Prenatal Ultrasound Diagnosis Research Articles

Robinow Syndrome as a Prenatal 5D Ultrasound Diagnosis: A Case Report in Mansoura Fetal Medicine Unit

Robinow syndrome, named after Doctor Meinhard Robinow who first reported a new type of dwarfism in 1969. Rarely, Robinow syndrome aka fetal face syndrome is genetically inherited heterogeneous disorder characterized mainly by limb shortening (mesomelia), dysmorphic facial features, and abnormal genitalia (ambiguous). This report presents depicts the antenatal ultrasound findings in a case of autosomal dominant Robinow syndrome diagnosed at 22 weeks’ gestation, for a Robinow pregnant female with history of two positive siblings. This case study demonstrates the role of the new 5D technology of ultrasound in the prenatal diagnosis correlating to postnatal findings, narrowing down the differential diagnosis.

Prenatal ultrasound diagnosis of duplication gallbladder: a multicenter study.

Gallbladder duplication is a rare anatomic anomaly characterized by the presence of an accessory gallbladder. To appraise the prevalence and significance of prenatal diagnosis of duplication of gallbladder in a multicenter study. This was a multicenter case series with literature review. Clinical records of all consecutive pregnant women with a prenatal diagnosis of duplication of gallbladder, who were referred to our Centers were included in this study. The diagnosis of duplication of gallbladder was based on the evidence of double gallbladder in the standard abdominal circumference plane using grey scale. Postnatal magnetic resonance cholangiopancreatography (MRCP) 3D and postnatal neonatal abdominal ultrasound scan were offered soon after birth to confirm the diagnosis of double gallbladder. The systematic review was conducted using electronic databases from inception of each database through December 2019. Five studies, including a total of seven cases, were identified as relevant and included in the systematic review. Gestational age at diagnosis ranged from 20 to 32weeks of gestation. Associated findings were reported in only one case, where the fetus presented with a left-sided gallbladder, and bilateral renal agenesis with Potter sequence. None of the included cases reported abnormal karyotype. Our cases series included nine cases (0.03%) of double gallbladder with postnatal confirmation, with an overall incidence of this anomaly of 0.03%.Associated findings were reported in only two cases, one with IUGR and omphalocele, that opted for I-TOP, and one with single umbilical artery. Except for the I-TOP, neonatal outcome was favorable in all cases. Duplication of the gallbladder is a very rare malformation with only seven cases reported in the literature diagnosed prenatally. This anomaly is not associated with abnormal karyotype, and the neonatal outcome is favorable if there are no other associated abnormalities.

Real possibilities of early prenatal diagnosis of coronary-right ventricular fistula

Experience of prenatal ultrasound diagnosis of coronary-right ventricular fistula at first trimester of gestation is presented

Three-Dimensional Printing of Prenatal Ultrasonographic Diagnosis of Cleft Lip and Palate: Presenting the Needed "Know-How" and Discussing Its Use in Parental Education.

Parental prenatal counseling is of paramount significance since parents often experience an emotional crisis with feelings of disappointment and helplessness. Three-dimensional (3D) printed model of the unborn child's face presenting with cleft lip and palate, based on ultrasonographic information, could be used to provide visual 3D information, further enhancing the prospective parent's comprehension of their unborn child's pathology and morphology, helping them to be psychologically prepared and improving the communication with the caretaking team. Prospective parents appreciate if prenatal counseling is available with the most detailed information as well as additional resources. The technique necessary to create 3D models after ultrasonographic information is explained, and the related costs are evaluated. The use of such models in parental education is then discussed.

Prenatal diagnosis of pericardial lymphangioma in the second trimester of gestation: case report

A case of prenatal ultrasound diagnosis of pericardial lymphangioma at 19+3 weeks of gestation is presented. Prenatal diagnosis verified on histological analysis.

Assessment of fetal ribs at first trimester of gestation

Experience of prenatal volume ultrasound diagnosis of ribs anomalies at first trimester of gestation is presented.

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

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.

Early prenatal diagnosis of total anomalous pulmonary venous connection in associated with complex cardiac anomalies and heterotaxy syndrome

The case of early prenatal ultrasound diagnosis of total anomalous pulmonary venous connection with complex cardiac anomalies and heterotaxy syndrome at 14 weeks 6 days of gestation is presented.

Prenatal diagnosis of double arterial perfusion syndrome in multiple pregnancy

The case of prenatal ultrasound diagnosis of double arterial perfusion syndrome in multiple pregnancy with two amorphous acardial fetuses is presented. The issues of prenatal diagnosis, management and surgical correction of pathology, the outcome of the observation are discussed.

Prenatal ultrasound diagnosis of congenital sodium diarrhea

A case of prenatal ultrasound diagnosis of a rare congenital malformation of the intestine: sodium diarrhea at 34 weeks of gestation is presented. The difficulties of postnatal diagnosis based on a combination of clinical and anamnestic and laboratory data and confirmed by the results of determining the level of fecal electrolytes and genetic studies of mutations in genes are discussed.

Ultrasound prenatal diagnosis of a de novo 14q distal duplication associated with foetal anomalies: a case report

Abstract Objectives Partial trisomy 14q is a rare chromosomal abnormality with an extremely variable phenotype ranging from mild to severe forms of malformation. Most of the cases described in literature are postnatal clinical findings although few prenatal cases have been reported. Case presentation A 33-year-old woman at 21+6 weeks’ gestation was referred to our hospital for a detailed foetal ultrasound with suspected partial agenesis of corpus callosum and ureterocele. On examination, we found a short corpus callosum and ureterocele with a duplicated right renal collecting system. Moreover, there was an intrarotation of left foot with a prominent part departing from the ankle, both thighs appeared thicker, a thickening of the nuchal fold, a mild hypertelorism and a thick heterogeneous placenta. The patient underwent magnetic resonance imaging (MRI), which confirmed the foetal anomalies. The couple opted for a termination of pregnancy. Chromosome analysis and molecular karyotyping of amniocytes revealed a de novo rearrangement of chromosome 14 with an interstitial gain 14q31.1–14q32.22 and a terminal deletion 14q32.33. Conclusions The majority of partial trisomy 14q reporter are postnatal diagnoses. Improvement in the quality of foetal imaging and molecular techniques have made possible to identify many genetic syndromes prenatally. In our opinion, anomalies of the brain, urinary system and limbs may be the core findings of trisomy 14q. To our knowledge, no such case has ever been described previously.

Prenatal ultrasonographic diagnosis and prognosis of fetal meconium peritonitis

Objective To investigate the maternal and neonatal outcomes of fetal meconium peritonitis (FMP) cases with different ultrasonic manifestations. Methods The clinical data of 31 pregnant women with FMP diagnosed by prenatal ultrasound and confirmed by postnatal imaging examination in Guangzhou Women and Children's Medical Center from January 2011 to December 2018 were analyzed retrospectively. According to the last prenatal ultrasonographic findings, the 31 cases were classified into the following grades: grade 0 (three cases), grade 1 (20 cases, grade 1A: nine cases, grade 1B: three cases, grade 1C: eight cases), grade 2 (seven cases) and grade 3 (one case). All neonates were also divided into two groups: the operation group (19 cases) and conservative treatment group (12 cases) based on whether or not underwent surgery. Statistical methods were independent sample t-test and Chi-square test. Results (1) The gestational ages at the first diagnosis of FMP and birth of the operation group were both lower than those of the conservative treatment group [(29.9±4.5) vs (38.2±1.0) weeks, t=-6.202; (36.2±2.7) vs (38.2± 1.0) weeks, t=-2.426; both P<0.05]. (2) The operation rates in cases of grade 0, 1, 2 and 3 groups were 0/3, 55%(11/20), 7/7 and 1/1, respectively (χ2=10.136, P=0.017). However, the operation rates in grade 1A, 1B and 1C groups were 7/9, 1/3 and 3/8, respectively (χ2=3.446, P=0.179). Conclusions The rate of operation of FMP newborn was related to the gestational age of the first prenatal ultrasound diagnosis of FMP and the ultrasonic grade. The different grades of prenatal ultrasound in FMP cases can provide important information for guiding perinatal treatment. Key words: Peritonitis; Meconium; Ultrasonography, prenatal; Fetal diseases

Challenges in the management of omphalocele in Ile-Ife, Nigeria

Introduction: The management of omphalocele poses serious challenges in developing countries with significant morbidity and mortality. We highlighted the challenges and outcomes of management in a teaching hospital. Materials and Methods: This was a retrospective review of neonates that presented with omphalocele between January 2010 and December 2019 at a tertiary hospital in Nigeria. Information on bio data of patients and their parents, the gestational age, state of the membrane, presence of concomitant congenital anomalies, and treatment outcome were obtained from the patients' case notes. Patients were stratified into three groups as follows: Group A represented intact omphalocele minor, Group B were intact omphalocele major, whereas Group C were ruptured omphalocele. Data were analyzed using descriptive and Chi-square analysis. Results: There were 20 males and 30 females with a male: female ratio of 1:1.5. Their ages ranged between a few hours and 21 days, with a median of 1 day. Thirty-five (70%) neonates presented within the 1st day of life. The mean maternal age was 31.4 ± 6.1 years. Only 14 (28%) children had one or more prenatal ultrasonography with no prenatal ultrasound diagnosis. Six children presented with a ruptured omphalocele major. Thirty-six (72%) neonates were managed conservatively. Group C had the highest mortality rate 6 (100%), compared with 6 (0%) and 23 (39.5%) in Groups A and B, respectively, (P

Variants of stomach position in different types of congenital diaphragmatic hernia in the fetus

Purpose – to present detailed description for typical variants of the stomach location in left-sided congenital diaphragmatic hernia in the fetus in relation to the main topographic landmarks of the chest and abdomen, and to determine the relationship between the position of the stomach and anatomical variants of pathology. Material and methods. Analysis of the data from 235 ultrasound examinations of 157 fetuses in patients with left-sided diaphragmatic hernia, which were referred in 2007-2020. Results. In 3 cases (1.91 %) identification of the stomach and its location was impossible. In the remaining 154 cases, the following typical variants of stomach position were identified: intra-abdominal (22.73 %), intra-thoracic medial (12.99 %) and medial oblique (4.55 %), mid-ventral (21.43%), transverse ( 16.23 %), mid-dorsal (5.19 %), retrocardiac (5.84 %), paravertebral (2.6 %), left paracostal (1.3 %), and left pseudoanatomical (7.14 %) . With the abdominal localization of the stomach there was a shift of its pyloric part down to the bladder in 74.3 %, and in 17.1 % of cases stomach position was changed for intra-thoracic. Liver herniation was registered in 14.3% of cases with intra-abdominal stomach position, in 87.5% of mid-dorsal, and in 100% of cases with central-ventral, transverse, retrocardiac, paravertebral and left paracostal position. The liver was not detected in the thorax in cases with medial stomach position, and its identification was complicated in cases with oblique medial position. Conclusions. Typical anatomical variants of the stomach and other herniated abdominal organs location in the thorax of fetuses with left-sided diaphragmatic hernia were determined. The proposed classification system of anatomical variants of left diaphragmatic hernia with an emphasis on the stomach position will allow to improve the accuracy of prenatal ultrasound diagnosis, as well as individual prediction of postnatal outcome. Key words: congenital diaphragmatic hernia, congenital malformations, liver herniation, stomach position.

Trisomy 13 mosaicism syndrome with atypical plurimalformative phenotype

Introduction: Orofacial clefts are important congenital malformations of the lip, palate, or both caused by complex genetic and environmental factors. Aims and Objectives: The present study aims to highlight the phenotypic heterogeneity of trisomy 13 mosaicism. Material and Methods: We present one clinical case of a 30-year-old, Caucasian woman who is pregnant for the first time. Techniques of work study: anamnesis, clinical examination, serological tests for Toxoplasmosis, Rubeola, CMV and Herpes, ultrasound examination at 20 weeks gestation with General Electric Echographe Voluson E10 BT18, amniocentesis, fetal chromosome analysis and genetic counseling. Results: Ultrasound examination showed a viable singleton fetus with intra-uterine growth restriction, oligohydramnios, bilateral cleft lip and cleft palate, hypoplastic nasal bone and bilateral polycystic kidneys. Amniocentesis was done, and the fetal chromosomal analysis revealed a fetus with 46, XY/47, XY,+13 mosaic karyotype. After a complex genetic counselling the parents opted, to terminate the pregnancy. The autopsy confirm the prenatal ultrasound diagnosis. Conclusion: Routine ultrasound examination during pregnancy and specific genetic testing are essential for the early prenatal detection of major structural fetal anomalies associated with rare genetic chromosome syndromes.

Prenatal ultrasound diagnosis of abdominal pregnancy of ovarian origin

In abdominal pregnancy, as a result of massive hemorrhage, fetal and maternal mortality is high. The authors present a case study in which the ovarian origin abdominal pregnancy was detected in the second trimester by sonography and confirmed during the operation and also with histology. By previously not confirmed uterus didelphic or bicornuate uterus, the obstetrician should suspect the possibility of abdominal pregnancy. Placental location on the uterus is a major positive factor of outcome for abdominal pregnancies. For the differential diagnosis of abdominal pregnancy is important to verify both ovaries.

Aortic valve stenosis and fibroelastosis of the left ventricle of the heart: prenatal ultrasound diagnosis, observation, outcome

The case of prenatal ultrasound diagnosis of aortic valve stenosis and fibroelastosis of the left ventricle of the heart is presented. The child was successfully operated after birth.

Prenatal ultrasound diagnosis of fetal pelvic tumors. II. Fetal ovarian cysts – what does really matter? Literature review

Literature review of prenatal ultrasound and MRI-diagnosis of fetal ovarian cyst is presented. Cysts evolution, ultrasound features and related risk of complications and postnatal surgical intervention are reviewed. Authors analyzed data of publications in aspects of time of diagnosis, complications and outcomes of antenatal diagnosed ovarian cysts. Antenatal and postnatal management are discussed.

The case of prenatal ultrasound diagnosis of isolate bilateral anophthalmia

The case of prenatal ultrasound diagnosis of isolate bilateral anophthalmia at 19–20 weeks of gestation is presented. The pregnancy was terminated, the diagnosis was confirmed. The incidence of this rare fetus pathology at Sverdlovsk region during last 10 years and combination with other defect and chromosome anomalies is analyzed. Possibility of early detection of eyes pathology and necessity of genetic consulting of patients with burdened familial history are discussed.

Polydactyly

Polydactyly