Congenital Malformations Registry - Summary Report

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

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 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

2005 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 81 3.3 3.5 3.2 1.1 3.1 5.4 2.5 2.9
270.1 Phenylketonuria 6 0.2 0.4 0.1 4.8 0.3 0.0 0.2 0.4
277.0 Cystic fibrosis 25 1.0 0.8 1.3 0.6 1.3 1.5 0.5 0.0
282.6 Sickle-cell anemia 113 4.7 4.5 4.8 0.9 0.2 23.5 2.1 0.8
658.8 Amniotic bands 1 0.0 0.1 0.0 0.0 0.0 0.0 0.2 0.0
740.0 Anencephalus 8 0.3 0.4 0.3 1.6 0.2 0.2 0.5 0.4
741.0 Spina bifida with hydrocephalus 24 1.0 1.2 0.8 1.6 0.9 2.0 0.9 0.0
741.9 Spina bifida without hydrocephalus 23 0.9 0.7 1.2 0.6 0.9 1.7 0.7 0.4
742.0 Encephalocele 12 0.5 0.7 0.3 2.9 0.5 0.5 0.7 0.0
742.1 Microcephalus 142 5.9 4.6 7.2 0.6 4.3 10.5 6.5 4.2
742.2 Agyria & lissencephaly 1 0.0 0.0 0.1 0.0 0.0 0.0 0.0 0.4
742.2 Anomalies of corpus callosum 40 1.6 1.9 1.4 1.4 1.7 2.0 1.6 0.8
742.2 Holoprosencephaly 7 0.3 0.2 0.3 0.7 0.3 0.7 0.0 0.0
742.3 Congenital hydrocephalus 162 6.7 7.4 5.9 1.2 5.4 9.1 8.3 5.0
742.4 Porencephaly 8 0.3 0.5 0.2 2.9 0.4 0.2 0.4 0.0
742.5 Congenital tethered cord 40 1.6 1.7 1.6 1.1 2.0 1.2 1.6 0.8
743.0 Anophthalmos 5 0.2 0.2 0.3 0.6 0.2 0.7 0.0 0.0
743.1 Microphthalmos 26 1.1 0.8 1.4 0.6 1.2 0.7 1.2 0.8
743.2 Glaucoma 16 0.7 0.8 0.5 1.6 0.8 0.5 0.5 0.4
743.3 Absence of lens 16 0.7 1.2 0.1 14.3 0.6 1.0 0.9 0.0
743.3 Congenital cataract 17 0.7 0.7 0.7 1.1 0.3 1.2 1.1 0.8
743.45 Aniridia 2 0.1 0.1 0.1 1.0 0.1 0.0 0.2 0.0
743.46 Coloboma of iris 7 0.3 0.2 0.4 0.4 0.5 0.0 0.2 0.0
744.0 Anotia/microtia 15 0.6 0.6 0.6 1.1 0.6 0.0 1.1 0.8
745.0 Common truncus 20 0.8 1.0 0.6 1.8 0.9 0.5 0.7 1.3
745.1 Transposition of great vessels 97 4.0 4.3 3.7 1.1 4.2 3.7 4.6 2.1
745.2 Tetralogy of Fallot 109 4.5 5.3 3.6 1.5 3.8 7.4 3.7 5.0
745.3 Common ventricle 15 0.6 0.7 0.5 1.4 0.4 0.0 1.6 0.4
745.4 Ventricular septal defect 1,011 41.7 37.6 45.9 0.8 43.2 41.9 39.3 39.3
745.5 Ostium secundum type atrial septal def. 1,102 45.4 44.6 46.3 1.0 34.6 80.2 44.7 42.7
745.6 Endocardial cushion defects 73 3.0 2.3 3.8 0.6 2.6 4.2 3.2 2.5
746.0 Atresia/stenosis of pulmonary valve 230 9.5 8.9 10.1 0.9 7.8 13.2 10.1 10.0
746.1 Tricuspid atresia/stenosis/hypoplasia 40 1.6 1.8 1.5 1.2 1.2 2.0 1.8 2.9
746.2 Ebstein's anomaly 22 0.9 1.0 0.8 1.4 0.8 1.0 1.2 0.4
746.3 Congenital stenosis of aortic valve 28 1.2 1.2 1.1 1.1 1.8 0.7 0.4 0.4
746.7 Hypoplastic left heart syndrome 57 2.3 2.8 1.9 1.5 3.0 1.5 2.3 0.8
746.85 Anomalies of coronary artery 13 0.5 0.5 0.6 0.8 0.4 1.5 0.2 0.4
747.0 Patent ductus arteriosis 844 34.8 37.0 32.5 1.1 33.9 52.2 27.8 26.3
747.10 Coartation of aorta 107 4.4 4.9 3.9 1.3 5.4 4.4 3.5 1.7
747.41 Total anomalous pulmonary venus connect. 19 0.8 0.8 0.8 1.1 0.8 0.7 0.9 0.4
748.0 Choanal atresia 32 1.3 1.4 1.3 1.1 1.5 2.0 0.7 0.8
748.5 Agenesis/hypoplasia of lung 42 1.7 2.5 0.9 2.7 2.0 2.0 1.2 1.3
749.0 Cleft palate 136 5.6 4.3 7.0 0.6 6.2 4.2 5.0 6.7
749.1 Cleft lip 54 2.2 3.0 1.4 2.1 2.5 1.0 1.8 4.2
749.2 Cleft palate & lip 124 5.1 5.6 4.6 1.2 4.9 3.7 6.2 5.9
750.3 Tracheoesophageal fistula etc. 56 2.3 3.0 1.6 1.9 2.8 1.5 2.1 1.7
750.5 Congenital hypertrophic pyloric stenosis 526 21.7 35.5 7.2 4.9 23.7 9.1 30.8 11.3
751.1 Atresia and stenosis of small intestine 79 3.3 3.6 2.9 1.3 2.5 4.4 4.1 3.3
751.2 Atresia and stenosis of rectum or anus 108 4.5 4.3 4.7 0.9 4.4 5.2 5.0 2.1
751.3 Hirschsprungs disease 73 3.0 3.9 2.1 1.8 2.5 5.2 2.8 2.5
751.4 Anomalies of intestinal fixation 43 1.8 2.2 1.4 1.6 1.4 2.5 2.1 1.7
751.61 Biliary atresia 24 1.0 0.7 1.3 0.6 0.5 1.5 1.4 1.7
752.6 Epispadias 30 1.2 2.3 0.1 27.6 1.6 1.5 0.5 0.4
752.6 Hypospadias 881 36.3 70.4 0.4 166.6 46.5 28.5 24.8 25.1
753.0 Renal agenesis and dysgenesis 105 4.3 5.5 3.0 1.8 5.3 2.9 4.2 2.1
753.1 Cystic kidney disease 147 6.1 6.3 5.8 1.1 5.7 8.1 6.4 3.8
753.2 Obstructive defect renal pelvis & ureter 906 37.3 51.2 22.7 2.3 39.8 33.1 35.2 37.2
753.5 Extrophy of urinary bladder 5 0.2 0.1 0.3 0.2 0.3 0.0 0.2 0.0
753.6 Atresia & stenosis of urethra & bladder 14 0.6 1.0 0.2 5.7 0.2 0.7 1.2 0.8
754.3 Congenital dislocation of hip 202 8.3 3.3 13.6 0.2 9.5 4.4 8.7 8.4
754.51 Talipes equinovarus 221 9.1 10.8 7.4 1.5 10.0 9.6 7.8 7.1
755.2 Reduction deformities of upper limb 45 1.9 2.1 1.6 1.3 1.8 3.2 1.4 0.8
755.3 Reduction deformities of lower limb 20 0.8 1.0 0.7 1.4 0.9 0.7 0.0 2.5
755.8 Arthrogryposis multiplex congenita 9 0.4 0.0 0.8 0.0 0.3 0.2 0.5 0.4
756.0 Craniosynostosis 117 4.8 6.0 3.6 1.7 5.4 2.7 5.7 3.3
756.0 Goldenhar syndrome 12 0.5 0.6 0.4 1.3 0.4 0.2 0.7 0.8
756.4 Chonodrodystrophy 40 1.6 2.1 1.2 1.8 1.6 2.0 1.6 1.3
756.51 Osteogenesis imperfecta 15 0.6 0.8 0.4 1.9 0.7 1.0 0.5 0.0
756.6 Diaphragmatic hernia 67 2.8 3.5 1.9 1.8 2.5 2.7 3.0 3.8
756.7 Gastroschisis 57 2.3 2.3 2.4 1.0 2.4 2.9 2.7 0.4
756.7 Omphalocele 29 1.2 1.0 1.4 0.8 1.3 2.2 0.7 0.0
756.7 Prune belly 6 0.2 0.5 0.0 0.0 0.3 0.2 0.0 0.4
758.0 Down syndrome 285 11.7 10.5 13.0 0.8 12.9 11.3 11.1 7.9
758.1 Patau syndrome 27 1.1 1.2 1.0 1.2 1.0 1.5 1.1 1.3
758.2 Edwards syndrome 19 0.8 0.5 1.1 0.4 0.7 0.7 0.5 1.7
758.6 Gonadal dysgenesis 26 1.1 0.2 1.9 0.1 1.1 1.2 1.1 0.8
758.7 Klinefelter syndrome 4 0.2 0.3 0.0 0.0 0.2 0.2 0.0 0.0
759.3 Situs inversus 17 0.7 0.9 0.5 1.7 0.3 0.5 1.4 1.3
760.71 Fetal alcohol syndrome 13 0.5 0.5 0.6 0.8 0.8 0.5 0.2 0.0
771.0 Congenital rubella 1 0.0 0.0 0.1 0.0 0.0 0.2 0.0 0.0
771.1 Congenital cytomegalovirus infection 16 0.7 0.7 0.6 1.2 0.3 1.5 0.5 1.3
771.2 Other congenital infections 61 2.5 2.7 2.4 1.1 2.5 2.2 3.5 0.8