Characterizing the 'Pseudo-Septum' in Fetal MRI: Diagnostic Implications for Septal Agenesis | Chapter 5 | Medical Science: Trends and Innovations Vol. 5

Background: Septal agenesis (SA), which involves the partial or complete absence of the septum pellucidum, is a rare congenital anomaly, with a prevalence of approximately 2-3 per 100,000 live births. This anomaly can occur in isolation or as part of complex congenital malformations such as septo-optic dysplasia (SOD), holoprosencephaly, or corpus callosum agenesis. SA and the "pseudo-septum" phenomenon are rare midline abnormalities identified in fetal MRI, often posing diagnostic challenges. Accurate differentiation between true SA and pseudo-septum is critical for prenatal counseling and management. This study aims to characterize the imaging features of true SA and pseudo-septum in fetal MRI and analyze their association with other central nervous system (CNS) anomalies and postnatal outcomes.

Methods: A total of 79 fetuses with suspected midline anomalies underwent detailed MRI assessments at a tertiary care center in India. The presence of true SA and pseudo-septum was evaluated, along with associated findings like ventriculomegaly and corpus callosum agenesis. Diagnostic accuracy metrics for MRI were calculated using histopathological and clinical follow-up as gold standards. Statistical comparisons were performed to analyze associations between SA, pseudo-septum, and neurodevelopmental outcomes.

Results: True SA was confirmed in 29 cases (36.7%), while 21 cases (26.6%) were identified as pseudo-septum. Ventriculomegaly was more frequent in pseudo-septum cases compared to true SA (66.7% vs. 31.0%, OR: 4.2, p=0.004). The sensitivity and specificity of MRI for diagnosing SA were 81.0% and 69.2%, respectively, with an overall accuracy of 77.2%. Postnatal outcomes showed a trend toward higher rates of neurodevelopmental delay in true SA cases (31.0% vs. 9.5%, p=0.051), although this did not reach statistical significance.

Conclusion: This study highlights the diagnostic challenges posed by the pseudo-septum phenomenon in differentiating true SA. While fetal MRI remains a reliable tool, the presence of pseudo-septum and ventriculomegaly requires careful interpretation to avoid misdiagnosis. Enhanced imaging protocols and further research into the long-term outcomes of these conditions are essential to improve prenatal care and clinical management in resource-limited settings. Overall, these insights are essential for refining prenatal diagnostic strategies and improving the clinical management of fetal CNS anomalies.

 

Author (s) Details

 

Bhavya Kataria
Department of Radiodiagnosis, Anchal Health Care, Ghaziabad, Uttar Pradesh, India and Department of Radiodiagnosis, Atal Bihari Vajpayee Institute of Medical Sciences, Dr. Ram Manohar Lohia Hospital, D-12 Tower 1 Type 4 East Kidwai Nagar, New Delhi 110023, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/msti/v5/3988

A Case Report on Prenatally Diagnosed Congenital Agenesis of the Gallbladder: Diagnosis and Treatment Efficacy | Chapter 5 | Current Progress in Medicine and Medical Research Vol. 4

 This episode reports a case of gallbladder agenesis that was diagnosed in a male baby in the intrauterine period at 26+3 weeks on fetal ultrasonography (USG). This case report will help to manage cases who have no gallbladder. Congenital agenesis of the gallbladder is a rare deformity of the biliary system. The plant structure of the development of gallbladder agenesis is not completely known; deformity during rudimentary development is deliberate its main cause. Although gallbladder agenesis discovered in adults during medical procedure has been stated many times, prenatally recognized gallbladder agenesis has rarely happened reported. In most cases, the gallbladder is visualized on a effect USG performed prenatally or subsequently birth, even if the gallbladder is not visualized once all along prenatal USG. However, the gallbladder of our patient was not visualized in the USG following in position or time birth either. Therefore, a hepatobiliary leaf through and magnetic reverberation cholangiopancreatography (MRCP) were performed to find the gallbladder; nevertheless, the gallbladder was not detected.

Author(s) Details:

Jeong-Suk Kim,

Department of Surgery, Keimyung University Dongsan Medical Center, Daegu, South Korea.

Hee-Jung Lee,

Department of Radiology, Keimyung University School of Medicine, Daegu, South Korea.

Eun-Jung Koo,

Division of Pediatric Surgery, Department of Surgery, Keimyung University School of Medicine, Daegu, South Korea.

Please see the link here: https://stm.bookpi.org/CPMMR-V4/article/view/11320

Using of PCR Technique for Prenatal Diagnosis of Sickle Cell Disease | Chapter 12 | Research Developments in Medicine and Medical Science Vol. 10

 In present study, fetal diagnostic ease for couples carrying sickle container gene was settled with the aim for fear that birth of affected blastula and to calculate the nervousness of ARMS-PCR by comparing results accompanying baby’s Hemoglobin pattern on follow up HPLC. Sickle cell ailment (SCD) is common in Central India and causes important morbidity and mortality. There is a shortage of prenatal demonstrative facilities close by physically to the SCD population. This is a pilot study in our domain with the aim of establishing a fetal diagnostic facility in Central India for couples accomplishing the sickle container gene in consideration of help them make an cognizant decision about a foetus stirred with SCD, in addition to calculating the sensitivity of the polymerase vicious circle (PCR) technique in our arrangement with follow-up souped up liquid chromatography (HPLC) of the baby's blood sample. Follow-up HPLC was accomplished to detect baby’s Hb pattern. Prenatal disease of sickle cell blood deficiency was offered in total 37 cases exhausted which individual (2.7%) fetal sample was inadequate. Total 26 (70.27%) fetuses had AS Hb genotype, 3 (8.11%) had AA Hb genotype and 3 (8.11%) had SS Hb genotype while surplus 4 (10.81%) were given AA/AS Hb genotype. All couples accompanying SS fetuses opted for MTP. Follow up HPLC was acted in 24 cases, out of which 18 (75%) were compared and 6 (25%) were mismatched. In present study sympathy of ARMS-PCR was 75%. ARMS-PCR is a simple method to be established originally for providing rapid fetal diagnosis to the couples with famous sickle container mutation. The subtlety of ARMS-PCR can be increased by utilizing suitable methods to detect motherly cell DNA on society can so be reduced by sensitising couples accompanying the sickle container gene through proper historical counselling and providing the alternative of Medical Termination of Pregnancy for affected foetuses. More couples will benefit from now on if we raise awareness about the safety and efficiency of modern fetal diagnostic techniques.

Author(s) Details:

Praneeta J. Singh,
Department of Pathology, Indira Gandhi Government Medical College, Nagpur, India.

A. C. Shrivastava,
Department of Pathology, Indira Gandhi Government Medical College, Nagpur, India.

A. V. Shrikhande,
Department of Pathology, Indira Gandhi Government Medical College, Nagpur, India.

Please see the link here: https://stm.bookpi.org/RDMMS-V10/article/view/10683

Study about 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4 | Chapter 06 | New Horizons in Medicine and Medical Research Vol. 9

 Prenatal diagnostics can reveal ring chromosomes, which are rare abnormalities. In ring chromosomal pathology of the 4th chromosomes, deletion in the distal area of 4p and 4q was common, and terminal deletion in the 4p frequently included the Wolf–Hirschhorn Syndrome (WHS) essential region. The goal of this work was to investigate using modern molecular techniques the aberrant phenotypes of a prenatal diagnostic case with ring chromosome 4 in chromosomal analysis. A 23-year-old woman (gravida 1, para 0) was referred for amniocynthesis in the 16th week of her second pregnancy after receiving an abnormal maternal serum screening result. Out ring chromosome 4 was discovered through cytogenetic study of cultured amniotic fluid cells. Both the mother's and father's karyotypes were normal. In situ fluorescence hybridization (FISH) both the 4p and 4q arms of ring chromosome 4 showed terminal deletion. However, further FISH studies demonstrated no loss in the WHS critical location of both normal and ring chromosome 4 in both normal and ring chromosome 4. Array-CGH validated our findings, revealing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). According to our review of the literature, this is the first prenatal example of 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of the WHS critical area. Our study reports a foetal case with a ring chromosome 4 aberration that was thoroughly characterised by array-CGH and provided detailed information for prenatal diagnostic genetic counselling.

Author(S) Details

Halit Akbas
Department of Medical Biology, Harran University, Faculty of Medicine, Sanliurfa, Turkey.

Naci Cine
Department of Medical Genetics, Kocaeli University, Faculty of Medicine, Kocaeli, Turkey.

Mahmut Erdemoflu
Department of Gynecology and Obstetrics, Dicle University, Faculty of Medicine Diyarbakir, Turkey.

Ahmet Engin Atay
Department of Internal Medicine, Bagcilar Education and Research Hospital, Istanbul, Turkey.

Selda Simsek
Department of Medical Biology and Genetics, Dicle University, Faculty of Medicine, Diyarbakir, Turkey.

Mahmut Balkan
Department of Medical Biology and Genetics, Dicle University, Faculty of Medicine, Diyarbakir, Turkey.

Aysegul Turkyilmaz
Department of Medical Biology and Genetics, Dicle University, Faculty of Medicine, Diyarbakir, Turkey.

Mehmet Fidanboy
Department of Medical Biology and Genetics, Dicle University, Faculty of Medicine, Diyarbakir, Turkey.

View Book:- https://stm.bookpi.org/NHMMR-V9/article/view/6901