Can we predict orofacial cleft in future pregnancy?

Area of Science:

• Developmental biology
• Medical genetics
• Teratology

Background:

• Orofacial clefts are common birth defects.
• A significant portion of orofacial clefts are associated with chromosomal abnormalities.

Purpose of the Study:

• To determine the frequency and types of orofacial clefts.
• To identify associated developmental and chromosomal abnormalities.
• To establish the sex of embryos/fetuses with orofacial clefts.

Main Methods:

• Retrospective morphological and cytogenetic study.
• Analysis of 43 cases from miscarriages and premature births (1992-2014).

Main Results:

• Associated abnormalities were found in 34 cases, including skeletal anomalies (29), neural tube defects (24), and abdominal wall defects (9).
• Chromosomal aberrations were identified in 32% of cases with successful cultivation.
• The R III group exhibited the highest rate of associated anomalies (93.3%).

Conclusions:

• Isolated clefts did not show a higher risk of chromosomal aberrations in this study.
• Early embryonic/fetal age (43 days to 12 weeks) may hinder diagnosis of some associated defects.
• Morphological and cytogenetic analysis aids in identifying etiologic factors for miscarriages and provides prognostic information for future pregnancies.