2,832 results match your criteria Birth defects research[Journal]


Plastics derived endocrine-disrupting compounds and their effects on early development.

Birth Defects Res 2020 Jun 1. Epub 2020 Jun 1.

Department of Nutrition, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway.

Despite the fact that the estrogenic effects of bisphenols were first described 80 years ago, recent data about its potential negative impact on birth outcome parameters raises a strong rationale to investigate further. The adverse health effects of plastics recommend to measure the impacts of endocrine-disrupting compounds (EDCs) such as bisphenols (BPA, BPS, BPF), bis(2-ethylhexyl) phthalate, and dibutyl phthalate (DBP) in human health. Exposure to these compounds in utero may program the diseases of the testis, prostate, kidney and abnormalities in the immune system, and cause tumors, uterine hemorrhage during pregnancy and polycystic ovary. Read More

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http://dx.doi.org/10.1002/bdr2.1741DOI Listing

Mason Barr and the Face of Humanity.

Authors:
Joseph R Siebert

Birth Defects Res 2020 May 30. Epub 2020 May 30.

Department of Pathology, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1002/bdr2.1718DOI Listing

The joy and duty of a marginal teratologist.

Authors:
John J Mulvihill

Birth Defects Res 2020 May 27. Epub 2020 May 27.

Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.

On the occasion of this anniversary of the Society for Birth Defects Research and Prevention, I accept the invitation to offer personal reflections on the earlier days of the Society and the importance of the discipline. My focus is on what few contributions I have offered, but more, on the value of having the teratologist's perspective on other aspects of my career in medical genetics and genetic epidemiology. Treating my professional life as a development biologist (of which teratologists are a breed), I recount the institutions I have been at, but more importantly, the people I have been influenced by, more often than not accomplished teratologists. Read More

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http://dx.doi.org/10.1002/bdr2.1713DOI Listing

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.

Birth Defects Res 2020 May 27. Epub 2020 May 27.

UOC Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Background: Several somatic mutations in TRAF7 have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies.

Cases: We report two subjects harboring de novo heterozygous missense variants in TRAF7, namely the recurrent 1964G>A(p.Arg655Gln) and the novel missense c. Read More

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http://dx.doi.org/10.1002/bdr2.1711DOI Listing

Periconceptional folic acid supplement use among women of reproductive age and its determinants in central rural Germany: Results from a cross sectional study.

Birth Defects Res 2020 May 22. Epub 2020 May 22.

Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany.

Background: Prevalence of neural tube defects (NTD) has not decreased in Germany despite longstanding recommendations for folic acid supplementation. To examine the prevalence of periconceptional folic acid supplement use and associated factors among German women of reproductive age.

Methods: Cross-sectional survey was conducted in hospital-based maternity units in rural Germany. Read More

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http://dx.doi.org/10.1002/bdr2.1714DOI Listing

3-Methylglutaconic aciduria type VIII in an Indian neonate.

Birth Defects Res 2020 May 22. Epub 2020 May 22.

Department of Neonatology, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.

Neonatal encephalopathy manifests with altered sensorium, tone abnormalities, and often with abnormal movements and seizures. The causes are heterogeneous and many. We report a late preterm neonate who presented with depressed sensorium, cranial nerve abnormalities, mixed hypertonia and hypotonia, and respiratory failure. Read More

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http://dx.doi.org/10.1002/bdr2.1717DOI Listing

Variations in maternal vitamin A intake modifies phenotypes in a mouse model of 22q11.2 deletion syndrome.

Birth Defects Res 2020 May 20. Epub 2020 May 20.

Institute for Neuroscience, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.

Background: Vitamin A regulates patterning of the pharyngeal arches, cranial nerves, and hindbrain that are essential for feeding and swallowing. In the LgDel mouse model of 22q11.2 deletion syndrome (22q11DS), morphogenesis of multiple structures involved in feeding and swallowing are dysmorphic. Read More

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http://dx.doi.org/10.1002/bdr2.1709DOI Listing

Paternal exposure to recreational drugs before conception and its effect on live-born offspring: A scoping review.

Birth Defects Res 2020 May 20. Epub 2020 May 20.

Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Background: Men of reproductive age increasingly use recreational drugs. While many of these substances may reduce the quantity and quality of sperm, less is known about the effects of these exposures on their offspring. We performed a scoping review to summarize the available literature and identify areas for future research on the outcome of live-born offspring of fathers who were exposed to recreational drugs before conception. Read More

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http://dx.doi.org/10.1002/bdr2.1702DOI Listing

Risk of malformation after ondansetron in pregnancy: An updated systematic review and meta-analysis.

Birth Defects Res 2020 May 18. Epub 2020 May 18.

Service Hospitalo-Universitaire de Pharmaco-Toxicologie, Hospices Civils de Lyon, Lyon, France.

Ondansetron is increasingly used off label to treat nausea and vomiting during pregnancy. The main objective of this study was to evaluate the risk of major congenital malformations (MCM), cardiac defects and orofacial clefts associated with first trimester exposure to ondansetron using a meta-analytic approach. MEDLINE, ClinicalTrials. Read More

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http://dx.doi.org/10.1002/bdr2.1705DOI Listing

Reflections-Richard Kermit Miller, PhD April 12, 2020.

Authors:
Richard K Miller

Birth Defects Res 2020 May 16. Epub 2020 May 16.

Obstetrics/Gynecology, University of Rochester Medical Center, Rochester, New York, United States.

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http://dx.doi.org/10.1002/bdr2.1704DOI Listing

Male-to-female ratios among NTDs and women's periconceptional intake of folic acid.

Birth Defects Res 2020 May 16. Epub 2020 May 16.

Baylor College of Medicine, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Houston, Texas, USA.

Background: About a decade ago, a hypothesis was put forward to explain the preponderance of females among neural tube defect (NTD) fetuses. That hypothesis predicts that a woman's higher levels of early gestational intake of methyl groups, such as folic acid, will be associated with lesser male-to-female ratio differences in NTD-affected births, specifically less preponderance of females. We explored this hypothesis in four distinct studies that investigated human NTDs, obtained information on folic acid, and capitalized on timing of folic acid fortification by investigating data that were collected both prior to and after the 1998 initiation of U. Read More

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http://dx.doi.org/10.1002/bdr2.1708DOI Listing

Perspectives on challenges and opportunities for birth defects surveillance programs during and after the COVID-19 era.

Birth Defects Res 2020 May 16. Epub 2020 May 16.

Human Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.

In recent months, various public health measures have been implemented throughout the world in response to the coronavirus disease 2019 (COVID-19) pandemic. This outbreak, and the subsequent containment policies, may have a range of potential short- and long-term impacts on the monitoring and surveillance of other conditions, such as birth defects. In this commentary, we provide a perspective on these potential impacts on birth defects surveillance and analysis. Read More

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http://dx.doi.org/10.1002/bdr2.1710DOI Listing

Maternal risk factors for gastroschisis: A population-based case-control study.

Birth Defects Res 2020 May 14. Epub 2020 May 14.

Department of Paediatric Surgery and Orthopaedics, University of Turku and Turku University Hospital, Turku, Finland.

Background: Gastroschisis is an open abdominal wall defect with low mortality but significant morbidity. The prevalence has been increasing worldwide for the past decades. Several risk factors for gastroschisis have been identified, but no clear reason for increasing prevalence has been found. Read More

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http://dx.doi.org/10.1002/bdr2.1703DOI Listing

The first 60 years: Honoring Teratology's past, a new perspective on the future.

Birth Defects Res 2020 May 5. Epub 2020 May 5.

Charles River Laboratories, Inc., Horsham, Pennsylvania, USA.

Background: This paper updates the history of the Teratology Society, now known as the Society for Birth Defects Research and Prevention (BDRP), for its first 60 years and describes the current strategy to position the Society to continue to advance its multidisciplinary science in the future. Common threads across our history include the positive impact of the Society's approach to sharing multidisciplinary, cutting-edge science and the collegial nature of the annual meetings.

Aim: In recent years, we have tackled challenging issues through periodic strategic planning sessions to improve the impact of the Society and its value to our members. Read More

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http://dx.doi.org/10.1002/bdr2.1688DOI Listing

Preconception telomere length as a novel maternal biomarker to assess the risk of spina bifida in the offspring.

Birth Defects Res 2020 May 2;112(9):645-651. Epub 2020 May 2.

Department of Obstetrics and Gynaecology, Erasmus University Medical Center, Rotterdam, The Netherlands.

Background: Periconception interactions between maternal conditions and environmental and genetic factors are involved in the pathogenesis and prevention of neural tube defects (NTD), such as spina bifida. These factors have in common that they can impair the oxidative pathway, resulting in excessive (chronic) oxidative stress and inflammation.

Methods: Review of the literature concerning underlying mechanisms and biomarkers of aging particularly during reproduction. Read More

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http://dx.doi.org/10.1002/bdr2.1682DOI Listing

The association between legalization of recreational marijuana use and birth outcomes in Colorado and Washington state.

Birth Defects Res 2020 May 30;112(9):660-669. Epub 2020 Apr 30.

School of Nursing, University of Virginia, Charlottesville, Virginia, USA.

Objective: To identify trends in birth outcomes that may be associated with legalization of recreational marijuana which occurred in 2013 using vital records from Colorado and Washington states for the period of 2008-2016.

Methods: Data were from birth certificates of live births (between 22 and 44 weeks gestation) of which there were 576,369 singleton births included for Colorado and 771,547 for Washington State. Outcomes included preterm birth defined as <37 completed weeks of gestation; small for gestational age (SGA) defined using <10th percentile birthweight z-score; and birth prevalence of congenital anomalies defined using a variable from the birth certificate that indicated any major defect. Read More

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http://dx.doi.org/10.1002/bdr2.1680DOI Listing

Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.

Birth Defects Res 2020 Apr 29. Epub 2020 Apr 29.

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.

Background: Hydrocephalus is characterized by increased cerebrospinal fluid within the brain, a causally heterogeneous disorder estimated to affect 1 per 1,000 live births, with the most severe cases often leading to fetal demise. The large number of known genetic and environmental factors that contribute to hydrocephalus makes the differential diagnosis challenging.

Cases: Three consecutive pregnancies of an unrelated couple were found by ultrasound to carry fetuses with hydrocephaly. Read More

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http://dx.doi.org/10.1002/bdr2.1699DOI Listing

Angiotensin-converting enzyme insertion/deletion (ACE I/D) gene polymorphism in Egyptian children with congenital heart disease.

Birth Defects Res 2020 Apr 28. Epub 2020 Apr 28.

Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Background: Congenital heart diseases (CHDs) are the leading cause of infant deaths worldwide. The relationship between angiotensin-converting enzyme (ACE) gene polymorphism and CHDs is not clear. The aim of this work is to assess the presence of an association between ACE I/D polymorphism and CHD in Egyptian population. Read More

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http://dx.doi.org/10.1002/bdr2.1700DOI Listing

Maternal risk factors for the VACTERL association: A EUROCAT case-control study.

Birth Defects Res 2020 May 22;112(9):688-698. Epub 2020 Apr 22.

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, The Netherlands.

Background: The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for involvement of several genes and nongenetic risk factors from small studies, the etiology of VACTERL remains largely unknown.

Objective: To identify maternal risk factors for VACTERL in offspring in a large European study. Read More

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http://dx.doi.org/10.1002/bdr2.1686DOI Listing

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.

Birth Defects Res 2020 May 16;112(9):670-687. Epub 2020 Apr 16.

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

Background: Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. Read More

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http://dx.doi.org/10.1002/bdr2.1683DOI Listing

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.

Birth Defects Res 2020 May 14;112(9):652-659. Epub 2020 Apr 14.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

The LRP4 gene encodes the highly conserved low-density lipoprotein receptor-related protein 4 (LRP4), which acts as a co-receptor for sclerostin. Sclerostin and LRP4 negatively regulate WNT/β-catenin signaling pathway and lack of their inhibitory activity leads to constant osteoblastic differentiation. Consequently, increased bone formation occurs, which in the case of LRP4 mutations results in sclerosteosis type 2 (SOST2). Read More

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http://dx.doi.org/10.1002/bdr2.1676DOI Listing

Joint position statement on vaccines from the Society for Birth Defects Research and Prevention and the Organization of Teratology Information Specialists.

Birth Defects Res 2020 Apr;112(7):527-534

Department of Genetic Medicine, Munroe Meyer Institute, University of Nebraska Medical Center Omaha, Omaha, Nebraska, USA.

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http://dx.doi.org/10.1002/bdr2.1674DOI Listing

Two-generation reproduction and limited teratology studies of ethanamizuril fed to rats.

Birth Defects Res 2020 May 2;112(8):573-583. Epub 2020 Apr 2.

Key Laboratory of Veterinary Chemical Drugs and Pharmaceutics, Ministry of Agriculture and Rural Affairs, Shanghai Veterinary Research Institute, Chinese Academy of Agricultural Sciences, Shanghai, China.

Ethanamizuril, a new anticoccidial agent that belongs to triazine derivatives, has a broad and good anticoccidial activity. To evaluate the reproductive toxicity and teratogenic potential of ethanamizuril, different concentrations of ethanamizuril were administered to Sprague-Dawley rats by feeding diets containing 0, 2, 8, and 30 ppm, respectively. Each group consisting of 30 males and 30 females (F0) was treated with different concentrations of ethanamizuril through a 13-week period before mating and during mating, gestation, parturition and lactation. Read More

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http://dx.doi.org/10.1002/bdr2.1678DOI Listing

Clinical characteristics and neonatal outcomes of liveborn newborns with hydrops fetalis treated in a tertiary level neonatal intensive care unit.

Birth Defects Res 2020 Apr;112(6):515-522

Department of Neonatology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.

Background: This study was performed for examining the neonatal results and aetiological factors of neonates with hydrops fetalis (HF) and determining the factors affecting mortality.

Methods: The medical records of liveborn neonates with HF who were admitted to a tertiary Neonatal Intensive Care Unit (NICU) in Konya, Turkey, between 2013 and 2019 were reviewed retrospectively. The demographic data, prenatal intervention, clinical findings, and results of the patients were recorded. Read More

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http://dx.doi.org/10.1002/bdr2.1640DOI Listing

GTP hydrolysis is modulated by Arg34 in the RASopathy-associated KRAS.

Birth Defects Res 2020 Mar 18. Epub 2020 Mar 18.

Department of Biochemistry and Radiation Oncology, The University of Texas Southwestern Medical Center at Dallas, Dallas, Texas.

RAS proteins are commonly mutated in cancerous tumors, but germline RAS mutations are also found in RASopathy syndromes such as Noonan syndrome (NS) and cardiofaciocutaneous (CFC) syndrome. Activating RAS mutations can be subclassified based on their activating mechanisms. Understanding the structural basis for these mechanisms may provide clues for how to manage associated health conditions. Read More

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http://dx.doi.org/10.1002/bdr2.1647DOI Listing

Maternal diet as a risk factor for primary congenital glaucoma and defects of the anterior segment of the eye in the National Birth Defects Prevention Study.

Birth Defects Res 2020 Apr 10;112(6):503-514. Epub 2020 Mar 10.

Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Primary congenital glaucoma (PCG) and anterior segment defects (ASDs) are rare ocular malformations diagnosed early in life which can cause blindness. Pathogenic variants in several genes have been linked to these conditions, but little is known about nongenetic risk factors. We investigated the association between maternal nutrition and PCG and ASDs in the National Birth Defects Prevention Study, a large population-based, multicenter case-control study of major birth defects in the United States. Read More

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http://dx.doi.org/10.1002/bdr2.1664DOI Listing

Acculturation and selected birth defects among non-Hispanic Blacks in a population-based case-control study.

Birth Defects Res 2020 Apr 5;112(7):535-554. Epub 2020 Mar 5.

Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Background: There are noted birth defects prevalence differences between race/ethnicity groups. For instance, non-Hispanic (NH) Black mothers are more likely to have an infant with encephalocele, although less likely to have an infant with anotia/microtia compared to NH Whites. When stratifying by nativity and years lived within the United States, additional variations become apparent. Read More

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http://dx.doi.org/10.1002/bdr2.1665DOI Listing

Gestational exposure to valproic acid upregulates total Stat3 protein expression while downregulating phosphorylated Stat3 in CD-1 mouse embryos with neural tube defects.

Birth Defects Res 2020 Apr 5;112(7):555-568. Epub 2020 Mar 5.

Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, K7L 3N6, Canada.

Valproic acid (VPA), a widely prescribed antiepileptic drug and an effective treatment for psychiatric disorders, is teratogenic causing neural tube defects (NTDs) and other defects in the exposed embryo. Signal transducer and activator of transcription 3 (Stat3) is a transcription factor that is activated via tyrosine phosphorylation. Stat3, as well as its active form (pYStat3), is expressed during neural tube closure in murine development. Read More

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http://dx.doi.org/10.1002/bdr2.1666DOI Listing

Effects of low-dose chlorpyrifos on neurobehavior and potential mechanisms: A review of studies in rodents, zebrafish, and Caenorhabditis elegans.

Authors:
Marilyn H Silva

Birth Defects Res 2020 Apr 1;112(6):445-479. Epub 2020 Mar 1.

Retired from a career in regulatory toxicology and risk assessment.

Objectives: Exposure to chlorpyrifos (CPF), a neurotoxic insecticide, is implicated with adverse neurodevelopmental effects in children through noncholinergic mechanisms.

Methods: This review presents qualitative and quantitative evidence in three animal models (rodent, zebrafish, and Caenorhabditis elegans), for neurodevelopmental and behavioral effects occurring at CPF doses lower than those inhibiting acetylcholinesterase (AChE).

Results: CPF treatment in rodents at low noncholinergic doses during neurodevelopment showed behavioral effects, including locomotor activity, neuromotor function (NMF), cognition, anxiety, social behavior, and maternal care. Read More

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http://dx.doi.org/10.1002/bdr2.1661DOI Listing

Mandatory newborn screening in the United States: History, current status, and existential challenges.

Birth Defects Res 2020 Mar;112(4):350-366

Department of Pediatrics, Section of Genetics and Metabolism, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado.

Beginning in the 1960s, mandatory newborn screening (NBS) of essentially all infants has been a major public health success story. NBS is not just a blood test, rather, it is a complex, integrated system that begins with timely testing, scrupulous follow up of patients, tracking of outcomes, quality improvement of all aspects of the process, and education of providers, staff, and parents. In the past, expansion of NBS programs has been driven by new testing technology, but now is increasingly driven by the development of novel therapeutics and political advocacy. Read More

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http://dx.doi.org/10.1002/bdr2.1653DOI Listing

The de-coders: A historical perspective of the genetic counseling profession.

Authors:
Leslie Cohen

Birth Defects Res 2020 Mar;112(4):307-315

Sema4 Genomics, Stamford, Connecticut.

The genetic counseling profession is a relatively new medical specialty that has evolved over time in keeping with advanced in the medical genetics field. Genetic counselors are master's-level trained individuals who apply their skills to assist patients in understanding the genetic etiology of disease, assessing risk for genetic disease, and providing support to those who are encountering a genetic disorder in themselves or family member. Formal training of genetic counselors began nearly 50 years, and since then, the field has been expanding and advancing. Read More

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http://dx.doi.org/10.1002/bdr2.1629DOI Listing

Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.

Birth Defects Res 2020 Mar;112(4):293-306

Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, Ohio.

Genetic testing is beneficial for patients and providers when in search of answers to medical problems related to the prenatal or early postnatal period. It can help to identify the cause or confirm a diagnosis associated with developmental delay, intellectual disability, dysmorphic features, heart defects, multiple malformations, short stature, stillbirth, neonatal death, or fertility problems. Genetic testing can be used to rule out single-gene or chromosome abnormalities. Read More

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http://dx.doi.org/10.1002/bdr2.1648DOI Listing

Genetic counseling of high-risk isolated populations: A worldwide challenge.

Birth Defects Res 2020 Mar;112(4):316-320

Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.

Background: Isolated populations with high rates of consanguinity and genetic disorders can be found in most parts of the world. The aim of our paper was to highlight the unique challenges faced in genetic counseling for such patients and to discuss the ways to facilitate the difficulties, with an emphasis on the crucial role of electronic medical records (EMR).

Case: We report a couple presenting with elevated maternal alpha-fetoprotein in three pregnancies, in which an erroneous diagnosis of epidermolysis bullosa was established in the past and carried along through several years. Read More

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http://dx.doi.org/10.1002/bdr2.1633DOI Listing

Is preparation a good reason for prenatal genetic testing? Ethical and critical questions.

Authors:
Marsha Michie

Birth Defects Res 2020 Mar;112(4):332-338

Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, Ohio.

As prenatal genetic testing technologies have become both easier and more accessible, women are increasingly choosing prenatal genetic testing for a reason that is largely unexamined in the clinical literature: preparation. This reasoning, offered not only from pregnant women but frequently from testing laboratories and health care providers, reflects long-held assumptions that prenatal genetic results-properly delivered and followed with information, clinical surveillance, and/or social supports-prepare families for a child with a genetic condition, and even improve health and social outcomes for children and families. But these assumptions remain unexamined, since there are no clear definitions or recommendations for prenatal preparation. Read More

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http://dx.doi.org/10.1002/bdr2.1651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158133PMC

Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997-2011.

Birth Defects Res 2020 Mar 27;112(5):427-439. Epub 2020 Feb 27.

Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa.

Background: Neural tube defects (NTD)s are common birth defects with a multifactorial etiology. Findings from human studies examining environmental (non-inherited) exposures tend to be inconclusive. In particular, although animal studies of alcohol exposure and NTDs support its teratogenic potential, human studies are equivocal. Read More

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http://dx.doi.org/10.1002/bdr2.1656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099604PMC

Introduction to the special issue on "Genetic Screening and Testing".

Birth Defects Res 2020 Mar 21;112(4):289-292. Epub 2020 Feb 21.

Department of Pediatrics, Case Western Reserve University, School of Medicine, Rainbow Babies and Children's Hospital, The Congenital Heart Collaborative, Cleveland, Ohio.

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http://dx.doi.org/10.1002/bdr2.1637DOI Listing

The teratogenic effects of sertraline in mice.

Birth Defects Res 2020 Feb 19. Epub 2020 Feb 19.

Department of Pediatrics, Dell Pediatric Research Institute, Dell Medical School, University of Texas at Austin, Austin, Texas.

Background: Selective serotonin reuptake inhibitors (SSRIs), which include paroxetine (Paxil), sertraline (Zoloft), fluoxetine (Prozac), citalopram (Celexa), and escitalopram (Lexapro), are the most common antidepressants prescribed to pregnant women. There is considerable debate in the literature regarding the developmental toxicities of SSRIs individually, and as a class.

Methods: It is considered unethical to perform developmental toxicity studies on pregnant women, but rodent and nonrodent species provide laboratory-controlled experimental models to examine the toxicity of SSRI exposure during pregnancy. Read More

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http://dx.doi.org/10.1002/bdr2.1660DOI Listing
February 2020

Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report.

Birth Defects Res 2020 Feb 17. Epub 2020 Feb 17.

Unit of Genetics and Metabolic diseases, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

We report the case of a 14-year-old girl that was referred to the maxillo facial surgery unit at age 11 years because she exhibited swelling in the right side of her maxilla and right mandible. After a conservative surgery, she started with interferon alpha-2a to avoid recurrence. She has remained in treatment with successful results during her follow up. Read More

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http://dx.doi.org/10.1002/bdr2.1659DOI Listing
February 2020

Choline ameliorates ethanol induced alterations in tyrosine phosphorylation and distribution in detergent-resistant membrane microdomains of L1 cell adhesion molecule in vivo.

Birth Defects Res 2020 Apr 13;112(6):480-489. Epub 2020 Feb 13.

Division of Neonatology, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland.

Background: Exposure to ethanol during pregnancy is the cause of fetal alcohol spectrum disorder. The function of L1 cell adhesion molecule (L1), critical for proper brain development, is dependent on detergent-resistant membrane microdomains (DRM). Ethanol at low concentrations disrupts L1 function measured by inhibition of downstream signaling and alterations in L1-DRM distribution in cerebellum in vivo and in cerebellar granule neurons (CGN) in vitro. Read More

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http://dx.doi.org/10.1002/bdr2.1657DOI Listing

Association between body mass index and folate insufficiency indicative of neural tube defects risk among nonpregnant women of childbearing age in the United States, NHANES, 2007-2010.

Birth Defects Res 2020 Apr 13;112(6):490-502. Epub 2020 Feb 13.

Department of Epidemiology, Rollins School of Public Health of Emory University, Atlanta, Georgia.

Background: Maternal folate status and obesity are known risk factors for neural tube defects (NTD) in the offspring. We examined the association between body mass index (BMI) categories and blood folate concentrations, specifically, red blood cell (RBC) folate concentrations indicative of NTD risk among nonpregnant women of child-bearing age (20-44 years) in the United States.

Methods: We used data from 2007 to 2010 US National Health and Nutrition Examination Survey (NHANES). Read More

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http://dx.doi.org/10.1002/bdr2.1658DOI Listing

Comorbidities in situs inversus totalis: A hospital-based study.

Birth Defects Res 2020 Mar 29;112(5):418-426. Epub 2020 Jan 29.

Respirology Department, Children's Hospital of Fudan University, Shanghai, China.

Background And Objective: Few studies have assessed the comorbid diseases in situs inversus totalis (SIT) comprehensively. The aim of this study was to provide insight into the spectrum and prevalence of comorbidities in SIT.

Methods: Children ≤18 years of age with SIT were enrolled in this retrospective observational study. Read More

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http://dx.doi.org/10.1002/bdr2.1652DOI Listing

Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system.

Birth Defects Res 2020 Mar 14;112(5):404-417. Epub 2020 Jan 14.

Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, Georgia.

Background: Previous studies suggested associations between maternal smoking, a source of exposure to polycyclic aromatic hydrocarbons (PAHs) and other chemicals, and central nervous system and face birth defects; however, no previous studies have evaluated maternal occupational PAH exposure itself.

Methods: Jobs held in the periconceptional period were retrospectively assigned for occupational PAH exposures. Associations between maternal occupational PAH exposure and selected rare defects of the face (cataracts, microphthalmia, glaucoma, microtia, and choanal atresia) and central nervous system (holoprosencephaly, hydrocephaly, cerebellar hypoplasia, and Dandy-Walker malformation) were evaluated using data from the National Birth Defects Prevention Study, a population-based case-control study in the United States. Read More

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http://dx.doi.org/10.1002/bdr2.1643DOI Listing

The role of teratogens in neural crest development.

Birth Defects Res 2020 May 11;112(8):584-632. Epub 2020 Jan 11.

Área Biología Experimental, Instituto Superior de Investigaciones Biológicas (INSIBIO, CONICET-UNT), Tucumán, Argentina.

The neural crest (NC), discovered by Wilhelm His 150 years ago, gives rise to a multipotent migratory embryonic cell population that generates a remarkably diverse and important array of cell types during the development of the vertebrate embryo. These cells originate in the neural plate border (NPB), which is the ectoderm between the neural plate and the epidermis. They give rise to the neurons and glia of the peripheral nervous system, melanocytes, chondrocytes, smooth muscle cells, odontoblasts and neuroendocrine cells, among others. Read More

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http://dx.doi.org/10.1002/bdr2.1644DOI Listing

5-year experience of a tertiary center in major congenital abnormalities in singleton pregnancies.

Birth Defects Res 2020 May 11;112(8):633-639. Epub 2020 Jan 11.

Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey.

Objective: To demonstrate major congenital abnormalities delivered or terminated at our institution between 2014 and 2018.

Materials And Methods: Necessary information was retrieved from the registries of the delivery room and electronic database of Hacettepe University Hospital, Ankara.

Results: This study was consisted of 307 major congenital anomalies. Read More

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http://dx.doi.org/10.1002/bdr2.1645DOI Listing

Tetanus, diphtheria, and pertussis vaccine (Tdap) in pregnancy and risk of major birth defects in the offspring.

Birth Defects Res 2020 Mar 5;112(5):393-403. Epub 2020 Jan 5.

Slone Epidemiology Center at Boston University, Boston, Massachusetts.

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 studies have considered major malformations as a single outcome, and have not examined potential risks for specific malformations.

Methods: Using data from the Slone Epidemiology Center Birth Defects Study collected between 2006 and 2015, we identified exposures to Tdap vaccine in both early and late pregnancy and examined potential risks for specific malformations. Read More

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http://dx.doi.org/10.1002/bdr2.1642DOI Listing

Orthopedic findings in arthrogryposis and congenital Zika syndrome: A case series.

Birth Defects Res 2020 Mar 31;112(5):385-392. Epub 2019 Dec 31.

Post-graduate Program in Health Sciences, Universidade de Pernambuco, Recife, Brazil.

Background: Congenital arthrogryposis (CA) consists of congenital joint contractures that affect at least two joints in different parts of the body. Approximately, 80% of CA cases are neurogenic, with changes to the formation, structure or functioning of the central and/or peripheral nervous systems. Most abnormalities are triggered either by motoneurons decreased activation in the corticospinal tract or by direct motoneurons injury. Read More

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http://dx.doi.org/10.1002/bdr2.1641DOI Listing

Of embryos and tumors: Cyclopia and the relevance of mechanistic teratology.

Authors:
John M DeSesso

Birth Defects Res 2020 Feb 28;112(3):219-233. Epub 2019 Dec 28.

Exponent, Alexandria, Virginia.

Embryos and tumors share several characteristics, but embryos differ from tumors in their coordination of cellular- and tissue-level processes, including organized differentiation, remodeling of tissues through apoptosis, and disciplined migrations of cells. Embryonic cellular events are kept on track through orderly cell-cell communication via signal transduction pathways. If the pathways are disrupted, development is perturbed, and malformation may result. Read More

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http://dx.doi.org/10.1002/bdr2.1636DOI Listing
February 2020

Pre-pregnancy dietary arsenic consumption among women in the United States.

Birth Defects Res 2020 Feb 21;112(3):270-277. Epub 2019 Dec 21.

Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa.

Background: Arsenic is associated with several adverse health outcomes, including some birth defects. Although diet is the predominant route of arsenic exposure in the United States (U.S. Read More

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http://dx.doi.org/10.1002/bdr2.1634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099603PMC
February 2020

Absence of developmental and reproductive toxicity in animals exposed to dolutegravir.

Birth Defects Res 2020 Feb 20;112(3):245-261. Epub 2019 Dec 20.

Non-Clinical Safety, Research & Development, Viiv Healthcare, Research Triangle Park, North Carolina.

The success of new antiretroviral medicines for HIV resulted in a change to guidelines of standard therapy where continuation of antiretroviral therapy is recommended to maintain the low viral load during pregnancy, thereby preventing transmission of the virus to the fetus. As a result, pregnancy related exposure to HIV medicines has increased. Understanding the safety of these medicines during pregnancy is of paramount importance to ensure health of mothers and their offspring; well-designed animal studies that evaluate the reproductive life cycle play a key role in this effort. Read More

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http://dx.doi.org/10.1002/bdr2.1635DOI Listing
February 2020

Maternal surgery and anesthesia during pregnancy and risk of birth defects in the National Birth Defects Prevention Study, 1997-2011.

Birth Defects Res 2020 Jan 16;112(2):162-174. Epub 2019 Dec 16.

Congenital Malformations Registry, New York State Department of Health, Albany, New York.

Background: There is little recent research on the teratogenicity of maternal anesthesia exposure. We used National Birth Defects Prevention Study data to describe surgical procedures conducted during pregnancy and to estimate the risk of birth defects associated with periconceptional anesthesia exposure.

Methods: We used logistic regression to assess associations between general and local anesthesia for surgery during the periconceptional period and specific birth defects. Read More

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http://dx.doi.org/10.1002/bdr2.1616DOI Listing
January 2020