Abstract:
BACKGROUND:Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening coverage and outcomes. This purpose of this study was to determine: (1) the proportion of cases detected by screening, (2) health services use by children with CCHDs during the first year of life, and (3) mortality outcomes. METHODS:Records of children born in 2012 to 2013 with any of seven CCHD lesions were identified in New England birth defects databases. Information was abstracted from each child's medical record. Descriptive statistics were used to report results. RESULTS:From nearly 160,000 live births, 208 CCHD diagnoses were noted in the records of 157 children. Screening was noted in 67% of records of confirmed cases of CCHDs. Data completeness varied by state; for example, information was available regarding prenatal diagnosis in 91% of records and age at first surgery in 85% among states with active surveillance compared with 35% and 75%, respectively, with passive surveillance. Documentation of screening results in medical records was inconsistent. The one year survival was 85% (77/91). CONCLUSION:Birth defects surveillance systems can provide information on outcomes for infants with CCHDs. However, information varies by surveillance method and by hospital practices. Engaging hospitals in standardizing recording procedures and enhancing training and quality control could increase the value of birth defects registries records in assessing outcomes for children identified through CCHD screening. Birth Defects Research 109:1414-1422, 2017.© 2017 Wiley Periodicals, Inc.
journal_name
Birth Defects Resjournal_title
Birth defects researchauthors
Case AP,Miller SD,McClain MRdoi
10.1002/bdr2.1108subject
Has Abstractpub_date
2017-11-01 00:00:00pages
1414-1422issue
18issn
2472-1727journal_volume
109pub_type
杂志文章abstract:BACKGROUND:To objectively describe craniofacial, visual, and neurological features associated with amniotic band syndrome (ABS) and discuss likely associated multifactorial etiology. METHODS:A retrospective review of patients identified with ABS and concomitant limb involvement and craniofacial features was conducted....
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1576
更新日期:2019-11-15 00:00:00
abstract:BACKGROUND:Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS:...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdra.23586
更新日期:2017-01-20 00:00:00
abstract:BACKGROUND:This is the first study to utilize the index of concentration at the extremes (ICE) to examine risk factors for spina bifida in Texas. The ICE is a useful measure for providing the degree to which residents in a certain area are concentrated into groups at the extremes of disadvantage and privilege. We intro...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1374
更新日期:2019-08-15 00:00:00
abstract::Cytomegalovirus (CMV) is a DNA herpesvirus that is common worldwide. The two known main sources of primary CMV infection during pregnancy are through sexual activity and contact with young children. Primary infection occurs in approximately 1 to 4% of pregnancies, and is mostly asymptomatic in immunocompetent adults. ...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdra.23601
更新日期:2017-03-15 00:00:00
abstract::Small animal models, particularly mouse models, of human diseases are becoming an indispensable tool for biomedical research. Studies in animal models have provided important insights into the etiology of diseases and accelerated the development of therapeutic strategies. Detailed phenotypic characterization is essent...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1051
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Recent advances in genomics methodologies, in particular the availability of next-generation sequencing approaches have made it possible to identify risk loci throughout the genome, in particular the exome. In the current study, we present findings from an exome study conducted in five affected individuals o...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdra.23596
更新日期:2017-01-20 00:00:00
abstract::The World Health Organization currently recommends quinine+clindamycin for use against malaria in the first trimester. This may soon change to recommending artemisinin-based combination therapies (standard duration of dosing = 3 days). The non-artemisinin partner drugs include amodiaquine, lumefantrine, mefloquine, pi...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1035
更新日期:2017-08-15 00:00:00
abstract:OBJECTIVES:To explore the technical aspects and clinical utility of early fetal echocardiography and screening of the fetal heart in early pregnancy. Also, to document differences in cardiac structure and function which can be demonstrated in the late first/early second trimesters. METHODS:In addition to summarizing o...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1414
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Cardiac fibrosis is a cardinal feature of multiple types of cardiovascular disease, which lead to heart failure. Multiple studies connect adverse maternal environment (AME) with cardiac fibrosis. AME does not always result in fibrosis, though. An additional "insult", such as an adult Western diet (WD), is fr...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1428
更新日期:2018-12-01 00:00:00
abstract::OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific asso...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1512
更新日期:2019-07-01 00:00:00
abstract::Over 50% of patients with 22q11.2 deletion syndrome (DS) have a conotruncal or related cardiac defect (CTRD). We hypothesized that similar genetic variants, developmental pathways and biological functions, contribute to disease risk for CTRD in patients without a 22q11.2 deletion (ND-CTRD) and with a 22q11.2 deletion ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1534
更新日期:2019-08-01 00:00:00
abstract::The AV7909 vaccine, consists of the Anthrax Vaccine Adsorbed (AVA) bulk drug substance and the immunostimulatory Toll-like receptor 9 agonist oligodeoxynucleotide adjuvant CPG 7909. The purpose of this research was to evaluate the potential maternal, reproductive, and developmental toxicity of AV7909 in rats to suppor...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1815
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:The diagnosis of fetal alcohol syndrome (FAS) rests on identification of characteristic facial, growth, and central nervous system (CNS) features. Public health surveillance of FAS depends on documentation of these characteristics. We evaluated if reporting of FAS characteristics is associated with the type ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1203
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND:The aim of this study is to evaluate the association of TGFA TaqI polymorphism with nonsyndromic cleft lip and/or palate (NSCLP) in an Iranian population. METHODS:In this case-control study, 113 children with NSCLP and 209 controls were included. Genotyping of the TaqI polymorphism was performed by polymera...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1125
更新日期:2017-10-16 00:00:00
abstract:BACKGROUND:The tetanus toxoid, reduced diphtheria toxoid, and acellular pertussis (Tdap) vaccine is recommended during pregnancy to protect newborns against pertussis infection in the months prior to their primary pertussis vaccination. Although research on the safety of the vaccine has been reassuring, most previous s...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1642
更新日期:2020-03-01 00:00:00
abstract::Maternal-neonate separation for human newborns has been the standard of care since the last century; low birth weight and preterm infants are still routinely separated from their mothers. With advanced technology, survival is good, but long-term developmental outcomes are very poor for these especially vulnerable newb...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1530
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:My career goal in 1971 was to learn about the causes of malformations. Attending the annual meetings of the Teratology Society and reading the articles in Teratology exposed me to the scientists and clinicians involved in this research and the methods being used. METHODS:Over a period of 49 years (1972-2020...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1667
更新日期:2020-07-15 00:00:00
abstract:BACKGROUND:Maternal smoking or passive smoking during gestation increases the risk of congenital birth defects, including neural tube defects (NTDs). Cigarette smoke is a recognized teratogen that causes NTDs, although the mechanisms are not well understood. METHODS:An established model of passive smoking in pregnant ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1804
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:A cardinal feature of prenatal ethanol exposure is CNS damage, resulting in a continuum of neurological and behavioral impairments that are described by the term fetal alcohol spectrum disorders (FASD). FASDs are variable and depend on several factors, including the amount, timing, and duration of prenatal e...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1477
更新日期:2019-07-15 00:00:00
abstract:BACKGROUND:The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presentin...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1042
更新日期:2017-07-17 00:00:00
abstract:BACKGROUND:Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1155
更新日期:2018-01-01 00:00:00
abstract::The aerodigestive and communicative behaviors of anencephalic and hydranencephalic patients are assessed from literature sources and are compared with documented neural structures present in the brainstem, subcortical, and cortical regions of the brain. Much of the data analyzed corroborate previous neurological studi...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1424
更新日期:2019-01-15 00:00:00
abstract:BACKGROUND:Neural tube defects (NTDs) are severe congenital malformations. Folate supplementation can reduce the risk, but cannot prevent all NTDs, suggesting other reasons for folate-resistant NTDs. The present study assesses placental fatty acid composition, eicosanoids, and cytokines as risk factors for NTDs in a Ch...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1003
更新日期:2017-05-01 00:00:00
abstract:BACKGROUND:The teratogenic effects of prenatal alcohol exposure (PAE) have been extensively documented over the course of 45 years of research and psychiatric problems are pervasive in this population. In adults with PAE, suicidal risk is high but less is known about the suicidal risk in adolescents with fetal alcohol ...
journal_title:Birth defects research
pub_type: 临床试验,杂志文章
doi:10.1002/bdr2.1465
更新日期:2019-07-15 00:00:00
abstract:BACKGROUND:With the increasing birth prevalence of hypospadias, there is growing concern for pollutant exposure interfering with normal penile development. We assess the association between hypospadias and hormonally active hazardous air pollutants (HAHAPs) through a nationwide database of hazardous air pollutants and ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1461
更新日期:2019-04-15 00:00:00
abstract:BACKGROUND:Developmental exposure to brominated flame retardants (BFRs), including polybrominated diphenyl ethers (PBDEs) and hexabromocyclododecane (HBCDD), has been associated with impaired neurodevelopment and some symptoms of metabolic syndrome. However, there are inconsistencies in studies reporting neurodevelopme...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1021
更新日期:2017-04-17 00:00:00
abstract:BACKGROUND:There is considerable variability in the prevalence of birth defects among racial/ethnic groups. This study estimated birth defect prevalence among the less studied non-Hispanic (NH) Asian/Pacific Islander (PI) and American Indian/Alaska Native (AI/AN) populations in Texas relative to NH Whites. METHODS:Dat...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1543
更新日期:2019-11-01 00:00:00
abstract::Cannabis use during adolescence has been linked to deleterious effects on brain integrity. This article summarizes findings from two prospective investigations (3 and 6 years, on average) on adolescent cannabis use from our laboratory that utilize structural neuroimaging and neurocognitive assessment approaches. Acros...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1572
更新日期:2019-10-15 00:00:00
abstract:BACKGROUND:As a result of human socioeconomic activity, industrial wastes have increased distressingly. Plastic pollution is globally distributed across the world due to its properties of buoyancy and durability. A big health hazard is the sorption of toxicants to plastic while traveling through the environment. Two br...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1779
更新日期:2020-10-01 00:00:00
abstract::The blood-brain barrier (BBB) serves as a gateway for passage of drugs, chemicals, nutrients, metabolites, and hormones between vascular and neural compartments in the brain. Here, we review BBB development with regard to the microphysiology of the neurovascular unit (NVU) and the impact of BBB disruption on brain dev...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1180
更新日期:2017-12-01 00:00:00