Alaska Birth Defects Registry
Nationally reportable major congenital anomalies (N=47)
2008-2012 birth years (N = 56,810)
| Defect | Reports | Report Prevalence (95%CI) | PPV | NPV | Estimated Defects | Defect Prevalence (95%CI) |
|---|---|---|---|---|---|---|
| Cardiovascular | ||||||
| Aortic valve stenosis | 11 | 1.9 (1.0,3.5) | NA | |||
| Atrial septal defect | 908 | 159.8 (149.6,170.6) | NA | |||
| Atrioventricular septal defect | 36 | 6.3 (4.4,8.8) | NA | |||
| Coarctation of the aorta | 26 | 4.6 (3.0,6.7) | NA | |||
| Common truncus | 16 | 2.8 (1.6,4.6) | NA | |||
| Double outlet right ventricle | 10 | 1.8 (0.8,3.2) | NA | |||
| Ebstein anomaly | 9 | 1.6 (0.7,3.0) | NA | |||
| Hypoplastic left heart syndrome | 8 | 1.4 (0.6,2.8) | NA | |||
| Inerrupted aortic arch | 27 | 4.8 (3.1,6.9) | NA | |||
| Pulmonary valve atresia and stenosis | 81 | 14.3 (11.3,17.7) | NA | |||
| Single ventricle | 8 | 1.4 (0.6,2.8) | NA | |||
| Teratology of fallot | 33 | 5.8 (4.0,8.2) | NA | |||
| Total anomalous pulmonary venous sonnection | 10 | 1.8 (0.8,3.2) | NA | |||
| Transposition of the great arteries | 26 | 4.6 (3.0,6.7) | NA | |||
| Tricuspid valve atresia and stenosis | - | - | NA | |||
| Ventricular septal defect | 575 | 101.2 (93.1,109.8) | NA | |||
| Central Nervous System | ||||||
| Anencephalus | 12 | 2.1 (1.1,3.7) | 0.3929 | 1.0000 | 4.7 | 0.8 (0.3,1.8) |
| Spina bifida without anencephalus | 15 | 2.6 (1.5,4.4) | 0.5946 | 0.9999 | 12.4 | 2.2 (1.2,3.7) |
| Encephalocele | 16 | 2.8 (1.6,4.6) | 0.3778 | 1.0000 | 6.4 | 1.1 (0.5,2.3) |
| Holoprosencephaly | 58 | 10.2 (7.8,13.2) | NA | |||
| Chromosomal | ||||||
| Deletion 22 q11 | - | - | NA | |||
| Trisomy 13 | 9 | 1.6 (0.7,3.0) | 0.5000 | 1.0000 | 4.5 | 0.8 (0.3,1.8) |
| Trisomy 18 | 12 | 2.1 (1.1,3.7) | 0.5833 | 1.0000 | 7.0 | 1.2 (0.5,2.5) |
| Trisomy 21 (Down syndrome) | 100 | 17.6 (14.3,21.4) | 0.8182 | 0.9999 | 87.3 | 15.4 (12.4,18.9) |
| Turner syndrome* | 7 | 2.5 (1.0,5.2) | NA | |||
| Ear | ||||||
| Anotia / microtia | 23 | 4.0 (2.6,6.1) | NA | |||
| Eye | ||||||
| Anophthalmia / microphthalmia | 9 | 1.6 (0.7,3.0) | NA | |||
| Congenital cataract | 31 | 5.5 (3.7,7.7) | NA | |||
| Gastrointestinal | ||||||
| Biliary atresia | 14 | 2.5 (1.3,4.1) | NA | |||
| Esophageal atresia / tracheoesophageal fistula | 15 | 2.6 (1.5,4.4) | NA | |||
| Rectal and large intestinal atresia / stenosis | 56 | 9.9 (7.4,12.8) | NA | |||
| Small intestinal atresia / stenosis | 37 | 6.5 (4.6,9.0) | NA | |||
| Genitourinary | ||||||
| Bladder exstrophy | - | - | NA | |||
| Cloacal exstrophy | - | - | NA | |||
| Congenital posterior urethral valves | 49 | 8.6 (6.4,11.4) | NA | |||
| Hypospadias** | 324 | 110.5 (98.8,123.2) | 0.8618 | 0.9996 | 289.4 | 98.7 (87.9,110.6) |
| Renal agenesis / hypoplasia | 51 | 9.0 (6.7,11.8) | NA | |||
| Musculoskeletal | ||||||
| Clubfoot | 208 | 36.6 (31.8,41.9) | NA | |||
| Craniosynostosis | - | - | NA | |||
| Diaphragmatic hernia | 32 | 5.6 (3.9,8.0) | 0.7083 | 0.9999 | 25.7 | 4.5 (3.0,6.5) |
| Gastroschisis | 29 | 5.1 (3.4,7.3) | 0.6174 | 1.0000 | 20.5 | 3.6 (2.3,5.4) |
| Limb deficiencies | 67 | 11.8 (9.1,15.0) | NA | |||
| Omphalocele | 71 | 12.5 (9.8,15.8) | 0.1856 | 1.0000 | 13.3 | 2.3 (1.3,3.9) |
| Orofacial | ||||||
| Choanal atresia | 18 | 3.2 (1.9,5.0) | NA | |||
| Cleft lip with celft palate | 49 | 8.6 (6.4,11.4) | NA | |||
| Cleft lip alone | 22 | 3.9 (2.4,5.9) | NA | |||
| Cleft palate alone | 75 | 13.2 (10.4,16.5) | NA | |||
|
Ref: NA = Information not available as of publication; ‘-’ = supressed for cell counts <6; 95% CI = 95% Confidence Interval; g = grams, PPV = Positive Predictive Value; NPV = Negative Predictive value *per 10,000 live female births **per 10,000 live male births |
||||||
Note: The Alaska Birth Defects Registry (ABDR) was established and operates under Alaska statute 7 AAC 27.012. Statue allows reports to by age six years of a child. This report includes defects reported before the 3rd birthday.
Column descriptions:
Defect = The Nationally reportable birth defect grouping name.
Reports = Unless otherwise noted, the number of unique reports of defect received by ABDR during the specified birth year(s). Each report represents a unique child with specified defect.
Report Prevalence (95% CI) = The number of reported defects divided by the number of Alaska resident in-state births (Children can be reported multiple times. they are counted only once for each condition).
PPV = The probability of being defect positive given being reported for the defect.
NPV = The probability of being defect negative given not being reported for the defect.
Estimated Defects = The estimated number of defects based on the report prevalence, PPV, and 1-NPV.
Defect Prevalence (95% CI) = The estimated defect prevalence calculated using a Bayesian approach based on the reported prevalence, PPV and 1-NPV (see formula below).
*Through medical records review and case confirmation of a random sample of reported cases, the defect prevalence is calculated as:
\[PPV (Positive Predictive Value) = p(defect)|report)\] \[NPV (Negative Predictive Value) = p(\overline{defect}|\overline{report})]\]
\[p(defect) \approx [p(report)\cdot PPV]+[p(\overline{report})\cdot 1-NPV)]\]
Defect prevalence estimates are a more accurate estimation of the actual diagnosed prevelance of birth defects compared to the reported prevelance estimates in Alaska. ABDR obtains reports from medical providers using International Classification of Disease (ICD) codes that are extracted from individual systems which when aggregated may not reflect true diagnostics. Caution should be used when interpreting and comparing the reported prevalence estimates with national estimates.
Condition Notes:
Cleft Lip (CL), Cleft Palate (CP), and Cleft Lip and Palate (CLP) are coded to be mutually exclusive groups.Because an individual can be reported multiple times and for any condition, this coding ensures that for these cleft conditions the classifications conform to the expectation of being mutually exclusive.
- Cleft lip alone includes reports without Cleft palate (CP) or cleft lip and palate (CLP)
- Cleft palate alone includes reports without Cleft lip (CL) or cleft lip and palate (CLP)
- Cleft lip and palate includes reports of both Cleft lip (CL) and Cleft palate (CP), Cleft lip and palate (CLP) or any other combination of Cleft lip (CL) or Cleft palate (CP) with cleft lip and palate (CLP)
Hypospadias is restricted to male births (N = 29314).
Turner Syndrome is restricted to female births (N = 27496).
Resources:
National Birth Defects Prevention Network
Centers for Diesase Control and Prevention
Contact
Alaska Birth Defects Registry (ABDR)
3601 C Street, Suite 358
Anchorage, AK 99503
(907) 269-3400 phone
(907) 754-3529 fax
hssbirthdefreg@alaska.gov
Updated: September 1, 2017
Code source: R:\ABDR\Analysis_New\Published Data\Prevalence09.13.Rmd
