Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?

Background: Posterior fossa malformation (PFM) is a relatively uncommon prenatal brain malformation. Genetic diagnostic approaches, including chromosome karyotyping, copy number variant (CNV) testing, and whole-exome sequencing (WES), have been applied in several cases of fetal structural malformations. However, the clinical value of appropriate genetic diagnostic approaches for different types of PFMs has not been confirmed.

The association of the hepatitis B virus infection and diffuse large B-cell lymphoma.

Objectives: To investigate the basic characteristics of patients with diffuse large B-cell lymphoma (DLBCL) and whether hepatitis B surface antigen positive (HBsAg [+]) affects the survival of patients with DLBCL.

Methods: The study was carried out at Affiliated Hospital of Hebei University, Baoding, China, including 602 DLBCL cases from January 2011 to December 2021. We analyzed patients' general clinical data and applied multivariate and univariate Cox analyses to assess the factors influencing their survival times.

Intra-abdominal umbilical venous diameter and abdominal circumference discordance at 15-20 weeks' gestation: simple markers in transverse abdominal plane to predict adverse pregnancy outcomes in monochorionic diamniotic twins.

Purpose: This study aimed to investigate the association between simple markers in fetal abdominal plane, intra-abdominal umbilical venous diameter (D) and abdominal circumference (AC) discordance at 15-20 weeks' gestation, and adverse pregnancy outcomes in monochorionic diamniotic (MCDA) twins.

Methods: We performed a retrospective analysis of MCDA twins with two live fetuses examined at 15-20 weeks from Jun 2020 to Dec 2021 at Beijing Obstetrics and Gynecology Hospital. Measurement of fetal AC and D was performed according to standard protocols.

Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities.

(1) Background: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the pathogenic genetic factors of CHDs. (2) Methods: We collected fetuses diagnosed with CHDs by echocardiography at our hospital from January 2012 to December 2021. We analyzed the CMA results of 427 fetuses with CHDs.

Prenatal ultrasound findings, genetic testing, and literature review of Isolated left subclavian artery.

Background: The occurrence of Isolated left subclavian artery (ILSA) is relatively rare, ILSA is caused by the persistence of the dorsal segment of the sixth left arch, with regression of the fourth arch artery and interruption of the left dorsal aorta at the distal end of the seventh intersegmental artery on the left side during embryonic development. The left subclavian artery is connected to the pulmonary artery through an arterial duct, which can be closed or unobstructed. This abnormality can lead to congenital subclavian steal syndrome and vertebrobasilar artery insufficiency.

A case report of serpentine-like syndrome and review of literature.

Background: Serpentine-like syndrome (SLS) is a rare foetal abnormality, characterized by brachioesophagus, secondary intrathoracic stomach and vertebral deformity. Herein, we report a case of SLS diagnosed based on imaging, genetic examination and autopsy findings.

Case Presentation: From the 19th to 23rd weeks of gestation, the foetus presented with brachioesophagus, secondary intrathoracic stomach, intrathoracic spleen with poly-spleen malformation, spinal deformity and diaphragm dysplasia, and some abdominal organs were partly located in the thoracic cavity.

Reference ranges of fetal heart function using a Modified Myocardial Performance Index: a prospective multicentre, cross-sectional study.

Objectives: The primary aim of this study was to establish the normal reference ranges of the fetal left ventricular (LV) Modified Myocardial Performance Index (Mod-MPI). A secondary aim was to evaluate the agreement between manual and automatic measurements for fetal Mod-MPI.

Design: A prospective, multicentre, cross-sectional study.

Aortic dissection during pregnancy and postpartum.

Patients with aortic dissection during pregnancy and postpartum period exhibit a high mortality. At present, a complete overview of aortic dissection during pregnancy and postpartum period is lacking. ​Methods: This systematic review included 80 reports published from 2000 to 2020, comprising a total study population of 103 patients with aortic dissection.

Evaluation of Hemodynamic Changes in Fetuses With Isolated Mild-to-Moderate Ventriculomegaly by Transabdominal Ultrasound.

Objectives: To investigate fetal hemodynamic alterations using transabdominal ultrasound in fetuses with isolated mild-to-moderate ventriculomegaly (VM).

Methods: Fetuses diagnosed with isolated mild-to-moderate VM by transabdominal ultrasound were evaluated for hemodynamic changes, including changes in fetal cardiac function, the umbilical artery, the ductus venosus, and the middle cerebral artery. The fetuses with isolated mild-to-moderate VM were divided into 2 groups, namely, before 32 weeks' gestation (20 weeks-31 weeks 6 days) and after 32 weeks' gestation (32-38 weeks), and matched to corresponding healthy control fetuses.

Assessment of fetal modified myocardial performance index in early-onset and late-onset fetal growth restriction.

Aim: To investigate the changes of modified myocardial performance index (Mod-MPI) in early-onset and late-onset fetal growth restriction (FGR) cases, and its association with adverse perinatal outcome.

Methods: This was a prospective study on 77 early-onset and 100 late-onset FGR cases. Hundred normal fetuses were matched as control groups for early-onset and late-onset FGR groups, respectively.

Next-generation sequencing identified genetic variations in families with fetal non-syndromic atrioventricular septal defects.

Atrioventricular septal defects (AVSDs) account for approximately 5% of all congenital heart disease (CHD). About half of AVSDs are diagnosed in cases with trisomy 21 (Down's syndrome, DS). However, many AVSDs occur sporadically and manifest as non-syndromic.

Assessment of Fetal Myocardial Performance Index in Women with Placenta Previa.

BACKGROUND This study investigated whether fetuses of placenta previa pregnancies have cardiac dysfunction by use of a modified myocardial performance index (Mod-MPI). MATERIAL AND METHODS A prospective cross-sectional study was conducted including 178 fetuses at 28-40 weeks of gestation. Eighty-nine fetuses of mothers with placenta previa and without pregnancy complications were recruited (placenta previa group) and matched with 89 fetuses of mothers with normal pregnancies (control group).

Fluoxetine, an Antidepressant Drug, Inhibited Cigarette Smoke-Induced Pulmonary Inflammation and Apoptosis in Rats.

The present study was designed to evaluate the anti-inflammatory effect of fluoxetine (Flu) against cigarette smoke (CS)-induced chronic obstructive pulmonary disease (COPD) in rats. Forty male Sprague-Dawley (SD) rats were randomly assigned to five groups: control group, CS group, dexamethasone (2 mg/kg) group, and flu (2 mg/kg). H&E staining demonstrated that Flu inhibited CS-induced pathological injury.