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Biomedical subjects

C Fredouille

Publications and source records attributed to C Fredouille.

At least 19 recordsLinked to original sources
PubMed2005

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown. METHODS: We studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. CHD7 sequence analysis and in situ hybridisation were employed. RESULTS: The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Interestingly, arhinencephaly and semi-circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the CHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome. CONCLUSIONS: These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.

Abnormalities, Multiple↗
PubMed2005

[Linear insertion of the atrioventricular valves without defect].

On a first anatomical series of 52 hearts of trisomic 21 fetuses, published in June 2002, we described a new minor cardiac anomaly, belonging to the atrioventricular septal defect, with a linear insertion of the atrioventricular valves without defect. We want to confirm these data, on a larger series of 213 new hearts of trisomic 21 fetuses by adding a complementary section to the standard examination; 100% of controls have shown a normal insertion with an offsetting of the atrioventricular valves. On 113 out of these 213 hearts of trisomic 21 fetuses, with a so called "normal" heart at the standard examination showing no defect, the complementary section has shown that only 37.2% of these hearts have a normal insertion, whereas 62.83% show a linear insertion, without offsetting and without any septal defect. This linear insertion has been observed in all the different types of atrioventricular septal defect as a good hallmark for trisomy 21; but, since then, they have always been described associated with a septal defect, atrial or ventricular. Our hypothesis is that the linear insertion of the atrioventricular valves without defect is the minor form of the atrioventricular septal defect spectrum, taking place between the prior described partial types of atrioventricular septal defect, in which there is always a defect (ostium primum type atrial septal defect or inflow type ventricular septal defect), and the real normal heart. A precise description of the level of the complementary section and of the anatomic peculiarities of the linear insertion of the atrioventricular valves without defect would help its screening in fetal ultrasonography.

Autopsy↗
PubMed2004

Value of fetal autopsy after medical termination of pregnancy.

We carried out a retrospective study of 352 medical terminations of pregnancy (MTP) carried out in a large French administrative region over two consecutive years. We analysed the indications for MTP and then compared the prenatal ultrasound diagnosis with fetal autopsy findings in order to demonstrate the value of pathological examination of the fetus in prenatal diagnosis and genetic counselling as well as the need to check by autopsy the quality of ultrasound screening. Preliminary analysis of the indication for these MTP showed that in 69.9% ultrasound screening had been carried out, revealing mainly brain abnormalities (22.2%) and heart defects generally associated with chromosomal abnormalities (32.1%). Prenatal findings were in agreement with autopsy results, showing no false-positive prenatal diagnoses. However, in 7.9% of cases in which brain abnormalities were detected, confirmation was not possible at autopsy because of tissue autolysis, showing the need for optimal conditions of expulsion. In 35.8% of cases, confirmation of the diagnosis by autopsy was not useful for management but still added to medical knowledge and demonstrated to the mother the reality of the defects. In 50.9%, the autopsy findings were decisive for genetic counselling.

Aborted Fetus↗
PubMed2003

Congenital atrioventricular block: histological aspects.

It is known that maternal immunological factors such as systemic disease are involved in the genesis of cardiac conduction problems in the fetus but the histologic changes in the conduction system are less documented. We report the case of a 33-year-old woman with no significant medical history. Her first pregnancy was induced by Clomifene. At 17 weeks of gestation, the fetus presented sonographic abnormalities characteristic of a complete atrioventricular block. Biological investigations found anti-SSA and -SSB antibodies. Clinical history search for systemic disease was positive for photosensitivity, lasting 10 years, suggesting the diagnosis of systemic lupus erythematosus. The patient was treated with prednisone 20 mg per day but fetal death occurred at 29 weeks of gestation. Histological examination of the fetal heart showed an altered atrioventricular node and bundle of His with fibrosis, calcifications, endocardial fibroelastosis and mononucleated inflammatory cells. The search for these specific lesions can be determinant in establishing the disease pathogenesis; also, it is important to eliminate this diagnosis in an unexplained fetal death.

Female↗
PubMed2002

Value of fetal skeletal radiographs in the diagnosis of fetal death.

The aim of this study was to assess the value of fetal skeletal radiographs in determining the etiology of fetal death. A total of 1193 post-mortem fetal skeletal radiographs were analysed. Fetuses were classified into one of three groups (group I: abnormality diagnosed during pregnancy; group II: maternal pathology; group III: spontaneous abortion of pregnancy, IIIa before 26 weeks of gestation (WG), IIIb after 26 weeks of gestation). Face, supine and lateral skeletal views were performed. Skeletal abnormalities were detected in 33.9% of the fetuses, including 22.7% with minor abnormalities (abnormal rib number, no nasal bone ossification, amesophalangia or P2 hypoplasia of the fifth digit) and 14.5% with major abnormalities (other skeletal abnormalities). Among the fetuses with major abnormalities, 98.8% came from group I, 2.9% came from group II, 2.3% came from group IIIa and none came from group IIIb. Fetal skeletal radiographs are not useful in fetuses arising from spontaneous abortion of pregnancy without abnormality on ultrasound screening, abnormality clinical examination or in fetuses with prenatal diagnosis of chromosomal abnormality. This practice is valuable only if there is a multidisciplinary team, with all the participants (pathologists, radiologists, geneticists) knowledgeable about fetal pathology. In the absence of this multidisciplinary approach, it is easier to X-ray all fetuses to avoid misdiagnosis and the important consequences for genetic counselling.

Bone Diseases↗
PubMed2001

Postmortem assessment of fetal diaphyseal femoral length: validation of a radiographic methodology.

Depending on the general condition of fetal remains, forensic specialists might face difficulties concerning age estimation. Reference tables and regression equations are helpful devices in this task, although they are generally applied for complete fetuses or fetal remains including soft tissues. However, the problem of age estimation stays for osseous remains, both for entire bones and ossified parts, since most of the reference tables come from ultrasonographic measurements, which are not easily reproducible on fetal osseous remains. Furthermore, the ultrasonographic measurements contain slight errors in comparison to the real anatomical ones. This study describes a radiographic protocol and a measurement technique that facilitate and improve bone measurements, and therefore, facilitate age estimation, too. A qualitative criterion, namely a clear-cut bony endplate, was defined and tested. Its reliability (repeatability and reproducibility) turned out to be good, showing nonsignificative differences to the threshold of 0.05, with average errors of 0.26 and 0.44 mm respectively. Moreover, concerning the test of eventual size differences between the right and left femurs showed a P value < 0.0001. The test of the qualitative criterion was based on the comparison of the radiographic in situ femur measurements and the radiographic measurements of the same bones after dissection. The results were satisfactory, since an average error of 0.58 mm was obtained, which did not give any significant differences to the threshold of 0.05. It was concluded that this methodology provides an easy and precise new measurement tool for forensic practice, and can allow us to establish some nonultrasonographic tables, which fit our population.

Age Determination by Skeleton↗
PubMed2000

[Ultrasonographically normal fetal heart].

The fetal heart must be systematically checked in routine ultrasonographic examination to detect any cardiac abnormality. The quality of the examination requires good knowledge of development and anatomy of the fetal heart. A complete examination will study inflow and outflow tracts: inflow tract on the four-chamber view, outflow tract by a static and dynamic study of the great arteries (on section in fetal axial and saggital planes). All cardiac abnormalities indicate the need for a fetal karyotype after a complete morphologic study. Atrioventricular septal defect (ASD) for Down's syndrome and malaligment septal defect of cono-truncal pathology are both excellent signs of chromosome abnormality. Special attention must be paid to cardiac abnormalities without a prenatal diagnosis due to the prognosis risk: complete transposition and total abomalous venous connection. These cardiac abnormalities, as well as complex isolated congenital heart disease, require a cardiopediatric evaluation to determine prognosis and management strategy.

Echocardiography↗
PubMed1999

Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study.

OBJECTIVE: To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. MATERIALS AND METHODS: Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). RESULTS: We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). CONCLUSIONS: Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis.

Bone and Bones↗
PubMed1999

Prenatal diagnosis of left ventricular aneurysm: a report of three cases and a review.

We report three cases of left ventricular aneurysm diagnosed prenatally and followed by fetal Doppler echocardiography. A review of the literature reveals a paucity of information about this rare cardiac malformation. Most of the described cases (6 out of 9) have remained asymptomatic during pregnancy and after birth. Our cases, in contrast, and three others in the literature, had an ominous prognosis presenting cardiac failure initially or during follow up and showing a dynamic evolution of the aneurysm. Cross-sectional echocardiography provides the diagnosis, revealing the thin-walled aneurysm, usually apical, to be connected by a broad neck to the left ventricle. Color and pulsed Doppler shows low velocity and to-and-fro flow in the aneurysm. Sequential fetal Doppler echocardiography detects the potential growth of the aneurysm relative to ventricular size, revealing any compromise of cardiac performance by a decreased mitral opening, reversed atrial shunting, a hypokinetic infero-posterior left ventricular wall, and a poor systolic thickening of the wall of the aneurysm. Compromise of cardiac function, and deleterious impact on development of the lungs during fetal life, may depend on the early onset, growth and location of the aneurysm,which may occupy most of the fetal chest. We discuss issues of prenatal diagnosis, sequential surveillance of the natural history, and factors of prognosis as well as myocardial histological data from one of our cases.

Adult↗
PubMed1998

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1998

Developmental gene expression and immunohistochemical study of the human endocrine pancreas during fetal life.

The development of human endocrine pancreas has been the subject of many immunohistochemical studies but very little is known at the molecular level. We have determined the patterns of gene expression of glucagon, somatostatin and pancreatic polypeptide during fetal life (16-41 weeks of gestation) using the dot-blot hybridization method. In spite of some dispersion in the mRNA levels, no progressive increase or decrease during this period of fetal life could be found, as previously observed for insulin. In keeping with these molecular data, no increase in immunostaining of the four hormones was observed, but a dispersion of endocrine cells within the exocrine tissue was noticed at 20 weeks of gestation followed by a clear differentiation of the Langerhans islets at 31 weeks. Interestingly, the mRNA levels of the four hormones were always higher in the fetal pancreas than in the adult pancreas.

Blotting, Northern↗
PubMed1998

Neonatal death in Marshall-Smith syndrome.

Marshall-Smith syndrome is characterized by accelerated skeletal maturation, failure to thrive and dysmorphic features. Since 1971, twenty cases of MSS have been reported. We describe another patient with a very early death demonstrating the clinical variability of the syndrome and the importance of systematic X rays of the skeleton for determining the causes of fetal or neonatal death.

Abnormalities, Multiple↗
PubMed1998

Prenatal ultrasonographic findings in Proteus syndrome.

Proteus syndrome, a disorder which consists of skeletal, hamartomatous and other mesodermal malformations proves to be tremendously variable. Although most of the patients show deformities at birth, the diagnosis is usually made later in life as the phenotype develops over time. We report on the case of a fetus presenting in utero, with a cystic abdominal mass and malposition of the fingers, which was found to have additional features of Proteus syndrome after termination of pregnancy. This case demonstrates that severe cases of Proteus syndrome can be detected prenatally.

Abdominal Neoplasms↗
PubMed1997

[Diagnosis of a fetal cardiac malformation. Fetal heart].

To diagnose a fetal heart abnormality is one of the most important purpose of the foetopathologic examination performed after spontaneous abortion, intrauterine death or pregnancy termination. Frequency of cardiac abnormalities in fetal or maternal pathologies explains the significance of this diagnosis in a pertinent genetic counseling before next pregnancy. The diagnose of a fetal heart abnormality requires a good knowledge of: normal anatomy and examination technics of fetal heart, congenital heart abnormalities classification and knowledge of the most common diagnosis, diagnostic orientation according to the cardiopathy: fetal origin in genic syndrome, chromosomal abnormalities, malformative or sporadic association; maternal etiology (toxic, infection, metabolic). This procedure needs experience, acquired by rigorous practice and team working.

Cardiomyopathies↗