Diagnosis Of Alobar Holoprosencephaly Research Articles

Holoprosencefalia associada a sinoftalmia e arinia em felino (Felis catus): relato de caso

The aim of this study was to describe the macroscopic and histological lesions observed in domestic newborn felines with facial lesions characterized by holoprosencephaly associated with synophthalmia and arhinia. A feline with multiple craniofacial congenital anomalies was necropsied, and the brain was collected, followed by photodocumentation and histopathological processing with H&E. The diagnosis of alobar holoprosencephaly with grade (I) morphological lesions of the face was made through the anatomopathological changes observed during the clinical and necroscopic examination, characterized by deformation of the cerebral hemispheres, shown failure in the forebrain vesicle development, located in the cranial neural tube part, associated with craniofacial dysmorphisms. In the microscopic study of the CNS, lesions characterized by abnormal lamination of the cerebral hemisphere's outermost cell layers and multiple areas of vacuolization of the cortex and in the cerebellum low cell density of the granular layer, with the presence of large intracytoplasmic vacuoles and absence of Purkinje cells were observed. It was not possible to determine the deformation cause, since laboratory tests were not performed, as well as the association with the FeLV virus.

Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

ObjectiveTo show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. Case reportA 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly. The result was normal – 46,XX. The diagnosis of alobar holoprosencephaly was confirmed at 15 weeks of gestation, and cardiac and limb defects were also identified. Thus, a syndromic cause was considered, specifically a chromosomal microdeletion syndrome or a monogenic entity such as SLOS. The latter was confirmed by measuring 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) in amniotic fluid. Molecular analysis of DHCR7 gene identified a homozygous mutation in intron 8, c.964-1G>C, providing molecular confirmation for this diagnosis. ConclusionThe differential diagnosis of holoprosencephaly is broad. Identification of the cause of holoprosencephaly aids in establishing the prognosis and is essential to ascertain the mode of inheritance for adequate genetic counseling.

1033: Contribution of 3D Ultrasound in the Diagnosis of Alobar Holoprosencephaly

1033: Contribution of 3D Ultrasound in the Diagnosis of Alobar Holoprosencephaly

Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester

Prenatal diagnosis of alobar holoprosencephaly, by use of ultrasound and magnetic resonance imaging in the second trimester

Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature

Alobar holoprosencephaly is a rare and severe brain malformation due to early arrest in brain cleavage and rotation. We report a congenital anomalous fetus with alobar holoprosencephaly, prenatally diagnosed by two-dimensional (2D) sonography at the 40 weeks of gestation. The mother was affected by gestational diabetes mellitus and was obese (BMI > 30 kg/m(2)). 2D Ultrasound depicted the cerebral malformation, cyclopy, proboscis, cardiac defects (atrial septal defect, hypoplastic left heart, anomalous communication between right ventricle and aorta) and extremities defects. The newborn died just after delivery. External examination confirmed a mobile proboscis-like nose on the normal nose position. The fetus had both claw hands. The right and left feet showed to be equine. Autopsy confirmed the ultrasound diagnosis and chromosome analysis revealed trisomy 13 (47,XY,+13). Fetopathologic examination showed cyclopy, proboscis and alobar holoprosencephaly of the fetus, which was consistent with Patau syndrome. The teratogenic effect of diabetes on fetus has been described, but no previous clinical case of a congenital anomalous fetus with trisomy 13 and maternal gestational diabetes has been reported. This case report is the first to describe 2D ultrasound diagnosis of alobar holoprosencephaly and trisomy 13 with maternal gestational diabetes mellitus.

Three-Dimensional First-Trimester Transvaginal Diagnosis of Alobar Holoprosencephaly Associated with Omphalocele in a 46,XX Fetus

A three-dimensional (3D) transvaginal diagnosis of alobar holoprosencephaly (HPE) with associated omphalocele is reported at 12 weeks, 3 days gestation. Diagnosis of HPE was based on visualization of a single holoprosencephalic cavity with absent falx and basal ganglia and omphalocele by the presence of abdominal wall defect with mid-gut herniation. Chorionic villus sampling showed a normal 46,XX karyotype. 3D volumetric reconstruction allowed a more detailed definition of the anatomic landmarks of the lesion, including visualization of a thin rim of cortical mantel within the prosencephalic cavity, the dysmorphic face with flattened nose, and the abdominal eventration that looked like an abdominal air bag on 3D volumetric reconstruction.

Prenatal Diagnosis of Alobar Holoprosencephaly Facilitated by the Combined Use of Ultrasound and Magnetic Resonance Imaging

Objective: Alobar holoprosencephaly is the most severe form of holoprosencephaly. The poor prognosis of fetuses with alobar holoprosencephaly makes early diagnosis in utero important. Herein we report on a case of alobar holoprosencephaly diagnosed in the second trimester using both ultrasound (US) and magnetic resonance imaging (MRI). Case Report(s): A pregnant 25-year-old woman underwent an abdominal US examination at 19 weeks 3 days. A detailed US examination using a 3.5-MHz transabdominal probe demonstrated a fused single ventricle, a fused thalami, a cleft lip and palate, and the absence of falx cerebri in her fetus. T2-weighted MRI further revealed the fetal body with all brain cavities outlined by segmentation. After amniocentesis and prenatal counseling, the couple chose to terminate the pregnancy. The fetus was aborted using vaginal prostaglandin. Fetal karyotype showed 46, XY. Histological examination revealed alobar holoprosencephaly with cleft lip and palate. Conclusion(s): MRI does not alter the diagnosis of alobar holoprosencephaly made solely by obstetric US, but it may provide improved visualization of fetal alobar holoprosencephaly.

Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound

The aim of this study is to evaluate the sonographic characteristics of alobar holoprosencephaly (AH) in utero. Seventeen cases were diagnosed at 16-30 weeks' gestation by two-dimensional and three-dimensional ultrasound from October 1994 to December 1998. In this series, the prenatal prevalence was 1 out of 415 and the detection rate of AH by prenatal ultrasound was 100%. Eleven cases (64.7%) had concurrent facial anomalies. Cleft lip and hypotelorism were the most common associated facial anomalies (72.7%). Two cases (11.8%) were twin pregnancy with one fetus affected. We present one of the largest series in the literature and compare it with previous reports. From this series, we concluded that: (1) intracranial findings, including monoventricle, fused thalami, and the absence of midline structures, were reliable sonographic characteristics for prenatal diagnosis; (2) cleft lip and hypotelorism seemed to be more common associated facial malformations than cyclopia or cebocephaly with AH; and (3) although three-dimensional ultrasound did not change the diagnosis of AH made by two-dimensional ultrasound in this series, three-dimensional ultrasound does assist in defining the severity and extent of AH.