A5077442893- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Parvovirus B19 Infection Studies
- Genomic variations and chromosomal abnormalities
- Congenital Anomalies and Fetal Surgery
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Connective tissue disorders research
- Cardiovascular Issues in Pregnancy
- Pregnancy and Medication Impact
- Tissue Engineering and Regenerative Medicine
- Assisted Reproductive Technology and Twin Pregnancy
- RNA modifications and cancer
- GDF15 and Related Biomarkers
- Moyamoya disease diagnosis and treatment
- Sirtuins and Resveratrol in Medicine
- Cancer Genomics and Diagnostics
- Electrospun Nanofibers in Biomedical Applications
- Electrolyte and hormonal disorders
- Adipose Tissue and Metabolism
- 3D Printing in Biomedical Research
- Histone Deacetylase Inhibitors Research
Sichuan University
2019-2025
West China Second University Hospital of Sichuan University
2019-2025
State Key Laboratory of Biotherapy
2021-2025
Abstract To evaluate the clinical performance of noninvasive prenatal screening (NIPS) for fetal sex chromosome aneuploidies (SCAs), pregnant women were recruited in this retrospective observational study. The NIPS test was undertaken using high-throughput gene sequencing. In total,50,301 analysed demographic characteristics and medical history. Of them, 308 (0.61%) had high risk SCAs, including 138 45,X, 111 47,XXY, 42 47,XXX, 17 47,XYY. After pre-test counselling, 182 participants chose to...
To the Editor: Pathogenic copy number variants (CNVs) have been associated with congenital anomalies and neurodevelopmental disorders.[1] However, some fetuses pathogenic CNVs structural abnormalities, whereas others appear phenotypically normal. Prenatal assessment of in abnormalities currently relies on invasive prenatal diagnosis (IPD). absence routine screening for pregnant women whose do not restricts ability to identify clinically significant fetal CNVs. Non-invasive (NIPS) is widely...
To the Editor: Two-thirds of pregnant women experience nausea and vomiting during pregnancy (NVP) in their first trimester, with 0.3–10.8% developing a severe condition called hyperemesis gravidarum (HG). HG leads to dehydration, nutritional deficiencies, electrolyte imbalances, stress. NVP dramatically reduces quality life, causes substantial maternal morbidity, can result adverse outcomes. However, etiology pathology have been poorly understood until recently. Hormonal changes are...
Genetic factors are important causes of birth defects. Noninvasive prenatal screening (NIPS) is widely used for trisomy 21, 18, and 13, which the three most common fetal aneuploidies. Fetal fraction refers to proportion cell-free DNA in maternal plasma, can influence accuracy NIPS. Elucidating that provide guidance interpretation NIPS results genetic counseling. However, there currently no broad consensus on known fraction. The study aimed explore influencing A total 153,306 singleton...
Abstract Background Pathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal screening (NIPS) can enable interrogate the entire fetal genome to of CNVs. This study evaluated clinical application NIPS for detecting CNVs among fetuses USMs in pregnant women not advanced maternal age (AMA). Results Fetal aneuploidies were identified 6647 using Berry Genomics algorithm.Those positive results underwent...
Deng, Cechuan; Qu, Jia-Hua; Kim, InKyeom; Tang, XiaoqiangEditor(s): Wang, Ningning Author Information
Objectives To evaluate the performance of noninvasive prenatal screening (NIPS) for fetal common aneuploidy in twin pregnancies.Methods The data 5469 women with pregnancies were collected this retrospective observational study between January 2017 and December 2018. Patients underwent NIPS as first-line or after standard serum aneuploidy. was examined, a regression analysis performed to investigate testing failure cases low fraction.Results In study, 2231 (40.8%) patients opted primary test,...
We aimed to assess the clinical application of noninvasive prenatal screening (NIPS) based on second-trimester ultrasonographic soft markers (USMs) in low-risk pregnant women.
Cell-free DNA (cfDNA) is a useful biomarker in various clinical contexts. Herein, we aimed to identify maternal characteristics and pregnancy outcomes associated with failed NIPS test due high cfDNA concentrations.A retrospective study of cases plasma concentration pregnant women which was performed (from 174,318 cases). We reported the detection 126 (118 complete information) amount did not allow performance possible causes this result.622 (0.35%) had test, including (20.3%) concentrations....
Cardiovascular diseases (CVD) have become the leading cause of morbidity and mortality worldwide.[1,2] During past two decades, many experimental preclinical studies highlighted critical roles histone modifications (eg, acetylations methylations) in regulating cardiovascular development, homeostasis, disease progression by gene transcription.[3] The well-studied such as H3K9ac H3K27ac activate transcription shown functions homeostasis remodeling.[4] For instance, while class I II...
Background Our aim was to provide a theoretical basis for clinicians conduct genetic counseling and choose further prenatal diagnosis methods pregnant women who failed non-invasive screening (NIPS). Methods A retrospective analysis performed on had NIPS tests. Results Among the 123,291 samples, 394 did not obtain valid results due test failures. total of 378 were available follow-up, while 16 patients lost follow-up. Of these 378, 135 chose through amniocentesis, one case dysplasia recalled...
Background: This study aims to evaluate prenatal diagnosis methods following positive noninvasive screening (NIPS) results. Methods: According the results, 926 pregnant women were divided into three groups: main target disease group (high risk for trisomy 21, 18, or 13), sex chromosome aneuploidy (SCA) group, and other chromosomal abnormalities [abnormal Z-scores chromosomes than (T)21/T18/T13 SCAs]. The verification results then retrospectively analysed. Results: In rate of confirmed by...
OPINION article Front. Cell Dev. Biol., 12 March 2021Sec. Cellular Biochemistry https://doi.org/10.3389/fcell.2021.658656
Abstract Background: Pathogenic (P) copy-number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and non-invasive prenatal screening (NIPS) can enable interrogate the entire fetal genome to of CNVs. This study evaluated clinical application noninvasive for detecting copy number among fetuses (USMs). Results: Fetal aneuploidies CNVs were identified using Berry Genomics NIPS algorithm in 6632 pregnant women. algorithm. Those positive results underwent...
To prepare a quality control sample for non-invasive prenatal screening (NIPS) and evaluate its stability.According to the biological characteristics of cell-free fetal DNA derived from plasma pregnant women, simulated samples were prepared by mixing genomic fragments individuals with trisomy 21, 18 13 background plasma. The then compared commercially made products tested on various NIPS platforms stored at -80℃, -20℃, 4℃, 24℃ 37℃ periods time.The have attained expected results could be...