Can we predict orofacial cleft in future pregnancy?

Abstract

AIM: The aim of this thesis was not only to defi ne 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 infl uenced 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). Text in PDF www.elis.sk.

Prenatal diagnosis of cleft lip and cleft lip palate – a case series

“…Our results are similarly to those reported in the literature underlining a more frequent association between CLP and a higher number of minor defects and syndromes [32]. The most common associated anomalies with CL and/or palate involve those of skeleton and neural tube defects [1,8,9]. Of our 4 CLP cases that presented associated anomalies, we also encountered 2 cases with central nervous system involvement, 2 cases with kidney impairment, 1 case with skeleton defects, but we also found a case with the absence of a stomach.…”

“…Orofacial clefts comprise of cleft lip (CL) or cleft lippalate (CLP) and are the most frequently encountered malformation of the facial area that develop during the 6 th -8 th week of the intrauterine life. They represent also the second most common birth defects [1,2]. The etiology of these malformations involves multiple factors.…”

Cleft Lip and/or Cleft Palate: Prenatal Accuracy, Postnatal Course, and Long-Term Outcomes

“…Cleft lip (CL) and/or cleft palate (CP) are the second most common congenital anomalies, and the most frequently detected craniofacial malformations [ 1 ]. The worldwide prevalence of orofacial clefts varies from 1 to 2.2/1000 live births [ 2 , 3 ]. Facial cleft is attributed to failure of the nasal and maxillofacial processes to fuse during embryogenesis at 6 to 8 weeks of embryonic life [ 4 ].…”