Australian Birth Defects Society

A Society devoted to the study of birth defects

Quick round-up of interesting articles that have passed my desk this month.

Journal Club

April 2017

February 2017

Page updated 8 June 2017

Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation. Eur J Med Genet 60 (2017) 22e31

Exposure to teratogens sometimes results in recognizable patterns of malformations,. What complicates diagnosis is that several genetic syndromes are phenocopies of some of these malformations. Genetic phenocopies are often caused by mutations in genes which are targets of these teratogens or part of the same molecular pathways. This paper reviews some of the suspected genetic phenocopies of prenatal exposure to warfarin, leflunomide, mycophenolate mofetil, fluconazole, thalidomide and ACE inhibitors.


The impact of thalidomide use in birth defects in Brazil Eur J Med Genet 60 (2017) 12e15

Between 1969-1995, 34 cases of thalidomide embryopathy were reported in South America. Despite restrictions there were three new cases in 2005 and 2006; in two of the cases, the mothers procured thalidomide through a close relative.


Detection of fetal abnormalities by second-trimester ultrasound screening in a non-selected population. Acta Obstet Gynecol Scand 96 (2017) 176–182 

This study assessed the sensitivity of routine ultrasound examination for the detection of abnormal chromosomes and structural malformations in fetuses in the second trimester by comparing the frequency of prenatal diagnoses of fetal abnormalities through routine ultrasound examination to that confirmed at birth.  The study found that the prenatal detection rate of chromosomal abnormalities was 60.7% and 39.0% for structural malformations.


Gestational nanomaterial exposures: microvascular implications during pregnancy, fetal development and adulthood. J Physiol (2016) 594:2161-73

A systematic review of literature encompassing nanoparticle exposure before, and during pregnancy as well as possible effects in adults. Possible mechanisms of action are described.


Maternal nutritional status as a contributing factor for the risk of fetal alcohol spectrum disorders. Repro Toxicol (2016) 59:101-8.

This South African study compared  the nutritional status of mothers of children with FAS. They found that most mothers were deficient in most micronutrients. Although control mothers had a higher BMI than FAS mothers. Maternal BMI is more significant for positive, food intake was similar. The authors conclude that any minor advantages in nutrient intake were overpowered by teratogenic effects of alcohol.


Serotonin and poor neonatal adaptation after antidepressant exposure in utero. Acta Neuropsych (2017) 29:43-53.

Poor neonatal adaptation, such as restlessness, tremors or sleeping difficulties are observed in babies exposed to psychotropic medications in late gestation. This study included 63 infants exposed to selective antidepressants (SAD) in the last 2 weeks of pregnancy. The neonatal 5-hydroxyindoleacetid acid (5-HIAA) levels were followed for the first 3 days postpartum. 5-HIAA levels were higher in babies with poor neonatal adaptation on Day 1 compared to SAD-exposed infants who did not develop adaptation problems.