Janet D. Cragan, Jennifer L. Isenburg, Samantha E. Parker, C.J. Alverson, Robert E. Meyer, Erin B. Stallings, Russell S. Kirby, Philip J. Lupo, Jennifer S. Liu, Amanda Seagroves, Mary K. Ethen, Sook Ja Cho, MaryAnn Evans, Rebecca F. Liberman, Jane Fornoff, Marilyn L. Browne, Rachel E. Rutkowski, Amy E. Nance, Marlene Anderka, Deborah J. Fox, Amy Steele, Glenn Copeland, Paul A. Romitti, Cara T. Mai, for the National Birth Defects Prevention Network
Background
Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging.
Methods
Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant characteristics. Variation in prevalence was examined across case finding methods. Nine programs provided data on head circumference and conditions potentially contributing to microcephaly.
Results
The pooled prevalence of microcephaly was 8.7 per 10,000 live births. Median prevalence (per 10,000 live births) was similar among programs using active (6.7) and passive (6.6) methods; the interdecile range of prevalence estimates was wider among programs using passive methods for all race/ethnicity categories except Hispanic. Prevalence (per 10,000 live births) was lowest among non-Hispanic Whites (6.5) and highest among non-Hispanic Blacks and Hispanics (11.2 and 11.9, respectively); estimates followed a U-shaped distribution by maternal age with the highest prevalence among mothers <20 years (11.5) and ≥40 years (13.2). For gestational age and birth weight, the highest prevalence was among infants <32 weeks gestation and infants <1500 gm. Case definitions varied; 41.8% of cases had an HC ≥ the 10th percentile for sex and gestational age.
Stacy M. Pettigrew, Erin M. Bell, Alissa R. Van Zutphen, Carissa M. Rocheleau, Gary M. Shaw, Paul A. Romitti, Andrew Olshan, Philip J. Lupo, Aida Soim, Jennifer A. Makelarski, Adrian M. Michalski, Wayne Sanderson, and the National Birth Defects Prevention Study
Background
Because of persistent concerns over the association between pesticides and spina bifida, we examined the role of paternal and combined parental occupational pesticide exposures in spina bifida in offspring using data from a large population-based study of birth defects.
Methods
Occupational information from fathers of 291 spina bifida cases and 2745 unaffected live born control infants with estimated dates of delivery from 1997 to 2002 were collected by means of maternal report. Two expert industrial hygienists estimated exposure intensity and frequency to insecticides, herbicides, and fungicides. Multivariable logistic regression models were used to estimate adjusted odds ratios (aOR) and 95% confidence intervals (CI) for exposure to any pesticide and to any class of pesticide (yes/no; and by median), and exposure to combinations of pesticides (yes/no) and risk of spina bifida. Adjusted odds ratios were also estimated by parent exposed to pesticides (neither, mother only, father only, both parents).
RESULTS
Joint parental occupational pesticide exposure was positively associated with spina bifida (aOR, 1.5; 95% CI, 0.9–2.4) when compared with infants with neither maternal nor paternal exposures; a similar association was not observed when only one parent was exposed. There was a suggested positive association between combined paternal insecticide and fungicide exposures and spina bifida (aOR, 1.5; 95% CI, 0.8–2.8), however, nearly all other aORs were close to unity.
Elizabeth C. Ailes, Suzanne M. Gilboa, Simerpal K. Gill, Cheryl S. Broussard, Krista S. Crider, Robert J. Berry, Tonia C. Carter, Charlotte A. Hobbs, Julia D. Interrante, Jennita Reefhuis, and The National Birth Defects Prevention Study
Background
Previous studies noted associations between birth defects and some antibiotics (e.g., nitrofurantoin, sulfonamides) but not others (e.g., penicillins). It is unclear if previous findings were due to antibiotic use, infections, or chance. To control for potential confounding by indication, we examined associations between antibiotic use and birth defects, among women reporting urinary tract infections (UTIs).
Methods
The National Birth Defects Prevention Study is a multi-site, population-based case-control study. Case infants/fetuses have any of over 30 major birth defects and controls are live-born infants without major birth defects. We analyzed pregnancies from 1997 to 2011 to estimate the association between maternally reported periconceptional (month before conception through the third month of pregnancy) use of nitrofurantoin, trimethoprim-sulfamethoxazole, or cephalosporins and specific birth defects, among women with periconceptional UTIs. Women with periconceptional UTIs who reported penicillin use served as the comparator.
Results
Periconceptional UTIs were reported by 7.8% (2029/26,068) of case and 6.7% (686/10,198) of control mothers. Most (68.2% of case, 66.6% of control mothers) also reported antibiotic use. Among 608 case and 231 control mothers reporting at least one periconceptional UTI and certain antibiotic use, compared with penicillin, nitrofurantoin use was associated with oral clefts in the offspring (adjusted odds ratio, 1.97 [95% confidence interval, 1.10–3.53]), trimethoprim-sulfamethoxazole use with esophageal atresia (5.31 [1.39–20.24]) and diaphragmatic hernia (5.09 [1.20–21.69]), and cephalosporin use with anorectal atresia/stenosis (5.01 [1.34–18.76]).
Amy Acheson, Anika Vaidy, Kathleen Stomieroski, Dana R. Thompson, Kristin M. Maiden, Deborah B. Ehrenthal, Samir Yezdani, Abdul Majeed Bhat, Robert Locke, Louis E. Bartoshesky
Background
The prevalence of ventricular septal defects (VSDs), a birth defect in which there is an opening in the wall that separates the left and right ventricles of the heart, seemed to be substantially higher in Delaware compared with the National Birth Defects Prevention Network (NBDPN). The Delaware Birth Defects Registry (BDR) noted their high prevalence of VSDs in comparison with other states.
Methods
A subset of children with a VSD born in 2007 through 2010 was identified from the complete reportable statewide defect list that the BDR creates each year. VSDs were categorized by type of VSD (muscular, perimembranous, conotruncal, or atrioventricular septal defect), by either isolated or complex, and then by spontaneously closed, surgically closed, open but clinically insignificant, lost to follow-up, fetal or neonatal death.
Results
The BDR team found a prevalence of VSD of 83.4 per 10,000 including fetal/neonatal deaths. Excluding fetal and neonatal deaths the prevalence was 78.7 per 10,000 live births. Excluding small muscular VSDs, the prevalence in Delaware falls to 25.7 per 10,000.
Carrie L. Heike, Erin Wallace, Matthew L. Speltz, Babette Siebold, Martha M. Werler, Anne V. Hing, Craig B. Birgfeld, Brent R. Collett, Brian G. Leroux, Daniela V. Luquetti
Background
Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features.
Methods
Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires.
Results
The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1–17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21).
Meredith M. Howley, Marilyn L. Browne, Alissa R. Van Zutphen, Sandra D. Richardson, Sarah J. Blossom, Cheryl S. Broussard, Suzan L. Carmichael, Charlotte M. Druschel, for the National Birth Defects Prevention Study
Background
Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case–control study.
Methods
Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases.
Results
Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95–11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37–24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16–7.80).
Timothy J. Flood, Chelsea M. Rienks, Alina L. Flores, Cara T. Mai, Barbara K. Frohnert, Rachel E. Rutkowski, Jane A. Evans, Russell S. Kirby
Background
Once a woman has had a fetus or infant affected with a neural tube defect (NTD), the risk of recurrence is approximately 3%. This risk can be significantly reduced by folic acid supplement consumption during the periconceptional period; however, this requires women at risk to be adequately informed about the appropriate dosage and timing of supplement intake before planning another pregnancy. As birth defects surveillance programs are tasked with identifying and documenting NTD-affected pregnancies and births, they are in a unique position to support recurrence prevention activities.
Methods
In 2015, we surveyed state and provincial birth defects surveillance programs to assess their NTD recurrence prevention activities. The online survey was sent to programs in 52 United States (U.S.) jurisdictions and all 13 provinces and territories in Canada. Findings were compared with a similar survey conducted in 2005 among U.S. programs.
Results
In 2015, of the 44 U.S. and Canadian surveillance programs that responded, only 9 programs (7 U.S. and 2 Canadian) reported currently having activities specifically directed toward preventing NTD recurrence. Compared with a 2005 survey of U.S. programs, the number of U.S. programs working on NTD recurrence prevention decreased by almost 50% (from 13 to 7 programs).
The birth defects component of the Western Australian Register for Developmental Anomalies (WARDA-BD) was evaluated to assess its efficiency, effectiveness, and data quality.
Methods
WARDA-BD was evaluated using the Centers for Disease Control and Prevention 2001 Guidelines for Evaluating Public Health Surveillance Systems and Data Quality Standards from the National Birth Defects Prevention Network. The evaluation included interviews with Register staff, local community organizations, parents, clinicians, and researchers; process observation; and secondary data analyses.
Results
WARDA-BD is a statutory, statewide, population-based surveillance system established in 1980 that monitors approximately 30,000 births annually. Identification of eligible cases is for children up to age 6 years through active and passive ascertainment methods from multiple sources including birth, death, and hospitalization data; antenatal ultrasonography; hospital unit logs; medical records; fetal medicine departments; cytogenetic laboratories; specialty clinics; and pediatric surgery and pathology departments. Defect diagnoses are verified and coded using the 5-digit British Paediatric Association extension of the International Classification of Disease, Ninth Revision system. Register staff monitor Register data for completeness and accuracy resulting in high quality data with a low percentage of missing items.
Alexander C. Allori, Janet D. Cragan, Cynthia H. Cassell, Jeffrey R. Marcus
Background
On October 1, 2015, the United States required use of the Clinical Modification of the International Classification of Diseases, 10th Revision (ICD-10-CM) for diagnostic coding. The ICD-10-CM code set is limited to gross categories for cleft lip and/or cleft palate (using only four of a possible seven characters).
Methods
Herein, a clinically useful expansion of the ICD-10-CM code set is proposed to improve the diagnostic accuracy necessary for individual clinical, research, and statistical projects that require it. (This is similar to how the Centers for Disease Control and Prevention/British Pædiatric Association Code served to extend the ICD-9 code base.)
Results
Our proposed expansion does not replace the required use of ICD-10-CM for clinical, administrative, or financial transactions. Rather, it is offered as an optional set of cleft codes that could be used in parallel to document true classification-level data with phenotypic accuracy.
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