Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.

Association between Plasma Brain-derived Neurotrophic Factor Level and Alzheimer's Disease: A Mendelian Randomization Study.

Background: High brain-derived neurotrophic factor (BDNF) concentrations have been found to be associated with a decreased risk of Alzheimer's disease (AD) in observational studies, but the causality for this association remains unclear. Therefore, we aimed to examine the association between genetically determined plasma BDNF levels and AD using a two-sample Mendelian randomization (MR) method.

Methods: Twenty single-nucleotide polymorphisms associated with plasma BDNF concentrations were identified as genetic instruments based on a genome-wide association study with 3301 European individuals.

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.

Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to imprinting effects, low-level mosaic aneuploidies and homozygosity for pathogenic variants. In the present study, UPD events were detected in 5 women with FGR by trio exome sequencing (trio-WES) of a cohort of 150 FGR cases.

[Study of a fetus with confined placental mosaicism for trisomy 2 in conjunct with fetal uniparental disomy and a literature review].

Objective: To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD).

Methods: Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out.

Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.

: Mosaicism is a common biological phenomenon in organisms and has been reported in many types of chromosome abnormalities, including the absence of heterozygosity (AOH). Due to the detection limitations of the sequencing approach, mosaic AOH events are rarely assessed in clinical cases. Herein, we report the performance of mosaic AOH identification using a low-pass (5~8-fold) WGS method (termed 'CMA-seq', an abbreviation for 'Chromosome Analysis by Sequencing') in fetal genetic diagnosis.

Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.

Background: Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds.

Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis.

Objective: Absence of homozygosity (AOH) is a genetic characteristic known to cause human diseases mainly through autosomal recessive or imprinting mechanisms. The importance and necessity of accurate AOH detection has become more clinically significant in recent years. However, it remains a challenging task for sequencing-based methods thus far.

Ex utero intrapartum therapy in infants with congenital diaphragmatic hernia: a propensity score matching analysis.

Objective: Previous studies have shown that ex utero intrapartum therapy (EXIT) is safe and feasible for newborns with congenital diaphragmatic hernia (CDH). This study reports our experience with EXIT in fetuses with CDH in an attempt to explore the efficacy of EXIT on the survival rate of this population.

Methods: A retrospective analysis of the clinical data of 116 children with CDH was conducted.

Impact of the COVID-19 pandemic on congenital diaphragmatic hernia patients: a single-center retrospective study.

Purpose: To investigate the impact of COVID-19 on the treatment of children with congenital diaphragmatic hernia (CDH).

Methods: We retrospectively collected and compared the data of patients with CDH admitted between January 1, 2020 and December 31, 2021(study group) with the CDH patients admitted before the pandemic between January 1, 2018 and December 31, 2019 (control group).

Results: During the pandemic, 41 patients with CDH diagnosed prenatally were transferred to our hospital, and 40 underwent surgical repair.

Assessment of Features between Multichannel Electrohysterogram for Differentiation of Labors.

Electrohysterogram (EHG) is a promising method for noninvasive monitoring of uterine electrical activity. The main purpose of this study was to characterize the multichannel EHG signals to distinguish between term delivery and preterm birth, as well as deliveries within and beyond 24 h. A total of 219 pregnant women were grouped in two ways: (1) term delivery (TD), threatened preterm labor (TPL) with the outcome of preterm birth (TPL_PB), and TPL with the outcome of term delivery (TPL_TD); (2) EHG recording time to delivery (TTD) ≤ 24 h and TTD > 24 h.

Recognition of uterine contractions with electrohysterogram and exploring the best electrode combination.

Background: As an essential indicator of labour and delivery, uterine contraction (UC) can be detected by manual palpation, external tocodynamometry and internal uterine pressure catheter. However, these methods are not applicable for long-term monitoring.

Objective: This paper aims to recognize UCs with electrohysterogram (EHG) and find the best electrode combination with fewer electrodes.

Association of a unicornuate uterus with adverse obstetric outcomes: A retrospective cohort study.

Objective: To estimate the association of unicornuate uterus (UU) with adverse obstetric outcomes.

Methods: Using data from 26 737 singleton childbirths from a tertiary hospital from 1999 to 2019, we identified 44 births from women with a UU. A total of 367 births from women with a normal uterus were randomly selected as controls.

Factors associated with test failure in pregnant women undergoing cell-free DNA-based testing for fetal trisomy.

Objective: To investigate the factors associated with cell-free DNA test failure, and the optimal subsequent management of these pregnancies.

Methods: This was a retrospective study of 27,363 singleton pregnancies undergoing cell-free DNA testing. Women with cell-free DNA test failure were divided into a high-risk group and a low-risk group according to their indications.

A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples.

Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we developed and validated rapid CNV-sequencing (rCNV-seq) for clinical application in prenatal diagnosis. Low-pass whole-genome sequencing was performed on PCR libraries prepared from amniocyte genomic DNA.

Automatic recognition of uterine contractions with electrohysterogram signals based on the zero-crossing rate.

Uterine contraction (UC) is an essential clinical indicator in the progress of labour and delivery. Electrohysterogram (EHG) signals recorded on the abdomen of pregnant women reflect the uterine electrical activity. This study proposes a novel algorithm for automatic recognition of UCs with EHG signals to improve the accuracy of detecting UCs.

Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.

The routine assessment to determine the genetic etiology for fetal ultrasound anomalies follows a sequential approach, which usually takes about 6-8 weeks turnaround time (TAT). We evaluated the clinical utility of simultaneous detection of copy number variations (CNVs) and single nucleotide variants (SNVs)/small insertion-deletions (indels) in fetuses with a normal karyotype with ultrasound anomalies. We performed CNV detection by chromosomal microarray analysis (CMA) or low pass CNV-sequencing (CNV-seq), and in parallel SNVs/indels detection by trio-based clinical exome sequencing (CES) or whole exome sequencing (WES).

Application of decision tree in determining the importance of surface electrohysterography signal characteristics for recognizing uterine contractions.

The aims of this study were to apply decision tree to classify uterine activities (contractions and non-contractions) using the waveform characteristics derived from different channels of electrohysterogram (EHG) signals and then rank the importance of these characteristics. Both the tocodynamometer (TOCO) and 8-channel EHG signals were simultaneously recorded from 34 healthy pregnant women within 24 h before delivery. After preprocessing of EHG signals, EHG segments corresponding to the uterine contractions and non-contractions were manually extracted from both original and normalized EHG signals according to the TOCO signals and the human marks.

Preliminary Study on the Efficient Electrohysterogram Segments for Recognizing Uterine Contractions with Convolutional Neural Networks.

Background: Uterine contraction (UC) is the tightening and shortening of the uterine muscles which can indicate the progress of pregnancy towards delivery. Electrohysterogram (EHG), which reflects uterine electrical activities, has recently been studied for UC monitoring. In this paper, we aimed to evaluate different EHG segments for recognizing UCs using the convolutional neural network (CNN).

Evaluation of convolutional neural network for recognizing uterine contractions with electrohysterogram.

Uterine contraction (UC) activity is commonly used to monitor the approach of labour and delivery. Electrohysterograms (EHGs) have recently been used to monitor UC and distinguish between efficient and inefficient contractions. In this study, we aimed to identify UC in EHG signals using a convolutional neural network (CNN).

Maternal Serum Angiogenic Factor sFlt-1 to PlGF Ratio in Preeclampsia: A Useful Marker for Differential Diagnosis and Prognosis Evaluation in Chinese Women.

The ratio of soluble fms-like tyrosine kinase-1 to placental growth factor (sFlt-1/PlGF) is elevated and proved to be useful in preeclampsia (PE) diagnosis. Its value in differential diagnosis with other pregnancy complications and prediction of pregnancy duration has yet to be clarified in Chinese population. We retrospectively analyzed 118 singleton pregnancies with suspected or diagnosed PE at the Peking Union Medical College Hospital (PUMCH) in China.

Development of Electrohysterogram Recording System for Monitoring Uterine Contraction.

Uterine contraction (UC) is an important clinical indictor for monitoring uterine activity. The purpose of this study is to develop a portable electrohysterogram (EHG) recording system (called PregCare) for monitoring UCs with EHG signals. The PregCare consisted of sensors, a signal acquisition device, and a computer with application software.

Preparation of a nanoscale dihydromyricetin-phospholipid complex to improve the bioavailability: in vitro and in vivo evaluations.

Dihydromyricetin (DMY), a flavanonol compound found as the most abundant and bioactive constituent in Ampelopsis grossedentata (Hand-Mazz) W.T. Wang, possesses numerous pharmacological activities, such as antioxidant, anti-inflammation, anticancer, anti-microbial, hypoglycemic and hypolipidemic effects, and so on.

Isobaric tag for relative and absolute quantitation based quantitative proteomics reveals unique urinary protein profiles in patients with preeclampsia.

Preeclampsia (PE) is one of the most significant pregnancy-related hypertensive disorders. Currently, there are no useful markers to predict the onset of the condition in pregnant women. To provide further insights into the pathogenesis of PE and identify biomarkers of the condition, we used isobaric tags for relative and absolute quantitation (iTRAQ) proteomics coupled with 2-D LC-MS/MS, to analyze urinary protein profiles from 7 PE patients and 7 normotensive pregnant women.