To determine the feasibility of evaluating the subarachnoid space by measuring two novel sonographic parameters in axial section using transabdominal ultrasound, in addition to the parameters previously defined in coronal section, and to construct a normal range for the subarachnoid space width in singleton healthy fetuses. Healthy pregnant women between 20 and 29 weeks were scanned using transabdominal ultrasound. Four variables were measured for the evaluation of subarachnoid space width; sinocortical width and anterior craniocortical width in coronal plane, and lateral and posterior craniocortical width in axial plane. The data of 154 patients were recorded. SCW could be measured in 87.6 % (135) of fetuses, while the same figure was 77.9 % (120), 96.1 % (151) and 98.1 % (148) for anterior, lateral and posterolateral CCW, respectively. The SCW and anterior CCW did not display a significant correlation with gestational age and head circumference. The mean of SCW was 1.55 ± 0.41 mm with a range of 0.85–3.87 mm. The mean anterior CCW was 1.63 ± 0.39 mm with a range of 0.85–2.82 mm. A linear regression line was plotted between gestational age and lateral CCW (r = 0.707; p < 0.0001) and posterolateral CCW (r = 0.437; p < 0.0001), and nomograms for these parameters are constructed. This study presents a novel approach for the in utero evaluation of the subarachnoid space with two measurements in axial plane using transabdominal ultrasound. The nomograms will be helpful when there is a suspicion of subarachnoid space dilatation during routine cranial scan.
The scope of cell-free DNA (cfDNA) testing was expanded to the genome, which allowed screening for rare chromosome anomalies (RCAs). Since the efficiency of the test for RCAs remains below the common aneuploidies, there is a debate on the usage of expanded tests. This study focuses on the confirmatory and follow-up data of cases with positive cfDNA testing for RCAs and cases with screen-negative results in a series of 912 consecutive cases that underwent invasive testing following cfDNA testing. Chorion villus sampling (CVS), amniocentesis (AS), fetal blood sampling, and term placenta samples were investigated using classical cytogenetic and molecular cytogenetic techniques. Out of 593 screen-positive results, 504 (85%) were for common aneuploidies, 40 (6.7%) for rare autosomal trisomies (RATs), and 49 (8.3%) for structural chromosome anomalies (SAs). Of the screen-positives for RATs, 20 cases were evaluated only in fetal tissue, and confined placental mosaicism (CPM) could not be excluded. Among cases with definitive results (n = 20), the rates of true positives, placental mosaics, and false positives were 35%, 45%, and 10%, respectively. Among screen-positives for SAs, 32.7% were true positives. The confirmation rate was higher for duplications than deletions (58.3% vs. 29.4%). The rate of chromosomal abnormality was 10.9% in the group of 256 screen-negatives with pathological ultrasound findings. This study provides further data to assess the efficiency of expanded cfDNA testing for RATs and SAs. The test efficiency for cfDNA seems to be higher for duplications than for deletions, which is evidence of the role of expert ultrasound in identifying pregnancies at increased risk for chromosome anomalies, even in pregnancies with screen-negatives. Furthermore, we discussed the efficiency of CVS vs. AC in screen-positives for RATs.
Infantile fibrosarcoma (IFS) usually arises in the extremities during the first 12 months of life and responds well to surgery. It is unusual in the oropharynx or the prenatal period. Case report: ...
17 November 2022 in American Journal of Medical Genetics Part A
Intraoperative cell salvage (ICS) system performs autologous transfusion by filtering and reinfusing the shed blood into corporeal circulation during the surgery. Especially for pregnant Jehovah's Witnesses, the ICS system could be a life-saving intervention. This report describes the successful use of intravenous iron therapy and ICS during the cesarean delivery of a Jehovah's Witness diagnosed with placenta previa totalis who refused to receive any type of blood or blood product transfusion. Intravenous iron treatment initiated in the preoperative period can reduce the need for blood and blood product transfusion. The ICS system provides recognised advantages; however, its utilisation requires high technology equipment and skilled health staff.