Copy number variation sequencing detection technology for identifying fetuses with abnormal soft indicators: a comprehensive study.

Objectives: This study aims to assess the value of copy number variation sequencing (CNV-seq) in prenatal diagnosis of abnormal ultrasound markers to reduce fetal birth defects.

Methods: Between June 2021 and December 2022, Yulin Maternal and Child Health Care Hospital examined 295 pregnant women with abnormal ultrasound indicators. We were categorized by the number of abnormalities and age.

Long segment ureteral reconstruction using the prepuce: A case report.

Long segment ureteral reconstruction has always posed a challenge for surgeons. We report the case of a 49 years male patient with a right ureteral obstruction between the ileal orthotopic bladder and the ureter. The patient underwent a 12cm ureteral reconstruction with the prepuce.

The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.

In southern China, α-thalassemia is the most prevalent hereditary monogenic disorder, and deletion variants are the predominant form. Conventional thalassemia diagnosis techniques are numerous, however they are all limited in their ability to detect rare deletions. Here, we discuss a family who sought genetic counseling during their fourth pregnancy after experiencing Hb Bart's hydrops fetalis in two of their previous pregnancies.

The impact of Duostim protocol on pregnancy outcomes in infertile patients: A meta-analysis comparing single and double conventional stimulation cycles.

Background: The DuoStim protocol has been proposed as an alternative to conventional single and double stimulation cycles in the treatment of infertility. However, its efficacy in improving pregnancy outcomes remains uncertain.

Objective: To systematically evaluate the impact of the DuoStim protocol on pregnancy outcomes in infertile patients by comparing it with single and double conventional stimulation cycles.

Comparative Evaluation of Clinical-MRI, Radiomics, and Integrated Nomogram Models for Preoperative Prediction of Placenta Accreta Spectrum.

Rationale And Objectives: The escalating incidence of placental accreta spectrum (PAS), a pregnancy complication, underscores the need for accurate prenatal diagnosis to guide optimal management strategies. This study aims to develop, validate, and compare various prenatal PAS prediction models integrating clinical data, MRI signs, and radiomics signatures.

Materials And Methods: A cohort comprising 111 patients (72 with PAS and 39 without, denoted as N-PAS) served as the training set, while another 47 patients (33 PAS and 14 N-PAS) constituted the validation set.

Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.

Increased sequencing depth can improve the detection rate of noninvasive prenatal testing (NIPT) for chromosome aneuploidies and copy number variations (CNVs). However, due to the technical limitations of NIPT, false-positives and false-negatives are inevitable. False-positives for aneuploidy and CNVs have been widely reported, but few missed cases have been reported.

The effect of CALIPER-derived parameters for idiopathic pulmonary fibrosis in predicting prognosis, progression, and mortality: a systematic review.

Background: High-resolution computed tomography (HRCT), as the main tool for monitoring idiopathic pulmonary fibrosis (IPF), is characterized by subjective variability among radiologists and insensitivity to subtle changes. Recently, a few studies have aimed to decrease subjective bias by assessing the severity of IPF using computer software, i.e.

Elevated C-reactive protein and complement C3 levels are associated with preterm birth: a nested case-control study in Chinese women.

Background: Currently, there are many studies researched the associations between maternal serum inflammatory indicators (i.e. ferritin, C-reactive protein [CRP], C3 and C4) and preterm birth (PTB).

Sperm-egg fusion disorder in a Chinese male patient was associated with a rare variant.

We report here a 28-year-old male with infertility. No abnormality was found in his semen examination. The couple achieved a successful pregnancy under the help of intracytoplasmic sperm injection during which we found that sperm could enter the zona pellucida, but could not fuse with the egg within the short insemination period.

A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy.

Hypoxia- and radiation-induced overexpression of Smac by an adenoviral vector and its effects on cell cycle and apoptosis in MDA-MB-231 human breast cancer cells.

A conditionally replicative adenoviral (CRAd) vector, designated as CRAd.pEgr-1-Smac, that promotes the overexpression of second mitochondria-derived activator of caspase (Smac) when stimulated by hypoxia and radiation was constructed. MDA-MB-231 cells were transfected with CRAd.