Abstract:
:Mouse models are invaluable for investigating the developmental etiology and molecular pathogenesis of structural birth defects. While this has been deployed for studying a wide spectrum of birth defects, mice are particularly valuable for modeling congenital heart disease, given they have the same four-chamber cardiac anatomy as in humans. We have developed the use of noninvasive fetal ultrasound together with micro-computed tomography (micro-CT) imaging for high throughput phenotyping of mice for congenital heart defects (CHD) and other developmental anomalies. We showed the efficacy of fetal ultrasound and micro-CT imaging for diagnosis of a wide spectrum of CHD. With fetal ultrasound, longitudinal scans can be conducted to track the developmental profile of disease pathogenesis, providing both structural information with two-dimensional (2D) imaging, as well as functional data from hemodynamic assessments with color flow and spectral Doppler imaging. In contrast, with micro-CT imaging, virtual necropsies can be conducted rapidly postmortem for diagnosis of not only CHD, but also other structural birth defects. To validate the CHD diagnosis, we further showed the use of a novel histological technique with episcopic confocal microscopy to obtain rapid 3D reconstructions for accurate diagnosis of even the most complex anatomical defect. The latter histological imaging technique when combined with the use of ultrasound and micro-CT imaging provides a powerful combination of imaging modalities that will be invaluable in meeting the accelerating demands for high throughput mouse phenotyping of genetically engineered mice in the coming age of functional genomics. Birth Defects Research 109:778-790, 2017. © 2017 Wiley Periodicals, Inc.
journal_name
Birth Defects Resjournal_title
Birth defects researchauthors
Liu X,Kim AJ,Reynolds W,Wu Y,Lo CWdoi
10.1002/bdr2.1048subject
Has Abstractpub_date
2017-06-01 00:00:00pages
778-790issue
10issn
2472-1727journal_volume
109pub_type
杂志文章,评审abstract:BACKGROUND:Congenital malformations are a leading cause of infant mortality in the United States, and risk for some congenital malformations varies by socioeconomic status (SES). Medicaid provides health insurance for people with low income, and covers approximately half of all live births in the United States. Income ...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1107
更新日期:2017-11-01 00:00:00
abstract::Evidences indicate that the decline of female fertility is becoming a common problem over the past few decades. Environmental exposure of Bisphenol A (BPA) has been considered as an endocrine-disrupting chemical deleteriously affecting human reproductions. To better understand the effect of BPA exposure on human ovari...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1817
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:During the Zika virus (ZIKV) outbreak, an urgent need existed for strong partnerships to disseminate Zika-related information to pregnant women and women of child-bearing age. METHODS:The Centers for Disease Control and Prevention (CDC) partnered with MotherToBaby, a national organization experienced in pro...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1787
更新日期:2020-11-01 00:00:00
abstract::Electronic nicotine delivery systems (ENDS), which includes e-cigarettes (ECIGs), are a rapidly-expanding class of products that heat a liquid (which may or may not contain nicotine) to produce an aerosol. The variation of ECIG components is extensive as are their effects on users. Epidemiological data show that while...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1561
更新日期:2019-10-15 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:Few published studies are reported for the neurobehavioral toxicity of combined exposure to fungicides in mammals. This study was aimed to re-evaluate the reproductive and neurobehavioral effects of maternal exposure to combined imazalil (IMZ) and thiabendazole (TBZ) with fixed-dose of TBZ in mice. METHODS:...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1793
更新日期:2020-12-01 00:00:00
abstract::In human studies, it is well established that exposures during embryonic and fetal development periods can influence immune health. Coupled with genetic predisposition, these exposures can alter lifetime chronic and infectious disease trajectory, and, ultimately, life expectancy. Fortunately, as research advances, mec...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1469
更新日期:2019-03-01 00:00:00
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: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: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::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::As a result of human socio-economic activity, industrial wastes have increased alarmingly. Plastic pollution is globally distributed across the world due to its properties of buoyancy and durability. Two broad classes of plastic-related chemicals are of critical concern for human health-bisphenol-A or BPA, and additiv...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1776
更新日期:2020-10-01 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::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:OBJECTIVES:Strategies for conducting juvenile dose ranging studies before definitive toxicity juvenile animal studies (JAS) have evolved, but the aim of demonstrating study design robustness and efficient animal use remains the same. The objective of dose selection is to identify a strategy to achieve consistent system...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1856
更新日期:2020-12-14 00:00:00
abstract:BACKGROUND:Hypospadias is a common birth defect that might be caused by inadequate fusion of the urethral folds in the process of male external genital development. We intended to discover the crucial long noncoding RNAs (lncRNAs) regulating autophagy from the gene expression profile of the genital tubercle (GT) of dib...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1863
更新日期:2021-01-15 00:00:00
abstract:BACKGROUND:Zika virus has recently emerged as a novel cause of microcephaly. CDC has asked states to rapidly ascertain and report cases of Zika-linked birth defects, including microcephaly. Massachusetts added head circumference to its birth certificate (BC) in 2011. The accuracy of head circumference measurements from...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1174
更新日期:2018-03-15 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:Obstetricians usually prescribe supplements during pregnancy without actual indication. The use of selenium during pregnancy has increased, due to its function in several antioxidant mechanisms. CASE:A pregnant woman received 200,000 micrograms (μg) per day of a selenium galenic formulation, since gestation...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1148
更新日期:2018-03-01 00:00:00
abstract::Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topi...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1050
更新日期:2017-06-01 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::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::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: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: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 cov...
journal_title:Birth defects research
pub_type: 杂志文章
doi:10.1002/bdr2.1108
更新日期:2017-11-01 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::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
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:It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA pattern...
journal_title:Birth defects research
pub_type: 杂志文章,评审
doi:10.1002/bdr2.1115
更新日期:2018-01-15 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