Correlations between Ultrasound and Pathology in Fetal Ventricular System Anomalies

A total of 113 cases of fetal hydrocephalus with a lethal outcome (FHLO) from the Embryo-Fetopathologic Clinic at the Center for Maternity and Neonatology, Tunis, Tunisia and Obstetrics and Gynecology Clinic at St. George EAD University Hospital, Plovdiv, Bulgaria were studied, 86 of which had syndrome malformations: neural tube defects (NTDs)—29.2%, chromosomal abnormalities—23.9%, skeletal dysplasias—9.8%, VACTERL association—5.3%, Dandy-Walker malformation—3.4%, Other—14.2%. Risk factors for FHLO are miscarriages (odds ratio (OR): 19.500; confidence interval (CI): 4.020-94.594), stillbirths (OR: 10.897; CI: 1.169-10.564) and previous birth of a malformative child (OR = 5.385; CI: 1.385–18.896). FHLO is significantly associated with a maternal age over 40 years and third degree consanguinity of the fetus (OR = 18.500; CI: 1.146–298.547). The trisomies in our study were 27 (23.9%) and are significantly associated with an age above 38 years and FHLO (OR = 13.689; CI: 3.952–52.122). In medical abortion, stillbirth, or neonatal death, a fetopathological study enriches our knowledge of malformations, complements and completes the ultrasound examination, modifies genetic counseling, and determines the medical behavior in subsequent pregnancies. Also, associated risk factors and fetopathological changes in FHLO must be studied to increase the ultrasound prenatal diagnosis success

Concomitant combined degenerative compression of the spinal cord and cauda Equina: A report on three cases

We report on three cases with concomitant combined degenerative compression of the spinal cord and cauda equina which were diagnosed and operated in a single stage. The first case presents left-sided paramedian disc herniations at L1-2 and L4-5 levels, combined with concurrent degenerative spinal stenosis. The second case includes right-sided paramedian disc herniation at Th12-L1 level in combination with severe degenerative lumbar spinal stenosis at L3-4 level. The third case describes advanced degenerative compression at Th7-8 level with concurrent central spinal stenosis at L4-5 level.We have discussed the clinical presentation of concurrent combined symptomatic degenerative compression of the spinal cord and cauda equinа which can deceive the physician and lead to omitted diagnosis of the thoracic compression.In an attempt to avoid misdiagnosis of thoracic degenerative compression, it is necessary to perform thorough neurological examination of the spinal cord motor and sensory functions. In addition, further MRI examination of upper spinal segments is needed, if previous studies of the lumbar spine fail to provide reasonable explanation for the existing neurological symptoms

Partial Hydatidiform Mole Complicated by Multinodular Goiter. A Case from Bulgaria

Partial mole occurs when an egg is fertilized by two spermatozoids or by one spermatozoid which reduplicates itself yielding most commonly triploid genotype of 69,XXY. We present a case of a partial hydatidiform mole associated with multinodular goiter. The patient is a 27-year-old primigravida who presented for termination of non-viable pregnancy at 11 weeks gestation. Her ultrasound examination showed lack of growth and presence of degenerative changes. Thyroid gland ultrasound scan revealed multinodular goiter. Flow cytometry analysis showed triploid pick index of 1.46 which confirmed the triploid karyotype (69, ???) detected by genetic studies. Partial hydatidiform mole could be a risk factor for the occurrence of nodular goiter and even hyperthyroidism as the underlying hormonal imbalance triggers pathogenetic mechanisms of the thyroid dysfunction

Complete Spinal Dysraphisms: Rachischisis , Craniorachischisis , Iniencephaly

Introduction : World statistics show that neural tube defects (NTDs) rank foremost among congenital malformations. In 2002, the first gene of craniorachischisis was found - the Vangl 2 gene. It was found by a cloning loop - tail (LT) gene for the defective closure of the neural tube.Objective : To epidemiologically characterize the complete spinal dysraphisms: rachishisis, craniorachishisis and iniencephaly.Materials and Methods : Thirty-three fetuses with complete spinal dysraphisms were examined during the period 2006-2009 at the Center for Maternity and Neonatology - Tunisia. The fetuses were the result of pregnancy terminations for medical reasons, intrauterine fetal death, and spontaneous abortions. Results : Ten (30.3%), eleven (33.3%) and twelve (36.4%) of the fetuses were respectively carriers of rachischisis, craniorachischisis and iniencephaly. Almost half of the fetuses were from first pregnancy mothers. The deviation in the amount of amniotic fluid (oligoamnios) is an important endogenous risk factor. Exogenous risk factors are the time of conception (seasons) and endemic areas. Consanguinity is also a positive risk factor in 23% of fetuses with complete spinal dysraphisms. A mother`s blood type A+ is the most common for the group (46.2%).Conclusion : Preceding births of fetuses with complete spinal dysraphisms should motivate obstetricians to explore with caution each following pregnancy. The diagnosis of complete spinal dysraphisms is possible by biochemical tests, ultrasound (12, 22 weeks), MRI and genetic testing. Evidence of a malformation should be followed by the termination of the pregnancy

Importancia de la autopsia fetal en casos de abortos espontáneos.

Objetivos: Subrayar la necesidad y la importancia de las investigaciones fetopatológicas en casos de abortos espontáneos.Material y métodología: En Bulgaria y Vietnam se ha llevado a cabo la investigación fetopatológica de dos fetos obtenidos en casos de abortos espontáneos entre la decimonona y la vigésimoprimera semana de gestación. Se ha aplicado la autopsia clásica de fetos, conservados a base de disolución de formaldehído en agua en una proporción de 40% en peso, acompañada por examen externo, análisis biométrico y disección in situ. Se ha obtenido material fotográfico de los hallazgos patológicos y material para el examen microscópico.Resultados: En el primer feto la malformación se ha diagnosticadf como un caso de cranio-rachischisis totalis, asociada con anomalías faciales, anomalías de las extremidades, anomalías del aparato excretor, el aparato reprodutor y el sistema digestivo. En el segundo feto se ha diagnosticado anencefalia (acrania) asociada con anomalías faciales, anomalías de las extremidades y de los órganos internos.Discusión: En ambos casos se han descubierto defectos del tubo neural (DTN) relacionados con las grandes anomalías, incompatibles con la vida, que tienen una frecuencia de entre 0.5 a 6 casos en cada 1000 partos. La presente investigación comprueba que el aborto espontáneo y las causas que lo provocan no han de ser menospreciados. El estudio pone énfasis en la importancia de la autopsia en la medicina fetal y su inapreciable valor para la perspectiva del próximo embaraz

Cephalic dysraphisms - encephalocele and exencephaly

Encephalocele and exencephaly are congenital malformations of the central nervous system with a frequency in Europe of 2.3/1000 births for the period 2003-2007.Purpose : To examine the macroscopic and microscopic characteristics of the malformations encephalocele and exencephaly and the associated abnormalities of the internal organs in autopsies of fetuses with neural tube defects (NTD).Materials and methods : Twenty-four fetuses with encephalocele and exencephaly were examined during a period of three years (2006-2009) in the Clinic of Fetopathology at the Center for Maternity and Neonatology - Tunisia. The fetuses were the result of interrupted pregnancies due to medical reasons, intrauterine fetal death, spontaneous abortions and neonatal death.Results : The most common encephalocele was the occipital - 25.0%, followed by the parietal - 4.17%. Exencephaly was found in 12.50% of the studied cases. Associated gastrointestinal anomalies are anomalies of the mesentery, hepatosplenomegaly, polysplenia, a supplemental spleen, and hepatomegaly. Associated anomalies of the urinary system are tubular bladder, polycystic kidney and abnormalities in the shape and position of the kidney. The respiratory system anomalies are represented by hypoplasia, improper lung lobulation, and situs inversus. The anomalies of the abdominal wall ware severe: agenesis of the diaphragmal dome and agenesis of the umbilical artery (4.2%, 8.3%). The genetic study found a karyotype of triploidy (69, XXX) for 4.2% of the fetuses.Conclusion : The sonographic examination should be a careful inspection of all systems and organs of the fetus and the amniotic fluid. In complicated cases of fetuses with encephalocele and exencephaly genetic counseling is imperative

TANDEM COMPRESSION OF MEDULLA SPINALIS AND CAUDA AEQUINA

Objective: To analyze and present cases of tandem compression of medulla spinalis and cauda equina. Material and Methods: The subjects of observation were four patients with simultaneous compression of medulla spinalis and cauda equina, admitted to the Neurosurgery Clinic of the St George University Hospital, Plovdiv, Bulgaria during the period March 2012 — March 2014. The average age of the patients was 60.5 years (47–72). In one case, left-sided paramedian herniated discs were found at levels L1–2 and L4–5 combined with a concomitant stenosis, in another case — right-sided paramedian herniated discs on the level of Th12 — L1 and a degenerative stenosis at level of L3–4, in the third case — pronounced degenerative compression at level Th7–8 and a central stenosis at level of L4–5, and in the last case — degenerative stenosis at level L3–5 and spinal meningioma at level Th9–10. Results: The clinical signs of the simultaneous compression of the spinal cord and cauda equina have been examined. These signs may mislead the physician in the diagnosis of the spinal lesion, thus, resulting in inappropriate surgical strategy. Conclusion: The involvement of the spinal cord must be clinically confirmed to rule out lesions in the thoracic region. When the lumbar imaging examinations are inconclusive or cannot explain the clinical symptoms of a certain patient, it is advisable to perform a magnetic resonance imaging of the entire spi