Congenital Malformations Registry - Summary Report
Appendix 1: Classification of Codes
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.
| Major Malformations | |
|---|---|
| 658.8 740 - 759* 760.71 771.0 - 771.2 |
Amniotic Bands Congenital Anomalies Fetal Alcohol Syndrome Congenital Infections: including rubella, cytomegalovirus toxoplasmosis and herpes simplex |
| *See list of minor and excluded codes | |
| Minor Malformations | |
| 214 216 228.01 550 553.1 743.65 744.1 744.29 744.3 744.4 744.89 744.9 747.0 747.5 752.41 752.42 752.5 754.61 755.0 755.11, 755.13 757.2 757.32 757.33 757.39 757.4 757.5 757.6 757.8 757.9 |
Lipoma Benign neoplasm of skin Hemangioma of skin Inguinal hernia in males Umbilical hernia Specified congenital anomalies of lacrimal passages Accessory auricle 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 Imperforate hymen Undescended testicle, if birth weight < 2500 grams Congenital pes planus Polydactyly Syndactyly without fusion of bone Dermatoglyphic anomalies Vascular hamartomas 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 |
| Exclusions | |
| 750.0 758.4 778.6 |
Tongue tie Balanced autosomal translocation in normal individual Congenital hydrocele |
References
- 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.
Appendix 2: Birth Certificate Matching
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.
Appendix 3: BPA Codes
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 |
|---|---|---|---|
| CENTRAL NERVOUS SYSTEM | |||
| 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 |
| A16 | Microcephalus | 742.1 | 742.10 |
| EYE / EAR | |||
| B01 | Anophthalmia, Microphthalmia | 743.0, 743.1 | 743.00, 743.10 |
| B03 | Glaucoma | 743.2 | 743.20, 743.21, 743.22 |
| B04 | Cataract | 743.32 | |
| B54 | Ear anomaly with hearing loss | 744.0 | 744.00, 744.01, 744.02, 744.03, 744.09, 744.21 |
| CARDIAC | |||
| 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 |
| D04 | Single ventricle | 745.3 | 745.30 |
| 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 |
| RESPIRATORY | |||
| E01 | Choanal atresia | 748.0 | 748.00 |
| E06 | Agenesis of lung | 748.5 | 748.50, 748.51 |
| CLEFTS | |||
| 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 |
| GASTRO-INTESTINAL | |||
| 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 |
| F21 | Biliary atresia | 751.61 | 751.65 |
| GENITO-URINARY | |||
| 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 |
| MUSCULOSKELETAL | |||
| 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 |
| K05 | Amniotic bands | 658.8 | 658.80 |
| N01 | Diaphragmatic hernia | 756.6 | 756.61 |
| N02 | Omphalocele | 756.7 | 756.70 |
| N04 | Gastroschisis | 756.7 | 756.71 |
| SYNDROMES | |||
| 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 |
Appendix 4: Glossary of Terms*
Agenesis Absence of part(s) of the body.
Agenesis, aplasia, or hypoplasia of the lung The absence or incomplete development of a lung or lung tissue.
Anencephaly Congenital absence of the skull, with cerebral hemispheres completely missing or reduced to small masses attached to the base of the skull. Anencephaly is not compatible with life.
Aniridia The complete absence of the iris of the eye or a defect of the iris. Can be congenital or traumatically induced.
Anopthalmia A developmental defect characterized by complete absence of the eyes, or by the presence of vestigial eyes.
Anotia A congenital absence of one or both ears.
Aortic valve stenosis A cardiac anomaly characterized by a narrowing or stricture of the aortic valve. This condition causes abnormal cardiac circulation and pressure in the heart during contractions. This condition can be repaired surgically in some cases.
Atresia Imperforation; absence or closure of a normal opening.
Atrial Septal Defect A congenital cardiac malformation in which there are one or several openings in the atrial septum (muscular and fibrous wall between the right and left atria) allowing a mixing of oxygenated and unoxygenated blood. The openings vary in size and may resolve without treatment or may require surgical treatment. Also called ostium secundum defect.
Biliary atresia A congenital absence or underdevelopment of one or more of the ducts in the biliary tract. Correctable surgically.
Bladder extrophy Incomplete closure of the anterior wall of the bladder and the abdominal cavity. The upper urinary tract is generally normal. Often associated with anorectal and genital malformations, and epispadias. Affected persons are at a markedly increased risk of bladder carcinoma (squamous cell). This condition is usually corrected surgically after birth.
Cataract An opacity (clouding) of the lens of the eye.
Choanal atresia or stenosis A congenital anomaly in which a bony or membranous formation blocks the passageway between the nose and the pharynx. This defect is usually repaired surgically after birth. Bilateral Choanal atresia is a surgical emergency.
Cleft lip The congenital failure of the fetal components of the lip to fuse or join, forming a groove or fissure in the lip. Infants with this condition can have difficulty feeding, and may use assistive devices for feeding. This condition is corrected when the infant can tolerate surgery.
Cleft palate The congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. This defect varies in degree of severity. The fissure can extend into the hard and soft palate and into the nasal cavities. Infants with this condition have difficulty feeding, and may use assistive devices for feeding. Surgical correction is begun as soon as possible. Children with cleft palates are at high risk for hearing problems due to ear infections.
Coarctation of the aorta Localized narrowing of the aorta. This condition causes abnormal cardiac circulation and pressure in the heart during contractions. This condition can vary from mild to severe. Surgical correction is recommended even for mild defects.
Common Truncus Ateriosus A congenital heart defect in which the common arterial trunk fails to divide into pulmonary artery and aorta. This is corrected surgically.
Confidence interval (95%) The interval that contains the true prevalence (which we can only estimate) 95% of the time.
Congenital Existing at or dating from birth.
Congenital hip dislocation A congenital defect in which the head of the femur does not articulate with the acetabulum of the pelvis because of an abnormal shallowness of the acetabulum. Treatment in early infancy consists of bracing of the joint to cause a deepening of the acetabulum.
Conjoined Twins Monozygotic twins who are physically united at birth. The defect can range from a superficial connection to one in which only a single body part is duplicated. Classified as symmetrical or asymmetrical by the degree of separation and development.
Craniosynostosis A premature ossification (closing) of the cranial sutures before birth or soon after birth. This condition is occasionally associated with other skeletal defects. If no surgical correction is made, the growth of the skull is inhibited, and the head is deformed. The eyes and the brain are often damaged.
Diaphragmatic hernia A failure of the diaphragm to form completely, leaving a hole. Abdominal organs can protrude through the hole into the chest cavity and interfere with development of the heart and lungs. Usually life-threatening and requires emergent surgery.
Down syndrome (Trisomy 21) The chromosomal abnormality characterized by an extra copy of chromosome 21. In rare cases this syndrome is caused by translocation. The extra copy can be free-lying, or can be attached to some other chromosome, most frequently number 14. Down syndrome can occur in mosaic. So that there is a population of normal cells and a population of trisomy 21 cells. Down syndrome is characterized by moderate to severe mental retardation, sloping forehead, small ear canals, flat bridged nose and short fingers and toes. One third of infants have congenital heart disease, and one third have duodenal atresia. (Both can be present in the same infant.) Affected people can survive to middle or old age. There is an increased incidence of Alzheimer disease in adults with Down syndrome.
Ebstein anomaly A congenital heart defect in which the tricuspid valve is displaced downward into the right ventricle causing abnormal patterns of cardiac circulation.
Edwards syndrome (Trisomy 18) The chromosomal abnormality characterized by an extra copy of chromosome 18. The extra chromosome can be free lying or attached to another chromosome. Trisomy 18 can occur in mosaic. Edwards syndrome is characterized by mental retardation, neonatal hepatitis, low-set ears, skull malformation and short digits. Cardiac and renal anomalies are also common. Survival for more than a few months is rare
Encephalocele The protrusion of the brain substance through a defect in the skull.
Endocardial cushion defect A variety of septal defects (malformations of the walls separating the two atria and two ventricles of the heart) resulting from imperfect fusion of the endocardial cushions in the embryonic heart.
Epispadias A congenital defect in which the urinary meatus (urinary outlet) opens above (dorsal to) the normal position. The urinary sphincters are defective, so incontinence does occur. Surgical correction is aimed at correcting incontinence and permitting sexual functioning. The corresponding defect in females is rare. See also Hypospadias.
Esophageal Stenosis or Atresia A narrowing or incomplete formation of the esophagus. Usually a surgical emergency. Frequently associated with a Tracheoesophageal Fistula.
Fetal alcohol syndrome A constellation of physical abnormalities (including characteristic abnormal facial features and growth retardation), and problems of behavior and cognition in children born to mothers who drank alcohol during pregnancy.
Fistula An abnormal passage from an internal organ to the body surface or between two internal organs or structures.
Gastroschisis A congenital opening of the abdominal wall with protrusion of the intestines. This condition is surgically treated. Contrast with Omphalocele, below.
Hirschsprung disease The congenital absence of autonomic ganglia (nerves controlling involuntary and reflexive movement) in the muscles of the colon. This results in immobility of the intestines and may cause obstruction or stretching of the intestines. This condition is repaired surgically in early childhood by the removal of the affected portion of the intestine.
Holoprosencephaly Failure of the brain to develop into two equal halves, so there is structural abnormality of the brain. There may be associated midline facial defects including cyclopia (fusion of the eye orbits into a single cavity containing one eye) in severe cases. About half the cases are probably due to a single gene defect (the HPE gene). Frequently occurs with Trisomy 13.
Hydrocephalus The abnormal accumulation of fluid within the spaces of the brain.
Hyperplasia Overgrowth characterized by an increase in the number of cells of a tissue.
Hypoplasia A condition of arrested development in which an organ or part remains below the normal size or in an immature state.
Hypoplastic left heart syndrome Atresia, or marked hypoplasia, of the aortic opening or valve, with hypoplasia of the ascending aorta and defective development of the left ventricle (with mitral valve atresia). This condition can be surgically repaired in a series of three procedures over a period of one year. Transplantation is also a treatment. This condition is usually fatal in the first month of life if not treated.
Hypospadias A congenital defect in which the urinary meatus (urinary outlet) is on the underside of the penis or on the perineum (area between the genitals and the anus). The urinary sphincters are not defective so incontinence does not occur. The condition may be surgically corrected if needed for cosmetic, urologic, or reproductive reasons. The corresponding defect in women is rare. See also epispadias.
Limb defects See Reduction deformities.
Meninges Membranes that cover the brain and spinal cord.
Microcephaly The congenital smallness of the head, with corresponding smallness of the brain.
Microphthalmia The congenital abnormal smallness of one or both eyes. Can occur in the presence of other ocular defects.
Microtia A small or maldeveloped external ear and atretic or stenotic external auditory canal.
Mosaic In genetics, this refers to an individual organism that has two or more kinds of genetically different cell types. The degree of abnormality depends on the type of tissue containing affected cells. Individuals may vary from near normal to full manifestation of the genetic syndrome. Can occur in any chromosome abnormality syndrome.
Neural tube defect A defect resulting from failure of the neural tube to close in the first month of pregnancy. The major conditions include anencephaly, spina bifida, and encephalocele.
Obstructive Genitourinary Defect Stenosis or atresia of the urinary tract at any level. Severity of the defect depends largely upon the level of the obstruction. Urine accumulates behind the obstruction and damages the organs.
Omphalocele The protrusion of an organ into the umbilicus. The defect is usually closed surgically soon after birth. Contrast with Gastroschisis.
Patau Syndrome (Trisomy 13) The chromosomal abnormality caused by a extra chromosome 13. The extra copy can be free-lying, or can be attached to some other chromosome. Patau syndrome can occur in mosaic so that there is a population of normal cells and a population of trisomy 13 cells. Patau syndrome is characterized by impaired midline facial development, cleft lip and palate, polydactyly and mental retardation. Most infants do not survive beyond 6 months of life.
Patent ductus arteriosus A blood vessel between the pulmonary artery and the aorta. This is normal in fetal life, but can cause problems after birth, particularly in premature infants. This condition causes abnormal cardiac circulation and pressure in the heart during contractions. The vast majority close spontaneously and cause no problems. Medical or surgical correction may be done. This is only an abnormality if it causes significant medical problems.
Pulmonary artery anomaly Abnormality in the formation of the pulmonary artery such as stenosis or atresia. See also common truncus.
Pulmonary valve atresia or stenosis A congenital heart condition characterized by absence or constriction of the pulmonary valve. This condition causes abnormal cardiac circulation and pressure in the heart during contractions. This condition can vary from mild to severe. Mild forms are relatively well tolerated and require no intervention. More severe forms are surgically corrected.
Pyloric stenosis A narrowing of the pyloric sphincter at the outlet of the stomach. This causes a blockage of food from the stomach into the small intestine. Usually treated surgically.
Reduction defects of the lower limbs The congenital absence of a portion of the lower limb. There are two general types of defect, transverse and longitudinal. Transverse defects appear like amputations, or like missing segments of the limb. Longitudinal defects are missing rays of the limb (for example, a missing tibia and great toe).
Reduction defects of the upper limbs The congenital absence of a portion of the upper limb. There are two general types of defect, transverse and longitudinal. Transverse defects appear like amputations, or like missing segments of the limb. Longitudinal defects are missing rays of the limb (for example, a missing radius and thumb).
Renal agenesis or dysgenesis The failure, or deviation, of embryonic development of the kidney.
Spina bifida A neural tube defect resulting from failure of the spinal neural tube to close. The spinal cord and/or meninges may or may not protrude. This usually results in damage to the spinal cord with paralysis of the involved limbs. Includes myelomeningocele (involving both spinal cord and meninges) and meningocele (involving just the meninges).
Stenosis A narrowing or constriction of the diameter of a bodily passage or orifice.
Stenosis or atresia of large intestine, rectum and anus The absence, closure or constriction of the large intestine, rectum or anus. Can be surgically corrected or bypassed.
Stenosis or atresia of the small intestine A narrowing or incomplete formation of the small intestine obstructing movement of food through the digestive tract.
Tetralogy of Fallot A congenital cardiac anomaly consisting of four defects: ventricular septal defect, pulmonary valve stenosis or atresia, displacement of the aorta to the right, and hypertrophy of right ventricle. The condition is corrected surgically.
Tracheoesophageal fistula An abnormal passage between the esophagus and trachea. Leads to pneumonia. Corrected surgically. It is frequently associated with esophageal atresia.
Translocation The rearrangement of genetic material within the same chromosome or the transfer of a segment of one chromosome to another one. People with balanced translocations do not always manifest genetic syndromes, but may be carriers of genetic syndromes and can have children with unbalanced translocations. Can occur with any chromosomal anomaly syndrome.
Transposition of the great vessels A congenital malformation in which the aorta arises from the right ventricle and the pulmonary artery from the left ventricle (opposite of normal), so that the venous return from the peripheral circulation is recirculated without being oxygenated in the lungs. Immediate surgical correction is needed. When this is not associated with other cardiac defects, and not corrected, it is fatal.
Tricuspid valve atresia or stenosis A congenital cardiac condition characterized by the absence or constriction of the tricuspid valve. The opening between the right atrium and right ventricle is absent or restricted, and normal circulation is not possible. This condition is often associated with other cardiac defects. This condition is surgically corrected depending on the severity.
Trisomy A chromosomal abnormality characterized by one more than the normal number of chromosomes. Normally, cells contain two of each chromosome. In trisomy, cells contain three copies of a specific chromosome.
Trisomy 13 See Patau Syndrome.
Trisomy 18 See Edwards Syndrome.
Trisomy 21 See Down Syndrome.
Truncus Arteriosus See Common Truncus.
Ventricular Septal Defect (VSD) A congenital cardiac malformation in which there are one or several openings in the ventricular septum (muscular and fibrous wall between the right and left ventricle or right and left lower chambers of the heart) allowing a mixing of oxygenated and unoxygenated blood. The openings vary in size and may resolve without treatment or require surgical treatment.
*Courtesy of the Texas Birth Defects Monitoring Division February 1999
