Residual risk of noninvasive prenatal screening in pregnancies with ultrasound anomalies.

Objectives: To discuss the residual risk (RR) of noninvasive prenatal screening (NIPS) for the mothers with fetal ultrasound abnormalities.

Methods: 880 pregnant women with fetal ultrasound abnormalities accepted prenatal diagnosis by chromosomal microarray analysis (CMA) after amniocentesis. Furthermore, the detection efficiency of NIPS was evaluated and calculated based on our previous studies and other literatures.

[Influence of maternal chromosomal abnormalities on non-invasive prenatal testing for fetal sex chromosome aneuploidies].

Objective: To study the influence of maternal sex chromosomal abnormalities on the prediction of fetal sex chromosome abnormalities (SCAs) by non-invasive prenatal testing (NIPT).

Methods: Thirty-six pregnant women with a prediction for fetal SCAs by NIPT were verified as false positive after prenatal diagnosis using amniotic fluid samples. With informed consent, these women were subjected to chromosomal karyotyping or copy number variations (CNVs) analysis through high-throughput sequencing.

The failure of non-invasive prenatal testing due to maternal dermatomyositis.

We experienced a case of a pregnant woman who failed to obtain a result from NIPT, due to the high level of total cell-free DNA. A subsequent ultrasound examination discovered that the fetus had severe intrauterine growth restriction, so the woman decided to abort the baby. At the same time, the woman developed slight swelling and tenderness of the proximal interphalangeal and meta-carpophalangeal joints.

Second-trimester Maternal Serum Screening Biomarkers in the Risk Assessment for Preeclampsia.

To evaluate the predictive value of second-trimester maternal serum screening biomarkers for preeclampsia, we analyzed the second-trimester serum prenatal screening data of pregnant women, and identified preeclampsia diagnosis by hospitalization records. 198 cases who developed preeclampsia and 1171 healthy controls were included in this study. In 15~20 gestational weeks, the cases who developed into preeclampsia had lower serum levels of uE, uE MoM, but higher AFP MoM than controls, while no difference on AFP, fβ-hCG, and fβ-hCG MoM were found.

[Preliminary analysis of the cause for the failure of non-invasive prenatal testing using cell-free fetal DNA derived from peripheral maternal blood].

Objective: To explore the cause of failure of non-invasive prenatal testing (NIPT) using cell-free fetal DNA from peripheral maternal blood.

Methods: A total of 31 832 cases of NIPT were retrospectively analyzed. The clinical data of pregnant women were analyzed and the outcome of pregnancy was followed up.

[Performance of prenatal screening by non-invasive cell-free fetal DNA testing for women with various indications].

OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing.

Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood.

Objective: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood.

Methods: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital.

Results: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times.

Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.

Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken.

Whether Alzheimer's diseases related genes also differently express in the hippocampus of Ts65Dn mice?

Background: Down syndrome is a condition which extra genetic material causes delays in child development, both mentally and physically. Strengthening the study of the neural defects of DS is of great significance.

Methods: Ts65Dn mice were used in this study.