Congenital Malformations Registry - 2006 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 Amniotic Bands
740 - 759* Congenital Anomalies
760.71 Fetal Alcohol Syndrome
771.0 - 771.2 Congenital Infections: including rubella, cytomegalovirus toxoplasmosis and herpes simplex
*See list of minor and excluded codes
Minor Malformations
214 Lipoma
216 Benign neoplasm of skin
228.01 Hemangioma of skin
550 Inguinal hernia in males
553.1 Umbilical hernia
743.65 Specified congenital anomalies of lacrimal passages
744.1 Accessory auricle
744.29 Other specified anomalies of ear
744.3 Unspecified anomaly of ear
744.4 Branchial cleft cyst
744.89 Other specified anomalies of face and neck
744.9 Other unspecified anomalies of face and neck
747.0 Patent ductus arteriosis, if birth weight <1500 grams
747.5 Single umbilical artery
752.41 Embryonic cyst of cervix, vagina and external female genitalia
752.42 Imperforate hymen
752.5 Undescended testicle, if birth weight < 2500 grams
754.61 Congenital pes planus
755.0 Polydactyly
755.11, 755.13 Syndactyly without fusion of bone
757.2 Dermatoglyphic anomalies
757.32 Vascular hamartomas
757.33 Congenital pigmentation anomalies of skin
757.39 Other anomalies of skin
757.4 Specified anomalies of hair
757.5 Specified anomalies of nails
757.6 Specified anomalies of breast
757.8 Other specified anomalies of integument
757.9 Unspecified anomalies of the integument
Exclusions
750.0 Tongue tie
758.4 Balanced autosomal translocation in normal individual
778.6 Congenital hydrocele

References

  1. Marden PM, Smith DW, McDonald MJ. Congenital anomalies in the newborn infant including minor variations. J Pediat 1964; 64:357-371.
  2. 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.
  3. 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<.
  4. Myrianthopoulos NC, Chung CS. Congenital malformations in singletons: epidemiologic survey. Birth Defects: Original Article Series, 1974; X: 2-3, 51-58.
  5. 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 records for a given year to the CMR file of cases who were born in that year. A deterministic matching method is applied to identify all possible matches, using combinations of identifying variables such as name, date of birth, medical record number and mother's name and address information. Matching scores are assigned to each criterion. Assigning different points to different identifiers provides a way to recognize variations in quality or reliability of different data items. The records are compared on identifying variables that are available 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.

The matching process is repeated until about 95 percent of reported cases are matched. This is a compromise between completeness and efficiency. After about 90 percent 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: Case Ascertainments and Data Quality Assurance

The CMR uses the method of passive case ascertainment of birth defects that occur among live births, with an active follow-up for assuring the accuracy and completeness of case reporting. Birth defect cases reported from hospitals and physicians are reviewed and the diagnoses are coded by the registry's trained staff. Reporting hospitals and physicians are contacted for cases that have insufficient diagnostic information for coding. CMR staff recognizes that completeness, accuracy and timeliness are the hallmarks of a good surveillance system. However, these attributes exist in tension, "conflicting principles" (Kallen 1988). Steps taken to improve completeness and accuracy may actually reduce timeliness. From the very beginning, the CMR has built in procedures to improve the quality of the data in the CMR. These systems have changed over time (Sekhobo and Druschel 2001; Druschel et al, 2001) and the CMR now has three major approaches to improving data quality: 1) matching to hospital discharge data, the Statewide Planning and Research Cooperative System (SPARCS) for completeness; 2) the web-based reporting system, the Health Provider Network (HPN) for timeliness and completeness; 3) on-site hospital audits for completeness and accuracy. In addition, we also periodically request medical records and compare them to the hospital's report for an additional review of accuracy.

SPARCS Audits

For the SPARCS audit, children age 2 years or younger and diagnosed with reportable birth defects are selected from SPARCS files of all reporting hospitals and matched to the CMR database for the same birth year period. As about 90 percent of children reported to the CMR were diagnosed in the first six months of life, CMR staff begin to audit hospitals 12 to 24 months after the reporting period for each year of birth. Unmatched reports from the SPARCS hospital discharge files are sent to the hospital, requesting submission of the missed reports. A recent study (Wang et al, 2005) demonstrated that using hospital discharge data to improve case ascertainment is a valuable and effective method of enhancing birth defect surveillance, particularly for those hospitals with low reporting rates. Hospital audits resulted in not only added new reports (comprised 21.4 percent of all CMR reports) to the CMR but also improved reporting for subsequent years, probably due to hospitals' positively reacting to the audits. Auditing hospitals by CMR staff sent a message to reporting hospitals that both the quality and the quantity of their reports are closely monitored.

HPN Reporting

A web-based reporting, data management and communication system has been successfully developed and implemented by CMR staff (Wang et al, 2007a, Steen et al, 2008). After pilot testing with two hospitals in 2001, the system was phased in for reporting in 2003. By January 2006, the CMR had converted all reporting hospitals statewide from a manual, paper-based reporting system to the web-based system. This new system provides a platform-independent environment for data submission, retrieval and analysis and offers a secure, cost-effective solution for participating hospitals. An authorized user can submit/edit data and view, update or query their case information dynamically from the CMR's database using any personal computer equipped with an internet browser from any geographic area throughout the state. This innovative system enables CMR staff to review and perform quality assurance on every report submitted and to query hospitals quickly about submitted reports. A study that evaluated the completeness of submitted case information and timeliness of reporting to the CMR and the effectiveness of the HPN communication and query system when compared to the previous manual, paper-based system found that the implementation of the HPN system has resulted in more timely submission of cases and promoted effective communication between the CMR and reporting hospitals. There was a nearly 50 percent reduction in median days used for reporting. (Wang et al, 2007b).

Monitoring Hospital Reporting

CMR staff have developed on-line SAS/IntrNet applications which empower the users to search and retrieve hospital submitted cases, generate real-time reports and perform simple statistical analysis using the CMR's database (Wang et al, 2008). For instance, CMR staff can select a reporting hospital and discharge years of interest and then, generate a real-time report table which lists the number of cases by discharge year and month. By reviewing this report, CMR staff are able to identify hospitals with unusual reporting patterns or problems, for instance, if they stopped or skipped reporting for certain months or years.

On-site Hospital Audits

On-site hospital audits began in August of 2003 as an additional surveillance tool. CMR staff needed to know if all malformations were being captured from medical records, and if the reports were complete and accurate. This was piloted in 2002 and implemented in 2003. The procedure begins when the CMR announces to the hospital that they will be making an "in-house chart review or audit" and requests the hospital in question to send a discharge summary for all children 2 years of age and younger for a specific discharge period, usually one year. The list includes all children discharged in that given year, not just those with a congenital code. This is done so that reportable conditions that may have been miscoded can be identified. CMR staff review the discharge list, comparing it to the list of children who have already been reported to the CMR. A list of reported, not reported and partially reported cases is made. Depending on the time frame and number of auditors available, the entire list or a subset of this list will be sent to the hospital and they will be requested to produce the charts so that CMR staff can review them. CMR staff will spend between 1 and 2 days at a facility reviewing records. At the completion of the review, the facility will be asked to report any case that is considered by the CMR staff as reportable but not previously reported as well as any partially reported cases that need to be completed. A written summary of the audit findings is sent to the Director of Health Information Management including comments that may indicate what chronic reporting problems were evident. Since 2003, 87 hospitals have had an "in-house" audit; 4913 charts have been reviewed; 1835 cases that were not previously reported were flagged and subsequently reported, 430 cases that were partially reported were completed and 187 cases with incorrect diagnoses reported were corrected or deleted.

Hospital Report Card

In order to improve the completeness of case reporting and the accuracy of reported cases, CMR staff have developed an on-line application to generate report cards for hospitals to track their reporting progress in 2008. The first report card summarizing reporting status and progress of hospitals for the reporting period of June 1 - December 31, 2007 was sent to each individual hospital in April 2008. The report cards for all reporting hospitals are generated bi-annually and made available online for the hospital officials.

Summary

Surveillance requires on-going efforts to respond to changes in resources and technologies. There must also be constant communication and feedback between the reporting sources and the surveillance system. The CMR has developed several methods to monitor and improve the system's completeness, accuracy and timeliness. CMR staff recognize that as a 'passive' reporting system much additional work must be done to be able to provide data of good quality. While 'active'case ascertainment systems seem to provide more completeness and accuracy, they require much higher funding levels and many more staff. In this era of cutbacks, these funding levels can be difficult to maintain and some of these systems have been forced to reduce their activities or decrease their areas of coverage. The CMR has seen many staff reductions over the years but by making use of new technologies has been able to improve the system. However, further improvements are needed and the CMR will continue to review procedures and develop new methods. The CMR is currently investigating ways to use hospital discharge summaries (most of which are electronic) as an additional source of case finding. As more and more hospitals go to electronic medical records, these might also assist us in case finding and confirmation of diagnoses. Birth defects are a serious health issue for affected infants and children and their families. With so many different conditions, surveillance of birth defects can be challenging but must be done so that they can be tracked and studied.

References

Druschel C, Sharpe-Stimac M, Cross P. Process of and Problems in Changing a Birth Defects Registry Reporting System. Teratology 2001;64:S30-S36.

Kallen B. Epidemiology of Human Reproduction. CRC Press, Boca Raton.

Sekhobo JP, Druschel CM. An Evaluation of Congenital Malformations Surveillance in New York State: An application of Centers for Disease Control and Prevention Guidelines for Evaluation Surveillance Systems. Public Health Reports 2001;116:296-302.

Steen PK, Wang Y, Tao Z, Cross PK, Druschel CM. Implementing a Web-based Case Reporting and Communication System Among Hospitals Reporting to the Birth Defects Registry in New York State. J Public Health Manag Pract. 2008; 14(6):E11-E16.

Wang Y, Sharpe-Stimac M, Cross PK, Druschel CM, Hwang SA. Improving Case Ascertainment of a Population-Based Birth Defects Registry in New York State Using Hospital Discharge Data. Birth Defect Research Part A, 2005, 73:663-668.

Wang Y, Cross PK, Steen PK, Tao Z, Druschel CM, Cukrovany JL, Marion DR, Hwang SA. Development of a Web-based Case Reporting, Management and Communication System for the Statewide Birth Defects Registry in New York State. J Registry Management. 2007a; 34(2):45-52.

Wang Y, Tao Z, Cross PK, Hwang SA. Evaluating the Timeliness and Completeness of a Web-based Reporting and Communication System of the New York State Congenital Malformations Registry. J Registry Management. 2007b; 34(4): 93-98.

Wang Y, Tao Z, Cross PK, Le LH, Steen PK, Babcock GD, Druschel CM, Hwang SA.

Development of a Web-based Integrated Birth Defects Surveillance System in New York State. J Public Health Manag Pract. 2008; 14(6):E1-10.

Appendix 4: 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 Code
CENTRAL NERVOUS SYSTEM
A01 Anencephaly 740.0, 740.1, 740.2 740.00, 740.01, 740.02, 740.03, 740.08, 740.10, 740.20, 740.21, 740.29
A02 Spina Bifida with Hydrocephaly 741.00, 741.01, 741.02, 741.03 741.000, 741.001, 741.002, 741.003, 741.004, 741.008, 741.009, 741.011, 741.012, 741.013, 741.014, 741.018, 741.019, 741.021, 741.022, 741.023, 741.024, 741.028, 741.029-741.599
A03 Spina Bifida without Hydrocephaly 741.90, 741.91, 741.92, 741.93 741.701, 741.702, 741.703, 741.704, 741.708, 741.709- 741.999
A13 Encephalocele 742.0 742.000, 742.080, 742.085, 742.086, 742.090
A15 Hydrocephaly 742.3 742.300, 742.310, 742.320, 742.380, 742.390
A16 Microcephalus 742.1 742.100, 742.150
EYE / EAR
B01 Anophthalmia, Microphthalmia 743.00, 743.10, 743.11, 743.12 743.0000, 743.1000, 743.1009, 743.0003, 743.0006, 743.1001, 743.1002
B03 Glaucoma 743.20, 743.21, 743.22 743.2000, 743.210, 743.2001, 743.220
B04 Cataract 743.30, 743.31, 743.32, 743.33, 743.34, 743.35, 743.36, 743.37, 743.39 743.320, 743.325, 743.3261, 743.3262, 743.3263, 743.3264, 743.300, 743.310, 743.340, 743.3806, 743.330, 743.3269, 743.3809, 743.390
B54 Ear anomaly with hearing loss 744.00, 744.01, 744.02, 744.03, 744.04, 744.05, 744.09 744.0001, 744.0101, 744.0002, 744.0902, 744.0203, 744.0204 744.030, 744.0109, 744.0900
CARDIAC
D01 Truncus arteriosus 745.0 745.000, 745.010
D02 Transposition of great vessels 745.10, 745.11, 745.12, 745.19 745.1001, 745.110, 745.1801, 745.120, 745.1809, 745.190
D03 Tetralogy of Fallot 745.2 745.200, 745.210
D04 Single ventricle 745.3 745.300
D05 VSD 745.4 745.480, 745.485, 745.486, 745.487, 745.490
D52 Hypoplastic left heart 746.7 746.700
D53 Total anomalous pulmonary venous return 747.41 747.420
RESPIRATORY
E01 Choanal atresia 748.0 748.000
E06 Agenesis of lung 748.5 748.500, 748.510, 748.520, 748.580, 748.590
CLEFTS
F01 Cleft palate 749.00, 749.01, 749.02, 749.03, 749.04 749.010, 749.020, 749.030, 749.050, 749.060, 749.070, 749.090, 749.001, 749.002, 749.003, 749.041, 749.042, 749.043, 749.0
F02 Cleft lip with or without cleft palate 749.10, 749.11, 749.12, 749.13, 749.14, 749.20, 749.21, 749.22, 749.23, 749.24, 749.25 749.1010, 749.1020, 749.1030, 749.1100, 749.120, 749.1901, 749.1011, 749.1021, 749.1031, 749.1012, 749.1022, 749.1032, 749.1103, 749.1104, 749.2900, 749.2011, 749.2021, 749.2031, 749.2012, 749.2022, 749.2032, 749.2103, 749.2104, 749.2015, 749.2025, 749.2035, 749.2105, 749.2203, 749.2905
GASTRO-INTESTINAL
F14 Stenosis or atresia of duodenum 751.1 751.100
F15 Other stenosis or atresia of small intestine 751.1 751.110, 751.120, 751.190, 751.195
F16 Stenosis or atresia of rectum or anus 751.2 751.210, 751.220, 751.230, 751.240
F17 Hirschsprung's Disease 751.3 751.300, 751.310, 751.320, 751.303
F18 Malrotation of intestine 751.4 751.400, 751.410, 751.420, 751.490, 751.495
F21 Biliary atresia 751.61 751.6501
GENITO-URINARY
H01 Renal agenesis 753.0 753.000, 753.009, 753.010
H06 Obstruction of kidney or ureter 753.20, 753.21, 753.22 753.220, 753.221, 753.240, 753.241, 753.242, 753.243, 753.244, 753.290, 753.299
H09 Bladder or urethra obstruction 753.6 753.600, 753.610, 753.620, 753.630, 753.690
MUSCULOSKELETAL
J02 Curvature of spine (scoliosis or lordosis) 754.2 754.200, 754.210, 754.220
J03 Dislocation of hip 754.30, 754.31 754.3000, 754.3010, 754.3020, 754.3030
J11 Arthrogryposis multiplex congenita 754.89 755.800
K01 Reduction deformity - upper limb 755.20, 755.21, 755.22, 755.23, 755.24, 755.25, 755.26, 755.27, 755.28, 755.29 755.200, 755.230, 755.240, 755.2901, 755.5851, 755.2602, 755.265, 755.2702, 755.280, 755.2902, 755.210, 755.218, 755.220, 755.2606, 755.2707, 755.2801, 755.247, 755.2609, 755.2709, 755.2900, 755.5800, 755.5850, 755.59859
K02 Reduction deformity - lower limb 755.30, 755.31, 755.32, 755.33, 755.34, 755.35, 755.36, 755.37, 755.38, 755.39 755.300, 755.330, 755.3401, 755.33901, 755.6851, 755.360, 755.380, 755.3103, 755.3104, 755.318, 755.3801, 755.320, 755.365, 755.366, 755.3802, 755.3409, 755.3900, 755.6859
K05 Amniotic bands 658.80 658.801
N01 Diaphragmatic hernia 756.6 756.610, 756.615, 756.616
N02 Omphalocele 756.79 756.700
N04 Gastroschisis 756.79 756.710
SYNDROMES
R01 Down Syndrome 758.0 758.000, 758.010, 758.020, 758.030, 758.040, 758.050, 758.09
R02 Patau Syndrome (Trisomy 13) 758.1 758.100, 758.110, 758.120, 758.130, 758.140, 758.150, 758.190
R03 Edwards Syndrome (Trisomy 18) 758.2 758.200, 758.210, 758.220, 758.230, 758.290, 758.295, 758.296
S02 Fetal Alcohol Syndrome 760.71 760.710, 760.715, 760.718
W03 Conjoined twins 759.4 759.400, 759.410, 759.420, 759.430, 759.440, 759.480, 759.490

Appendix 5 - Glossary of Birth Defects and Related Terms

(Courtesy of the Texas Birth Defects Monitoring Division, August 2008 )

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.
Anomalies of the tricuspid valve
Includes tricuspid valve atresia or stenosis, as well as enlargement, dilation, or aneurysm of the tricuspid valve. See also tricuspid valve atresia or stenosis.
Anophthalmia
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.
Aorta
The large arterial trunk that carries blood from the heart to be distributed by branch arteries through the body
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.
Atrium
One of the two upper chambers of the heart (plural atria). The right atrium receives unoxygenated blood from the body. The left atrium receives oxygenated blood from the lungs.
Biliary atresia
A congenital absence or underdevelopment of one or more of the ducts in the biliary tract. Correctable surgically.
Birth prevalence
# of cases with birth defect A in an area and time period
________________________________________________X 10,000
# of live births in that area and time period
Bladder exstrophy
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.
Cluster
An apparently unusual concentration of a health condition in a particular area and time period.
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 percent)
The interval that contains the true prevalence (which we can only estimate) 95 percent of the time. See Methods for more explanation.
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.
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.
Dysgenesis
Impaired or faulty development of part(s) of the body.
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.
Embryogenesis
The development and growth of an embryo, especially the period from the second through the eighth week after conception.
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.
Folate
B vitamin necessary for red blood cell production; folate deficiency can lead to anemia and, during embryogenesis, can affect the normal development of the fetus' neural tube; found in liver, green leafy vegetables, beans, beets, broccoli, cauliflower, citrus fruits, and sweet potatoes. See folic acid.
Folic acid
One of the B vitamins especially important for a woman to take before conception to help prevent neural tube defects in a fetus; essential for DNA synthesis and therefore the growth and division of cells; obtained from fortified foods or from a multivitamin containing at least 4mg; also found in natural sources including liver, beans, and leafy green vegetables. While folate and folic acid are both forms of water-soluble B vitamins, folic acid refers to the synthetic vitamin used in supplements, whereas folate is the form found in foods.
Gastroschisis
A congenital opening of the abdominal wall with protrusion of the intestines. This condition is surgically treated. Contrast with Omphalocele, below.
Hernia
A protrusion of an organ or part through connective tissue or through a wall of the cavity in which it is normally enclosed.
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.
Hydrocephaly
The abnormal accumulation of fluid within the spaces of the brain.
Hyperplasia
Overgrowth characterize 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 defects.
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.
Ostium secundum defect
See atrial septal defect.
Patau syndrome (Trisomy 13)
The chromosomal abnormality caused by an 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.
Poisson regression
a type of statistical analysis based on the Poisson distribution used to compare rates of rare occurrences such as birth defects between different population groups, different areas, or different times.
Prevalence
With respect to the prevalence of birth defects, see "Birth prevalence".
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 septaldefect, 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
(The chromosomal abnormality caused by an extra chromosome 13. The extra copy can be free-lying, or can be attached to some other chromosome. Trisomy 13 can occur in mosaic so that there is a population of normal cells and a population of trisomy 13 cells. Trisomy 13 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.
Trisomy 18 (Edwards Syndrome)
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 so that there is a population of normal cells and a population of trisomy 18 cells. Trisomy 18 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.
Trisomy 21 (Down Syndrome)
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. Trisomy 21 can occur in mosaic, so that there is a population of normal cells and a population of trisomy 21 cells. Trisomy 21 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 Trisomy 21.
Truncus arteriosus
See Common truncus.
Ventricle
One of the two lower chambers of the heart (plural ventricles). The right ventricle sends blood to the lungs, and the left ventricle passes oxygen-rich blood to the rest of the body.
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