A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

Maarse, Wiesje; Rozendaal, Anna M.; Pajkrt, Eva; Vermeij‐Keers, Christl; Molen, Aebele B. Mink van der; Boogaard, Marie‐José H. van den

doi:10.1136/jmedgenet-2012-101013

Cited by 98 publications

(112 citation statements)

References 42 publications

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“…Of these nine cases, one (7 %) had normal karyotype (entry 11) and three (21 %) had an abnormal one -structural chromosomal aberrations twice (entries 1 and 4) and triploidy once (entry 6). The cultivation of fi ve samples was unsuccessful (entries 5,[8][9][10]12) and the determination of their karyotype was impossible. Four cases (29 %) in R II group had normal karyotype (entries 2, 3, 7 and 11) -two cases had a unilateral CLP on the left side (entries 2 and 7), one on the right side (entry 3) and the already mentioned one had a bilateral CLP (entry 11).…”

Section: Resultsmentioning

confidence: 99%

“…Four cases (29 %) in R II group had normal karyotype (entries 2, 3, 7 and 11) -two cases had a unilateral CLP on the left side (entries 2 and 7), one on the right side (entry 3) and the already mentioned one had a bilateral CLP (entry 11). Associated congenital disorders were found in 11 cases (79 %; entries 3-4, 6-14) -3 with unilateral CLP (once on the left side in entry 7 and twice on the right side in entries 3 and 13), 7 with bilateral CLP (entries 4,6,[8][9][10][11][12] and one where the laterality is unknown (entry 14).…”

Section: Resultsmentioning

confidence: 99%

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Can we predict orofacial cleft in future pregnancy?

Malová¹,

Braxatorisová²,

Luha³

et al. 2016

BLL

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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.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Can we predict orofacial cleft in future pregnancy?

Malová¹,

Braxatorisová²,

Luha³

et al. 2016

BLL

View full text Add to dashboard Cite

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“…The link between oral clefts and microaberrations, albeit not limited postnatally to newborn population, was specifically studied by Maarse et al [14], who reviewed 13 studies of isolated cleft lip/palate and suggested a yield of 1% for clinically significant CNVs in this group. Other studies comparing isolated clefts revealed that significantly more de novo and parental CNVs would be found in the prenatal cases of isolated clefts than in the postnatal group [15,16,17].…”

Section: Discussionmentioning

confidence: 99%

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Szczałuba¹,

Nowakowska²,

Sobecka³

et al. 2015

Neonatology

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Cleft lip with or without cleft palate is one of the most common birth defects of unknown etiology. A fraction of its genetic causes is attributable to copy number variations detected by array comparative genomic hybridization. The value of array comparative genomic hybridization screening as a first-tier test in the newborn population with multiple congenital anomalies has now been accepted. Due to unspecific clinical picture at this age, it can also be applied to neonates with isolated anomalies. Our purpose was to assess utility of array comparative genomic hybridization in the population of newborns with isolated cleft lip and palate. We conducted the study in a group of 52 Polish newborns with apparently isolated cleft lip and palate. In the study group, we found 8 rearrangements. Of these, 2 de novo events have been noted that potentially explain the phenotype. In addition, 2 novel candidate genes for cleft lip and palate, CHN2 and CDH19, are suggested. Given the high number of inherited potentially benign changes, we question the clinical utility of array comparative genomic hybridization in the newborn population with isolated cleft lip and palate, at the same time pointing to the need of skilled professional's clinical assessment at a later age. However, the value of this technology in searching for the cause of isolated anomalies cannot be underestimated.

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“…Clinically, the anatomic-functional alteration of one, or many, structures (lip, alveolar process, hard and soft palate) is observed. The cleft lip, or cleft palate, can occur alone or together, and might be complete or incomplete, uni-or bilateral [1,2].…”

Section: Introductionmentioning

confidence: 99%

New Instrument for Oral Hygiene of Children with Cleft Lip and Palate

et al. 2018

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Abstract:Patients with cleft lip and palate (CLP) have several oral alterations that make the removal of bacterial plaque in the cleft area difficult, which is the main cause of the high incidence of oral health problems. The aim of this study is to develop a toothbrush especially designed to perform the hygiene of the cleft area. This device, called Cleft Toothbrush, is an add-on to a conventional toothbrush to clean hard-to-reach areas that are not accessible by using conventional brush shapes. The design was made in SOLIDWORKS®(Waltham, MA, USA) 3D and a sample of this device was produced by CURAPROX (Kriens, Switzerland). The efficacy of the Cleft Toothbrush was tested in a preliminary study performed in a four years old child with CLP, compared to that of a conventional toothbrush. A significantly higher reduction of the bacterial plaque was achieved with the Cleft Toothbrush. The child's parents also felt more confident with this device, as it deals better with sensitive areas, as it did not hurt the child. This innovative toothbrush adapter appears to greatly improve the cleaning areas of high bacterial plaque retention in patients with CLP, together with excellent acceptance.

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A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?

Cited by 98 publications

References 42 publications

Can we predict orofacial cleft in future pregnancy?

Can we predict orofacial cleft in future pregnancy?

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

New Instrument for Oral Hygiene of Children with Cleft Lip and Palate

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