Difficulties in prenatal diagnostics trisomy 20 and its mosaic


Authors: A. Staníková 1;  I. Grochová 2;  I. Borek 1
Authors‘ workplace: Neonatologické oddělení FN Brno primář MUDr. I. Borek 1;  Centrum prenatální diagnostiky, Cytogenetická laboratoř, Brno vedoucí MUDr. P. Vlašín 2
Published in: Čes-slov Pediat 2012; 67 (6): 390-392.
Category: Case Report

Overview

Trisomy of chromosome 20 is probably not compatible with life, whereas the mosaic of trisomy 20 belongs to most frequent chromosomal aberrations in general, mostly with a favorable phenotype. Our case report deals with a newborn of prenatally diagnosed complete trisomy 20 in amniocytes. It was not confirmed in peripheral blood after birth. However, subsequent examination of caryotype from buccal mucosa cells as well as the urinary sediment revealed mosaic of trisomy 20. The patient suffers from inborn developmental defect of uropoietic and cardiovascular system.

The aim of the case report is to draw attention to difficulties in the diagnostics of chromosomal aberrations. The prognosis of a specific newborn cannot be precisely defined without a detailed prenatal and, especially, postnatal examination.

Key words:
trisomy 20, mosaicism, chromosomal aberrations, prenatal diagnostics


Sources

1. Hsu LY. Genetic counseling: Preconception, prenatal and perinatal. In: Milunsky A (ed). Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 4th ed. Baltimore and London: The Johns Hopkins University Press, 1998: 1.

2. Descartes M, Carroll AJ. Cytogenetics. In: Nelson Textbook of Pedia-trics. 18th ed. Philadelphia: Saunders, 2007: 1–506.

3. Joó JG, Beke A, Tóth-Pal E, et al. Trisomy 20 mosaicism and nonmosaic trisomy 20: a report of 2 cases. J Reprod Med 2006; 51: 209–212.

4. Morales C, Cuatrecasas E, Mademont-Soler I, et al. Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues. Eur J Med Gen 2010; 53: 197–200.

5. Robinson WP, Mcgillivray B, Lewis MES, et al. Prenatally detected trisomy 20 mosaicsm. Prenat Diagn 2005; 25: 239–244.

6. Willis MJH, Bird LM, Dell‘ Aquilla M, Jones MC. Expanding the phenotype of mosaic trisomy 20. Am J Med Genet Part A 2008; 146: 330–336.

7. James PA, Gibson K, McGaughran J. Prenatal diagnosis of mosaic trisomy 20 in New Zeland. Aust N Z J Obstet Gynaecol 2002; 42 (5): 476–489.

8. Hsu LYF, Yu MT, Richkind KE. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed preanatally through amniocentesis: A collaborative study. Prenat Diagn 1996; 16: 1–28.

9. Wallerstein R, Yu MT, Neu RL, et al. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype – phenotype correlations. Prenat Diagn 2000; 20: 103–122.

Labels
Neonatology Paediatrics General practitioner for children and adolescents
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