 1.6 2.8 3.5 4.4 1.7 1.9
751.4 Anomalies of intestinal fixation 67 2.7 2.7 2.7 1.0 2.9 4.7 1.5 1.5
751.61 Biliary atresia 30 1.2 0.8 1.7 0.5 0.5 1.2 2.2 2.3
752.6 Epispadias 43 1.8 3.3 0.2 19.7 1.2 2.7 2.7 0.8
752.6 Hypospadias 967 39.4 77.0 0.2 308.1 53.2 34.9 21.3 24.0
753.0 Renal agenesis and dysgenesis 103 4.2 5.2 3.2 1.6 5.4 3.4 2.9 2.6
753.1 Cystic kidney disease 166 6.8 8.1 5.4 1.5 6.1 7.9 8.2 4.9
753.2 Obstructive defect renal pelvis & ureter 962 39.2 54.6 23.1 2.4 40.7 32.4 39.3 42.8
753.5 Extrophy of urinary bladder 5 0.2 0.2 0.2 1.4 0.3 0.2 0.0 0.0
753.6 Atresia & stenosis of urethra & bladder 43 1.8 3.4 0.1 40.3 1.9 1.7 1.4 1.9
754.3 Congenital dislocation of hip 212 8.6 3.6 13.9 0.3 9.9 4.4 10.1 6.4
754.51 Talipes equinovarus 140 5.7 7.5 3.8 2.0 5.9 5.9 6.2 3.4
755.2 Reduction deformities of upper limb 61 2.5 2.3 2.7 0.9 3.1 1.7 2.2 1.5
755.3 Reduction deformities of lower limb 29 1.2 0.9 1.5 0.6 1.3 1.0 1.0 1.5
755.8 Arthrogryposis multiplex congenita 10 0.4 0.4 0.4 1.0 0.3 0.7 0.3 0.4
756.0 Craniosynostosis 93 3.8 4.6 2.9 1.6 5.3 2.0 3.1 1.5
756.0 Goldenhar syndrome 2 0.1 0.0 0.2 0.0 0.2 0.0 0.0 0.0
756.4 Chonodrodystrophy 23 0.9 1.0 0.9 1.0 0.8 1.2 1.0 0.8
756.51 Osteogenesis imperfecta 14 0.6 0.5 0.7 0.7 0.7 0.7 0.5 0.0
756.6 Diaphragmatic hernia 67 2.7 3.0 2.5 1.2 3.5 1.5 1.9 3.0
756.7 Gastroschisis 58 2.4 2.3 2.4 1.0 2.7 2.5 2.2 1.1
756.7 Omphalocele 25 1.0 1.4 0.6 2.5 0.7 2.0 1.2 0.8
756.7 Prune belly 6 0.2 0.4 0.1 4.8 0.2 0.7 0.2 0.0
758.0 Down syndrome 338 13.8 14.1 13.4 1.1 14.6 12.8 14.9 9.0
758.1 Patau syndrome 17 0.7 0.7 0.7 1.1 0.7 0.5 1.0 0.4
758.2 Edwards syndrome 29 1.2 1.1 1.2 0.9 1.0 2.2 1.2 0.4
758.6 Gonadal dysgenesis 24 1.0 0.0 2.0 0.0 1.0 1.2 0.7 1.1
758.7 Klinefelter syndrome 9 0.4 0.7 0.0 0.0 0.2 0.7 0.5 0.4
759.3 Situs inversus 17 0.7 0.6 0.8 0.7 0.5 1.0 0.9 0.8
760.71 Fetal alcohol syndrome 19 0.8 0.7 0.8 0.9 0.8 2.2 0.2 0.0
762.8 Amniotic bands 15 0.6 0.6 0.6 1.1 0.5 0.5 1.2 0.0
771.1 Congenital cytomegalovirus infection 22 0.9 0.9 0.9 1.0 0.8 2.2 0.7 0.0
771.2 Other congenital infections 36 1.5 1.5 1.4 1.1 1.3 2.0 2.1 0.4