Results 31 to 40 of about 100,096 (312)

Prenatal Genetic Testing in Japan

Public Health Genomics, 2000
<i>Objective:</i> To examine the use of prenatal diagnosis and maternal serum maker tests (MSMTs) from January 1 to December 31, 1997, in Japan. <i> Methods:</i> Questionnaires were sent to medical facilities, which represent about 80% of the facilities providing prenatal diagnosis. <i>Results:</i> Prenatal diagnosis
I, Matsuda, K, Suzumori
openaire   +2 more sources

Indications, types, and diagnostic implications of prenatal genetic testing in Sub-Saharan Africa: A descriptive study.

PLoS ONE, 2023
ObjectiveTo describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women.MethodsThis study was a descriptive study on prenatal diagnostic genetic testing among Ethiopian pregnant women with ...
Abraham Fessehaye Sium, Tariku Shimels, Abdulfetah Abdulkadir Abdosh, Tesfaye Diress, Tigist Tsegaye, Tizibt Yifrashewa, Zewdu Terefework, Wondimu Gudu   +7 more
doaj   +1 more source

Update in non-invasive prenatal testing [PDF]

Minerva Ginecologica, 2019
Non-invasive prenatal testing (NIPT) has revolutionized the approach to prenatal diagnosis and, to date, it is the most superior screening method for the common autosomal aneuploidies, mostly trisomy 21. This screening is having a significant population-wide impact on the uptake of conventional screening and diagnostic testing.
D'ambrosio, V, Squarcella, A, Vena, F, Di Mascio, D, Corno, S, Pajno, C, Piccioni, MG, Brunelli, R, Pizzuti, A, Benedetti Panici, P, Giancotti, A.   +10 more
openaire   +2 more sources

Prenatal care coverage and correlates of HIV testing in sub-Saharan Africa: Insight from demographic and health surveys of 16 countries.

PLoS ONE, 2020
BackgroundPrenatal screening of pregnant women for HIV is central to eliminating mother-to-child-transmission (MTCT) of HIV. While some countries in sub-Saharan Africa (SSA) have scaled up their prevention of MTCT programmes, ensuring a near-universal ...
Oluwafemi Emmanuel Awopegba, Amarachi Kalu, Bright Opoku Ahinkorah, Abdul-Aziz Seidu, Anthony Idowu Ajayi   +4 more
doaj   +1 more source

Bioethics and Informed Consent in Prenatal Diagnostics

The Person and the Challenges, 2023
Innovative methods of prenatal diagnosis allow us to see the development of the fetus and to detect early disorders of fetal development, which may lead to an early diagnosis and possible treatment, or to a woman’s decision to terminate the pregnancy ...
Danielius Serapinas, Andrius Narbekovas
doaj   +1 more source

Early‐life high‐fat diet exposure increases Achilles tendon stiffness and induces transcriptomic alterations

FEBS Open Bio, EarlyView.
Early‐life exposure to a high‐fat diet altered intact Achilles tendons in rat offspring, making them thinner, stiffer, and molecularly distinct even without injury. These findings suggest that developmental high‐fat diet exposure may impair tendon quality and increase susceptibility to mechanical overload or tendon injury later in life.
Heyong Yin, Ziyang Yuan, Wenli Jiang, Ai Guo   +3 more
wiley   +1 more source

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

, 2014
Objective The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.
Yi Zhou, Pan, Xiaoyu, Tze Kin Lau, Shi, Shuqiong, Zheng, Jing, Shi, Xiaomei, Weiwei Xie, Qun Fang, Wei Wang, Fuman Jiang, Yuan Wei, Fang Chen, Hui Jiang, Shengpei Chen, Li, Xuchao, Jiang, Fuman, Zhang, Chunlei, Su, Fengxia, Liu, Qiufang, Lau, Tze Kin, Lei, Dongzhu, Wu, Qichang, Xuchao Li, Gao, Ya, Xu, Chenming, Guo, Xiaoling, Yangyu Zhao, Shuqiong Shi, Wang, Wei, Huijuan Ge, Xie, Weiwei, Xiaoyu Pan, Xiaoling Guo, Qichang Wu, Wei, Yuan, Lifu Liu, Ge, Huijuan, Zhang, Hongyun, Fang, Qun, Fengxia Su, Min Chen, Xiaomei Shi, Jiang, Hui, Jing Zheng, Zhao, Yangyu, Qiufang Liu, Chunlei Zhang, Chen, Fang, Ya Gao, Chen, Min, Liu, Lifu, Zhou, Yi, Chenming Xu, Xuan Huang, Dongzhu Lei, Huang, Xuan, Chen, Shengpei, Hongyun Zhang   +57 more
core   +1 more source

Noninvasive prenatal diagnosis of fetal RhD status using cell-free fetal DNA in maternal plasma with TaqMan® real-time PCR assay [PDF]

, 2007
Prenatal diagnosis is now part of established obstetric practice in many countries. However, conventional methods of prenatal diagnosis of obtaining fetal tissues for genetic analysis, including amniocentesis and chorionic villus sampling, are invasive
Rekhviashvili, Tea
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities [PDF]

, 2023
Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal.
Luk, HM, Hui, PW, Lau, EYT, Mok, YK, Au, SLK, Chung, B, Kan, ASY   +6 more
core   +1 more source