Donnai‐Barrow syndrome: Four additional patients Chassaing, Nicolas; Lacombe, Didier; Carles, Dominique ...
American journal of medical genetics. Part A,
1 September 2003, Volume:
121A, Issue:
3
Journal Article
Cytomegalovirus is the most common cause of congenital viral infection. In utero this infection is usually suspected on the basis of ultrasound findings. We present a case in which routine ultrasound ...examination demonstrated a decrease in fetal cephalic dimensions at 32 weeks' gestation in an asymptomatic patient. Transvaginal ultrasound revealed echogenic vessels in the thalami and lesions in the subependymal region. Suspected diagnosis of fetal cytomegalovirus infection was confirmed by positive titers of anti-cytomegalovirus-IgM antibodies in fetal blood and amniotic-fluid PCR studies. Fetal cerebral MRI demonstrated parenchymal atrophy and polymicrogyria. The parents decided to terminate the pregnancy, and necropsy confirmed the diagnosis. Suspicion of CMV fetal infection should prompt transvaginal ultrasound and fetal brain MRI.
Schizencephaly is a neuronal migration anomaly characterized by gray matter lined clefts extending from the ventricle to the cortical surface leading to specific lesions, well demonstrated by ...imaging. The lips of the clefts can be fused or separated. Prognosis is related to the extend of the involved cortex. Both genetic and acquired factors can be responsible for this pathology. Three cases of antenatal diagnosed open schizencephaly are reported. Two cases are unilateral and one is bilateral. A cerebral anomaly has been detected in all cases by routine ultrasonography (US) revealing a ventricular dilatation with cortical associated abnormalities. Prenatal magnetic resonance imaging (MRI) permitted the diagnosis in the 3 cases. All cases had led to abortion because of the importance of the cortical defect. The aim of this report is to point out the importance of fetal MRI in the diagnosis of migration disorder and to discuss the medical implications. Indeed, MRI is better suited than US for the prenatal diagnosis of schizencephaly, being able to detect normal and abnormal brain cellular migration, especially with fast imaging (HASTE sequences). With its multiplanar imaging capability, MRI demonstrates the cleft extending from the pial surface to the ventricular ependyma and thus provides characteristic diagnosis of this disorder. Moreover, ventricular dilatation, a frequent anomaly detected by US should be completed with MRI in order to research a neuronal migration disorder.
The objective of this works to determine the frequency and nature of malformations detected by pathological study of aborted and stillborn third-trimester fetuses. The data were extracted from the ...files of the fetoplacental unit of Bordeaux University Hospital between January 2000 and December 2003. The study focused on fetuses with a gestational age corresponding to the third trimester (27 weeks to term). Death resulted from either induced abortion (IA) or spontaneous intrauterine death (IUD). A total of 1963 fetopathological examinations were performed during the study period, of which 524 involved third-trimester fetuses (109 IA, 49 IUD). The 109 IA represented nearly 15% of all abortions performed for medical reasons during the study period. The mean gestational age was 31.2 weeks in the IA group and 34.3 weeks in the IUD group (p < 1 per thousand). The abnormalities most frequently observed in the IA group consisted of neurological disorders (34 cases), cardiovascular disorders (26 cases), genetic syndromes (20 cases) and chromosomal aberrations (18 cases). In the IUDm group there were 20 minor malformations and 29 major malformations. The latter included 7 cardiac malformations, 7 central nervous system disorders, and 5 syndromes (Di George, n=3 ; Down's, n=2). The disorders indicating IA vere detected during the third trimester in 94 cases, and earlier in the other 15 cases. Despite the retrospective nature of this study, the results show that a significant number of major congenital malformations are only detected in the third trimester, by sonographic examination. This is compatible with the high frequency of major congenital malformations discovered at post mortem examination of third-trimester stillbirths.
Smith-Lemli-Opitz syndrome Pelluard-Nehmé, Fanny; Carles, Dominique; Alberti, Eve Marie ...
Annales de pathologie
25, Issue:
4
Journal Article
Peer reviewed
SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic ...pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third toe, postaxial polydactyly and genital anomalies with sexual ambiguity. We report a fetal case with intrauterine growth retardation, genital anomalies, multiple malformations with cardiac anomalies, renal aplasia and facial anomalies detected by prenatal ultrasound. Medical abortion was induced at 24 weeks gestation. The diagnosis was considered after complete pathologic examination and biochemical analysis.
