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A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
  1. Wies Maarse1,
  2. Anna Maria Rozendaal2,3,
  3. Eva Pajkrt4,
  4. Christl Vermeij-Keers2,
  5. Aebele Barber Mink van der Molen1,
  6. Marie-José Henriëtte van den Boogaard5
  1. 1Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
  2. 2Research Unit of the Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
  3. 3Department of Orthodontics, Erasmus MC – Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
  4. 4Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Academic Medical Center Amsterdam, Amsterdam, The Netherlands
  5. 5Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
  1. Correspondence to Dr Marie-José Henriëtte van den Boogaard, Department of Medical Genetics, University Medical Centre Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands; m.j.h.vandenboogaard{at}umcutrecht.nl

Abstract

Background Oral clefts—comprising cleft lip (CL), cleft lip with cleft palate (CLP), and cleft palate (CP)—are being diagnosed prenatally more frequently. Consequently, the need for accurate information on the risk of associated anomalies and chromosomal defects to aid in prenatal counselling is rising. This systematic review was conducted to investigate the prenatal and postnatal prevalence of associated anomalies and chromosomal defects related to cleft category, thereby providing a basis for prenatal counselling and prenatal invasive diagnostics.

Methods Online databases were searched for prenatal and postnatal studies on associated anomalies and chromosomal defects in clefts. Data from the literature were complemented with national validated data from the Dutch Oral Cleft Registry.

Results Twenty studies were included: three providing prenatal data, 13 providing postnatal data, and four providing both. Data from prenatal and postnatal studies showed that the prevalence of associated anomalies was lowest in CL (0–20.0% and 7.6–41.4%, respectively). For CLP, higher frequencies were found both prenatally (39.1–66.0%) and postnatally (21.1–61.2%). Although CP was barely detectable by ultrasound, it was the category most frequently associated with accompanying defects in postnatal studies (22.2–78.3%). Chromosomal abnormalities were most frequently seen in association with additional anomalies. In the absence of associated anomalies, chromosomal defects were found prenatally in CLP (3.9%) and postnatally in CL (1.8%, 22q11.2 deletions only), CLP (1.0%) and CP (1.6%).

Conclusions Prenatal counselling regarding prognosis and risk of chromosomal defects should be tailored to cleft category, and more importantly to the presence/absence of associated anomalies. Irrespective of cleft category, clinicians should advise invasive genetic testing if associated anomalies are seen prenatally. In the absence of associated anomalies, prenatal conventional karyotyping is not recommended in CL, although array comparative genomic hybridisation should be considered. In presumed isolated CLP or CP, prenatal invasive testing, preferably by array based methods, is recommended.

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Footnotes

  • ▸ Additional supplementary tables are published online only. To view these files please visit the journal online (http://dx.doi.org/10.1136/jmedgenet-2012-101013)

  • Competing interests All authors declare that they had: (1) no financial support for the submitted work from anyone other than their employer; (2) no financial relationships with commercial entities that might have an interest in the submitted work; (3) no spouses, partners, or children with relationships with commercial entities that might have an interest in the submitted work; (4) no non-financial interests that may be relevant to the submitted work.

  • Funding There are no sources of funding for this study.

  • Ethics approval Studies of anonymous data from health registries do not require ethical approval in the Netherlands. The principles outlined in the Declaration of Helsinki were followed.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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