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Table 1 Prevalence of birth defects in Korea, 2009–2010

From: Increased prevalence of some birth defects in Korea, 2009–2010

Birth Defects (ICD-10) Number of cases Proportion (%) in birth defect Prevalence per 10,000 95 % CI
Nervous system (Q00–07) 631 2.85 15.6 14.5 to 16.9
 Anencephaly (Q00–002) 4 0.02 0.05 0.03 to 0.3
 Spina bifida (Q05.0–05.9) 311 1.4 7.7 6.9 to 8.6
 Encephalocele (Q01.0–01.9) 28 0.1 0.7 0.5 to 1.0
 Microcephaly (Q02) 122 0.6 3.0 2.5 to 3.6
 Holoprosencephaly (Q04.0–04.2) 53 0.2 1.3 1.0 to 1.7
 Congenital hydrocephalus (Q03.0–03.9) 113 0.5 2.8 2.3 to 3.4
Eye, ear, face and neck (Q10–18) 241 1.1 6.0 5.2 to 6.8
 Anophthalmos (Q11.0–11.1) 1 0.005 0.02 0.001 to 0.1
 Microphthalmos (Q11.2) 18 0.1 0.4 0.3 to 0.7
 Congenital cataract (Q12.0) 57 0.3 1.4 1.1 to 1.8
 Absence of iris (Q13.1) 5 0.02 0.05 0.04 to 0.3
 Congenital glaucoma (Q15.0) 29 0.1 0.7 0.5 to 1.0
 Congenital absence of auricle (Q16.0) 16 0.07 0.4 0.2 to 0.6
 Microtia (Q17.2) 115 0.5 2.9 2.4 to 3.4
Circulatory system (Q20–28) 9768 44.2 242.2 237.5 to 247.1
 Common atrial trunk (Q20.0) 10 0.05 0.25 0.1 to 0.5
 Translocation of great vessels (Q20.3) 72 0.3 1.8 1.4 to 2.2
 Single ventricle (Q20.4) 45 0.2 1.1 0.8 to 1.5
 Tetralogy of fallot (Q21.3) 167 0.8 4.1 3.5 to 4.8
 Ventricular septal defect (Q21.0) 2536 11.5 62.9 60.5 to 65.4
 Atrial septal defect (Q21.1) 4756 21.5 117.9 114.6 to 121.3
 Pulmonary valve atresia/stenosis (Q22.0–22.1) 332 1.5 8.2 7.4 to 9.2
 Tricuspid atresia/stenosis (Q22.4) 8 0.04 0.2 0.1 to 0.4
 Ebstein’s anomaly (Q22.5) 25 0.1 0.6 0.4 to 0.9
 Hypoplastic left heart syndrome (Q23.4) 10 0.05 0.25 0.1 to 0.5
 Patent ductus arteriosus (Q25.0)ca 1617 7.3 40.1 38.2 to 42.1
 Coarctation of aorta (Q25.1) 112 0.5 2.8 2.3 to 3.3
 Aortic valve atresia/stenosis (Q23.0) 37 0.2 0.9 0.6 to 1.3
 Total anomalous pulmonary venous connection (Q26.2) 41 0.2 1.0 0.7 to 1.4
Respiratory system (Q30–34) 750 3.4 18.6 17.3 to 20.0
 Choanal atresia (Q30.0) 17 0.08 0.4 0.2 to 0.7
 Cleft lip with or without cleft palate (Q36.0–37.9) 330 1.49 8.2 7.3 to 9.1
 Cleft palate without cleft lip (Q35.1–35.9 403 1.8 10.0 9.0 to 11.0
Digestive system (Q38–45) 994 4.5 24.7 23.1 to 26.2
 Oesophagus atresia with or without fistula (Q39–39.1) 66 0.3 1.6 1.3 to 2.1
 Anorectal atresia/stenosis (Q42.0–42.3) 241 1.1 6.0 5.2 to 6.8
 Small intestine atresia/stenosis (Q41.0–41.9) 142 0.6 3.5 3.0 to 4.2
 Duodenal atresia /stenosis (Q41) 56 0.3 1.4 1.0 to 1.8
 Other small intestine atresia/stenosis (Q41.1–41.9) 86 0.4 2.1 1.7 to 2.6
 Hirschsprung’s disease (Q43.1) 311 1.4 7.7 6.9 to 8.6
 Atresia of bile ducts (Q44.2) 86 0.4 2.1 1.7 to 2.6
 Annular pancreas (Q45.1) 6 0.03 0.1 0.05 to 0.3
Genital organs (Q50–56) 1631 7.4 40.4 38.5 to 42.5
 Undescended testis (Q53–53.9)b 1174 5.3 29.1 27.5 to 30.8
 Hypospadias (Q54–54.9) 401 1.8 9.9 9.0 to 11.0
 Epispadias (Q64.0) 0 0 0 0
 Indeterminate sex (Q56–56.4) 56 0.3 1.4 1.0 to 1.8
Urinary system (Q60–64) 3619 16.4 89.7 86.8 to 92.7
 Renal agenesis (Q60.0–60.6) 112 0.5 2.8 2.3 to 3.3
 Extrophy of urinary bladder (Q64.1) 1 0.005 0.02 0.001 to 0.1
 Renal dysplasid (Q61.4) 36 0.2 0.9 0.6 to 1.2
 Cystic kidney (Q61.0–61.9) 280 1.3 6.9 6.2 to 7.8
 Obstructive genitourinary defect (Q62.0–62.8, Q64.3) 1860 8.4 46.1 44.1 to 48.3
 Congenital hydronephrosis (Q62.0) 1330 6.0 33.0 31.2 to 34.8
Musculoskeletal system (Q65–79) 4261 19.3 105.7 102.5 to 108.9
 Reduction deformity, upper limbs (Q71.0–71.9) 20 0.09 0.5 0.3 to 0.8
 Reduction deformity, lower limbs (Q72,0–72.9) 42 0.2 1.0 0.8 to 1.4
 Total limb reduction defects (Q71.0–71.9, Q72.0–72.9, Q73.0–73.8) 66 0.3 1.6 1.2 to 2.1
 Congenital hip dislocation (Q65.0–65.9) 2473 11.2 61.3 58.9 to 63.8
 Club foot–talipes equinovarus (Q66.0) 87 0.4 2.2 1.7 to 2.7
 Diaphragmatic hernia (Q79.0) 52 0.2 1.3 1.0 to 1.7
 Polydactyly (Q69.0–69.9) 620 2.8 15.4 14.2 to 16.6
 Syndactyly (Q70.0–70.9) 365 1.7 9.1 8.1 to 10.0
 Arthrogrypposis multiplex congenital (Q74.3) 22 0.1 0.5 0.3 to 0.8
 Craniosynostosis (Q75.0) 387 1.8 9.6 8.7 to 10.6
 Jeunes syndrome (Q77.2) 0 0 0 0
 Achondroplasia/Hypochondroplasia (Q77.4) 27 0.1 0.7 0.4 to 1.0
 Omphalocele (Q79.2) 88 0.4 2.2 1.8 to 2.7
 Gastroschisis (Q79.3) 12 0.05 0.30 0.2 to 0.5
Chromosomal abnormalities (Q90–99) 216 1.0 5.4 4.7 to 6.1
 Trisomy 13 (Q91.4–91.7) 1 0.005 0.02 0.001 to 0.1
 Trisomy 18 (Q91.0–91.3) 5 0.02 0.1 0.04 to 0.3
 Down’s syndrome (Q90.0–90.9) 189 0.9 4.7 4.0 to 5.4
 Turner’s syndrome (Q96.0–96.9) 7 0.03 0.2 0.1 to 0.4
 Kleinfelter’s syndrome (Q98.0–98.4) 7 0.03 0.2 0.1 to 0.4
 Wolff-Hirschron syndrome (Q93.3) 1 0.005 0.02 0.001 to 0.1
 Cri-du-chat syndrome (Q93.4) 6 0.03 0.1 0.05 to 0.3
Total 22,111 100 548.3 541.1 to 555.6
  1. aBirth weight of less than 2,500 g was excluded. bGestational age of less than 36 weeks was excluded