Thanatophoric dysplasia: possibilities of prenatal ultrasound diagnosis. Part 2. Temporal lobe dysplasia

2017 ◽  
Author(s):  
M.A. Esetov , A.M. Esetov , G.M. Bekeladze
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Temporal Lobe ◽  
Skeletal Dysplasia ◽  
Common Type ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
Lethal Skeletal Dysplasia

Thanatophoric dysplasia (TD) is the most common type of lethal skeletal dysplasia. Differential diagnosis of TD (type I) is not always possible. In recent years, the possibility of ultrasound diagnosis of fetal temporal lobe dysplasia (TLD) as a sign of TD verification. Echographic diagnosis of TLD and ultrasound signs of abnormal sulcations in 3 fetuses with lethal signs of dysplasia at 20–24 weeks of gestation are presented. Issues ability of prenatal diagnosis of temporal lobe dysplasia are discussed.

The case of prenatal diagnosis of pilonidal cyst

2019 ◽  
Author(s):  
V.V. Ezhova
Keyword(s):  
Prenatal Diagnosis ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Pilonidal Cyst

The case of prenatal ultrasound diagnosis of pilonidal cyst at 25 weeks of gestation is presented. The diagnosis was confirmed after birth.

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.

The case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot in the second trimester of gestation

2020 ◽  
Author(s):  
I.N. Daminov
Keyword(s):  
Ultrasound Examination ◽  
Lower Extremities ◽  
Lower Leg ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Type I ◽  
Second Trimester ◽  
Prenatal Counseling ◽  
External Examination ◽  
Fibular Hemimelia

A case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot at 22 weeks of gestation is presented. Ultrasound examination at 22 weeks of gestation revealed hypoplasia of the left fibula and the foot oligodactyly. After prenatal counseling, the patient opted for termination of pregnancy. During external examination of the abortus asymmetry of the lower extremities due to shortening of the left lower leg and oligodactyly of the left foot were noted, those confirmed prenatal ultrasound data.

scholarly journals Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lara Pemberton ◽  
Robert Barker ◽  
Anna Cockell ◽  
Vijaya Ramachandran ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Genetic Disorder ◽  
Specific Gene ◽  
Ultrasound Images ◽  
Whole Exome ◽  
Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

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.

Сhorionic bump: analysis of 16 cases and literature review

2018 ◽  
Author(s):  
N.A. Altynnik, M.V. Medvedev, Å.G. Voytuk
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Literature Review ◽  
Risk Group ◽  
First Trimester ◽  
High Risk Group ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Threatened Miscarriage ◽  
Dynamic Ultrasound

Sixteen cases of prenatal ultrasound diagnosis of chorionic bump at 6–29 weeks of gestation, as well as an analysis of the literature covering 97 cases of prenatal diagnosis of chorionic bump is presented. All cases of chorionic bump was isolated. In 14 (87.5 %) cases the outcome of pregnancy was favourable, in 2 (12.5 %) cases were poor outcome. Сhorionic bump on first-trimester sonography is not necessarily associated with a guarded prognosis, but it condition is recommended to assign the patient to the high-risk group of a threatened miscarriage and ensure careful dynamic ultrasound observation.

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