Nomogram of Fetal Thymus Using Thy-Box Technique in South Indian Population
AbstractTo create a nomogram of fetal thymus using the thy-box technique from a single center in South Indian population. This is a retrospective study that included 723 singleton pregnancies referred for anomaly scan. The study was conducted at a Fetal Medicine center in South India. The thymus was localized in the axial plane of the upper mediastinum of the fetus. At first, the internal mammary arteries that course laterally to the thymus were located by using color or power Doppler ultrasonography with a low pulse repetition frequency of these vessels. This was used to identify its lateral borders as described by Paladi...
Source: Journal of Fetal Medicine - March 8, 2018 Category: Perinatology & Neonatology Source Type: research
Sincipital Encephalocele, a Rare Anomaly Diagnosed Antenatally in the Late Pregnancy
AbstractA case of sincipital encephalocele with intracranial cyst is presented which was diagnosed at 35 weeks gestational age in a patient who had undergone no ultrasound examination earlier. The purpose of this article is to make the radiologists and the obstetricians aware of this condition, prognosis, and complications. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 8, 2018 Category: Perinatology & Neonatology Source Type: research
Prenatal Diagnosis of Cryptic Translocation t(5p;17q) with Fluorescent In Situ Hybridization
AbstractReciprocal chromosomal rearrangements, de novo or inherited, often raise a concern about the foetal health and outcome of the affected pregnancies. The size and origin of the translocated chromosomes could be variable. Cryptic translocations often remain undetected and misdiagnosed. Several studies confirmed that there could be a loss of a certain amount of genomic material within breakpoints, which leads to uncertainties in predicting the pregnancy outcome. A 38 year pregnant woman approached our clinic for a genetic counselling. This was her first pregnancy, with normal foetal growth on ultrasound follow up. Th...
Source: Journal of Fetal Medicine - March 8, 2018 Category: Perinatology & Neonatology Source Type: research
Prenatal Diagnosis of Cloacal Anomalies: An Analysis of Pattern of Presentation with Emphasis in Males
This study included a retrospective cohort analysis over 3 years. Of the 14 cases suspected prenatally, the diagnosis was confirmed by fetal autopsy in ten and postnatal surgery in two. There were 8 male fetuses, 3 females and 2 in whom sex couldn’t be determined and no information on sex was available in 1 case. The major findings on antenatal ultrasound were abdomino-pelvic mass in 6 (43%), ascites in 6 (43%), oligohydramnios in 12 (86%), hydronephrosis in 3 (21%), renal agenesis in 5 (36%), multi-cystic kidney disease in 4 (29%), non-visualization of bladder in 12 (86%), single umbilical artery in 2 (21% ), ambigu...
Source: Journal of Fetal Medicine - February 26, 2018 Category: Perinatology & Neonatology Source Type: research
Preimplantation Genetic Diagnosis in India: The Current Scenario and Potential Developments
AbstractPreimplantation genetic diagnosis (PGD) is the selective process undertaken during the in vitro fertilisation (IVF) procedure to diagnose genetic abnormalities in the embryos using various genetic techniques and implant only those embryos that are devoid of genetic abnormalities. It was established in the 1990s and is still a developing technology in India. This review summarizes the need for widespread and competent PGD centres equipped with advanced diagnostic techniques to reduce disease burden upon the country ’s economy and the requirement for sufficient education of the general population on the advantages ...
Source: Journal of Fetal Medicine - February 22, 2018 Category: Perinatology & Neonatology Source Type: research
Fetal Cardiac Anomalies
AbstractThis review is intended to give a practical guide to ultrasound recognition of the commonly observed fetal cardiac abnormalities and their key features on standard imaging planes during antenatal anomaly screening examinations. All information provided here, on the diagnosis and management of fetal cardiac anomalies, is based on the personal experiences of the authors and their expert reviews of the selected previously published studies. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - February 19, 2018 Category: Perinatology & Neonatology Source Type: research
Nasal Bone Assessment and Credibility of Visualization Between 11 and 14 Weeks: Experience in a Tertiary Fetal Medicine Center
The objective of our study was to assess the visualization of nasal bone in the first trimester and its credibility, by an experienced operator in a Tertiary Fetal Medicine Center. A total of 1245 women with singleton and multiple pregnancies, who were referred for routine first trimester ultrasound at 11 –14 weeks of gestation were assessed for the presence or absence of nasal bone in the fetus. The study was conducted at a Fetal Medicine Center in South India, by a highly experienced Fetal Medicine Consultant, during the period from October 2015 to December 2016. The fetal nasal bone was imaged in 1200 of these fetuse...
Source: Journal of Fetal Medicine - February 6, 2018 Category: Perinatology & Neonatology Source Type: research
First Trimester Diagnosis of Cloacal Exstrophy: A Discordant Anomaly in Monochorionic Monoamniotic (MCMA) Twins —Case Report
AbstractCloacal exstrophy is a rare anomaly, with a severe disruption of the urogenital tract resulting in a central mass of exstrophic bowel field flanked by two hemibladders. The reported case highlights the diagnosis of this discordant anomaly in monochorionic monoanmniotic twins as early as 12 weeks. It underscores the major ultrasound criteria like non visualisation of fetal bladder and infra-umbilical protruberant heterogenous mass which have an important role in early prenatal diagnosis of the anomaly. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - January 25, 2018 Category: Perinatology & Neonatology Source Type: research
Twin Pregnancy in Bicornuate Uterus –One Fetus in Each Horn
AbstractA 32-year old primigravida female of approximately 20 weeks gestation by her last menstrual period (spontaneous conception) was referred for anomaly scan. The ultrasonography revealed two uterine horns separated by thick (12 mm) uterine tissue with a fetus (average Gestational age 22 weeks each) in each horn. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - January 24, 2018 Category: Perinatology & Neonatology Source Type: research
Cardinal Clues Conducive to the Diagnosis of Fetal Absent Pulmonary and Aortic Valves in the First Trimester: A Case Report
The objective of our case report is to describe the prenatal ultrasound features of a case of APV co-existing with AAV. Following the detection of hydrops at 12+2 gestational weeks, a first trimester echocardiographic examination revealed situs solitus, sinus rhythm, normal septo-aortic continuity, presence of Ductus arteriosus, to- and fro-blood flow across both the pulmonary and the aortic orifices, ‘a’ wave reversal in the Ductus venosus, and reversed end diastolic flow in the umbilical artery; suggesting a diagnosis of APV with AAV. The couple opted for termination of the pregnancy. This case underscores the import...
Source: Journal of Fetal Medicine - January 24, 2018 Category: Perinatology & Neonatology Source Type: research
Increased Positive Predictive Value for a Single-Nucleotide Polymorphism-Based Non-invasive Prenatal Test for the 22q11.2 Deletion
AbstractNon-invasive prenatal testing (NIPT) has expanded its coverage beyond the common aneuploidies to include subchromosomal abnormalities such as the 22q11.2 deletion through the analysis of cell-free DNA. We previously reported a positive predictive value (PPV) of 18% and false-positive rate (FPR) of 0.38% for a single-nucleotide polymorphism (SNP)-based NIPT for fetal 22q11.2 deletion in a clinical cohort. Herein, we assess the performance of the test following methodology changes that include sequencing high-risk calls at high depth of read (HDOR) and raising the confidence threshold of the algorithm from 0.90 to 0....
Source: Journal of Fetal Medicine - January 17, 2018 Category: Perinatology & Neonatology Source Type: research
Fetal severe aortic regurgitation due to absence of left coronary leaflet of aortic valve
We present the first case of a fetus with isolated congenital severe aortic regurgitation from absent aortic cusp and pathological specimen of this rare entity. On fetal echocardiography at 19 weeks of gestation, there were dilated aortic root and severe aortic regurgitation causing ‘to and fro’ colour flow signals across left ventricular outflow. This caused severe LV systolic dysfunction, significant ventricular dyssynchrony and cardiomegaly. On fetal autopsy, aortic root was dila ted. Left coronary cusp was absent while other cusps showed mild thickening. Left ventricle was dilated and hypertrophied. Pulmonary val...
Source: Journal of Fetal Medicine - January 17, 2018 Category: Perinatology & Neonatology Source Type: research
First Trimester Diagnosis of Iniencephaly Confirmed by Postnatal Autopsy
We report a case diagnosed in the first trimester using two-dimensional and three-dimensional ultrasound. The diagnosis was confirmed on postnatal autopsy. This case highlights the importance of diagnosing structural abnormalities in the first trimester itself. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - January 4, 2018 Category: Perinatology & Neonatology Source Type: research
Uterine artery Doppler: Changing Concepts in Prediction and Prevention of PE and FGR
AbstractOne of the most promising screening tools in detection of PE and FGR is uterine artery Doppler velocimetry. The underlying pathology for the development of PE is thought to be due to defective trophoblastic invasion of uterine spiral arteries. Increased impedance during mid-trimester is known to be associated with a high incidence of adverse pregnancy outcomes. High resistance in uterine arteries can be observed as early in the first trimester in cases with impaired placentation. The predictive efficacy of first trimester UtA Doppler has improved after the development of risk specific algorithm by including materna...
Source: Journal of Fetal Medicine - December 21, 2017 Category: Perinatology & Neonatology Source Type: research
Screening for Preeclampsia
AbstractPre-eclampsia, still continues to be a major cause of maternal and fetal morbidity and mortality, inspite of being an active area of research. The importance of early prediction of pre-eclampsia lies in the fact that it allows for timely initiation of preventive therapy. A combination of biophysical and biochemical markers are superior to other tests for early prediction of the development of pre-eclampsia. With the inversion of pyramid of antenatal care, preeclampsia screening in the first trimester needs to become the standard of care. Researchers now talk of predicting preeclampsia even in the third trimester to...
Source: Journal of Fetal Medicine - December 19, 2017 Category: Perinatology & Neonatology Source Type: research
