scholarly journals Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

2017 ◽  
Vol 19 (1) ◽  
pp. 66 ◽  
Author(s):  
Costin Berceanu ◽  
Ioana Andreea Gheonea ◽  
Simona Vlădăreanu ◽  
Monica Mihaela Cîrstoiu ◽  
Radu Vlădăreanu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Multicentre Study ◽  
Skeletal Dysplasia ◽  
Ultrasound Examination ◽  
Fetal Mri ◽  
Prenatal Ultrasound ◽  
Comprehensive Approach ◽  
Biochemical Abnormality ◽  
Fetal Medicine ◽  
Ultrasonographic Assessment

Aim: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination. Fetal MRI was accomplished for selected cases. Results: Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks. The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination. Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias. The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them. Conclusions: US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias. The details brought by the fetal MRI are useful, and the exploration is harmless for the fetus and the mother. Certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology. 

Experience of prenatal diagnosis of true knots of the umbilical cord during ultrasound examination in the third trimester of gestation

2019 ◽  
Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Ultrasound Examination ◽  
Technological Advance ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Third Trimester ◽  
The Third

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.

Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

2008 ◽  
Vol 68 (2) ◽  
pp. 214-226 ◽  
Author(s):  
Denise Pugash ◽  
Peter C. Brugger ◽  
Dieter Bettelheim ◽  
Daniela Prayer
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Mri ◽  
Prenatal Ultrasound

Prenatal diagnosis of congenital intracranial teratoma

2018 ◽  
Author(s):  
A.E. Volkov , V.V. Voloshin , O.A. Fomenko
Keyword(s):  
Prenatal Diagnosis ◽  
Histological Examination ◽  
Ultrasound Examination ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Ultrasound Scanning ◽  
Malignant Teratoma ◽  
Intracranial Teratoma ◽  
Brain Architecture ◽  
The Brain

The case of prenatal ultrasound diagnosis of congenital brain teratoma at 35 weeks 4 days of gestation is presented. At ultrasound examination no pathology was detected at 12, 21 and 31 weeks of gestation. During ultrasound scanning of the fetus at 35 weeks of gestation the following changes were revealed: the brain architecture is represented by a thinned cortex, inhomogeneous cystic solid formation, significant macrocephaly and hydrocephaly. Pregnancy is ended by сaesarean section. A liveborn fetus with significant macrocephaly is extracted. He died after 2 days after birth. The tumor is estimated as a congenital immature (malignant) teratoma of the brain accordance with histological examination.

Prenatal ultrasound diagnosis of horseshoe kidney

2018 ◽  
Author(s):  
M.V. Kubrina, E.G. Voytuk
Keyword(s):  
Magnetic Resonance Imaging ◽  
Prenatal Diagnosis ◽  
Magnetic Resonance ◽  
Ultrasound Examination ◽  
Horseshoe Kidney ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Prenatal Period ◽  
Resonance Imaging ◽  
Abdominal Organs

Three own cases of diagnosing anomalies of the relative position of the kidneys (horseshoe kidney) are presented. Two cases were diagnosed prenatally at 19+6 and 25+3 weeks of gestation, in one case no prenatal changes were identified, the diagnosis was made postnatally in the month of the child’s life. In all cases, the change was isolated. Thus, the possibility of prenatal diagnosis of a horseshoe kidney in our center was 66.7 %. In all cases the diagnosis of a horseshoe kidney was confirmed postnatally using ultrasound examination, and in one case magnetic resonance imaging of the abdominal organs was additionally performed. Prenatal ultrasound diagnosis of a horseshoe kidney was possible due to the presence of adhesion of the lower poles with the whole mass and abnormal location of the kidneys, or the detection of a characteristic large parenchymal isthmus between the lower poles, located suprapertebrally. In the case of a typical location of the kidneys and the presence of a relatively thin isthmus between the poles, the diagnosis of this anomaly in the prenatal period caused certain difficulties.

Prenatal ultrasound diagnosis of umbilical artery aneurysm with favorable outcome

2018 ◽  
Author(s):  
Yu.V. Shatokha
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Umbilical Artery ◽  
Chromosomal Abnormalities ◽  
Ultrasound Examination ◽  
Artery Aneurysm ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Colour Doppler ◽  
Single Umbilical Artery

The case of prenatal ultrasound diagnosis of single umbilical artery aneurysm is presented. During ultrasound examination at 21 weeks of gestation several anomalies in the umbilical cord were detected: the umbilical right artery was missing and dilatation of the umbilical artery with a diameter 10 mm close to fetus. With colour Doppler and pulsed Doppler was demonstrated arterial turbulent flow in the aneurysm. Prenatal diagnosis of the single umbilical artery aneurysm was made. Other fetal measurements were normal. The diameter of the aneurysm increased throughout the pregnancy till 16 mm at 33 weeks of gestation. Cesarean section was performed at 34 weeks with baby weight 2150 g. The post-delivery examination of the umbilical cord confirmed the prenatal diagnosis. No chromosomal abnormalities were found. After six months the baby is alive and well.

scholarly journals A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Tadatsugu Kinjo ◽  
Keiko Mekaru ◽  
Miyuki Nakada ◽  
Hayase Nitta ◽  
Hitoshi Masamoto ◽  
...  
Keyword(s):  
Body Weight ◽  
Prenatal Diagnosis ◽  
Ultrasound Examination ◽  
Fetal Mri ◽  
Rare Condition ◽  
Japanese Woman ◽  
Cornelia De Lange Syndrome ◽  
Intrauterine Fetal Death ◽  
Old Japanese ◽  
Cornelia De Lange

We report a case of Cornelia de Lange syndrome (CdLS) where prenatal diagnosis was not made even with major anomaly. A 33-year-old Japanese woman was referred to our institution at 23 weeks of gestation because of fetal forearm defect. Ultrasound examination revealed short forearms and short humeri and femurs (–2.1 SD). The fetal estimated body weight was 450 g (–1.3 SD). Fetal MRI at 26 weeks of gestation revealed short forearms and hypoplasty of hand fingers. Fetal growth restriction became evident thereafter, leading to intrauterine fetal death occurring at 29 weeks of gestation. A stillbirth baby was of 798 g in body weight and 33.0 cm in length. External examination showed a low hairline, synophrys, low-set ear, hypertrichosis, and smooth long philtrum with thin lips. The neck appeared short and broad. Finally, CdLS was diagnosed. The prenatal diagnosis might be possible as the arm findings were totally characteristic in a small fetus, regardless of whether an overhanging upper lip was identified. Because CdLS is a rare condition, it is important to consider its possibility as a part of differential diagnosis.

scholarly journals Prenatal Diagnosis of Corpus Callosum Agenesis in Four Fetuses

2020 ◽  
Author(s):  
Jiao Zheng ◽  
Tingting Song ◽  
Jia Li ◽  
Ying Xu ◽  
Pengfei Liu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Chromosomal Abnormalities ◽  
Ultrasound Examination ◽  
Prenatal Ultrasound ◽  
Chromosomal Microarray ◽  
Case Presentation ◽  
Corpus Callosum Agenesis ◽  
Main Pathway ◽  
Chromosome Microarray

Abstract Background: The corpus callosum is the main pathway connect the interhemispheric communication. Corpus callosum agenesis from asymptomatic to mild or severe neurodevelopmental disorders. However, few cases have been previously reported in the literature on prenatal diagnosis between corpus callosum agenesis and chromosomes abnormality. The study included prenatal diagnosis of 4 fetuses in whom prenatal ultrasound showed corpus callosum abnormality, isolated or associated with other central nervous lesions.Case presentation: Prenatal diagnoses of four children were summarized in our case. The routine prenatal ultrasound examination showed abnormal morphology of corpus callosum in fetus 1, dysplasia of the corpus callosum in fetus 3, the corpus callosum absence in fetus 2 and fetus 4, and fetus 4 also had cardiac abnormalities. Chromosomal microarray and G-band karyotype analysis were performed to provide genetic analysis of amniotic fluid. The results revealed 4.8M deletion at 1p36.33p36.31 in fetus 1, 3.1M deletion at Xq26.3q27.1 in fetus 2, 6.5M deletion at distal 1q43q44 and a duplication of 8.8M at 7q36.1q36.3 in fetus 3, fetus 4 had a deletion of 9.51M at 1p36.33p36.22 and 14.3M duplication at 6q25.3q27.Conclusion: The genetic mechanism of corpus callosum agenesis is variably complex, and its clinical phenotype may occur either alone or in association with other abnormalities. This study revealed the microabnormalities of multiple chromosomes are related to the corpus callosum abnormality. Combined with ultrasound examination, the application of chromosome microarray analysis will effectively improve the diagnosis of congenital submicroscopic chromosomal abnormalities in fetuses.

Prenatal ultrasound diagnosis of gallbladder duplication: report of 6 cases

2017 ◽  
Author(s):  
M.V. Medvedev, M.V. Kubrina, Y.G. Voytuk et all
Keyword(s):  
Prenatal Diagnosis ◽  
Retrospective Analysis ◽  
Gestational Age ◽  
Ultrasound Examination ◽  
Fetal Liver ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Gallbladder Duplication ◽  
The Right

A retrospective analysis of 6 cases of prenatal diagnosed of gallbladder duplication is presented. The average gestational age at prenatal diagnosis was 25,6 weeks (range 19–36 weeks) of gestation. In all cases two fluidcontaining cystic structures in the right upper quadrant of a fetus were found during ultrasound examination. These structures were saccular in morphology and located adjacent to the fetal liver.

scholarly journals PARTIAL CONGENITAL BOWEL OBSTRUCTION BY DUODENAL ATRESIA WINDSOCKS TYPE: CASE REPORT

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
M. Molinaro ◽  
F. Mariscoli ◽  
M. Sica ◽  
E. Bindi ◽  
R. Angotti ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Surgical Treatment ◽  
Bowel Obstruction ◽  
Fetal Mri ◽  
Rare Condition ◽  
Duodenal Atresia ◽  
Prenatal Ultrasound ◽  
Double Bubble ◽  
Degree Of Certainty

<strong>Introduction</strong> Duodenal atresia Windsocks type is a rare condition of congenital bowel obstruction. Thanks to recent technological advancements of prenatal diagnosis it is possible to make a diagnosis of duodenal atresia with high degree of certainty through the radiological sign of “double bubble”, but up to date it is not yet possible to identify the type of duodenal atresia. We report the case of a patient with prenatal diagnosis of “double bubble”. The patient had no other concomitant malformations. <br /><strong>Case Report</strong> The patient came to our attention after prenatal ultrasound that showed a picture of double bubble. At the 27th week of gestation we performed fetal MRI that confirmed the US pattern of double bubble but it did not identify with certainty the type of duodenal atresia. At birth the patient underwent GI rx examination that showed a picture of partial duodenal obstruction compatible with the Windsocks type. On the following day, we performed endoscopy which showed the presence of duodenal membrane, so the patient underwent surgical treatment with a longitudinal duodenal incision in order to treat the wind-sock membrane. After one month a further Upper-GI rx examination showed a regular transit of the contrast. Four months after the first operation the patient underwent new surgical treatment for bowel obstruction by adhesions. The operation was successful and the patient had a complete recover.<br /><strong>Conclusions</strong> Patients with prenatal diagnosis of “double bubble” require a multidisciplinary approach for proper clinical management. Unfortunately it is not currently possible to identify with certainty by prenatal ultrasound the type of duodenal atresia, but in case of incomplete bowel occlusion , the possibility of an atresia Windsocks type should always be considered, especially for setting the right surgical approach.

scholarly journals P20.01: Fetal MRI as an adjunct to ultrasound examination in selected cases: a UK tertiary fetal medicine unit experience

2010 ◽  
Vol 36 (S1) ◽  
pp. 247-248
Author(s):  
U. Agarwal ◽  
L. Bricker ◽  
G. Mann ◽  
M. Tawil ◽  
S. Burn
Keyword(s):  
Ultrasound Examination ◽  
Fetal Mri ◽  
Fetal Medicine
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