HIGH RISK PREGNANCY FOR ACHONDROPLASIA AND THE IMPORTANCE OF IgG AVIDITY TEST FOR DATING THE INFECTION WITH TOXOPLASMA GONDII. CASE REPORT
Achondroplasia is the most common disproportionate dwarfism caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). The disease is inherited in an autosomal dominant manner, but 80% of cases are due to a de novo mutation. We present a couple consisting of a man with achondroplasia and a woman with normal stature. The man was diagnosed with achondroplasia at 5 years old, on clinical and radiographic basis. At age of 28 the molecular testing by PCR-RFLP confirmed the clinical diagnosis, being detected the G1138A heterozygote mutation in FGFR3 gene. The couple asks for genetic counseling when woman was pregnant, and the couple was concerned about the possibility of transmission of mutation to children. The woman was tested by TORCH screen and was found positive testing for IgM and IgG antibodies against Toxoplasma gondii. The IgG avidity test for Toxoplasma gondii indicated the absence of recent infection with this parasite. Thus, the couple decided to continue the pregnancy, but demanded a prenatal diagnosis for achondroplasia. Molecular analyze was done on the DNA extracted from fetal cells obtained by early amniocentesis and the fetus wasn’t a carrier of a mutation responsible for achondroplasia. A normal baby was born at term. In conclusion, we present the particularities of a high-risk pregnancy for achondroplasia and the utility of some tests for discrimination between recently acquired and an old infection with Toxoplasma gondii.
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