The present study aimed to determine the accuracy (Z-value) of non-invasive prenatal testing (NIPT) results for sex chromosome aneuploidy (SCA) in routine clinical practice.Among a cohort 12505 pregnant females, maternal plasma samples collected from our hospital were utilized SCA analysis by NIPT detection. positive validated through an invasive procedure and karyotyping analysis. predictive value chromosomes was compared analyze Z-value.There 65 females with abnormalities within 12,505...

Abstract Background Human papillomavirus (HPV) is the leading cause of cervical cancer with more than 200 genotypes. Different genotypes have different potentials in causing premalignant lesions and cancers. In this study, we investigated age‐specific prevalence genotype distribution HPV Northwest China. Materials Methods We recruited 145,918 unvaccinated women from China for population‐based DNA screening test during June 2015 to December 2020. And a lab‐based was performed each volunteer...

Abstract Background To evaluate the accuracy and feasibility of noninvasive prenatal testing (NIPT) according to results NIPT pregnancy outcomes with different indications. Methods Between October 2014 December 2020, 20,626 pregnant women who received were included in this study. The positive predictive value (PPV) trisomy 21, 18, 13 (T21, T18, T13), sex chromosome abnormalities (SCAs), other chromosomal aneuploidies, microdeletion/microduplication calculated. confirmed by amniocentesis,...

Background With the increasing availability of chromosomal microarray analysis ( CMA ) for congenital heart defect CHD ), genetic testing now faces new challenges due to results with uncertain clinical impact. Studies are needed better define penetrance variants. The aim study was examine association between and s in fetuses normal karyotype. Methods This a retrospective 190 karyotype that underwent after diagnosis by fetal ultrasound. Invasive prenatal performed January 2015 December 2016...

Stylocarotid artery syndrome (SAS) is a rare variant of Eagle’s that may lead to transient ischemic attack or stroke. The underlying pathophysiological mechanism involves compression the internal carotid by an elongated styloid process (ESP), potentially resulting in vascular occlusion dissection. An ESP exceeding 2.5 cm deemed elongated, with length 3.0 considered clinically significant. Although prevalence ranges from 4.0% 7.3%, symptomatic cases are rare; symptoms present only...

Copy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion chromosome results in structural or functional abnormalities kidney and urethra, type 5 diabetes (MODY5), neurodevelopmental neuropsychiatric disorders. Microduplication is rare an increased risk epilepsy mental retardation. We studied prenatal diagnosis microduplication microdeletion syndrome fetuses congenital renal abnormalities.We conducted retrospective analysis...

Objectives: Cell-free fetal DNA has been widely used in prenatal genetic testing during recent years. We explored the feasibility of non-invasive (NIPT) for analysis common aneuploidies among pregnancies northwest China. Material and methods: A total 8594 maternal blood samples were collected from October 2014 to December 2017 Department Obstetrics Gynecology at First Affiliated Hospital Air Force Medical University. Cases with positive screening results by NIPT detection validated using...

Objective: There is scant information available about fetuses with 7q11.23 copy number variants (CNVs) found during pregnancy. We studied the clinical significance of CNVs in prenatal diagnosis. Materials and methods: The amniocentesis was performed on pregnant women who underwent ultrasound (US) fetal abnormalities. After karyotype analysis, were detected using BACs-on-Beads (BoBs) technique chromosome microarray analysis (CMA). Results: Of seven CNV 7q11.23, five had microdeletions two...

Abstract Background Central nervous system (CNS) abnormalities are a group of serious birth defects associated with high rates stillbirths, infant death, or abnormal development, and various disease‐causing copy number variations play much more important role in the etiology CNS abnormalities. This study intends to present retrospective prenatal diagnosis pregnancy outcome fetuses diagnosed abnormalities, evaluate clinical value chromosomal microarray analysis (CMA) Methods A total 356...

Background Non‐invasive prenatal testing ( NIPT ) is extensively used in the detection of fetal trisomies 21, 18, and 13, which promptly becoming a common clinical practice. Concerned about application non‐invasive autosomal duplications or deletion. Case Presentation A 34‐year‐old, healthy pregnant woman was referred to First Affiliated Hospital Air Force Medical University. The ultrasound examination indicates that low‐lying placenta, fetus has left ventricular bright spot small amount...

This study was aimed to investigate the vitamin B12 deficiency prevalence and symptoms in elderly people lived a community of Shanghai, China. A total number 962 resided Shanghai were recruited present study. They 60 years older, average age 76.38 ± 13.68 old. Information on previous diseases, currently prescribed over-the-counter medication, presence or absence relating obtained by questionnaire. The levels serum B12, folate homocysteine (Hcy) estimated. patients with screened. results...

To discuss the value of chromosomal microarray analysis (CMA) for identification DMD gene deletions during prenatal diagnosis.G-banded karyotyping and CMA were performed on fetuses with ultrasonographic soft markers but no family history Duchenne/Becker muscular dystrophy (DMD/BMD). Denaturing high-performance liquid chromatograghy (DHPLC) was used to detect mutations in umbilical cord blood peripheral samples from mothers.For fetus 1, amniocytes showed a normal karyotype, while detected 119...

We investigated the expression of caveolin-1 (Cav-1) in Kawasaki disease (KD) and analyzed its relationship with coronary artery lesions (CALs). Cav-1 participated progression CAL KD. A total 68 children KD (23 CALs), age matched a fever control group ( F , n = 28) normal N 24) were enrolled this study. was detected using an enzyme-linked immunosorbent assay. The results are following: (1) Compared N, significantly increased P < 0.05); there no significant difference between N. (2) serum...

<i>Background:</i> We present prenatal diagnosis of a 17p13.3 deletion and 15q24.1q26.3 duplication associated with paternal chromosome balance translocation, to illustrate the importance early ultrasound showed fetal structural abnormality reduce birth defects. <i>Case presentation: </i>A primigravid woman who 25-year-old underwent amniocentesis at 24weeks gestation because head structure abnormal fetus. The routine test indicates that fetus is normal in pregnancy. Karyotype analysis 46,...

Objective To investigate the effect of intramuscular and oral mecobalamin on hematologic markers neurologic signs in elderly patients with vitamin B12 deficiency.Methods One hundred twenty-six deficiency who fulfilled inclusion criteria were randomly divided into 3 groups,42 cases each,including group (to receive therapy intramuscularly),the ( to orally) control without therapy).The changes including hemoglobin (Hb,g/L),mean corpuscular volume (MCV,fl),serum levels (ng/L),folate total...

Objective To analyze the changes of olfactory function, bulb volume, depth sulcus in patients with Parkinson’s disease (PD) and their diagnostic values PD. Methods Thirty-four PD patients, 20 other neurological diseases 25 healthy controls, collected our hospital from January 2014 to October 2015, were enrolled. The detection threshold (DT) identification (IT) these three groups determined by usingfive odors arrays. Olfactory volume assessed MR imaging. groups, different courses H-Y...

We hereby reported a case of ring chromosome 18 complicated by the deletion 18p11.32p11.31 and 18q21.33q23 diagnosed prenatally G-banding karyotype chromosomal microarray analysis (CMA). Ultrasound scan indicated single umbilical artery intrauterine growth retardation at second trimester. The result karyotyping was 46, XN, r(18)(p11.3q21.3) CMA that there 3.3 Mb 16.9 18q21.33q23. All these suggested fetus might present with clinical manifestations such as retardation, epilepsy, speech delay...