Significance of the 'line sign' in the diagnosis of congenital imperforate anus on prenatal ultrasound.

Background: The prenatal diagnosis of foetal imperforate anus is difficult. Most previous studies have been case reports. To provide useful information for diagnosing foetal imperforate anus, a retrospective review of diagnostic approaches was conducted.

The application of prenatal ultrasound in the diagnosis of congenital duodenal obstruction.

Background: The purpose of this research is to summarize the prenatal ultrasound characteristics of congenital duodenal obstruction (CDO), especially in the diagnosis of duodenal diaphragm and annular pancreas. At present, few researchers have summarized the specific ultrasound features of duodenal diaphragm and annular pancreas.

Methods: In this study, a retrospective analysis of 40 patients diagnosed with CDO between January 2016 and December 2019 was carried out.

46,XX Testicular Disorders of Sex Development With Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China.

The present study describes the first prenatally diagnosed 46,XX testicular disorders of sex development (46,XX testicular DSD) case with gene mutation by integrated analyses in a Chinese pedigree. Chromosome karyotype G-banding analysis of the proband showed a 46,XX karyotype, but B-ultrasound analysis demonstrated the existence of scrotum, testis and penis which inferred a male sexual differentiation. Aneuploidy and copy number variation (CNV) detection by low-coverage single-end whole genome sequencing (WGS) revealed a (sex-determining region Y) gene positive fragment of 224.

Disordered APC/C-mediated cell cycle progression and IGF1/PI3K/AKT signalling are the potential basis of Sertoli cell-only syndrome.

The cause of Sertoli cell-only syndrome (SCOS), a condition in which only Sertoli cells line the seminiferous tubules in the testis, is unknown. Three microarray data sets were downloaded from public databases and were used to compare SCOS and control group. A total of 291 genes differentially expressed (Log |FC| ≥ 1 and adjusted p value < 0.

Prenatal diagnosis of fetal intraabdominal extralobar pulmonary sequestration: a 12-year 3-center experience in China.

To provide useful information for diagnosing and predicting fetal intraabdominal extralobar pulmonary sequestration (IEPS), a retrospective review of diagnostic approaches was conducted. Ultrasonography was performed serially in 21 fetuses with IEPS from 2005 to 2017. Prenatal sonographic features, treatment, and outcomes of each case were evaluated and collected.