• RESMERITA Irina “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • POPA Setalia “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • GORDUZA Oana Cornelia “Grigore T. Popa” University of Medicine and Pharmacy Iasi
  • DANILA Mihaela “Cuza-Vodă” Clinical Hospital of Obstetrics and Gynecology, Iasi, Romania
  • FLOREA Ioana “Sf. Spiridon” County Clinical Emergency Hospital, Iasi
  • MIHALCEANU Elena “Grigore T. Popa” University of Medicine and Pharmacy Iasi


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.

Author Biographies

RESMERITA Irina, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine

POPA Setalia, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine

GORDUZA Oana Cornelia, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Medical Student

MIHALCEANU Elena, “Grigore T. Popa” University of Medicine and Pharmacy Iasi

Faculty of Medicine
Department of Mother and Child Medicine
Cuza-Vodă” Clinical Hospital of Obstetrics and Gynecology, Iasi, Romania


1. Legare JM. Achondroplasia. 1998 Oct 12 [Updated 2020 Aug 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Gene Reviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1152/ Accessed November 10, 2020.
2. Prevalence and incidence of rare diseases: Bibliographic data. Orphanet Report Series Number 1 January 2020. Available from: https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_ of_rare_diseases_by_alphabetical_list.pdf. Accessed November 5, 2020.
3. Coi A, Santoro M, Garne E, et al. Epidemiology of achondroplasia: A population‐based study in Europe. Am J Med Genet A 2019; 179(9): 1791-1798.
4. Waller DK, Correa A, Vo TM, et al. The population‐based prevalence of achondroplasia and thana-tophoric dysplasia in selected regions of the US. Am J Med Genet A 2008; 146(18): 2385-2389.
5. Wilkin DJ, Szabo JK, Cameron R, et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998; 63: 711-716.
6. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis 2019; 14(1): 1-49.
7. Foreman PK, van Kessel F, van Hoorn R, van den Bosch J, Shediac R, Landis S. Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis. Am J Med Genet A 2020; 182(10): 2297-2316.
8. Gollust SE, Thompson RE, Gooding HC, Biesecker BB. Living with achondroplasia in an average‐sized world: An assessment of quality of life. Am J Med Genet A 2003; 120(4): 447-458.
9. Sireteanu A, Popescu R, Braha EE, et al. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability. Rev Rom Med Lab 2014; 22(2): 157-164.
10. Stiru O, Gorduza EV, Dorobantu FL, et al. Surgical management of type A acute aortic dissection in patients with Marfan syndrome: a single center experience. Rev Med Chir Soc Med Nat Iasi 2016; 120(3): 611-618.
11. Hunter AG. Some psychosocial aspects of nonlethal chondrodysplasias: II. Depression and anxiety. Am J Med Genet 1998; 78(1): 9-12.
12. Robert-Gangneux F, Dardé ML. Epidemiology of and diagnostic strategies for toxoplasmosis. Clin Microbiol Rev 2012; 25(2): 264-296.
13. McAuley JB. Congenital toxoplasmosis. J Pediatric Infect Dis Soc 2014; 3(suppl 1): S30-35.
14. Tenter AM, Heckeroth AR, Weiss LM. Toxoplasma gondii: from animals to humans. Int J Parasitol 2000; 30(12-13): 1217-58.
15. Olariu TR, Remington JS, McLeod R, Alam A, Montoya JG. Severe congenital toxoplasmosis in the United States: clinical and serologic findings in untreated infants. Pediatr Infect Dis J 2011; 30(12): 1056-1061.
16. Jones JL, Lopez A, Wilson M, Schulkin J, Gibbs R. Congenital toxoplasmosis: a review. Obstet Gynecol Surv 2001; 56(5): 296-305.
17. Montoya JG, Liesenfeld O. Toxoplasmosis. Lancet 2004; 363: 1965-1976.
18. Hoover-Fong J, Scott CI, Jones MC. Health Supervision for People with Achondroplasia. Pediatrics 2020; 145(6): e20201010 / doi: 10.1542/peds.2020-1010.
19. Gug C, Caba L, Mozos I, et al. Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case re-port and review of the literature. Gene 2020; 144565 / doi: 10.1016/j.gene.2020.144565.
20. Pânzaru M, Rusu C, Voloşciuc M, et al. Benefits of cytogenetic testing in diagnosis of plurimalfor-mative syndromes with congenital heart defects. Rev Rom Med Lab 2012; 20(3/4): 265-272.
21. Spiridon MR, Petris AO, Gorduza EV, Petras AS, Popescu R, Caba L. Holt-Oram syndrome with multiple cardiac abnormalities. Cardiol Res 2018; 9(5): 324-329.
22. Cozaru GC, Butnariu LI, Gorduza EV. Genetic counselling in reproductive disorders. Procedia-Social and Behavioral Sciences 2012; 33: 213-217.
23. Gug C, Burada F, Ioana M, et al. Polyploidy in First and Second Trimester Pregnancies in Romania-a Retrospective Study. Clinical laboratory 2020; 66(4) / doi: 10.7754/Clin.Lab.2019.190649.
24. Gorduza EV, Popescu R, Caba L, et al. Prenatal diagnosis of 21 trisomy by quantification of methylated fetal DNA in maternal blood: study on 10 pregnancies. Rev Rom Med Lab 2013; 21(3): 275-284.
25. Pomares C, Montoya JG. Laboratory diagnosis of congenital toxoplasmosis. J Clin Microbiol 2016; 54(10): 2448-2454.
26. Hotop A, Hlobil H, Groß U. Efficacy of rapid treatment initiation following primary Toxoplasma gondii infection during pregnancy. Clin Infect Dis 2012; 54(11): 1545-1552.
27. SYROCOT (Systematic Review on Congenital Toxoplasmosis) study group. Effectiveness of prenatal treatment for congenital toxoplasmosis: a meta-analysis of individual patients’ data. Lancet 2007; 369(9556): 115-122.
28. Garnaud C, Fricker-Hidalgo H, Evengård B, et al. Toxoplasma gondii-specific IgG avidity testing in pregnant women. Clin Microbiol Infect 2020; 26(9): 1155-1160.