ABSTRACT
OBJECTIVE: To evaluate the hypothesis that childhood survival for individuals with Down syndrome (DS) and congenital heart defects (CHDs) has improved in recent years, approaching the survival of those with DS without CHDs. STUDY DESIGN: Individuals with DS born from 1979 to 2018 were identified through the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects surveillance system administered by the Centers for Disease Control and Prevention. Survival analysis was performed to evaluate predictors of mortality for those with DS. RESULTS: The cohort included 1671 individuals with DS; 764 had associated CHDs. The 5-year survival in those with DS with CHD improved steadily among individuals born in the 1980s through the 2010s (from 85% to 93%; P = .01), but remained stable (96% to 95%; P = .97) in those with DS without CHDs. The presence of a CHD was not associated with mortality through 5 years of age for those born 2010 or later (hazard ratio, 2.63; 95% CI, 0.95-8.37). In multivariable analyses, atrioventricular septal defects were associated with early (<1 year) and late (>5 year) mortality, whereas ventricular septal defects were associated with intermediate (1-5 years) mortality and atrial septal defects with late mortality, when adjusting for other risk factors. CONCLUSIONS: The gap in 5-year survival between children with DS with and without CHDs has improved over the last 4 decades. Survival after 5 years remains lower for those with CHDs, although longer follow-up is needed to determine if this difference lessens for those born in the more recent years.
Subject(s)
Down Syndrome , Heart Defects, Congenital , Heart Septal Defects, Atrial , Heart Septal Defects, Ventricular , Heart Septal Defects , Child , Humans , Down Syndrome/epidemiology , Heart Defects, Congenital/epidemiology , Heart Septal Defects/complicationsABSTRACT
The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five-year survival probability of 94.6%. The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation.
Subject(s)
Aortic Coarctation , Turner Syndrome , Infant , Female , Pregnancy , Humans , United States/epidemiology , Turner Syndrome/epidemiology , Turner Syndrome/genetics , Prevalence , Aortic Coarctation/epidemiology , Ethnicity , Racial GroupsABSTRACT
Changing treatments and medical costs necessitate updates to hospitalization cost estimates for birth defects. The 2019 National Inpatient Sample was used to estimate the service delivery costs of hospitalizations among patients aged <65 years for whom one or more birth defects were documented as discharge diagnoses. In 2019, the estimated cost of these birth defect-associated hospitalizations in the United States was $22.2 billion. Birth defect-associated hospitalizations bore disproportionately high costs, constituting 4.1% of all hospitalizations among persons aged <65 years and 7.7% of related inpatient medical costs. Updating estimates of hospitalization costs provides information about health care resource use associated with birth defects and the financial impact of birth defects across the life span and illustrates the need to determine the continued health care needs of persons born with birth defects to ensure optimal health for all.
Subject(s)
Congenital Abnormalities , Hospitalization , Inpatients , Humans , Health Care Costs , United States/epidemiology , Congenital Abnormalities/epidemiologyABSTRACT
PURPOSE: To assess associations between influenza vaccination during etiologically-relevant windows and selected major structural non-cardiac birth defects. STUDY DESIGN: We analyzed data from the National Birth Defects Prevention Study, a multisite, population-based case-control study, for 8233 case children diagnosed with a birth defect and 4937 control children without a birth defect with delivery dates during 2006-2011. For all analyses except for neural tube defects (NTDs), we classified mothers who reported influenza vaccination 1 month before through the third pregnancy month as exposed; the exposure window for NTDs was 1 month before through the first pregnancy month. For defects with five or more exposed case children, we used logistic regression to estimate propensity score-adjusted odds ratios (aORs) and 95% confidence intervals (CIs), adjusting for estimated delivery year and season; plurality; maternal age, race/ethnicity, smoking and alcohol use, low folate intake; and, for NTDs, folate antagonist medications. RESULTS: There were 334 (4.1%) case and 197 (4.0%) control mothers who reported influenza vaccination from 1 month before through the third pregnancy month. Adjusted ORs ranged from 0.53 for omphalocele to 1.74 for duodenal atresia/stenosis. Most aORs (11 of 19) were ≤1 and all adjusted CIs included the null. The unadjusted CIs for two defects, hypospadias and craniosynostosis, excluded the null. These estimates were attenuated upon covariate adjustment (hypospadias aOR: 1.25 (95% CI 0.89, 1.76); craniosynostosis aOR: 1.23 (95% CI: 0.88, 1.74)). CONCLUSIONS: Results for several non-cardiac major birth defects add to the existing evidence supporting the safety of inactivated influenza vaccination during pregnancy. Under-reporting of vaccination may have biased estimates downward.
Subject(s)
Congenital Abnormalities , Craniosynostoses , Hypospadias , Influenza, Human , Case-Control Studies , Child , Congenital Abnormalities/epidemiology , Congenital Abnormalities/etiology , Duodenal Obstruction , Female , Folic Acid , Humans , Influenza, Human/epidemiology , Influenza, Human/prevention & control , Intestinal Atresia , Male , Pregnancy , Risk Factors , Vaccination/adverse effectsABSTRACT
In May 2018, a study of birth defects in infants born to women with diagnosed human immunodeficiency virus (HIV) infection in Botswana reported an eightfold increased risk for neural tube defects (NTDs) among births with periconceptional exposure to antiretroviral therapy (ART) that included the integrase inhibitor dolutegravir (DTG) compared with other ART regimens (1). The World Health Organization* (WHO) and the U.S. Department of Health and Human Services (HHS) promptly issued interim guidance limiting the initiation of DTG during early pregnancy and in women of childbearing age with HIV who desire pregnancy or are sexually active and not using effective contraception. On the basis of additional data, WHO now recommends DTG as a preferred treatment option for all populations, including women of childbearing age and pregnant women. Similarly, the U.S. recommendations currently state that DTG is a preferred antiretroviral drug throughout pregnancy (with provider-patient counseling) and as an alternative antiretroviral drug in women who are trying to conceive.§ Since 1981 and 1994, CDC has supported separate surveillance programs for HIV/acquired immunodeficiency syndrome (AIDS) (2) and birth defects (3) in state health departments. These two surveillance programs can inform public health programs and policy, linkage to care, and research activities. Because birth defects surveillance programs do not collect HIV status, and HIV surveillance programs do not routinely collect data on occurrence of birth defects, the related data have not been used by CDC to characterize birth defects in births to women with HIV. Data from these two programs were linked to estimate overall prevalence of NTDs and prevalence of NTDs in HIV-exposed pregnancies during 2013-2017 for 15 participating jurisdictions. Prevalence of NTDs in pregnancies among women with diagnosed HIV infection was 7.0 per 10,000 live births, similar to that among the general population in these 15 jurisdictions, and the U.S. estimate based on data from 24 states. Successful linking of data from birth defects and HIV/AIDS surveillance programs for pregnancies among women with diagnosed HIV infection suggests that similar data linkages might be used to characterize possible associations between maternal diseases or maternal use of medications, such as integrase strand transfer inhibitors used to manage HIV, and pregnancy outcomes. Although no difference in NTD prevalence in HIV-exposed pregnancies was found, data on the use of integrase strand transfer inhibitors in pregnancy are needed to understand the safety and risks of these drugs during pregnancy.
Subject(s)
HIV Infections/diagnosis , Neural Tube Defects/epidemiology , Pregnancy Complications, Infectious/diagnosis , Adolescent , Adult , Anti-Retroviral Agents/adverse effects , Anti-Retroviral Agents/therapeutic use , Female , HIV Infections/drug therapy , Humans , Infant, Newborn , Pregnancy , Pregnancy Complications, Infectious/drug therapy , United States/epidemiology , Young AdultABSTRACT
INTRODUCTION: Women and healthcare providers lack adequate information on medication safety during pregnancy. While resources describing fetal risk are available, information is provided in multiple locations, often with subjective assessments of available data. We developed a list of medications of greatest concern during pregnancy to help healthcare providers counsel reproductive-aged and pregnant women. METHODS: Prescription drug labels submitted to the U.S. Food and Drug Administration with information in the Teratogen Information System (TERIS) and/or Drugs in Pregnancy and Lactation by Briggs & Freeman were included (N = 1,186 medications; 766 from three data sources, 420 from two). We used two supervised learning methods ('support vector machine' and 'sentiment analysis') to create prediction models based on narrative descriptions of fetal risk. Two models were created per data source. Our final list included medications categorized as 'high' risk in at least four of six models (if three data sources) or three of four models (if two data sources). RESULTS: We classified 80 prescription medications as being of greatest concern during pregnancy; over half were antineoplastic agents (n = 24), angiotensin converting enzyme inhibitors (n = 10), angiotensin II receptor antagonists (n = 8), and anticonvulsants (n = 7). DISCUSSION: This evidence-based list could be a useful tool for healthcare providers counseling reproductive-aged and pregnant women about medication use during pregnancy. However, providers and patients may find it helpful to weigh the risks and benefits of any pharmacologic treatment for both pregnant women and the fetus when managing medical conditions before and during pregnancy.
Subject(s)
Pregnancy Complications/etiology , Prescription Drugs/adverse effects , Prescription Drugs/therapeutic use , Supervised Machine Learning/trends , Adult , Databases, Pharmaceutical/statistics & numerical data , Drug Labeling/methods , Female , Humans , Practice Patterns, Physicians'/standards , Practice Patterns, Physicians'/statistics & numerical data , Pregnancy , Pregnancy Complications/prevention & controlABSTRACT
BACKGROUND: Medical advancements have resulted in better survival and life expectancy among those with spina bifida, but a significantly increased risk of perinatal and postnatal mortality for individuals with spina bifida remains. OBJECTIVES: To examine stillbirth and infant and child mortality among those affected by spina bifida using data from multiple countries. METHODS: We conducted an observational study, using data from 24 population- and hospital-based surveillance registries in 18 countries contributing as members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Cases of spina bifida that resulted in livebirths or stillbirths from 20 weeks' gestation or elective termination of pregnancy for fetal anomaly (ETOPFA) were included. Among liveborn spina bifida cases, we calculated mortality at different ages as number of deaths among liveborn cases divided by total number of liveborn cases with spina bifida. As a secondary outcome measure, we estimated the prevalence of spina bifida per 10 000 total births. The 95% confidence interval for the prevalence estimate was estimated using the Poisson approximation of binomial distribution. RESULTS: Between years 2001 and 2012, the overall first-week mortality proportion was 6.9% (95% CI 6.3, 7.7) and was lower in programmes operating in countries with policies that allowed ETOPFA compared with their counterparts (5.9% vs. 8.4%). The majority of first-week mortality occurred on the first day of life. In programmes where information on long-term mortality was available through linkage to administrative databases, survival at 5 years of age was 90%-96% in Europe, and 86%-96% in North America. CONCLUSIONS: Our multi-country study showed a high proportion of stillbirth and infant and child deaths among those with spina bifida. Effective folic acid interventions could prevent many cases of spina bifida, thereby preventing associated childhood morbidity and mortality.
Subject(s)
Child Mortality , Infant Mortality , Live Birth/epidemiology , Spinal Dysraphism/mortality , Stillbirth/epidemiology , Asia/epidemiology , Child , Child, Preschool , Europe/epidemiology , Female , Humans , Infant , Infant, Newborn , Male , North America/epidemiology , Prevalence , Registries , South America/epidemiology , Spinal Dysraphism/epidemiologyABSTRACT
BACKGROUND: This report describes the results of recruitment efforts and the subsequent participation of pregnant women in study activities in a 2010-2012 observational study focused on influenza illness and vaccination in California and Oregon, USA. METHODS: Socio-demographic and health characteristics extracted from electronic medical records were compared among pregnant women who enrolled in the study, refused to participate, or were never reached for study invitation. These characteristics plus additional self-reported information were compared between women who enrolled in two study tracks: a prospective cohort vs. women enrolled following an acute respiratory illness (ARI) medical encounter. The characteristics of women who participated in weekly ARI surveillance (cohort enrollees, year one) and a 6-month follow-up interview (all enrollees) were also examined. RESULTS: In year one, we reached 51% (6938/13,655) of the potential participants we tried to contact by telephone, and 20% (1374/6938) of the women we invited agreed to join the prospective cohort. Women with chronic medical conditions, pregnancy complications, and medical encounters for ARI (prior to pregnancy or during the study period) were more likely to be reached for recruitment and more likely to enroll in the cohort. Twenty percent of cohort enrollees never started weekly surveillance reports; among those who did, reports were completed for 55% of the surveillance weeks. Receipt of the influenza vaccine was higher among women who joined the cohort (76%) than those who refused (56%) or were never reached (54%). In contrast, vaccine uptake among medical enrollees in year one (54%; 53/98) and two (52%; 79/151) was similar to other pregnant women in those years. Study site, white race, non-Hispanic ethnicity, and not having a child aged < 13 years at home were most consistently associated with joining as a cohort or medical enrollee and completing study activities after joining. CONCLUSIONS: We observed systematic differences in socio-demographic and health characteristics across different levels of participant engagement and between cohort and medical enrollees. More methodological research and innovation in conducting prospective observational studies in this population are needed, especially when extended participant engagement and ongoing surveillance are required.
Subject(s)
Influenza, Human/prevention & control , Patient Selection , Population Surveillance , Pregnancy Complications, Infectious/prevention & control , Pregnant Women , Vaccination/statistics & numerical data , Adult , California , Family Characteristics , Female , Hispanic or Latino/statistics & numerical data , Humans , Influenza Vaccines , Oregon , Pregnancy , Prospective Studies , White People/statistics & numerical data , Young AdultABSTRACT
In the United States, major structural or genetic birth defects affect approximately 3% of live births (1) and are responsible for 20% of infant deaths (2). Birth defects can affect persons across their lifespan and are the cause of significant lifelong disabilities. CDC used the Healthcare Cost and Utilization Project (HCUP) 2013 National Inpatient Sample (NIS), a 20% stratified sample of discharges from nonfederal community hospitals, to estimate the annual cost of birth defect-associated hospitalizations in the United States, both for persons of all ages and by age group. Birth defect-associated hospitalizations had disproportionately high costs, accounting for 3.0% of all hospitalizations and 5.2% of total hospital costs. The estimated annual cost of birth defect-associated hospitalizations in the United States in 2013 was $22.9 billion. Estimates of the cost of birth defect-associated hospitalizations offer important information about the impact of birth defects among persons of all ages on the overall health care system and can be used to prioritize prevention, early detection, and care.
Subject(s)
Congenital Abnormalities/economics , Cost of Illness , Hospital Costs/statistics & numerical data , Hospitalization/economics , Adolescent , Adult , Aged , Child , Child, Preschool , Congenital Abnormalities/therapy , Hospitalization/statistics & numerical data , Humans , Infant , Middle Aged , United States , Young AdultABSTRACT
Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.
Subject(s)
Congenital Abnormalities/epidemiology , Population Surveillance , Zika Virus Infection/congenital , Adult , Congenital Abnormalities/virology , Female , Georgia/epidemiology , Humans , Infant , Infant, Newborn , Massachusetts/epidemiology , North Carolina/epidemiology , Pregnancy , Pregnancy Complications, Infectious , Prevalence , Retrospective StudiesABSTRACT
Pregnant women living in or traveling to areas with local mosquito-borne Zika virus transmission are at risk for Zika virus infection, which can lead to severe fetal and infant brain abnormalities and microcephaly (1). In February 2016, CDC recommended 1) routine testing for Zika virus infection of asymptomatic pregnant women living in areas with ongoing local Zika virus transmission at the first prenatal care visit, 2) retesting during the second trimester for women who initially test negative, and 3) testing of pregnant women with signs or symptoms consistent with Zika virus disease (e.g., fever, rash, arthralgia, or conjunctivitis) at any time during pregnancy (2). To collect information about pregnant women with laboratory evidence of recent possible Zika virus infection* and outcomes in their fetuses and infants, CDC established pregnancy and infant registries (3). During January 1, 2016-April 25, 2017, U.S. territories with local transmission of Zika virus reported 2,549 completed pregnancies§ (live births and pregnancy losses at any gestational age) with laboratory evidence of recent possible Zika virus infection; 5% of fetuses or infants resulting from these pregnancies had birth defects potentially associated with Zika virus infection¶ (4,5). Among completed pregnancies with positive nucleic acid tests confirming Zika infection identified in the first, second, and third trimesters, the percentage of fetuses or infants with possible Zika-associated birth defects was 8%, 5%, and 4%, respectively. Among liveborn infants, 59% had Zika laboratory testing results reported to the pregnancy and infant registries. Identification and follow-up of infants born to women with laboratory evidence of recent possible Zika virus infection during pregnancy permits timely and appropriate clinical intervention services (6).
Subject(s)
Pregnancy Complications, Infectious/epidemiology , Pregnancy Outcome , Zika Virus Infection/epidemiology , Female , Humans , Infant, Newborn , Pregnancy , United States/epidemiologyABSTRACT
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. This primer was written to assist the cleft care community with understanding and use of ICD-10-CM for diagnostic coding related to cleft lip and/or palate (CL/P).
Subject(s)
Cleft Lip/classification , Cleft Lip/therapy , Cleft Palate/classification , Cleft Palate/therapy , Clinical Coding , International Classification of Diseases , Humans , United StatesABSTRACT
CDC has developed interim guidelines for health care providers in the United States who are caring for infants born to mothers who traveled to or resided in an area with Zika virus transmission during pregnancy. These guidelines include recommendations for the testing and management of these infants. Guidance is subject to change as more information becomes available; the latest information, including answers to commonly asked questions, can be found online (http://www.cdc.gov/zika). Pediatric health care providers should work closely with obstetric providers to identify infants whose mothers were potentially infected with Zika virus during pregnancy (based on travel to or residence in an area with Zika virus transmission [http://wwwnc.cdc.gov/travel/notices]), and review fetal ultrasounds and maternal testing for Zika virus infection (see Interim Guidelines for Pregnant Women During a Zika Virus Outbreak*) (1). Zika virus testing is recommended for 1) infants with microcephaly or intracranial calcifications born to women who traveled to or resided in an area with Zika virus transmission while pregnant; or 2) infants born to mothers with positive or inconclusive test results for Zika virus infection. For infants with laboratory evidence of a possible congenital Zika virus infection, additional clinical evaluation and follow-up is recommended. Health care providers should contact their state or territorial health department to facilitate testing. As an arboviral disease, Zika virus disease is a nationally notifiable condition.
Subject(s)
Practice Guidelines as Topic , Zika Virus Infection/congenital , Zika Virus Infection/diagnosis , Centers for Disease Control and Prevention, U.S. , Female , Humans , Infant , Pregnancy , Pregnancy Complications, Infectious , United StatesABSTRACT
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 Paediatric 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. CONCLUSION: The expanded set is "collapsible" into the official ICD-10-CM codes; this improves compatibility of the expanded codes that would be contained in research and epidemiologic databases with the standard codes from hospital electronic medical record systems and administrative billing data. Birth Defects Research (Part A) 106:905-914, 2016. © 2016 Wiley Periodicals, Inc.
Subject(s)
Cleft Lip/diagnosis , Cleft Lip/epidemiology , Cleft Palate/diagnosis , Cleft Palate/epidemiology , Epidemiological Monitoring , Female , Humans , MaleABSTRACT
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. CONCLUSION: Differences in methods, population distribution of maternal/infant characteristics, and case definitions for microcephaly can contribute to the wide range of observed prevalence estimates across individual birth defects surveillance programs. Addressing these factors in the setting of Zika virus infection can improve the quality of prevalence estimates. Birth Defects Research (Part A) 106:972-982, 2016. © 2016 Wiley Periodicals, Inc.
Subject(s)
Epidemiological Monitoring , Microcephaly/epidemiology , Zika Virus Infection/epidemiology , Zika Virus , Female , Humans , Infant, Newborn , Male , Prevalence , Retrospective Studies , United States/epidemiologyABSTRACT
The prevalence of trisomy 21 has been reported to differ by race-ethnicity, however, the results are inconsistent and the cause of the differences is unknown. Using data from 1996 to 2005 from the Metropolitan Atlanta Congenital Defects Program (MACDP), we analyzed the use of prenatal cytogenetic testing and the subsequent use of elective termination among pregnancies affected with any MACDP-eligible birth defect and trisomy 21, by maternal race-ethnicity. We then examined whether these factors could explain the observed differences in the prevalence of trisomy 21 among race-ethnicity groups. Among all pregnancies with birth defects, prenatal cytogenetic testing as well as elective terminations after an abnormal prenatal cytogenetic test result were observed less frequently among Hispanic women than among non-Hispanic white women (odds ratio [OR] 0.66, 95% confidence interval [CI] 0.56-0.78, respectively). In pregnancies affected by trisomy 21, both the Hispanic and the non-Hispanic black populations had more live births (89.5% and 77.8%, respectively) and fewer elective terminations (5.7% and 15.2%, respectively) compared to the non-Hispanic white population (63.0% live births, 32.3% elective terminations). After adjusting for elective terminations, non-Hispanic white mothers had a higher live birth prevalence of trisomy 21 compared to non-Hispanic black (OR 0.64, 95% CI 0.54-0.76) or Hispanic mothers (OR 0.69, 95% CI 0.55-0.86). Overall, our data suggest that factors associated with decisions made about the use of prenatal testing, and about pregnancy management after testing, might play a large role in the race-ethnicity differences observed in the live birth prevalence of trisomy 21.
Subject(s)
Cytogenetic Analysis , Down Syndrome/diagnosis , Down Syndrome/epidemiology , Prenatal Diagnosis , Adult , Chromosome Aberrations , Ethnicity , Female , Genetic Testing , Georgia/epidemiology , Georgia/ethnology , Humans , Middle Aged , Population Surveillance , Pregnancy , Pregnancy Outcome , Prevalence , Risk Factors , Young AdultABSTRACT
OBJECTIVE: We sought to assess maternal prenatal use of analgesics and risk of cardiovascular malformations (CVM) in the offspring. STUDY DESIGN: Data from the Baltimore-Washington Infant Study, a population-based case-control investigation of CVM, were used to examine selected isolated CVM diagnoses and maternal analgesic use during the periconceptional period (3 months before and after conception). We compared case and control infants on frequency of maternal use of analgesics and estimated adjusted odds ratios (adjORs) and 95% confidence intervals (CI) with logistic regression models for specific CVM phenotypes. RESULTS: Frequency of periconceptional use of any analgesic was 52% among control mothers and 53% among case mothers. Analyses by CVM diagnoses identified an association of tetralogy of Fallot with maternal acetaminophen use (adjOR, 1.6; 95% CI, 1.1-2.3) and dextrotransposition of the great arteries with intact ventricular septum with maternal nonsteroidal antiinflammatory drug use (adjOR, 3.2; 95% CI, 1.2-8.7). CONCLUSION: Analgesic use during the periconceptional period was not associated with CVM in the aggregate or with most phenotypes of CVM examined. Associations with 2 phenotypes of CVM may have occurred by chance. These findings warrant corroboration and further study, including further evaluation of the observed associations, the dose of analgesic taken, more specific timing of analgesic use, and indications for use.
Subject(s)
Analgesics/adverse effects , Cardiovascular Abnormalities/chemically induced , Maternal Exposure/adverse effects , Adult , Case-Control Studies , Female , Humans , Infant, Newborn , Interviews as Topic , Logistic Models , Odds Ratio , Pregnancy , Risk Factors , Surveys and QuestionnairesABSTRACT
BACKGROUND: The Surveillance for Emerging Threats to Pregnant People and Infants Network (SET-NET) collects data abstracted from medical records and birth defects registries on pregnant people and their infants to understand outcomes associated with prenatal exposures. We developed an automated process to categorize possible birth defects for prenatal COVID-19, hepatitis C, and syphilis surveillance. By employing keyword searches, fuzzy matching, natural language processing (NLP), and machine learning (ML), we aimed to decrease the number of cases needing manual clinician review. METHODS: SET-NET captures International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) codes and free text describing birth defects. For unstructured data, we used keyword searches, and then conducted fuzzy matching with a cut-off match score of ≥90%. Finally, we employed NLP and ML by testing three predictive models to categorize birth defect data. RESULTS: As of June 2023, 8326 observations containing data on possible birth defects were submitted to SET-NET. The majority (n = 6758 [81%]) were matched to an ICD-10-CM code and 1568 (19%) were unable to be matched. Through keyword searches and fuzzy matching, we categorized 1387/1568 possible birth defects. Of the remaining 181 unmatched observations, we correctly categorized 144 (80%) using a predictive model. CONCLUSIONS: Using automated approaches allowed for categorization of 99.6% of reported possible birth defects, which helps detect possible patterns requiring further investigation. Without employing these analytic approaches, manual review would have been needed for 1568 observations. These methods can be employed to quickly and accurately sift through data to inform public health responses.
Subject(s)
Medical Records , Natural Language Processing , Infant , Female , Pregnancy , Humans , Registries , Machine Learning , HospitalizationABSTRACT
PURPOSE: To determine which medications are most commonly used by women in the first trimester of pregnancy and identify the critical gaps in information about fetal risk for those medications. METHODS: Self-reported first-trimester medication use was assessed among women delivering liveborn infants without birth defects and serving as control mothers in two large case-control studies of major birth defects. The Teratology Information System (TERIS) expert Advisory Board ratings of quality and quantity of data available to assess fetal risk were reviewed to identify information gaps. RESULTS: Responses from 5381 mothers identified 54 different medication components used in the first trimester by at least 0.5% of pregnant women, including 31 prescription and 23 over-the-counter medications. The most commonly used prescription medication components reported were progestins from oral contraceptives, amoxicillin, progesterone, albuterol, promethazine, and estrogenic compounds. The most commonly used over-the-counter medication components reported were acetaminophen, ibuprofen, docusate, pseudoephedrine, aspirin, and naproxen. Among the 54 most commonly used medications, only two had "Good to Excellent" data available to assess teratogenic risk in humans, based on the TERIS review. CONCLUSIONS: For most medications commonly used in pregnancy, there are insufficient data available to characterize the fetal risk fully, limiting the opportunity for informed clinical decisions about the best management of acute and chronic disorders during pregnancy. Future research efforts should be directed at these critical knowledge gaps.
Subject(s)
Drug Utilization Review/statistics & numerical data , Fetal Development/drug effects , Health Knowledge, Attitudes, Practice , Maternal Exposure/adverse effects , Nonprescription Drugs/adverse effects , Prescription Drugs/adverse effects , Adverse Drug Reaction Reporting Systems , Drug Prescriptions/statistics & numerical data , Drug Utilization Review/trends , Female , Humans , Maternal Exposure/statistics & numerical data , Nonprescription Drugs/administration & dosage , Nonprescription Drugs/therapeutic use , Pharmacoepidemiology , Pregnancy , Pregnancy Trimester, First , Prescription Drugs/administration & dosage , Prescription Drugs/therapeutic use , Risk , Surveys and Questionnaires , United StatesABSTRACT
BACKGROUND: Although results from studies of first-trimester influenza vaccination and congenital heart defects (CHDs) have been reassuring, data are limited for specific CHDs. METHODS: We assessed associations between reported maternal influenza vaccination, 1 month before pregnancy (B1) through end of third pregnancy month (P3), and specific CHDs using data from a multisite, population-based case-control study. Analysis included 2,982 case children diagnosed with a simple CHD (no other cardiac involvement with or without extracardiac defects) and 4,937 control children without a birth defect with estimated delivery dates during 2006-2011. For defects with ≥5 exposed case children, we used logistic regression to estimate propensity score-adjusted odds ratios (aORs) and 95% confidence intervals (CIs), adjusting for estimated delivery year and season; plurality; and maternal age at delivery, race/ethnicity, low folate intake, and smoking and alcohol use during B1P3. RESULTS: Overall, 124 (4.2%) simple CHD case mothers and 197 (4.0%) control mothers reported influenza vaccination from 1 month before through the third pregnancy month. The aOR for any simple CHD was 0.97 (95% CI: 0.76-1.23). Adjusted ORs for specific simple CHDs ranged from 0.62 for hypoplastic left heart syndrome to 2.34 for total anomalous pulmonary venous return (TAPVR). All adjusted CIs included the null except for TAPVR. CONCLUSIONS: Although we cannot fully exclude that exposure misclassification may have masked risks for some CHDs, findings add to existing evidence supporting the safety of inactivated influenza vaccination during pregnancy. The TAPVR result may be due to chance, but it may help inform future studies.