April 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.