[FISH technique in aneuplodies prenatal diagnosis]

E V Gorduza; M Onofriescu; Violeta Martiniuc; Mihaela Grigore; Elena Mihălceanu; Gh Iliev

[FISH technique in aneuplodies prenatal diagnosis]

Rev Med Chir Soc Med Nat Iasi. 2007 Oct-Dec;111(4):990-5.

[Article in Romanian]

Authors

E V Gorduza¹, M Onofriescu, Violeta Martiniuc, Mihaela Grigore, Elena Mihălceanu, Gh Iliev

Affiliation

¹ Disciplina de Genetică Medicală, Universitatea de Medicină si Farmacie "Gr.T. Popa", Iaşi.

PMID: 18389793

Abstract

Chromosomal disorders are severe and affect 0.9% of the newborns. In these conditions, prenatal diagnosis should be compulsory in every public medical system.

Material and method: Our study is a retrospective analysis of pregnant women investigated by amniocentesis and FISH technique.

Results: We analyzed 233 samples collected between 2004 and 2007 at Iaşi "Cuza-Vodă" Obstetrics and Gynecology Hospital. The majority of cases were investigated between 16 and 24 weeks of pregnancy. Thirty-eight abnormal cases (16.30%) were identified: 17 cases with 21 trisomy, 16 cases with 18 trisomy, 3 cases with X monosomy, and 2 cases with 13 trisomy. The main reasons for amniocentesis were: advanced maternal age (12.5% abnormal cases) ultrasound abnormalities (26.15% abnormal cases), and biochemical abnormalities (7.14% abnormal cases).

Conclusion: Our data are in agreement with other studies, and support our results.

Publication types

English Abstract

MeSH terms

Amniocentesis*
Aneuploidy*
Chromosome Disorders / diagnosis*
Chromosome Disorders / genetics
Cytogenetic Analysis*
Down Syndrome / diagnosis
Female
Humans
In Situ Hybridization, Fluorescence* / methods
Predictive Value of Tests
Pregnancy
Prenatal Diagnosis / methods*
Retrospective Studies
Ultrasonography, Prenatal