The fetus in the age of the genome

Due to a number of recent achievements, the field of prenatal medicine is now on the verge of a profound transformation into prenatal genomic medicine. This transformation is expected to not only substantially expand the spectrum of prenatal diagnostic and screening possibilities, but finally also to advance fetal care and the prenatal management of certain fetal diseases and malformations. It will come along with new and profound challenges for the normative framework and clinical care pathways in prenatal (and reproductive) medicine. To adequately address the potential ethically challenging aspects without discarding the obvious benefits, several agents are required to engage in different debates. The permissibility of the sequencing of the whole fetal exome or genome will have to be examined from a philosophical and legal point of view, in particular with regard to conflicts with potential rights of future children. A second requirement is a societal debate on the question of priority setting and justice in relation to prenatal genomic testing. Third, a professional-ethical debate and positioning on the goal of prenatal genomic testing and a consequential re-structuring of clinical care pathways seems to be important. In all these efforts, it might be helpful to envisage the unborn rather not as a fetus, not as a separate moral subject and a second “patient”, but in its unique physical connection with the pregnant woman, and to accept the moral quandaries implicitly given in this situation.

Annotation of Gene Alteration in Amniotic Fluid Cell Free RNA Transcriptome via Weighted Gene Co-expression Network Analysis

BackgroundHuman amniotic fluid (AF) cells are commonly used in prenatal diagnosis. The AF cell-free mRNA (cfRNA) derived from necrotic or apoptotic cells of fetus may provide feasible marker of organ development and fetal malformation. Analysis of gene co-expression network will help to annotate AF cfRNA gene variations in fetal diseases.MethodsDatasets of amniotic fluid free RNA were downloaded from the Gene Expression Omnibus database. Co-expressed modules based on normal fetus AF cfRNA transcriptome were established via Weighted Gene Co-expression Network Analysis. The relationship between modules and tissues were set up via tissue-specific gene expression analysis of genes in modules. Differential expressed genes in Down syndrome (DS), Edwards syndrome (ES), and Turner syndrome (TS) were analyzed via linear models implemented in the limma package. Gene Ontology (GO) analysis of modular specific differential expressed genes for these three syndrome fetus was performed separately. Based on relationship of GO terms, GO graph of all enriched GO terms were constructed. The associated enriched GO terms in GO graph were considered as the same subset. Numbers of GO terms of the same subset with diseases and modules were calculated.ResultsA total of 22 co-expressed modules were constructed. Most of co-expressed module eigengenes showed no correlation with gestation weeks. Probe sets with higher expression values showed significant clustering tendencies. Dominant tissues and modules were different for different modules and tissues respectively through analysis of tissue-specific genes distribution in modules. The total numbers of enriched GO terms in six major modules were related to diseases severity for ES, DS, and TS. Disease-specific modules for ES, DS, and TS were detected in relation to biological processes through GO analysis. Differential expressed genes in disease-specific module were identified for DS, ES, and TS.ConclusionsThe gene co-expression network for functional classification provides a potential tool for annotating AF cfRNA variations in fetal diseases.

Prenatal Management of Compromised Fetus

Compromised fetuses are those who are at increased risk in intrauterine life due to various factor resulting in increased mortality & morbidity. Fetal compromise in pregnancy is difficult to assess. Diagnostic skills for fetal diseases have improved enormously, but therapeutic approaches remains limited. “The Fetus should be considered as a separate individual and fetal medicine now needs to move into phase of evidence based management. Due to relative rarity of fetal disorder, a multicentre study is needed and this is the challenge for the next decade of fetal medicine.Bangladesh J Obstet Gynaecol, 2013; Vol. 28(2) : 92-99

Perspectives of fetal dystocia in cattle and buffalo

We review the causes of fetal dystocia in cows and buffalo. Two fetal causes are distinct fetal oversize and fetal abnormalities. Fetal oversize is common in heifers, cows of beef cattle breeds, prolonged gestations, increased calf birth weight, male calves and perinatal fetal death with resultant emphysema. Fetal abnormalities include monsters, fetal diseases and fetal maldispositions, and it is difficult to deliver such fetuses because of their altered shape. Although monsters are rare in cattle, a large number of monstrosities have been reported in river buffalo; yet also here, overall incidence is low. Diseases of the fetus resulting in dystocia include hydrocephalus, ascites, anasarca and hydrothorax. The most common cause of dystocia in cattle seems to be fetal maldispositions, of which limb flexion and head deviation appear to be the most frequent. We provide a brief description of the management of dystocia from different causes in cattle and buffalo. A case analysis of 192 and 112 dystocia in cattle and buffalo, respectively, at our referral center revealed that dystocia is significantly higher (P<0.05) in first and second parity cows and buffalo, and that dystocia of fetal origin is common in cows (65.62%) but less frequent (40.17%) in buffalo. In buffalo, the single biggest cause of dystocia was uterine torsion (53.57%). Fetal survival was significantly (P<0.05) higher both in cows and buffalo when delivery was completed within 12 h of second stage of labor.

A Proposed Scalable Environment for Medical Data Processing and Evaluation

Cardiotocography (CTG) is widely used for antenatal monitoring and assessment of fetal well-being. CTG measurement methods based on the phonocardiographic principle and a home-monitoring system utilizing low-cost devices for data acquisition have been proposed and implemented by our research group. Assessment and storage of the recordings are carried out in medical centers, and their calculation capacity is no longer enough to evaluate the ever-increasing amount of incoming data on the constantly growing number of different assessment methods. The present work proposes a new method to create an easily scalable environment based on a P2P principle to share the workload and data between medical centers, while also representing a framework for discovering new correlations between evaluation method results and symptoms of fetal diseases.