Background: Low-pass genome sequencing (GS) detects clinically significant copy number variants (CNVs) in prenatal diagnosis. However, detection at improved resolutions leads to an increase in the number of CNVs identified, increasing the difficulty of clinical interpretation and management.Methods: Trio-based low-pass GS was performed in 315 pregnancies undergoing invasive testing. Rare CNVs detected in the fetuses were investigated. The characteristics of rare CNVs were described and compared to curated CNVs in other studies.Results: A total of 603 rare CNVs, namely, 597 constitutional and 6 mosaic CNVs, were detected in 272 fetuses (272/315, 86.3%), providing 1.9 rare CNVs per fetus (603/315). Most CNVs were smaller than 1 Mb (562/603, 93.2%), while 1% (6/603) were mosaic. Forty-six de novo (7.6%, 46/603) CNVs were detected in 11.4% (36/315) of the cases. Eighty-four CNVs (74 fetuses, 23.5%) involved disease-causing genes of which the mode of inheritance was crucial for interpretation and assessment of recurrence risk. Overall, 31 pathogenic/likely pathogenic CNVs were detected, among which 25.8% (8/31) were small (<100 kb; n = 3) or mosaic CNVs (n = 5).Conclusion: We examined the landscape of rare CNVs with parental inheritance assignment and demonstrated that they occur frequently in prenatal diagnosis. This information has clinical implications regarding genetic counseling and consideration for trio-based CNV analysis.
The increase in luminosity, and consequent higher
backgrounds, of the LHC upgrades require improved rejection of fake
tracks in the forward region of the ATLAS Muon Spectrometer. The
New Small Wheel upgrade of the Muon Spectrometer aims to reduce the
large background of fake triggers from track segments that don't
originate from the interaction point. The New Small Wheel employs
two detector technologies, the resistive strip Micromegas detectors
and the “small” Thin Gap Chambers, with a total of 2.45 million
electrodes to be sensed. The two technologies require the design of
a complex electronics system given that it consists of two different
detector technologies and is required to provide both precision
readout and a fast trigger. It will operate in a high background
radiation region up to about 20 kHz/cm2 at the expected HL-LHC
luminosity of
ℒ = 7.5 × 1034 cm-2 s-1. The
architecture of the system is strongly defined by the GBTx data
aggregation ASIC, the newly-introduced FELIX data router and the
software based data handler of the ATLAS detector. The electronics
complex of this new detector was designed and developed in the last
ten years and consists of multiple radiation tolerant Application
Specific Integrated Circuits, multiple front-end boards, dense
boards with FPGA's and purpose-built Trigger Processor boards within
the ATCA standard. The New Small Wheel has been installed in 2021
and is undergoing integration within ATLAS for LHC Run 3. It should
operate through the end of Run 4 (December 2032). In this
manuscript, the overall design of the New Small Wheel electronics is
presented.
much research needed to look at the whole antenatal and postnatal anemia management pathway but, in the meantime, reduce red cell transfusion because of the well-recognized risks and cost associated with this practice and consider increasing the use of postdelivery iron therapy.
Introduction
Umbilical cord prolapse is a major obstetric emergency associated with significant perinatal complications. However, there is no consensus on the optimal decision‐to‐delivery interval, as many previous studies have shown poor correlation between the interval and umbilical cord arterial blood gas or perinatal outcomes. We aim to investigate whether bradycardia‐to‐delivery or decision‐to‐delivery interval was related to poor cord arterial pH or adverse perinatal outcome in umbilical cord prolapse.
Material and methods
This was a retrospective study conducted at a university tertiary obstetric unit in Hong Kong. All women with singleton pregnancy complicated by cord prolapse during labor between 1995 and 2018 were included. Women were categorized into three groups. Group 1: persistent bradycardia; Group 2: any type of decelerations without bradycardia; and Group 3: normal fetal heart rate. The main outcome was cord arterial blood gas results of the newborns in different groups. Maternal demographic data and perinatal outcomes were reviewed. Correlation analysis between cord arterial blood gas result and time intervals including bradycardia‐to‐delivery, deceleration‐to‐delivery, and decision‐to‐delivery were performed for the different groups with Spearman test.
Results
There were 34, 30, and 50 women in Groups 1, 2, and 3, respectively. Cord arterial pH and base excess did not correlate with decision‐to‐delivery interval in any of the groups, but they were inversely correlated with bradycardia‐to‐delivery interval in Group 1 (Spearman’s ρ = −.349; P = .043 and Spearman's ρ = −.558; P = .001, respectively). The cord arterial pH drops at 0.009 per minute with bradycardia‐to‐delivery interval in Group 1 (95% CI 0.0180‐0.0003). The risk of significant acidosis (pH < 7) was 80% when bradycardia‐to‐delivery interval was >20 minutes, and 17.2% when the interval was <20 minutes.
Conclusions
There is significant correlation between bradycardia‐to‐delivery interval and cord arterial pH in umbilical cord prolapse with fetal bradycardia but not in cases with decelerations or normal heart rate. The drop of cord arterial pH is rapid and urgent delivery is essential in such situations.
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