Prenatal diagnosis of cleft lip with or without cleft palate: Retrospective study and review [Diagnostic anténatal des fentes labiales avec ou sans fente palatine : Étude rétrospective et revue de la littérature]
Guyot A.,Center Pluridisciplinaire Of Diagnostic Prenatal Of Lest Parisien |
Soupre V.,Service de Chirurgie Maxillofaciale et Plastique |
Vazquez M.-P.,Service de Chirurgie Maxillofaciale et Plastique |
Picard A.,Service de Chirurgie Maxillofaciale et Plastique |
And 6 more authors.
Journal de Gynecologie Obstetrique et Biologie de la Reproduction | Year: 2013
Objectives: To evaluate the management of prenatally diagnosed cleft lip with or without cleft palate and the immediate postnatal outcome. Material and methods: Retrospective study of all cases of cleft lip with or without cleft palate referred to our fetal medicine unit, between January 2005 and January 2011. The anatomical type of cleft, associated malformations, and the postnatal outcome were reviewed. Results: Forty-three cases of fetal cleft lip with or without cleft palate were reviewed. The mean gestational age at diagnosis was 24 weeks ± 4. The postnatal distribution of clefts was: 30 cleft lip and palate (70%) and 13 cleft lip (30%). The prenatal diagnosis of the cleft type was exact in 27 cases (62.8%). Nine cases had associated anomalies (21%), detected prenatally in three cases (37.5%). There was no karyotypical abnormality. Six pregnancies were terminated (14%). The immediate postnatal outcome was comparable with unselected newborns. Conclusion: The prenatal diagnosis of cleft lip with or without cleft palate is correct, with two thirds of exact diagnoses. Large clefts palate are the best detected. Associated malformations cannot always be diagnosed by prenatal ultrasound, but have to be searched for because they modify the fetal outcome. © 2012 Elsevier Masson SAS. All rights reserved.
Bonneau D.,French Institute of Health and Medical Research |
Marlin S.,Service de Genetique |
Dupont J.-M.,University of Paris Descartes |
Sobol H.,Institute Paoli Calmettes |
And 7 more authors.
Pathologie Biologie | Year: 2010
This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used. © 2009 Elsevier Masson SAS.
Hypoplasia adrenal congenita of anencephalic type: Two cases with pituitary abnormalities and review of literature [L'hypoplasie surrénale congénitale de type,anencéphalique: deux cas avec anomalies, hypophysaires, sans mutation de DAX-1 et SF-1 et revue de la littérature]
Folligan K.,Laboratoire dhistologie et embryologie moleculaires |
Folligan K.,Laboratoire Dhistologie Embryologie |
Roume J.,Center Hospitalier Poissy Saint Germain |
Razavi F.,Unite de Foetopathologie |
And 4 more authors.
Morphologie | Year: 2011
Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found. © 2010 Elsevier Masson SAS.
Zillhardt J.L.,University of Paris Descartes |
Zillhardt J.L.,French Institute of Health and Medical Research |
Zillhardt J.L.,Hopitaux Universitaires Of Strasbourg |
Poirier K.,University of Paris Descartes |
And 43 more authors.
European Journal of Human Genetics | Year: 2016
To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD. © 2016 Macmillan Publishers Limited.
Legendre M.,French Institute of Health and Medical Research |
Legendre M.,University of Poitiers |
Gonzales M.,Service de Genetique et dEmbryologie Medicales |
Gonzales M.,University Pierre and Marie Curie |
And 37 more authors.
Journal of Medical Genetics | Year: 2012
Background: CHARGE syndrome is a rare, usually sporadic disorder of multiple congenital anomalies ascribed to a CHD7 gene mutation in 60% of cases. Although the syndrome is well characterised in children, only one series of 10 fetuses with CHARGE syndrome has been reported to date. Therefore, we performed a detailed clinicopathological survey in our series of fetuses with CHD7 mutations, now extended to 40 cases. CHARGE syndrome is increasingly diagnosed antenatally, but remains challenging in many instances. Method: Here we report a retrospective study of 40 cases of CHARGE syndrome with a CHD7 mutation, including 10 previously reported fetuses, in which fetal or neonatal clinical, radiological and histopathological examinations were performed. Results: Conversely to postnatal studies, the proportion of males is high in our series (male to female ratio 2.6:1) suggesting a greater severity in males. Features almost constant in fetuses were external ear anomalies, arhinencephaly and semicircular canal agenesis, while intrauterine growth retardation was never observed. Finally, except for one, all other mutations identified in our antenatal series were truncating, suggesting a possible phenotype-genotype correlation. Conclusions: Clinical analysis allowed us to refine the clinical description of CHARGE syndrome in fetuses, describe some novel features and set up diagnostic criteria in order to help the diagnosis of CHARGE syndrome after termination of pregnancies following the detection of severe malformations.