Reasons for failure of noninvasive prenatal test for cell-free fetal DNA in maternal peripheral blood.

Background: To explore reasons for the failure of noninvasive prenatal test (NIPT) for cell-free fetal DNA (cffDNA) in maternal peripheral blood, and discuss appropriate treatment schemes after the failure of the test.

Methods: Altogether 41,136 pregnant women participated in NIPT. Blood samples were taken again from pregnant women who failed the first blood collection upon their informed consent.

The prenatal diagnosis and prognosis of fetal right aortic arch and double aortic arch malformation: A single-center study.

Aim: This study aimed to characterize the pathological types, diagnosis, chromosomal abnormalities, and postnatal clinical manifestations of right and double aortic arch malformations in fetuses.

Methods: In this retrospective study, all fetuses diagnosed with right or double aortic arch anomalies for whom conventional two-dimensional echocardiography combined with spatio-temporal image correlation was performed at our tertiary referral center between December 2012 and December 2021 were included.

Results: In total, 234 fetuses with aortic arch abnormalities were identified.

A new and improved method of library preparation for non-invasive prenatal testing: plasma to library express technology.

Objectives: This study aims to develop a novel library preparation method, plasma to library express technology (PLET), to construct next-generation sequencing (NGS) libraries directly from plasma without cell-free DNA (cfDNA) isolation.

Methods: Peripheral blood samples (600) were obtained from a retrospective cohort of 300 pregnant women prior to invasive diagnostic testing. The samples were subsequently distributed between library preparation methodologies, with 300 samples prepared by PLET and 300 by conventional methods for non-invasive prenatal testing (NIPT) to screen for common trisomies using low-pass whole genome next generation sequencing.

Intra- and peritumoral radiomics for predicting early recurrence in patients with high-grade serous ovarian cancer.

Purpose: To explore values of intra- and peritumoral CT-based radiomics for predicting recurrence in high-grade serous ovarian cancer (HGSOC) patients.

Methods: This study enrolled 110 HGSOC patients from our hospital between Aug 2017 and Apr 2021. All patients underwent contrast-enhanced CT scans before treatment.

Radiomics for Detection of the EGFR Mutation in Liver Metastatic NSCLC.

Rationale And Objectives: The research aims to investigate whether MRI radiomics on hepatic metastasis from primary nonsmall cell lung cancer (NSCLC) can be used to differentiate patients with epidermal growth factor receptor (EGFR) mutations from those with EGFR wild-type, and develop a prediction model based on combination of primary tumor and the metastasis.

Materials And Methods: A total of 130 patients were enrolled between Aug. 2017 and Dec.

MRI-Based Radiomics Nomogram as a Potential Biomarker to Predict the EGFR Mutations in Exon 19 and 21 Based on Thoracic Spinal Metastases in Lung Adenocarcinoma.

Rationale And Objectives: Preoperative identifications of epidermal growth factor receptor (EGFR) mutation subtypes based on the MRI image of spinal metastases are needed to provide individualized therapy, but has not been previously investigated. This study aims to develop and evaluate an MRI-based radiomics nomogram for differentiating the exon 19 and 21 in EGFR mutation from spinal bone metastases in patients with primary lung adenocarcinoma.

Materials And Methods: A total of 76 patients underwent T1-weighted and T2-weighted fat-suppressed MRI scans were enrolled in this study, 38 were positive for EGFR mutation in exon 19 and 38 were in exon 21.

MRI-based radiomics analysis for predicting the EGFR mutation based on thoracic spinal metastases in lung adenocarcinoma patients.

Purpose: This study aims to develop and evaluate multi-parametric MRI-based radiomics for preoperative identification of epidermal growth factor receptor (EGFR) mutation, which is important in treatment planning for patients with thoracic spinal metastases from primary lung adenocarcinoma.

Methods: A total of 110 patients were enrolled between January 2016 and March 2019 as a primary cohort. A time-independent validation cohort was conducted containing 52 patients consecutively enrolled from July 2019 to April 2021.

Multiparametric MRI-Based Radiomics Approaches for Preoperative Prediction of EGFR Mutation Status in Spinal Bone Metastases in Patients with Lung Adenocarcinoma.

Background: Preoperative prediction of epidermal growth factor receptor (EGFR) mutation status in patients with spinal bone metastases (SBM) from primary lung adenocarcinoma is potentially important for treatment decisions.

Purpose: To develop and validate multiparametric magnetic resonance imaging (MRI)-based radiomics methods for preoperative prediction of EGFR mutation based on MRI of SBM.

Study Type: Retrospective.

Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.

The aim of the present study was to perform comprehensive prenatal diagnosis using various detection techniques on a fetus in a high‑risk pregnant woman, and to provide genetic counseling for the patient and her family so as to avoid birth defects. The routine karyotype analysis via amniocentesis, fluorescence in situ hybridization, and whole genome microarray technique were performed for the prenatal diagnosis of the fetus. The fetal karyotype was 46,X,ish der(X) inv(X)(p22.

[Prenatal diagnosis of a case with 46,XX,del(4),dup(21)].

Objective: To investigate the genetic cause and prognosis of a fetus with a rare karyotype.

Methods: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus.

[Detection of a fetus with paternally derived 2q37.3 microdeletion and 20p13p12.2 microduplication using whole genome microarray technology].

Objective: To perform prenatal diagnosis for a fetus with multiple malformations.

Methods: The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis.

[Genetic and prenatal diagnosis of a pregnant women with mental retardation].

Objective: To conduct genetic testing and prenatal diagnosis for a pregnant women with growth retardation, severe mental retardation, and a history of adverse pregnancies.

Methods: G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and whole genome DNA microarray were used to analyze the patient and her fetus.

Results: The women was found to be a chimera containing two cell lines with 47 and 46 chromosomes, respectively.

[Analysis of relationship between patients with chromosomal translocation and the outcome of pregnancy].

Objective: To explore the relationship between chromosome translocation and their phenotypic effect by analyzing the patients with loss pregnancy and avoiding fetuses with chromosomal abnormalities.

Methods: A total of 3067 cases with infertility or loss pregnancy were recruited to receive chromosome examination during January 2005 to December 2011 at Center of Prenatal Diagnosis, Peking University People's Hospital. Retrospective study was used to analyze the chromosome karyotypes and infertility or loss pregnancy.

Cytogenetic analysis of 355 cases of fetal loss in different trimesters.

Objective: We estimated the success rates of cytogenetic analyses in different tissue samples after intrauterine fetal deaths and analyzed the value of cytogenetic testing for determining the causes.

Methods: Women with intrauterine fetal deaths (occurring at > 10 weeks of gestation) were offered either invasive testing before medical induction of labor, or solid tissue biopsy diagnosis after delivery.

Results: A total cohort of 355 intrauterine fetal deaths was studied.

[Molecular and prenatal diagnosis of a pedigree with spinocerebellar ataxia].

Objective: To identify the type of a pedigree with spinocerebellar ataxia, and carry out asymptomatic carrier detection and prenatal diagnosis.

Methods: The blood samples of two patients in the spinocerebellar ataxia pedigree were collected. Based on the clinical characteristics of the pedigree and the disease incidence in China, the regions containing the CAG repeat of the SCA1, SCA2 and SCA3/MJD genes were amplified by polymerase chain reaction (PCR).

[Chromosome abnormalities and congenital heart diseases: a retrospective on 49 cases].

Objective: To investigate the association between congenital heart diseases and chromosome abnormalities.

Methods: Patients with congenital heart diseases who underwent chromosome examinations during Jan 2006 and Dec. 2009 in the Center of Prenatal Diagnosis of Beijing University People's Hospital were recruited in the study.

Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women.

Background: Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. However, no large-scale statistical study analyzing the correlation between fetal chromosome disorders and abnormal indicators during pregnancy has been done in China. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities, determine the feasibility of the various prenatal test methods and establish diagnostic guidelines for the early, middle, and late trimesters.

The expression of Gli3, regulated by HOXD13, may play a role in idiopathic congenital talipes equinovarus.

Background: Idiopathic congenital talipes equinovarus (ICTEV) is a congenital limb deformity. Based on extended transmission disequilibrium testing, Gli-Kruppel family member 3 (Gli3) has been identified as a candidate gene for ICTEV. Here, we verify the role of Gli3 in ICTEV development.

[Gene diagnosis for spinal muscular atrophy and its application study].

Objective: To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).

Methods: Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC.

[Application study on inversion diagnosis of F8 gene in hemophilia A].

Objective: To establish an effective method of genetic diagnosis on hemophilia A (HA) by detecting the inversion mutation in intron 22 of F8 gene.

Methods: Intron 22 inversion mutation in F8 gene was detected by using long distance-polymerase chain reaction (LD-PCR) and inversion-PCR (I-PCR) in 31 HA patients. The mothers of HA patients with intron 22 inversion mutation were selected to carrier diagnosis and amniotic fluid of the pregnant women with inversion mutation was collected at intermediate stage of gestation, and used to prenatal genetic diagnosis.