Phenotyping cardiac and structural birth defects in fetal and newborn mice.

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 Res

journal_title

Birth defects research

authors

Liu X,Kim AJ,Reynolds W,Wu Y,Lo CW

doi

10.1002/bdr2.1048

subject

Has Abstract

pub_date

2017-06-01 00:00:00

pages

778-790

issue

10

issn

2472-1727

journal_volume

109

pub_type

杂志文章,评审
  • Maternal Medicaid Recipient Status and Congenital Malformations among New York State Live Births in 2010.

    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

    authors: Richardson SD,Josberger RE

    更新日期:2017-11-01 00:00:00

  • Bisphenol A decreases progesterone synthesis in human ovarian granulosa cells.

    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

    authors: Qi J,Liu L,Yang J,Gao X,Zhang W

    更新日期:2020-12-01 00:00:00

  • A model partnership for communication and dissemination of scientific recommendations for pregnant women during the emergency response to the Zika virus outbreak: MotherToBaby and the Centers for Disease Control and Prevention.

    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

    authors: Harris-Sagaribay L,Chambers CD,Perrotta K,Polen KD,Honein MA,Wasternack E

    更新日期:2020-11-01 00:00:00

  • Electronic nicotine delivery systems and pregnancy: Recent research on perceptions, cessation, and toxicant delivery.

    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

    authors: Breland A,McCubbin A,Ashford K

    更新日期:2019-10-15 00:00:00

  • Suicide risk in adolescents with fetal alcohol spectrum disorders.

    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

    authors: O'Connor MJ,Portnoff LC,Lebsack-Coleman M,Dipple KM

    更新日期:2019-07-15 00:00:00

  • Combined effects of maternal exposure to fungicides on behavioral development in F1 -generation mice: 2. Fixed-dose study of thiabendazole.

    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

    authors: Tanaka T,Suzuki T,Inomata A,Moriyasu T

    更新日期:2020-12-01 00:00:00

  • Environmental exposures during pregnancy: Mechanistic effects on immunity.

    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

    authors: Rychlik KA,Sillé FCM

    更新日期:2019-03-01 00:00:00

  • Case series: Amniotic band sequence with craniofacial abnormalities.

    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

    authors: Lies S,Beckwith T,Mills J,Butler L,Ezaki M,Oishi S

    更新日期:2019-11-15 00:00:00

  • Memories of the Teratology Society: 1972-2020.

    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

    authors: Holmes LB

    更新日期:2020-07-15 00:00:00

  • Adverse maternal environment leads to cardiac fibrosis in adult male mice.

    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

    authors: Spearman AD,Ke X,Fu Q,Lane RH,Majnik A

    更新日期:2018-12-01 00:00:00

  • Cytomegalovirus infection in pregnancy.

    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

    authors: Davis NL,King CC,Kourtis AP

    更新日期:2017-03-15 00:00:00

  • The detrimental effect of microplastics on critical periods of development in the neuroendocrine system.

    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

    authors: Solleiro-Villavicencio H,Gomez-De León CT,Del Río-Araiza VH,Morales-Montor J

    更新日期:2020-10-01 00:00:00

  • Gestational and Lactational Exposure to an Environmentally-Relevant Mixture of Brominated Flame Retardants: Effects on Neurodevelopment and Metabolism.

    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

    authors: Tung EWY,Kawata A,Rigden M,Bowers WJ,Caldwell D,Holloway AC,Robaire B,Hales BF,Wade MG

    更新日期:2017-04-17 00:00:00

  • Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

    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

    authors: Xie HM,Taylor DM,Zhang Z,McDonald-McGinn DM,Zackai EH,Stambolian D,Hakonarson H,Morrow BE,Emanuel BS,Goldmuntz E

    更新日期:2019-08-01 00:00:00

  • Dose range finding approach for rodent preweaning juvenile animal studies.

    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

    authors: Posobiec LM,Laffan SB

    更新日期:2020-12-14 00:00:00

  • The effects of NONRATT008453.2 on autophagy in genital tubercle fibroblasts of rats with hypospadias induced by dibutyl phthalate.

    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

    authors: Feng X,Huang E,Gao Y,Zhang Y,Zhou Y

    更新日期:2021-01-15 00:00:00

  • Accuracy of birth certificate head circumference measurements: Massachusetts, 2012-2013.

    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

    authors: Somerville NJ,Chen X,Heinke D,Stone SL,Higgins C,Manning SE,Pagnano S,Yazdy MM,Anderka M

    更新日期:2018-03-15 00:00:00

  • Cigarette smoke induced neural tube defects by down-regulating noggin expression.

    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

    authors: Yin C,Cai H,Yang D,Jian Y,Zhang J,Li Z,Wang D

    更新日期:2021-01-01 00:00:00

  • Chronic exposure to high doses of selenium in the first trimester of pregnancy: Case report and brief literature review.

    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

    authors: D'Oria L,Apicella M,De Luca C,Licameli A,Neri C,Pellegrino M,Simeone D,De Santis M

    更新日期:2018-03-01 00:00:00

  • Screening, genetics, risk factors, and treatment of neonatal cataracts.

    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

    authors: Li J,Xia CH,Wang E,Yao K,Gong X

    更新日期:2017-06-01 00:00:00

  • OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.

    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

    authors: Arteaga-Vázquez J,Luna-Muñoz L,Morales-Suárez JJ,Mutchinick OM

    更新日期:2019-07-01 00:00:00

  • Diverse application of MRI for mouse phenotyping.

    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

    authors: Wu YL,Lo CW

    更新日期:2017-06-01 00:00:00

  • Birth practices: Maternal-neonate separation as a source of toxic stress.

    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

    authors: Bergman NJ

    更新日期:2019-09-01 00:00:00

  • Malformations among infants of mothers with insulin-dependent diabetes: Is there a recognizable pattern of abnormalities?

    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

    authors: Nasri HZ,Houde Ng K,Westgate MN,Hunt AT,Holmes LB

    更新日期:2018-01-01 00:00:00

  • Using State Birth Defects Registries to Evaluate Regional Critical Congenital Heart Disease Newborn Screening.

    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

    authors: Case AP,Miller SD,McClain MR

    更新日期:2017-11-01 00:00:00

  • Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

    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

    authors: Dimopoulos A,Sicko RJ,Kay DM,Rigler SL,Druschel CM,Caggana M,Browne ML,Fan R,Romitti PA,Brody LC,Mills JL

    更新日期:2017-01-20 00:00:00

  • Blood-brain barrier development: Systems modeling and predictive toxicology.

    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

    authors: Saili KS,Zurlinden TJ,Schwab AJ,Silvin A,Baker NC,Hunter ES 3rd,Ginhoux F,Knudsen TB

    更新日期:2017-12-01 00:00:00

  • Recognition of clinical characteristics for population-based surveillance of fetal alcohol syndrome.

    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

    authors: Andrews JG,Galindo MK,Meaney FJ,Benavides A,Mayate L,Fox D,Pettygrove S,O'Leary L,Cunniff C

    更新日期:2018-06-01 00:00:00

  • Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries.

    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

    authors: Agopian AJ,Evans JA,Lupo PJ

    更新日期:2018-01-15 00:00:00

  • The prevalence of birth defects among non-Hispanic Asian/Pacific Islanders and American Indians/Alaska Natives in Texas, 1999-2015.

    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

    authors: Le MT,Shumate CJ,Hoyt AT,Wilkinson AV,Canfield MA

    更新日期:2019-11-01 00:00:00