Congenital Malformations Registry - Summary Report
Congenital malformations have traditionally been divided into categories of "major" and "minor". A major anomaly has an adverse effect on the individual's health, functioning or social acceptability. A minor anomaly is generally considered of limited social or medical significance. While minor anomalies in themselves do not greatly affect the child, they can be related to major anomalies or be indications of certain syndromes.1,2
The division between major and minor is far from perfect. No standard lists or definitions exist. We used several sources, including the practices of other registries, to develop a list of minor anomalies.3, 4, 5 One serious problem in making this distinction is that some ICD-9-CM codes include major and minor malformations under the same code. A more specific coding scheme that eliminates most of these problems has been adopted.
Following is a general listing of conditions included in this report and their classification. A few codes are not listed since they contain only a very few cases. Reporting hospitals receive a CMR Handbook with a complete, detailed list of reportable anomalies.
740 - 759*
771.0 - 771.2
Fetal Alcohol Syndrome
Congenital Infections: including rubella, cytomegalovirus
toxoplasmosis and herpes simplex
|*See list of minor and excluded codes|
Benign neoplasm of skin
Hemangioma of skin
Inguinal hernia in males
Specified congenital anomalies of lacrimal passages
Other specified anomalies of ear
Unspecified anomaly of ear
Branchial cleft cyst
Other specified anomalies of face and neck
Other unspecified anomalies of face and neck
Patent ductus arteriosis, if birth weight <1500 grams
Single umbilical artery
Embryonic cyst of cervix, vagina and external female genitalia
Undescended testicle, if birth weight < 2500 grams
Congenital pes planus
Syndactyly without fusion of bone
Congenital pigmentation anomalies of skin
Other anomalies of skin
Specified anomalies of hair
Specified anomalies of nails
Specified anomalies of breast
Other specified anomalies of integument
Unspecified anomalies of the integument
Balanced autosomal translocation in normal individual
- Marden PM, Smith DW, McDonald MJ. Congenital anomalies in the newborn infant including minor variations. J Pediat 1964; 64:357-371.
- Lippig KA, Werler MM, Caron CI, Cook CA, Holmes LB. Predictive value of minor abnormalities: association with major malformations. J Pediatr 1987; 110:530-537.
- Merlob P, Papier CM, Klingberg MA, Reisner SH. Incidence of congenital malformations in the newborn, particularly minor abnormalities. In: Marois, ed. Prevention of physical and mental congenital defects, Part C: Basic and medical sciences, education and future strategies. Proceedings of a conference of the Institut de la Vie<. New York: Alan R. Liss, 1985:51-53.
- Myrianthopoulos NC, Chung CS. Congenital malformations in singletons: epidemiologic survey. Birth Defects: Original Article Series, 1974; X: 2-3, 51-58.
- Jones KL, Smith's Recognizable Patterns of Human Malformation. 4th ed. Philadelphia: W.B. Saunders Co., 1988:662-681.
Birth certificate matching is a vital part of registry activities. This serves to verify the individual's identity and distinguish him or her from all others and provides additional information about the baby and the mother. The matching is used to determine maternal residence at birth and to verify race and birth weight. Matched cases provide a basis to calculate population-based rates. It is critical to match a high percentage of cases to calculate rates accurately and to conduct meaningful surveillance.
Birth certificate matching is carried out by a computer program that compares the birth certificate tape for a given year to the CMR file of cases who were born in that year. The files are compared on several variables until (1) a match is found, (2) a possible match is found or (3) the list is exhausted without finding a match.
Possible matches are reviewed by CMR staff and a decision made about whether there is a match. Unmatched cases are checked further to see if data items have been correctly keyed and all possible aliases have been identified. An online search of the birth certificate files is done and certificates on file at the Vital Records office are reviewed to find unmatched cases. However, review of actual certificates is possible only for children born outside New York City since New York City birth certificates are not on file in Albany. New York City maintains its own vital records files.
The matching process is repeated until about 95% of reported cases are matched. This is a compromise between completeness and efficiency. After about 90% of cases are matched, each additional percentage requires greater and greater effort. The ability to review a copy of the birth certificate greatly enhances the chance of making a match. Matching is more complete for cases born in the state outside New York City than for New York City cases.
Many birth defects registries use a coding system modified from the British Pediatric Association (BPA). This coding system provides more specificity than the ICD-9 system. The Centers for Disease Control and Prevention Metropolitan Atlanta Congenital Defects Program (MACDP) has developed codes that group conditions. The table below shows the MACDP codes and the corresponding BPA and ICD-9 codes. The ICD-9 code may include conditions others than those specified by the BPA code. For example, ICD-9 code 756.7 includes both gastroschisis and omphalocele, but the BPA code allows these conditions to be distinguished.
|MACDP Code||Condition||ICD-9||BPA 5-Digit Code|
|A01||Anencephaly||740.0, 740.1, 740.2||740.00, 740.02, 740.03, 740.10, 740.20, 740.21, 740.29|
|A02||Spina Bifida with Hydrocephaly||741.0||741.00, 741.01, 741.02, 741.03, 741.04, 741.05, 741.06, 741.07, 741.08, 741.09|
|A03||Spina Bifida without Hydrocephaly||741.9||741.90, 741.91, 741.92, 741.93, 741.94, 741.98, 741.99, 742.00, 742.08, 742.09|
|A13||Encephalocele||742.0||742.00, 742.08, 742.09|
|A15||Hydrocephaly||742.3||742.30, 742.31, 742.38, 742.39|
|B01||Anophthalmia, Microphthalmia||743.0, 743.1||743.00, 743.10|
|B03||Glaucoma||743.2||743.20, 743.21, 743.22|
|B54||Ear anomaly with hearing loss||744.0||744.00, 744.01, 744.02, 744.03, 744.09, 744.21|
|D01||Truncus arteriosus||745.0||745.00, 745.01|
|D02||Transposition of great vessels||745.1||745.10, 745.11, 745.12, 745.18, 745.19|
|D03||Tetralogy of Fallot||745.2||745.20, 745.21, 746.84|
|D05||VSD||745.4||745.40, 745.41, 745.48, 745.49|
|D52||Hypoplastic left heart||746.7||746.70|
|D53||Total anomalous pulmonary venous return||747.41||747.42|
|E06||Agenesis of lung||748.5||748.50, 748.51|
|F01||Cleft palate||749.0||749.00, 749.01, 749.02, 749.03, 749.04, 749.05, 749.06, 749.07, 749.09|
|F02||Cleft lip with or without cleft palate||749.0, 749.2, 750.5||749.10, 749.11, 749.12, 749.19, 749.20, 749.21, 749.22, 749.29, 749.51|
|F14||Stenosis or atresia of duodenum||751.1||751.10|
|F15||Other stenosis or atresia of small intestine||751.1||751.11, 751.12, 751.19|
|F16||Stenosis or atresia of rectum or anus||751.2||751.21, 751.22, 751.23, 751.24|
|F17||Hirschsprung's Disease||751.3||751.30, 751.31, 751.32, 751.33|
|F18||Malrotation of intestine||751.4||751.40, 751.41, 751.42, 751.49|
|H01||Renal agenesis||753.0||753.00, 753.01|
|H06||Obstruction of kidney or ureter||753.3||753.20, 753.21, 753.22, 753.29, 753.40, 753.42|
|H09||Bladder or urethra obstruction||753.6||753.60, 753.61, 753.62, 753.63|
|J02||Curvature of spine (scoliosis or lordosis)||754.2||754.20, 754.21, 754.22|
|J03||Dislocation of hip||754.3||754.30|
|J11||Arthrogryposis multiplex congenita||754.89||755.80|
|K01||Reduction deformity - upper limb||755.2||755.20, 755.21, 755.22, 755.23, 755.24, 755.25, 755.26, 755.27, 755.28, 755.29|
|K02||Reduction deformity - lower limb||755.3||755.30, 755.31, 755.32, 755.33, 755.34, 755.35, 755.36, 755.37, 755.38, 755.39|
|R01||Down Syndrome||758.0||758.00, 758.01, 758.02, 758.03, 758.04, 758.09|
|R02||Patau Syndrome (Trisomy 13)||758.1||758.10, 758.11, 758.12, 758.13, 758.19|
|R03||Edwards Syndrome (Trisomy 18)||758.2||758.20, 758.21, 758.23, 758.29|
|S02||Fetal Alcohol Syndrome||760.71||760.71|
|W03||Conjoined twins||759.4||759.40, 759.41, 759.42, 759.43, 759.44, 759.48, 759.49|
*Courtesy of the Texas Birth Defects Monitoring Division February 1999
*Courtesy of the Texas Birth Defects Monitoring Division February 1999