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. 2019 Jul 5;29(7):247–256. doi: 10.2188/jea.JE20180014

Table 1. Number and percentage of the 61 congenital anomalies of interest according to reporting and data collection patterns.

  ICD-10 codec Data collected at delivery only Data collected at one month
of age only
Data collected both at delivery and at one month of age

Spontaneous abortion Medical termination of pregnancies Stillbirth Live birth Live birth Reported at delivery only Reported at one month only Reported either at delivery or
at one month
Reported both at delivery and at one month
N   1,010 330 291 705 44 99445
Anencephaly Q00 3 0.297 12 3.636 0 0.000 1 0.142 0 0.000 12 0.012 5 0.005 16 0.016 1 0.001
Encephalocele Q01 1 0.099 1 0.303 0 0.000 1 0.142 0 0.000 10 0.010 12 0.012 19 0.019 3 0.003
Microcephaly Q02 0 0.000 1 0.303 0 0.000 0 0.000 0 0.000 10 0.010 28 0.028 37 0.037 1 0.001
Hydrocephaly Q03 1 0.099 2 0.606 2 0.687 3 0.426 1 2.273 34 0.034 63 0.063 80 0.080 17 0.017
Craniotabes P96.3 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 35 0.035 35 0.035 69 0.069 1 0.001
Holoprosencephaly Q04.2 2 0.198 7 2.121 1 0.344 1 0.142 0 0.000 12 0.012 27 0.027 32 0.032 7 0.007
Agenesis of corpus callosum Q04.0 0 0.000 2 0.606 1 0.344 0 0.000 1 2.273 13 0.013 15 0.015 20 0.020 8 0.008
Ablepharon Q10.3 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 5 0.005 8 0.008 13 0.013 0 0.000
Anophthalmos/microphthalmos Q11.0–Q11.2 0 0.000 0 0.000 0 0.000 1 0.142 0 0.000 15 0.015 11 0.011 21 0.021 5 0.005
Congenital cataract Q12.0 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 17 0.017 13 0.013 30 0.030 0 0.000
Microtia Q17.2 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 19 0.019 24 0.024 40 0.040 3 0.003
Congenital aural atresia Q16.1 1 0.099 0 0.000 0 0.000 0 0.000 0 0.000 32 0.032 16 0.016 39 0.039 9 0.009
Cryptotia Q17.8 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 19 0.019 19 0.019 33 0.033 5 0.005
Low set ears Q17.4 3 0.297 2 0.606 3 1.031 8 1.135 0 0.000 54 0.054 36 0.036 78 0.078 12 0.012
Cleft lip Q36 1 0.099 3 0.909 1 0.344 1 0.142 0 0.000 63 0.063 62 0.062 76 0.076 49 0.049
Cleft palate Q35 1 0.099 0 0.000 0 0.000 1 0.142 0 0.000 42 0.042 41 0.041 52 0.052 31 0.031
Cleft lip and palate Q37.0–Q37.5 1 0.099 0 0.000 2 0.687 5 0.709 0 0.000 107 0.108 101 0.102 117 0.118 91 0.092
not classified as cleft lip,
cleft palate or cleft lip and palatea
                              13 0.013    
Facial cleft Q37.8 Q37.9 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 7 0.007 4 0.004 9 0.009 2 0.002
Natal teeth K00.6 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 46 0.046 32 0.032 64 0.064 14 0.014
Diaphragmatic hernia Q79.0 0 0.000 0 0.000 1 0.344 5 0.709 0 0.000 28 0.028 22 0.022 37 0.037 13 0.013
Intralobar sequestration Q33.2 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 1 0.001 4 0.004 5 0.005 0 0.000
Congenital cystic adenomatoid malformation Q33.0 0 0.000 0 0.000 0 0.000 1 0.142 0 0.000 9 0.009 11 0.011 14 0.014 6 0.006
Pulmonary hypoplasia Q33.6 0 0.000 0 0.000 1 0.344 6 0.851 0 0.000 17 0.017 19 0.019 27 0.027 9 0.009
Congenital heart disease Q20–Q28 3 0.297 3 0.909 4 1.375 33 4.681 0 0.000 704 0.708 978 0.983 1187 1.194 495 0.498
Cardiac arrhythmia I44, I45, I47, I48, I49 0 0.000 0 0.000 0 0.000 2 0.284 0 0.000 80 0.080 48 0.048 104 0.105 24 0.024
Omphalocele Q79.2 2 0.198 4 1.212 0 0.000 1 0.142 0 0.000 36 0.036 265 0.266 282 0.284 19 0.019
Gastroschisis Q79.3 4 0.396 4 1.212 1 0.344 2 0.284 0 0.000 9 0.009 5 0.005 10 0.010 4 0.004
Esophageal atresia with
or without fistula
Q39.0 Q39.1 0 0.000 0 0.000 1 0.344 4 0.567 0 0.000 14 0.014 14 0.014 18 0.018 10 0.010
Duodenal atresia/stenosis Q41.0 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 17 0.017 13 0.013 19 0.019 11 0.011
Intestinal atresia/stenosis Q41.1–Q41.9 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 16 0.016 10 0.010 18 0.018 8 0.008
Anorectal atresia/stenosis Q42.0–Q42.9 0 0.000 0 0.000 0 0.000 1 0.142 0 0.000 38 0.038 36 0.036 45 0.045 29 0.029
Inguinal hernia K40.2 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 29 0.029 98 0.099 113 0.114 14 0.014
Congenital hydronephrosis Q62.0 0 0.000 1 0.303 0 0.000 0 0.000 0 0.000 145 0.146 163 0.164 216 0.217 92 0.093
Cystic kidney Q61 0 0.000 2 0.606 0 0.000 4 0.567 0 0.000 23 0.023 22 0.022 31 0.031 14 0.014
Renal agenesis Q60.2 2 0.198 1 0.303 2 0.687 0 0.000 0 0.000 5 0.005 6 0.006 8 0.008 3 0.003
Hypospadias Q54 0 0.000 0 0.000 0 0.000 1 0.142 0 0.000 46 0.046 50 0.050 65 0.065 31 0.031
Undescended testis/cryptorchidism Q53 0 0.000 0 0.000 0 0.000 2 0.284 0 0.000 213 0.214 161 0.162 306 0.308 68 0.068
Bladder exstrophy Q64.1 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 3 0.003 2 0.002 3 0.003 2 0.002
Enlarged clitoris N90.8 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 6 0.006 6 0.006 12 0.012 0 0.000
Abnormal Vaginal Opening Q52.4 1 0.099 0 0.000 0 0.000 0 0.000 0 0.000 1 0.001 1 0.001 2 0.002 0 0.000
Indeterminate sex Q56 1 0.099 0 0.000 0 0.000 1 0.142 0 0.000 6 0.006 2 0.002 7 0.007 1 0.001
Polydactyly of fingers Q69 Q70.4 0 0.000 3 0.909 2 0.687 0 0.000 0 0.000 98 0.099 82 0.082 106 0.107 74 0.074
Syndactyly of fingers Q70 0 0.000 2 0.606 0 0.000 4 0.567 0 0.000 34 0.034 25 0.025 41 0.041 18 0.018
Cleft hand Q71.6 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 4 0.004 4 0.004 5 0.005 3 0.003
Polydactyly of toes Q69 Q70.4 0 0.000 0 0.000 0 0.000 1 0.142 0 0.000 67 0.067 57 0.057 88 0.088 36 0.036
Syndactyly of toes Q70 0 0.000 0 0.000 0 0.000 3 0.426 0 0.000 70 0.070 73 0.073 101 0.102 42 0.042
Cleft foot Q72.7 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 6 0.006 4 0.004 7 0.007 3 0.003
Hemangioma Q82.5 0 0.000 0 0.000 0 0.000 1 0.142 0 0.000 186 0.187 633 0.637 756 0.760 63 0.063
Epidermolysis bullosa Q82.3 0 0.000 0 0.000 0 0.000 1 0.142 0 0.000 9 0.009 7 0.007 14 0.014 2 0.002
Myelomeningocele/Spina bifida Q05 0 0.000 1 0.303 1 0.344 1 0.142 0 0.000 21 0.021 23 0.023 33 0.033 11 0.011
Down syndrome Q90 0 0.000 9 2.727 0 0.000 6 0.851 0 0.000 92 0.093 129 0.130 138 0.139 83 0.083
Trisomy 18 Q91.0–Q91.3 0 0.000 5 1.515 7 2.405 6 0.851 0 0.000 19 0.019 23 0.023 27 0.027 15 0.015
Trisomy 13 Q91.4–Q91.7 2 0.198 0 0.000 1 0.344 0 0.000 0 0.000 3 0.003 5 0.005 5 0.005 3 0.003
Turner syndrome Q96 1 0.099 1 0.303 0 0.000 0 0.000 0 0.000 2 0.002 3 0.003 4 0.004 1 0.001
Thanatophoric dysplasia Q77.1 0 0.000 2 0.606 0 0.000 1 0.142 0 0.000 2 0.002 1 0.001 3 0.003 0 0.000
Acrodysostosis, not specificied Q77.4 0 0.000 0 0.000 1 0.344 0 0.000 0 0.000 4 0.004 3 0.003 5 0.005 2 0.002
Developmental dysplasia of the hipb Q65.0–Q65.6                 0 0.000     14 0.014 14 0.014    
Congenital multiple arthrogryposis Q74.3 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 5 0.005 4 0.004 8 0.008 1 0.001
Floppy infant P94.2 0 0.000 0 0.000 0 0.000 0 0.000 0 0.000 11 0.011 8 0.008 16 0.016 3 0.003
Conjoined twins Q89.4 1 0.099 1 0.303 0 0.000 0 0.000 0 0.000 0 0.000 2 0.002 2 0.002 0 0.000
Amniotic band constriction Q79.8 3 0.297 4 1.212 0 0.000 0 0.000 0 0.000 2 0.002 2 0.002 2 0.002 2 0.002

ICD-10, International Statistical Classification of Diseases and Related Health Problems, 10th revision.

Each congenital anomaly is listed with its number of cases and percentage per data collection patterns.

a“not classified as cleft lip, cleft palate or cleft lip and palate” included the different reporting case from at delivery and at one month of age within cleft lip, cleft palate or cleft lip and palate.

bDevelopmental dysplasia of the hip was included in the transcription form at 1 month of age only.

cTranscriptions of both the ICD-10 code and congenital anomaly name in medical records were collected at the data collection phase.