Home Bratislava Medical Journal 2016 Bratislava Medical Journal Vol.117, No.7, p.401-406, 2016

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.564


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Bratislava Medical Journal Vol.117, No.7, p.401-406, 2016

Title: Can we predict orofacial cleft in future pregnancy?
Author: J. Malova, T. Braxatorisova, J. Luha, A. Totka, D. Bohmer

Abstract: AIM: The aim of this thesis was not only to define the frequency of all orofacial clefts and their particular types, but also to determine the sex of an embryo or fetus and detect associated developmental and chromosomal abnormalities. Approximately one third of orofacial clefts are a part of chromosomal syndromes.
MATERIALS AND METHODS: Retrospective morphological and cytogenetic study of 43 cases of different types of orofacial clefts between 1992–2014 from miscarriages (spontaneous abortions) and premature births.
RESULTS: Associated abnormalities were found in 34 cases. Most of the anomalies were skeletal anomalies (29), NTD (24) and anomalies of the abdominal wall (9). Most associated anomalies were found in the R III group (93.3 %). Eleven of the successfully cultivated cases (26 %) had a normal karyotype and in 14 of the cases (32 %), numerical or unbalanced structural chromosomal aberrations were found.
CONCLUSION: Our data did not show that isolated clefts were not associated with a higher risk of chromosomal aberrations. Higher percentage of chromosomal aberrations found in isolated clefts in our pool can be explained by the age of the embryos and fetuses – usually between day 43 and week 12. It is nearly impossible to diagnose some associated congenital defects at such an early age. Thanks to the morphological and cytogenetic analysis of embryos and fetuses with orofacial cleft, it is possible to estimate if not determine the etiologic factor which influenced the miscarriage. Additionally, in the case of birth defects, the prognosis for future pregnancy can be offered, which is important information for gynecologist and clinical geneticist (Tab. 5, Fig. 5, Ref. 31).

Keywords: cleft lip, cleft lip and palate, cleft palate, associated abnormalities
Published online: 12-Jul-2016
Year: 2016, Volume: 117, Issue: 7 Page From: 401, Page To: 406

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