Placento-Cranial Adhesion: A New Syndromic Association
We present autopsy findings of four cases with gestation period ranging from 16 to 21 Â weeks. All of them displayed placenta-cranial adhesion, low weight for gestation, absence of flat bones of skull, anencephaly, dysmorphic facial features, short umbilical cord and limb/digit amputation with oligohydrambios. Three out of four showed nasal groove. We propose that there are grounds f or syndromic association of the features mentioned above. Furthermore, it is important that whenever such cases are identified termination of pregnancy should be considered. The article also underscores the importance of fetal autopsies. (Sour...
Source: Journal of Fetal Medicine - June 11, 2019 Category: Perinatology & Neonatology Source Type: research
Role of Autopsy in Diagnosis and Genetic Counselling of Congenital Malformations: a Prospective Analytical Study
The objectives of the study were to correlate the findings of antenatal ultrasound with that of perinatal autopsy, to determine the contribution of autopsy in refining the antenatal diagnosis and whether it altered the genetic counseling. This was a prospective, non-interventional analytical study conducted in the Department of Obstetrics and Gynaecology, JIPMER with the approval of Institutional Ethics Committee. Fourty-six fetuses which were stillborn/aborted or expired in newborn period due to congenital malformations were included. The findings of antenatal ultrasound were correlated with postnatal autopsy findings. Th...
Source: Journal of Fetal Medicine - June 9, 2019 Category: Perinatology & Neonatology Source Type: research
Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences
AbstractTo describe the utilization of Next Generation Sequencing technologies for genetic counseling and prenatal diagnosis. Ten families requested prenatal testing in view of previously affected offspring with genetically heterogeneous/hitherto undiagnosed disorders. Next generation sequencing was offered as a first tier investigation (1) in the probands who had not been diagnosed by baseline investigations, and (2) in cases where preliminary examination/testing suggested a genetically heterogeneous disorder, while the precise diagnosis was not available. The subsequently identified molecular basis enabled prenatal testi...
Source: Journal of Fetal Medicine - June 7, 2019 Category: Perinatology & Neonatology Source Type: research
Platelet and White Blood Cell (WBC) Counts in the First Trimester and Pregnancy Outcome: Prospective Controlled Study
AbstractIn pregnancy, there is usually a degree of thrombocytopenia and leukocytosis. Our aim was to find out if raised platelet and white blood cell counts (WBC) in the first trimester above 300  × 109/L and 10  × 103/mm3, respectively are related to the pregnancy outcome. This is a prospective controlled trial at Jordan University hospital in the period  between June 2017 to September 2018. Pregnant women were enrolled in the study any time less than 14 weeks with platelet count of 300 × 109/L or more and white blood cell count of 10.0  × 103/mm3 or more (study group, 100 pregnant women). The contro...
Source: Journal of Fetal Medicine - June 5, 2019 Category: Perinatology & Neonatology Source Type: research
Looking Back at Fetal Medicine in India in 2018, and Looking Forward to 2019
(Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - June 3, 2019 Category: Perinatology & Neonatology Source Type: research
Echogenic Kidneys  as an Antenatal Clue to the Metabolic Etiology: A Case Report
We report one such case of carnitine palmitoyltransferase II deficiency (CPT2) deficiency that manifested as isolated echogenic kidneys with early neonatal demise where successful early prenatal diagnosis was possible in the subsequent pregnancy. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - May 17, 2019 Category: Perinatology & Neonatology Source Type: research
Antenatal Presentation of TMEM5 Gene-Associated Congenital Muscular Dystrophy Expanding the Phenotypic and Genotypic Spectrum
We describe a clinicoautopsy phenotype of an occipital skull defect, ventriculomegaly, agenesis of corpus callosum and Dandy Walker Malformation (DWM) with a novel single base insertion in theTMEM5 gene, known to cause Walker Warburg syndrome. The clinical features of DWM extends the phenotype, while the pathogenic variant observed expands the mutational spectrum of the syndrome. This case highlights the importance of detailed postnatal phenotyping after a pregnancy is discontinued for an antenatallly detected malformation. Fetal samples must also be preserved for genetic tests to allow an etiological diagnosis in these si...
Source: Journal of Fetal Medicine - May 10, 2019 Category: Perinatology & Neonatology Source Type: research
First Trimester Diagnosis of Sirenomelia: A Case Report
We report a case of sirenomelia diagnosed in first trimester. Early diagnosis was possible as protocol-based anatomic evaluation was performed. Diagnosis of sirenomelia is easier in first trimester as severe oligohydramnios in later gestation hampers the fetal evaluation. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - April 15, 2019 Category: Perinatology & Neonatology Source Type: research
Premature Ductal Constriction and Reversible Early Isolated Right Ventricular Cardiomyopathy in a Neonate at Birth
AbstractCardiomyopathies are a group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually exhibit inappropriate ventricular hypertrophy or dilatation. Neonatal CMs account for about 1% of childhood cardiac disease, with an estimated incidence of 10:100,000 live births, and are responsible for 10% of all paediatric cardiac deaths [1]. Among this, transient right ventricular hypertrophy (RVH) is a rare anomaly that is seen during the neonatal period. The various causes associated with right ventricular hypertrophy are maternal diabetes, metabolic causes, NSAID use and premature ...
Source: Journal of Fetal Medicine - March 26, 2019 Category: Perinatology & Neonatology Source Type: research
Prenatal Diagnosis of Sirenomelia: Cluster of Three Cases
We describe three cases of fetal sirenomelia that presented within a span of 1 Â year and propose possible vascular insult as the cause. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 20, 2019 Category: Perinatology & Neonatology Source Type: research
The Effect of Training Pregnant Women and Their Husband ’s on the Anxiety in Pregnant Women with Previous Adverse Pregnancy Outcomes: A Controlled Randomized Clinical Trial
AbstractPregnant women with previous adverse pregnancy outcomes have a higher level of anxiety, which creates several problems for the mother and the fetus/infant. Decreasing the anxiety in these pregnant women is therefore of great importance. The present study was conducted to evaluate the effect of training on the anxiety in women with previous adverse pregnancy outcomes. This randomized, controlled, clinical trial was conducted on 132 pregnant women with previous adverse pregnancy outcomes. The women were randomly assigned to training (n  = 66) and control (n = 66) group. In the training group, women and their ...
Source: Journal of Fetal Medicine - March 4, 2019 Category: Perinatology & Neonatology Source Type: research
Plasma Calcium Levels in Preeclampsia Versus Normotensive Pregnant Women in a Tertiary Hospital: A Comparative Study
AbstractThe role of calcium supplementation in pregnancy to prevent preeclampsia is conflicting. The goal was  to determine if there was significant difference between plasma calcium levels in women with preeclampsia and normotensive pregnant women. This was a cross-sectional study of 90 consecutive preeclamptic and 90 normotensive pregnant. Blood samples were taken from them and the plasma isolated from e ach was analyzed using colorimetric method for calcium and albumin employing calcium kit, albumin kit and spectrum lab 7225 spectro-photometer set (Bran Scientific and Instrument Company, England). The data was analysed...
Source: Journal of Fetal Medicine - March 4, 2019 Category: Perinatology & Neonatology Source Type: research
Outcome of Pregnancies with Isolated Absent Fetal Nasal Bone in the Second Trimester
AbstractAbsent nasal bone is associated with 58 genetic syndromes, Trisomy 18 and trisomy 21. It increases the sensitivity of second trimester scan for aneuploidy from 83 to 90%. Since 2003, absent or unossified nasal bone is therefore an integral part of the second trimester scan. The present  study aimed at confirming the sensitivity of isolated absent NB in the second trimester USG, by reviewing the karyotypes and/or postnatal outcomes of such pregnancies up till at least 6 months of postnatal life. Facial profile was seen in 2D and 3D reconstructed view in all the cases to avoid mis sing the unilateral absence of nas...
Source: Journal of Fetal Medicine - February 28, 2019 Category: Perinatology & Neonatology Source Type: research
Joubert Syndrome: Two Different Prenatal Ultrasound Presentations
AbstractJoubert syndrome is a rare brainstem malformation characterized by hypoplastic vermis, thickened and elongated superior cerebellar peduncles, abnormally shaped 4th ventricle which may be associated with renal, ocular, hepatic orodigitofacial and cranial abnormalities and can be diagnosed on prenatal ultrasound and now is considered a part of Joubert syndrome and related syndromes (JSRD). Two prenatally detected cases of JSRD presented here expand the spectrum of sonological signs which should prompt a fetal medicine specialist to suspect JSRD. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - February 26, 2019 Category: Perinatology & Neonatology Source Type: research
Correlation of Doppler Velocimetry of Uterine and Umbilical Arteries with Placental Pathology in Pregnancy Associated with Intrauterine Growth Restriction
AbstractTo correlate histomorphology of the placenta with Doppler studies of uterine and umbilical arteries. A comparative observational study conducted on 75 pregnant women divided into 2 groups: Group 1 included 25 women with appropriate for gestational age fetuses. Group 2 included 50 women with FGR. Uterine and umbilical artery Doppler, study of placental pathology and immunohistochemistry of placental villous tissues were evaluated. There was a significant difference between the two  study groups regarding both abnormal uterine (0 vs. 58%) and umbilical artery (0 vs. 58%) Doppler (p <  0.001). Syncytial knotsâ...
Source: Journal of Fetal Medicine - February 4, 2019 Category: Perinatology & Neonatology Source Type: research
