1/43. First-trimester ultrasound diagnosis of holoprosencephaly: three case reports.We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/43. prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation.Alobar holoprosencephaly is an intracranial abnormality characterized by failure of proper cleavage of the prosencephalon, accompanied by incomplete midfacial development. The prenatal sonographic diagnosis of alobar holoprosencephaly was first described in 1984; however, there have been only two reports of alobar holoprosencephaly diagnosed in the first trimester. We report a case of alobar holoprosencephaly diagnosed at 10 weeks of gestation.- - - - - - - - - - ranking = 5keywords = gestation (Clic here for more details about this article) |
3/43. prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.We report the prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p trisomy (3p23-->pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of partial trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face.- - - - - - - - - - ranking = 1.0888113531337keywords = gestation, pregnancy (Clic here for more details about this article) |
4/43. Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy.A case of alobar holoprosencephaly diagnosed at 10 3 weeks' gestation by transabdominal and transvaginal ultrasound examination followed by histological confirmation is presented. The diagnosis was based on two sonographic criteria: intracranial finding of a single ventricle with a mantle and no visible midline structures but fusion of the thalami and corpus striatum, and facial abnormalities, including hypotelorism and proboscis. The fetal karyotype was triploidy. The ultrasound findings were confirmed by pathological examination. The histological findings of proboscis, single lens and single ventricle with neural tissue remnants are presented.- - - - - - - - - - ranking = 1.3552454125348keywords = gestation, pregnancy (Clic here for more details about this article) |
5/43. Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. At 15 months of age psychomotor development is severely impaired, birth and length are delayed.- - - - - - - - - - ranking = 0.088811353133701keywords = pregnancy (Clic here for more details about this article) |
6/43. Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.A fetus with lobar holoprosencephaly and lumbosacral meningomyelocele associated with duplication of the short arm of chromosome 3 is reported. The anomalies were detected on fetal ultrasound at 20 weeks' gestation and the autopsy findings correlated well with the prenatal findings. The fetal karyotype was 46,XY,der(3)del(3)(p26) dup(3)(p26p21.3). The association of holoprosencephaly with duplication 3p is well known, but to the best of our knowledge this is the first reported association of meningomyelocele with 3p duplication. These findings suggest that a gene or genes with a crucial role in central nervous system development are located on the short arm of chromosome 3.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
7/43. Alobar holoprosencephaly at 9 weeks gestational age visualized by two- and three-dimensional ultrasound.We present the ultrasound detection of alobar holoprosencephaly (HPE) with cyclopia in an embryo of 9 weeks 2 days last menstrual period (LMP)-based gestational age; the crown-rump length (CRL) was 22 mm. The use of three-dimensional (3-D) ultrasound made additional diagnostic ultrasound tomograms possible, and the volume reconstructions improved the imaging and the understanding of the condition.- - - - - - - - - - ranking = 5keywords = gestation (Clic here for more details about this article) |
8/43. holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency..We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an adjacent-1 segregation of a t(2;7)pat. The chromosomal abnormality was diagnosed prenatally after sonographic detection of HPE in the fetus. The baby was born at 37 weeks gestation, and died in the newborn period; he had dysmorphic features consistent with HPE sequence. Postmortem internal evaluation showed semilobar HPE, abdominal situs ambiguus, multiple segments of bowel atresia, dilatation of the ureters, and bony sacral anomalies. Molecular analysis confirmed hemizygosity for the SHH and HLXB9 genes, which are likely to be responsible for the HPE and sacral phenotypes, respectively. Immunohistochemical studies showed intact dopaminergic pathways in the mesencephalon, suggesting that midbrain dopamine neuron induction appears to require only one functioning SHH allele.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
9/43. prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat.Alobar holoprosencephaly (HPE) was identified by ultrasonography at 18 weeks' gestation in a fetus of a 29-year-old G2P0A1 woman. HPE has been described in association with various chromosomal anomalies. amniocentesis was performed and a rearrangement of chromosome 18 resembling an isochromosome for the long arm of chromosome 18 was found. Subsequently, the mother was found to have a pericentric inversion of chromosome 18 with breakpoints at p11.31 and q11.2. The karyotype of the fetus was re-interpreted as 46,XX, rec(18)dup(18q)inv(18)(p11.31q11.2)mat. This is the first case of a parental inversion leading to a deficiency of 18p11.31 to 18pter associated with HPE.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
10/43. prenatal diagnosis of agnathia-holoprosencephaly: three-dimensional imaging by helical computed tomography.We report a case of agnathia-holoprosencephaly which was prenatally diagnosed based on helical computed tomography (CT) images obtained at 23 weeks of gestation. Ultrasound examination first showed the presence of alobar holoprosencephaly, but the facial structures were not clearly detailed. However, three-dimensional imaging by helical CT precisely demonstrated the most striking feature of agnathia: absence of the mandible. This technique provided us valuable information that contributed to the in utero diagnosis. In utero helical CT is a useful examination tool for the diagnosis of osteogenic abnormalities.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
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