Congenital Malformations Registry - Summary Report

Section III: Prevalence of Selected Malformations By Sex and Race/Ethnicity

Introduction

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 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.

Section III - Table 1
Children with Selected Malformations Prevalence per 10,000 Live Births by Sex and Race/Ethnicity
2006 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 123 5.1 5.9 4.2 1.4 3.7 6.4 6.9 5.3
270.1 Phenylketonuria 4 0.2 0.2 0.1 2.9 0.3 0.0 0.2 0.0
277.0 Cystic fibrosis 30 1.2 1.4 1.1 1.2 1.5 1.0 1.2 0.4
282.6 Sickle-cell anemia 160 6.6 6.7 6.5 1.0 0.3 33.2 3.8 0.0
740.0 Anencephalus 14 0.6 0.6 0.6 1.0 0.4 1.0 0.9 0.0
741.0 Spina bifida with hydrocephalus 31 1.3 1.3 1.3 1.0 1.6 0.5 1.7 0.0
741.9 Spina bifida without hydrocephalus 33 1.4 1.5 1.2 1.3 1.1 1.2 1.0 3.6
742.0 Encephalocele 17 0.7 0.8 0.6 1.4 0.5 1.2 0.9 0.4
742.1 Microcephalus 131 5.4 4.7 6.1 0.8 4.7 9.4 4.7 4.0
742.2 Agyria & lissencephaly 4 0.2 0.2 0.1 2.9 0.2 0.0 0.0 0.8
742.2 Anomalies of corpus callosum 72 3.0 2.9 3.0 1.0 3.3 3.0 2.6 2.4
742.2 Holoprosencephaly 13 0.5 0.5 0.6 0.8 0.4 0.7 0.9 0.0
742.3 Congenital hydrocephalus 206 8.5 9.7 7.3 1.3 7.4 11.9 9.0 6.9
742.4 Porencephaly 9 0.4 0.4 0.3 1.2 0.5 0.2 0.3 0.0
742.5 Congenital tethered cord 37 1.5 1.0 2.0 0.5 2.0 0.2 1.0 2.4
743.0 Anophthalmos 3 0.1 0.1 0.2 0.5 0.2 0.2 0.0 0.0
743.1 Microphthalmos 39 1.6 1.6 1.6 1.0 1.7 1.2 1.6 2.0
743.2 Glaucoma 20 0.8 1.0 0.6 1.8 0.7 2.0 0.5 0.4
743.3 Absence of lens 20 0.8 0.6 1.1 0.5 1.0 1.7 0.2 0.0
743.3 Congenital cataract 23 0.9 1.0 0.8 1.2 0.9 1.2 0.7 1.2
743.45 Aniridia 4 0.2 0.1 0.3 0.3 0.2 0.0 0.2 0.4
743.46 Coloboma of iris 5 0.2 0.1 0.3 0.2 0.3 0.2 0.0 0.4
744.0 Anotia/microtia 22 0.9 0.6 1.3 0.4 1.3 0.0 1.0 0.4
745.0 Common truncus 20 0.8 0.6 1.0 0.6 0.8 2.0 0.3 0.4
745.1 Transposition of great vessels 118 4.9 5.6 4.1 1.3 4.8 7.2 4.0 3.6
745.2 Tetralogy of Fallot 123 5.1 5.6 4.6 1.2 5.0 6.2 3.8 6.5
745.3 Common ventricle 10 0.4 0.4 0.4 1.0 0.3 0.7 0.7 0.0
745.4 Ventricular septal defect 1,145 47.2 42.4 52.3 0.8 47.7 44.8 49.3 44.1
745.5 Ostium secundum type atrial septal def. 1,178 48.6 48.3 48.9 1.0 41.6 70.1 47.4 50.2
745.6 Endocardial cushion defects 67 2.8 2.8 2.7 1.0 3.1 3.5 2.1 1.6
746.0 Atresia/stenosis of pulmonary valve 204 8.4 8.5 8.4 1.0 8.2 11.1 6.6 9.3
746.1 Tricuspid atresia/stenosis/hypoplasia 21 0.9 0.8 0.9 0.9 0.8 0.7 1.2 0.8
746.2 Ebstein's anomaly 13 0.5 0.6 0.4 1.5 0.8 0.5 0.3 0.0
746.3 Congenital stenosis of aortic valve 55 2.3 2.9 1.6 1.8 3.2 2.0 1.0 1.2
746.7 Hypoplastic left heart syndrome 68 2.8 3.0 2.6 1.1 3.3 2.7 2.1 2.4
746.85 Anomalies of coronary artery 22 0.9 0.9 0.9 1.0 0.7 1.2 1.2 0.8
747.0 Patent ductus arteriosis 914 37.7 39.8 35.5 1.1 34.4 59.7 29.4 37.2
747.10 Coartation of aorta 156 6.4 6.1 6.8 0.9 6.7 7.2 5.7 5.7
747.41 Total anomalous pulmonary venus connect. 23 0.9 1.1 0.8 1.5 0.9 0.5 1.4 0.8
748.0 Choanal atresia 37 1.5 2.0 1.0 2.0 1.6 1.7 1.6 0.8
748.5 Agenesis/hypoplasia of lung 54 2.2 2.7 1.8 1.5 2.3 2.0 2.4 1.6
749.0 Cleft palate 164 6.8 5.2 8.5 0.6 7.4 5.9 5.6 7.7
749.1 Cleft lip 62 2.6 2.7 2.5 1.1 3.3 2.0 1.7 1.6
749.2 Cleft palate & lip 142 5.9 6.4 5.3 1.2 5.8 4.0 6.8 7.3
750.3 Tracheoesophageal fistula etc. 63 2.6 2.3 2.9 0.8 3.0 2.0 2.3 2.4
750.5 Congenital hypertrophic pyloric stenosis 615 25.4 41.5 8.4 5.0 27.6 17.1 31.6 13.4
751.1 Atresia and stenosis of small intestine 106 4.4 4.7 4.1 1.1 4.2 4.2 5.0 4.0
751.2 Atresia and stenosis of rectum or anus 85 3.5 3.5 3.5 1.0 3.1 3.7 4.7 2.4
751.3 Hirschsprungs disease 65 2.7 3.4 1.9 1.7 2.8 4.7 1.7 1.2
751.4 Anomalies of intestinal fixation 67 2.8 2.6 3.0 0.9 2.7 4.7 1.7 2.4
751.61 Biliary atresia 24 1.0 1.0 0.9 1.1 0.7 2.0 0.9 1.2
752.6 Epispadias 36 1.5 2.8 0.1 33.3 1.5 2.5 1.2 0.4
752.6 Hypospadias 975 40.2 77.5 1.0 76.3 49.8 37.2 23.8 37.2
753.0 Renal agenesis and dysgenesis 100 4.1 4.8 3.4 1.4 4.4 5.7 2.8 3.2
753.1 Cystic kidney disease 141 5.8 5.8 5.8 1.0 4.5 9.4 6.3 5.3
753.2 Obstructive defect renal pelvis & ureter 900 37.1 50.8 22.8 2.2 39.4 30.0 36.3 39.7
753.5 Extrophy of urinary bladder 3 0.1 0.1 0.2 0.5 0.2 0.2 0.0 0.0
753.6 Atresia & stenosis of urethra & bladder 30 1.2 2.3 0.2 13.3 1.4 1.5 1.0 0.4
754.3 Congenital dislocation of hip 235 9.7 4.0 15.7 0.3 10.0 4.0 13.9 7.7
754.51 Talipes equinovarus 189 7.8 9.2 6.3 1.4 8.4 5.7 8.9 5.7
755.2 Reduction deformities of upper limb 56 2.3 2.3 2.4 1.0 2.8 1.5 1.9 2.0
755.3 Reduction deformities of lower limb 26 1.1 1.0 1.1 1.0 1.3 1.2 0.9 0.4
755.8 Arthrogryposis multiplex congenita 20 0.8 0.8 0.8 1.0 0.9 1.0 0.7 0.4
756.0 Craniosynostosis 116 4.8 5.4 4.1 1.3 6.0 1.5 5.2 3.2
756.0 Goldenhar syndrome 6 0.2 0.2 0.3 1.0 0.5 0.0 0.0 0.0
756.4 Chonodrodystrophy 36 1.5 1.0 2.0 0.5 1.2 2.7 1.4 1.2
756.51 Osteogenesis imperfecta 10 0.4 0.6 0.3 2.2 0.6 0.0 0.3 0.4
756.6 Diaphragmatic hernia 81 3.3 3.5 3.2 1.1 3.3 3.0 3.3 4.0
756.7 Gastroschisis 63 2.6 2.9 2.3 1.3 2.8 3.0 2.6 0.8
756.7 Omphalocele 39 1.6 1.5 1.7 0.9 1.4 2.7 0.9 2.4
756.7 Prune belly 10 0.4 0.7 0.1 8.6 0.3 1.2 0.3 0.0
758.0 Down syndrome 310 12.8 13.5 12.0 1.1 12.9 14.6 13.2 8.1
758.1 Patau syndrome 23 0.9 0.8 1.1 0.7 1.0 1.0 1.0 0.4
758.2 Edwards syndrome 34 1.4 1.0 1.8 0.6 1.2 1.5 1.7 1.6
758.6 Gonadal dysgenesis 13 0.5 0.0 1.1 0.0 0.8 0.0 0.5 0.0
758.7 Klinefelter syndrome 15 0.6 1.2 0.0 0.0 0.5 1.0 0.3 1.2
759.3 Situs inversus 19 0.8 0.8 0.8 1.1 0.6 0.7 1.0 1.2
760.71 Fetal alcohol syndrome 12 0.5 0.8 0.2 4.8 0.3 1.2 0.5 0.0
762.8 Amniotic bands 7 0.3 0.3 0.3 1.3 0.3 0.5 0.3 0.0
771.0 Congenital rubella 2 0.1 0.1 0.1 1.0 0.0 0.2 0.2 0.0
771.1 Congenital cytomegalovirus infection 17 0.7 0.8 0.6 1.4 0.3 1.0 1.0 1.2
771.2 Other congenital infections 42 1.7 1.8 1.7 1.0 1.6 2.2 1.7 1.6