Efficiency of prenatal diagnosis in Pierre Robin sequence

Pasquo, E. di; Amiel, Jeanne; Roth, P.; Malan, Valérie; Lind, Katia; Chalouhi, Christel; Soupre, V.; Gordon, Christopher T.; Lyonnet, Stanislas; Salomon, Laurent; Abadie, Véronique

doi:10.1002/pd.5162

Cited by 20 publications

(21 citation statements)

References 36 publications

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“…Our results are consistent with the findings of Di Pasquo et al () showing that the presence of family history of PRS is associated with a favorable prognosis. Besides family history, the presence of additional US findings was an important prognostic factor.…”

Section: Discussionsupporting

confidence: 93%

“…Twenty‐five percent of chromosomal abnormalities identified in our cohort are small copy number variations (smaller than 10 Mb) that can be detected only by array CGH. The current strategy is therefore to perform array CGH after having ruled out aneuploidies by fluorescence in situ hybridization (FISH) on interphase nuclei (Di Pasquo et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…having ruled out aneuploidies by fluorescence in situ hybridization (FISH) on interphase nuclei (DiPasquo et al, 2017).The monogenic disorders identified in this series were represented by mandibulofacial dysostoses, constitutional bone diseases, and neurological disorders, usually made after birth or TOP. Micrognathia isF I G U R E 1 (a,b) Case 28 with diagnosis of Treacher Collins syndrome suspected in prenatal and confirmed after termination of pregnancy.…”

mentioning

confidence: 97%

“…Presence of micrognathia in fetus is an indicator of a possible fetal pathology justifying multidisciplinary management. Diagnosing PRS is a major challenge in order to anticipate neonatal distress (Di Pasquo et al, 2017;Resnick et al, 2018). Short-term prognosis depends on respiratory obstruction that could be severe or not, whether facing a PRS or not.…”

mentioning

confidence: 99%

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Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

Mouthon

Busa

Bretelle

et al. 2019

American J of Med Genetics Pt A

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Fetal micrognathia can be detected early in pregnancy. Prognosis of micrognathia depends on the risk of respiratory distress at birth and on the long-term risk of intellectual disability. The purpose of this study was to evaluate the long-term prognosis of fetuses with prenatal diagnosis of micrognathia by estimating the prevalence and the severity of confirmed genetic diagnosis in our cohort. Our retrospective study included 41 fetuses with prenatal diagnosis of micrognathia referred to the multidisciplinary centers for prenatal diagnosis in Nice and Marseille, France, between 2006 and 2016.Fetal micrognathia was associated with cleft palate in 27 cases. A genetic cause was confirmed in 21 cases (67%). A chromosomal abnormality was present in 12 cases, including three copy-number variations diagnosed by array CGH. Monogenic disorders were identified in nine cases, most often after birth. Fetuses with family history of micrognathia or Pierre Robin sequence had a favorable outcome. Prognosis was good for the fetuses without associated findings and normal chromosomal analysis, with the exception of one case with a postnatal diagnosis of mandibulofacial dysostosis with microcephaly. Prognostic was poor for the fetuses with additional ultrasound anomalies, as only 5 out of 28 children had a good outcome. Prenatal diagnosis of micrognathia is an indicator of a possible fetal pathology justifying multidisciplinary management. Our study confirms the necessity of performing prenatal array CGH.Use of high-throughput gene sequencing in prenatal period could improve diagnostic performance, prenatal counseling, and adequate postnatal care.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 97%

mentioning

confidence: 99%

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Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

Mouthon

Busa

Bretelle

et al. 2019

American J of Med Genetics Pt A

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show abstract

“…Although micrognathia can be seen on fetal ultrasound, this finding alone has a poor predictive value for postnatal RS . Glossoptosis, the direct cause of airway obstruction, may be more specific to RS than micrognathia, but is difficult to identify by sonography .…”

Section: Introductionmentioning

confidence: 98%