A Retrospective Cohort Study to Evaluate the Association Between Types of Nonsyndromic Oral Clefts and a Child's Gender and Maternal Age

Alrbata, Raed H.; Almaaiteh, Hussein Y; Albdour, Mohammad N; Al-Shammout, Raghda

doi:10.4103/jispcd.jispcd_399_20

Cited by 2 publications

(1 citation statement)

References 27 publications

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“…It has been demonstrated that maternal active/passive smoking during the first pregnancy trimester could significantly elevate the risk of NSCL/P [72]. Furthermore, alcohol consumption [73], drug use [74], increased maternal age at birth [75], infections during pregnancy, and history of miscarriage also contribute to risk [76]. The intake of folic acid and vitamins is another crucial factor.…”

Section: Discussionmentioning

confidence: 99%

Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic

Cheng,

Du,

Long

et al. 2023

Genes

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Non-syndromic cleft lip with or without palate (NSCL/P) is a prevalent birth defect that affects 1/500–1/1400 live births globally. The genetic basis of NSCL/P is intricate and involves both genetic and environmental factors. In the past few years, various genetic inheritance models have been proposed to elucidate the underlying mechanisms of NSCL/P. These models range from simple monogenic inheritance to more complex polygenic inheritance. Here, we present a comprehensive overview of the genetic inheritance model of NSCL/P exemplified by representative genes and regions from both monogenic and polygenic perspectives. We also summarize existing association studies and corresponding loci of NSCL/P within the Chinese population and highlight the potential of utilizing polygenic risk scores for risk stratification of NSCL/P. The potential application of polygenic models offers promising avenues for improved risk assessment and personalized approaches in the prevention and management of NSCL/P individuals.

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Section: Discussionmentioning

confidence: 99%

Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic

Cheng,

Du,

Long

et al. 2023

Genes

View full text Add to dashboard Cite

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Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study

Brăila,

Damian,

Albu

et al. 2024

JCM

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Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. The Objective: This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congenital anomalies. Methods: This study analyzed 17 pregnancies prenatally diagnosed with cleft lip and palate. The investigations consisted of ultrasound examination, fetal karyotyping through amniocentesis, and family tree analysis. In the presence of an abnormal fetal karyotype, the parental karyotype was also indicated. Results: Of the 17 cases identified, 9 (52.94%) were syndromic and 8 (47.06%) were non-syndromic. The genetic syndromes identified in association with cleft lip and palate in this study included translocation syndrome (one case), Patau syndrome, trisomy 13 (seven cases), and Edwards syndrome, mosaic trisomy 18 (one case). Conclusions: A comprehensive approach ensures a thorough assessment and accurate diagnosis. Early detection and a multidisciplinary approach allow appropriate case management.

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A Retrospective Cohort Study to Evaluate the Association Between Types of Nonsyndromic Oral Clefts and a Child's Gender and Maternal Age

Cited by 2 publications

References 27 publications

Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic

Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic

Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study

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