First trimester combined screening biochemistry in detection of congenital heart defects

Objective: To evaluate the performance of first trimester biochemical markers, pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (fβ-hCG), and nuchal translucency (NT) in detection of severe congenital heart defects (CHDs).

Methods: During the study period from 1 January 2008 to 31 December 2011, biochemical markers and NT were measured in 31,144 women as part of voluntary first trimester screening program for Down’s syndrome in Northern Finland. Data for 71 severe CHD cases and 762 controls were obtained from the hospital records and from the National Medical Birth Register, which records the birth of all liveborn and stillborn infants, and from the National Register of Congenital Malformations that receives information about all the CHD cases diagnosed in Finland.

Results: Both PAPP-A and fβ-hCG multiple of median (MoM) values were decreased in all severe CHDs: 0.71 and 0.69 in ventricular septal defects (VSDs), 0.58 and 0.88 in tetralogy of Fallot cases (TOFs), 0.82 and 0.89 in hypoplastic left heart syndromes (HLHSs), and 0.88 and 0.96 in multiple defects, respectively. NT was increased in all study groups except of VSD group. ROC AUC was 0.72 for VSD when combining prior risk with PAPP-A and fβ-hCG. Adding NT did not improve the detection rate. With normal NT but decreased (<0.5 MoM) PAPP-A and fβ-hCG odds ratios for VSD and HLHS were 19.5 and 25.6, respectively.

Conclusions: Maternal serum biochemistry improves the detection of CHDs compared to NT measurement only. In cases with normal NT measurement but low concentrations of both PAPP-A and fβ-hCG, an alert for possible CHD, especially VSD, could be given with thorough examination of fetal heart in later ultrasound scans.     

Second malignancies in multiple myeloma; emerging patterns and future directions

The changing landscape of treatment options for multiple myeloma has led to a higher proportion of patients achieving deep, long-lasting responses to therapy. With the associated improvement in overall survival, the development of subsequent second malignancies has become of increased significance. The risk of second malignancy after multiple myeloma is affected by a combination of patient-, disease- and therapy-related risk factors. This review discusses recent data refining our knowledge of these contributing factors, including current treatment modalities which increase risk (i.e. high-dose melphalan with autologous stem cell transplant and lenalidomide maintenance therapy). We highlight emerging data towards individualized risk- and response-adapted treatment strategies and discuss key areas requiring future research.     

Peer review of third trimester abdominal circumference measurements

BackgroundThird trimester growth scans represent a significant proportion of the workload in obstetric ultrasound departments. The objective of these serial growth scans is to improve the antenatal detection of babies with fetal growth restriction. The aim of this paper is to describe a method of peer review for third trimester abdominal circumference measurements which is realistic within busy obstetric ultrasound departments in the UK.MethodTwenty-two, third trimester, measured abdominal circumference images were randomly selected. Images were assessed subjectively by 12 sonographers using the image Criteria Achieved Score. For quantitative assessment, termed the Inter-operator Variability Score, three of the abdominal circumference (AC) images were blindly remeasured. Following this, a questionnaire was used to ascertain which image criteria sonographers considered most important and to reach an agreement on correct caliper placement.ResultsThe least frequently met image criteria with the lowest Criteria Achieved Score related to an oblique abdominal circumference section. These included fetal kidney present (Criteria Achieved Score 24.6%), multiple oblique ribs (Criteria Achieved Score 39.4%) and oblique spine (Criteria Achieved Score 37.5%). Caliper placement was also identified as inconsistent.DiscussionThis study demonstrates that the perfect AC section is not always possible and sonographers use their professional judgement to determine whether an image is acceptable. Seventy-three percent of the images reviewed were of an acceptable standard. There can be inconsistencies in sonographer opinion regarding what is an acceptable third trimester abdominal circumference image. These differences need to be addressed to maximise the effectiveness of the third trimester ultrasound examination.ConclusionPeer review can be used to monitor scan quality and identify areas of inconsistency.     

Cavum velum interpositum cysts in normal and anomalous fetuses in second trimester of pregnancy: Comparison of its size and prevalence

ObjectiveCavum veli interpositi (CVI) is a potential space below the splenium of corpus callosum and sometimes presents as a cyst.Materials and methodsIn this prospective cross-sectional study, 360 fetuses with normal second trimester scan and 152 s trimester fetuses with structural abnormalities were included.ResultsThe CVI cysts were more common in fetuses with brain anomaly compared to normal fetuses and fetuses with extra-central nervous system (CNS) anomalies (23% vs 18.3% and 18% respectively; p value < 0.01). The mean size of cysts in normal fetuses, fetuses with extra-CNS anomalies and fetuses with brain abnormalities was 4.6 mm, 5.8 mm and 9.2 mm respectively. There was a significant difference between cysts size in normal fetuses and fetuses with brain anomalies (p value < 0.01) and the cut-point was 7.1 mm.ConclusionThe prevalence of CVI cysts is more in fetuses with brain anomaly. Fetuses with a cyst size >7.1 mm need a more detailed brain examination.