Birth Defects

News Birth Defects

• NSF grant boosts research on proteins that affect fertility

  Infertility among men is a complex disorder that scientists are still trying to understand. Professor of Biology Diana Chu studies one factor that affects male fertility, and her research has attracted a new grant from the National Science Foundation (NSF). In 2006, Chu identified new proteins found more

• No increased risk of stillbirth and infant mortality when a pregnant woman uses SSRI drugs

  Treating a pregnant woman with anti-depressant SSRI drugs does not increase the risk of stillbirth or infant mortality, according to a new study that examined more than 1.6 million births. The information has been gathered from the registers of births and dispensed drugs in Denmark, Finland, Iceland more

• Higher risk of birth defects from assisted reproduction

  A University of Adelaide study has identified the risk of major birth defects associated with different types of assisted reproductive technology.In the most comprehensive study of its kind in the world, researchers from the University's Robinson Institute have compared the risk of major birth defec more

White papers Birth Defects

• High-Throughput Cardiac Gene Expression Analysis Using the Universal ProbeLibrary and the Novel LightCycler® 1536 Real-Time PCR System
  

  Although congenital heart malformations are the most common birth defects in humans, the underlying patho­mechanisms remain widely unknown. Through linkage analyzes and candidate-gene approaches, several gene mutations causing congenital heart defects (e.g., CITED2, GATA4, NKX2-5) have been identified. However, most heart malformations display variable expressivity and pene­trance, which indicates a multifactorial and multigenic basis. This suggests that the regulatory context of transcription factors plays an important role in the manifestation of the defects. In order to better understand the molecular pathways in cardiogenesis and disease we studied the global genetic network that is deregulated in malformed hearts more

Publications Birth Defects

• Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta‐Analysis

  Methylenetetrahydrofolate reductase (MTHFR) is essential for DNA biosynthesis and the epigenetic process of DNA methylation, and its gene polymorphisms have been implicated as risk factors for birth defects, neurological disorders, and cancers. However, reports on the association of MTHFR polymorp more

• Personalizing prenatal care using family health history: identifying a panel of conditions for a novel electronic genetic screening tool

  In the age of genomic medicine, family health history (FHH) remains an important tool for personalized risk assessment as it can inform approaches to disease prevention and management. In primary care, including in prenatal settings, providers recognize that FHH enables them to assess the risk for b more

• Human Cytomegalovirus Infection Elicits New Decidual Natural Killer Cell Effector Functions

  by Johan Siewiera, Hicham El Costa, Julie Tabiasco, Alain Berrebi, Géraldine Cartron, Philippe Bouteiller, Nabila Jabrane-Ferrat During the first trimester of pregnancy the uterus is massively infiltrated by decidual natural killer cells (dNK). These cells are not killers, but they rather more

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