Prenatal testing

Noninvasive prenatal testing (NIPT) of recessive monogenic diseases depends heavily on knowing the correct parental haplotypes. However, the currently used family-based haplotyping method requires pedigrees, and molecular haplotyping is highly challenging due to its high cost, long turnaround time, and complexity.

9p vibransone 28-03-2024 13 2   Download

Non-invasive prenatal testing (NIPT) as a screening method for common chromosomal abnormalities such as trisomy 21, 18, and 13 has been widely adopted. In the last five years, the possibility of NIPT to detect common single-gene disorders (SGD) due to de novo mutations or paternal inherited had been reported worldwide.

8p vilarry 12-03-2024 1 1   Download

Xét nghiệm sàng lọc trước sinh không xâm lấn NIPT (Non-Invasive Prenatal Testing - NIPT) đang ngày càng được ứng dụng rộng rãi trên thế giới. Thiết lập và đánh giá qui trình sàng lọc trước sinh không xâm lấn mất đoạn 22q11.2 gây ra hội chứng DiGeorge cho thai thông qua việc xác định độ nhạy và độ đặc hiệu kỹ thuật của xét nghiệm.

5p vigrab 28-02-2024 4 2   Download

Retinoblastoma (Rb) is a rare cancer that develops from the layer of cells in the retina. A germline mutation in the RB1 gene is a high risk factor for Rb. We performed prenatal genetic diagnosis on two pregnant women who had had a child with hereditary Rb and continued checking their newborns' conditions after giving birth

6p vimulcahy 18-09-2023 6 3   Download

Part 2 book "Emery’s elements of medical genetics" includes content: Congenital abnormalities, dysmorphic syndromes, and learning disability; chromosome disorders; inborn errors of metabolism; mainstream monogenic disorders; genetic counseling, mainstream monogenic disorders; prenatal testing and reproductive genetics; ethical and legal issues in medical genetics.

186p oursky03 21-08-2023 3 2   Download

Non-invasive prenatal testing (NIPT) is being applied more widely in Vietnam. However, the effects of NIPT on prenatal diagnosis have not been studied much in our country. This study aims to analyze the impact of NIPT on the changes in the number of routine screening tests for chromosomal abnormalities 21, 18, and 13 and the impact of NIPT on invasive prenatal diagnostic procedures and propose strategies to screen for fetal aneuploidy.

7p vimclaren 20-10-2022 5 2   Download

Xét nghiệm sàng lọc trước sinh không xâm lấn NIPT (Non-Invasive Prenatal Testing - NIPT) đang ngày càng được ứng dụng rộng rãi trên thế giới. Gần đây, nhiều nghiên cứu cho thấy NIPT sử dụng kỹ thuật giải trình gen tự thế hệ mới (Nextgeneration sequencing – NGS) có khả năng phát hiện một phổ rộng các bệnh đơn gen dạng di truyền trội. Thiết lập và đánh giá qui trình trước sinh không xâm lấn cho các bệnh di truyền trội đơn gen thông qua việc xác định độ nhạy và độ đặc hiệu kỹ thuật của xét nghiệm.

6p viginnirometty 28-04-2022 34 1   Download

Diclofenac sodium (DS), a potent inhibitor of cyclooxygenase, reduces the release of arachidonic acid and formation of prostaglandins. Being a nonsteroid drug that shows antiinflammatory action, the possible side effects of fetal DS administration gain importance in public and medical applications. Herein, the effects of DS administration (1 mg/kg) during gestational days 5–20 were investigated on the performance of Wistar rat pups in a variety of behavioral tasks.

9p thiencuuchu 27-11-2021 9 1   Download

Various algorithms have been developed to predict fetal trisomies using cell-free DNA in non-invasive prenatal testing (NIPT). As basis for prediction, a control group of non-trisomy samples is needed. Prediction accuracy is dependent on the characteristics of this group and can be improved by reducing variability between samples and by ensuring the control group is representative for the sample analyzed.

5p vicoachella2711 27-10-2020 13 1   Download

To determine the prevalence of Chlamydia trachomatis urogenital infection and to identify behavioral, demographic, and clinical factors associated with the infection in pregnant women’s. One-hundred-eleven patients 15-39 years old, at 10-16 weeks of gestation and attending the prenatal clinic at our hospital, were tested for Chlamydia trachomatis infection by using ELISA IgM to screen all the young women with PID, Infertility for Chlamydial infections.50 negative groups were included in the study.

7p nguaconbaynhay7 15-08-2020 13 2   Download

Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs).

4p caothientrangnguyen 09-05-2020 18 1   Download

Chronic psychological stress is a risk factor for osteoporosis. Maternal active mastication during prenatal stress attenuates stress response. The aim of this study is to test the hypothesis that maternal active mastication influences the effect of prenatal stress on bone mass and bone microstructure in adult offspring.

8p vilusaka2711 19-11-2019 8 0   Download

Bài viết được nghiên cứu với mục đích nhằm xác định tỷ lệ thai nguy cơ cao của hội chứng Down và đánh giá giá trị của xét nghiệm Triple test để phát hiện thai bị hội chứng Down ở thai phụ được xét nghiệm tại Trung tâm Chẩn đoán trước sinh, Bệnh viện Phụ sản Trung ương từ tháng 1 - 2014 đến tháng 6 - 2014.

8p jangni2 20-04-2018 22 2   Download

Overall Health: Early pregnancy and childbear- ing negatively affect the overall health of young women and their children. In poor countries, ado- lescent mothers are twice as likely to die from preg- nancy- or childbirth-related causes as older moth- ers. Data from 15 developing countries reveal that adolescents under the age of 17 are far less likely to receive skilled prenatal and delivery care than women between the ages of 19 and 23 (Reynolds et al., 2003).

12p ut_hai_can 25-12-2012 40 4   Download

Prenatal diagnosis, traditionally used as a synonymous for invasive fetal testing and evaluation of chromosomal constellation, presently encompasses many other issues like pedigree analyses, fetal risk assessment, population screening, genetic counseling and fetal diagnostic testing as well. Ultrasound guided chorionic villus samling (CVS), amniocentesis and, to a lesser extent, fetal blood sampling are used routinely in fetal medicine units. Other fetal tissue biopsies such as skin, liver and muscle biopsy are used only rarely.

219p xunu1311 02-11-2012 60 4   Download

The correct early diagnosis of pregnancy is often urgent. For example, a diagnosis is essential to institute studies or treatment of problems that may jeopardize the life or health of mother or offspring. Today this is usually accomplished by early beta-subunit hCG testing or ultrasonic scanning because a definite clinical diagnosis of pregnancy before the second missed period is possible in only about two thirds of patients. However, the practitioner must be familiar with the signs and symptoms of pregnancy to properly test for and treat the early pregnancy. ...

50p lananhanh123 27-08-2011 61 2   Download

STD care and management begin with risk assessment and proceed to clinical assessment, diagnostic testing or screening, treatment, and prevention. Indeed, the routine care of any patient begins with risk assessment (e.g., for risk of heart disease, cancer). STD/HIV risk assessment is important in primary care, urgent care, and emergency care settings as well as in specialty clinics providing adolescent, prenatal, and family planning services.

5p chubebandiem 14-12-2010 87 2   Download

Cytogenetic Testing in Prenatal Diagnosis The vast majority of prenatal diagnostic studies are performed to rule out a chromosomal abnormality, but cells may also be propagated for biochemical studies or molecular analyses of DNA. Three procedures are used to obtain samples for prenatal diagnosis: amniocentesis, chorionic villus sampling (CVS), and fetal blood sampling. Amniocentesis is the most common procedure and is routinely performed at 15–17 weeks of gestation.

5p konheokonmummim 03-12-2010 68 3   Download