[Prenatal diagnosis and genetic analysis of a special case with complex structural rearrangements of chromosome 8].

Objective: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8.

Methods: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness.

Results: The karyotype of the amniotic fluid sample showed extra materials on 8p.

Convolutional Neural Network-Based Computer-Assisted Diagnosis of Hashimoto's Thyroiditis on Ultrasound.

Purpose: This study investigates the efficiency of deep learning models in the automated diagnosis of Hashimoto's thyroiditis (HT) using real-world ultrasound data from ultrasound examinations by computer-assisted diagnosis (CAD) with artificial intelligence.

Methods: We retrospectively collected ultrasound images from patients with and without HT from 2 hospitals in China between September 2008 and February 2018. Images were divided into a training set (80%) and a validation set (20%).

Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases.

: Non-invasive prenatal testing (NIPT) is a commonly employed clinical method to screen for fetal aneuploidy, while the Y chromosome-based NIPT method is regarded as the gold standard for the estimation of fetal fraction (FF) of male fetuses. However, when the fetus has a derivative Y chromosome thereby containing a partial Y chromosome, the Y chromosome-based NIPT method cannot accurately calculate FF. Therefore, alternative methods to precisely calculate FF are required.

[Genetic analysis of a 45,X male fetus].

Objective: To analyze the prenatal diagnosis procedure for a 45,X male fetus.

Methods: A 31-year-old women underwent amniocentesis due to a moderate risk of trisomy 21. The fetal cells were subjected to chromosomal karyotyping, BACs-on-Beads (BoBs) assay, chromosomal microarray analysis and fluorescence in situ hybridization.

[Application of BACs-on-Beads in prenatal diagnosis].

Objective: To explore the value of BACs-on-Beads (BoBs) for the practice of prenatal diagnosis.

Methods: The results of chromosomal karyotyping and BoBs of 1773 prenatal samples were compared. Microdeletions and microduplications detected by BoBs were subjected to chromosome microarray analysis (CMA) with informed consent from patients.

[Study of two cases of prenatally detected small supernumerary marker chromosomes].

Objective: To determine the origin of two prenatally detected small supernumerary marker chromosomes (sSMCs).

Methods: The sSMCs were analyzed with combined G-banding, C-banding, fluorescence in situ hybridization (FISH), and single nucleotide polymorphisms array (SNP-array) techniques.

Results: In case 1, G-banding analysis has identified a 47,XY,+mar karyotype.