Impact of Selection of Growth Chart in the Diagnosis of Suboptimal Fetal Growth and Neonatal Birthweight and Correlation with Adverse Neonatal Outcomes in a Third Trimester South Indian Antenatal Cohort; A Prospective Cross-Sectional Study
Conclusion: Despite substantial discrepancy between the growth charts in diagnosing fetal smallness, adding multivessel Doppler negates significant differences between them in diagnosing suboptimal fetal growth associated with uteroplacental insufficiency and adverse neonatal outcomes. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - August 16, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of Prune Belly Syndrome: A Case Report
We report Ultrasound (US) and Magnetic Resonance Imaging (MRI) findings of a case of prune belly syndrome diagnosed at 20  weeks of gestation. US showed grossly dilated fetal urinary bladder, dilated ureters and kidneys with no identifiable renal parenchyma, mild ascites and severe oligohydramnios. Fetal MRI confirmed the ultrasound findings. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - August 15, 2021 Category: Perinatology & Neonatology Source Type: research

Two Cases of Fetal Lower Urinary Tract Obstruction (LUTO) with Similar Presentations Before But Contrasting Outcomes After Fetoscopic Laser Fulguration of Posterior Urethral Valves
We report two cases of fetal cystoscopic laser valvotomy with fairly similar pre-operative profiles but contrasting postnatal outcomes, which re-iterates the fact that case selection in such cases continues to be a challenge. These are the first case reports on fetoscopic laser valvotomy in India to the best of our knowledge. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - July 25, 2021 Category: Perinatology & Neonatology Source Type: research

Intracranial Extracerebral Ectopic Brain Tissue (Glioneuronal Heterotopia): Rare Case Report
We report prenatal ultrasonographic and magnetic resonance imaging (MRI) findings of isolated extracerebellar ectopic brain tissue in the posterior fossa of a 22  weeks fetus. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - July 7, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis for a Novel Missense Mutation in X-Linked Intellectual Disability Gene Followed by Favorable Pregnancy Outcome
AbstractIntellectual disability (ID) is still unexplained in 60% of cases and prenatal diagnosis is very challenging for this condition. A second gravida presented to us at 6  weeks of gestation for counseling. Her previous child had been diagnosed with ID and autism. Detailed family history showed that her brother also had ID. Screening investigations were normal for the affected child. Exome sequencing report revealed variation of unknown significance (VOUS) onSIN3A gene andUPF3B gene. The variation in X-linkedUPF3B gene was reclassified as novel pathogenic variation after segregation studies with parents and affected ...
Source: Journal of Fetal Medicine - July 1, 2021 Category: Perinatology & Neonatology Source Type: research

SFM Clinical Practice Recommendations for Prenatal Invasive Diagnostic Procedures
AbstractDiagnostic prenatal invasive testing currently forms an integral and extremely significant component of the practice of obstetric care and has a twofold purpose. The primary aim is to offer management options and informed decision making to pregnant women and their companions. The secondary aim is to ensure that every fetus has an optimal outcome. Currently, most professional societies offer guidelines on prenatal invasive testing based on specific indications. Society of Fetal Medicine (SFM) clinical practice recommendations are developed for use by all practitioners of fetal and maternal healthcare. They are inte...
Source: Journal of Fetal Medicine - June 30, 2021 Category: Perinatology & Neonatology Source Type: research

A Rare Case Report of Prenatal Diagnosis of Bladder Exstrophy
We report a case and highlight the role of analysing various findings to come to a diagnosis. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - June 21, 2021 Category: Perinatology & Neonatology Source Type: research

Distribution of Fetal Anomalies According to International Statistical Classification of Diseases 10th Revision for Congenital Malformations and Chromosomal Defects: A Descriptive Study
This study attempts to extrapolate the utility of this classification in coding fetal anomalies prenatally to provide data on their burden and distribution at a tertiary referral centre. To apply ICD-10 coding system for congenital malformations and chromosomal defects an tenatally to study the distribution pattern of fetal anomalies and its correlation with postnatal coding, 150 consenting women with prenatal diagnosis of fetal malformation were recruited over a period of 18 months between March 2017 and October 2018. A provisional ICD-10 code was assigned based on antenatal ultrasound findings which was revised again ba...
Source: Journal of Fetal Medicine - June 14, 2021 Category: Perinatology & Neonatology Source Type: research

Multifetal Pregnancy Reduction in Quadruplets: Perinatal Outcome —Analysis of 20 Consecutive Cases
AbstractHigh order multiple pregnancy (HOMP) is defined as presence of three or more fetuses in utero. These pregnancies are often met with increased maternal and perinatal complications. The incidence of HOMP has been rising considerably with increasing usage of assisted reproductive techniques (ART). Multifetal pregnancy reduction (MFPR) is a standard procedure aimed to minimise maternal –fetal complications by converting high order multiples into twins or singletons. While the procedure has been well researched in triplets, literature is sparse for quadruplets. This is a case series of 20 consecutive cases of MFPR fol...
Source: Journal of Fetal Medicine - June 11, 2021 Category: Perinatology & Neonatology Source Type: research

Diffuse Cortical Dysplasia in the Donor of Twin-to-Twin Transfusion Syndrome Following Fetoscopic Laser Photocoagulation: A Case Report
We report the case of a TTTS donor twin with diffuse cortical dysplasia. Fetoscopic laser photocoagulation was performed at 18 weeks  of gestation, and no abnormalities were noted in the subsequent course of the pregnancy; however, infantile spasms developed at 4 months after birth, and brain magnetic resonance imaging revealed diffuse cortical dysplasia. It was bilateral and widespread. A genetic abnormality was suspected, bu t no pathogenic mutation was detected. Hypoperfusion may have altered the expression of guidance factors, resulting in abnormal cortical formation. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - June 11, 2021 Category: Perinatology & Neonatology Source Type: research

Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1
AbstractInborn errors of metabolism are an important cause of non-communicable under-five childhood mortality. Lack of confirmatory ‘genomic’ results in the deceased index case due to unavailability of post-mortem biological samples, can pose challenges in reproductive counseling of the parents in future pregnancies. Our case describes a couple seeking preconception genetic counseling after they lost their previous child to biochemically diagnosed Citrullinemia type-1. We confirmed the genomic diagnosis of Citrullinemia type-1 through the post-mortem genetic analysis of the DNA retrieved from the preserved blood spots,...
Source: Journal of Fetal Medicine - June 3, 2021 Category: Perinatology & Neonatology Source Type: research

Fetal Safety During Fetoscopic Spina-Bifida Repair: Anesthetic Concerns
AbstractPrenatal repair of fetal spina-bifida in the 2nd trimester has been shown to improve neurological function after delivery of the baby. Surgery can be performed with partial delivery of the fetus through a uterine incision, or increasingly via fetoscopy. Trocars to allow surgical instrumentation are introduced either via the exteriorized uterus or percutaneously. Both approaches require maternal anesthesia, an immobile anesthetized fetus and a non-contracting uterus. This can be achieved with administration of a general anesthetic to the mother, transplacental anesthesia of the fetus and tocolytic agents as required...
Source: Journal of Fetal Medicine - June 1, 2021 Category: Perinatology & Neonatology Source Type: research

Echogenic Fetal Heart Without Conduction Defect in Maternal Autoimmune Disease: A Lesser Known Association
AbstractPositive anti-Ro/SSA and anti-La/SSB antibodies in pregnant mothers are strongly associated with fetal congenital heart block  (CHB). Increased echogenicity of fetal endo-myocardium is one of the lesser known manifestations of maternal autoimmune disease. In this retrospective analysis of data from the last ten years (2010–2019) at our fetal medicine unit, we identified nine fetuses presenting in the second trimester with isolated increased echogenicity of the endo-myocardium without CHB. In three cases, mothers had a pre-existing autoimmune disease. The others were diagnosed with positive autoimmune antibod...
Source: Journal of Fetal Medicine - May 24, 2021 Category: Perinatology & Neonatology Source Type: research

‘Pseudo-septum’ Appearance in Septal Agenesis on Fetal MRI
Conclusion It is important to study the axial and coronal sections of the fetal brain for accurate diagnosis of septal agenesis. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - May 24, 2021 Category: Perinatology & Neonatology Source Type: research

A Solitary Fetal Cardiac Rhabdomyoma: A Hemodynamically Unstable Left Ventricular Tumor with Autopsy and Histopathology Findings
We report a rare solitary large left ventricular tumor, rhabdomyoma with pericardial effusion, causing unstable hemodynamics and thre atening intrauterine life with impending nonimmune hydrops. This was confirmed and further described with autopsy and histopathology findings. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - May 20, 2021 Category: Perinatology & Neonatology Source Type: research