Results 21 to 30 of about 4,816,070 (413)

Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype

Molecular Cytogenetics, 2022
Background A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation ...
Shengfang Qin, Xueyan Wang, Jin Wang, Zhuo Zhang, Ximin Chen, Yan Yin, Mengling Ye, Jesse Li-Ling   +7 more
doaj   +1 more source

Beat-to-Beat Fetal Heart Rate Analysis Using Portable Medical Device and Wavelet Transformation Technique [PDF]

Heliyon 8(12), E12655, 2022, 2021
A beat-to-beat Tele-fetal Monitoring and comparison with clinical data are studied with a wavelet transformation approach. Tele-fetal monitoring is a big progress toward a wearable medical device for a pregnant woman capable of obtaining prenatal care at home.
arxiv   +1 more source

Explaining the experience of prenatal care and investigating the association between psychological factors with self-care in pregnant women during COVID-19 pandemic: a mixed method study protocol

Reproductive Health, 2020
Background Coronavirus disease 2019 (COVID-19) is a novel global public health emergency. Prenatal care (PNC) providing institutes should identify the needs and demands of pregnant women by optimizing the means of PNC services during the COVID-19 ...
M. Masjoudi, Armin Aslani, Somayyeh Khazaeian, Azita Fathnezhad-kazemi   +3 more
semanticscholar   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Evaluation of the quality of prenatal care based on the recommendations Prenatal and Birth Humanization Program.

Ciência & Saúde Coletiva, 2020
The Prenatal Care and Birth Humanization Program (PHPN) establishes a minimum number of procedures to be provided to all pregnant women during prenatal care.
Rosemar Barbosa Mendes, José Marcos de Jesus Santos, Daniela Siqueira Prado, R. Q. Gurgel, Felipa Daiana Bezerra, R. Gurgel   +5 more
semanticscholar   +1 more source

Exploring the focus of prenatal information offered to pregnant mothers regarding newborn care in rural Uganda [PDF]

, 2013
Background: Neonatal death accounts for one fifth of all under-five mortality in Uganda. Suboptimal newborn care practices resulting from hypothermia, poor hygiene and delayed initiation of breastfeeding are leading predisposing factors.
Atuyambe, Lynn, Ayiasi, Mangwi Richard, Criel, Bart, Garimoi, Christopher, Kolsteren, Patrick, Van Royen, Kathleen, Verstraeten, Roosmarijn   +6 more
core   +3 more sources

Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis

Molecular Cytogenetics, 2023
Background Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis.
Yang Yang, Wang Hao
doaj   +1 more source

Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics

Frontiers in Cardiovascular Medicine, 2021
Congenital heart disease (CHD) is the most common birth defect. The prenatal diagnosis of fetal CHD is completely dependent on ultrasound testing, but only ~40% of CHD can be detected.
Yahong Li, Yun Sun, Lan Yang, Mingtao Huang, Xiaojuan Zhang, Xin Wang, Xianwei Guan, Peiying Yang, Yan Wang, Lulu Meng, Ran Zhou, Xiaoyan Zhou, Chunyu Luo, Ping Hu, Tao Jiang, Zhengfeng Xu   +15 more
doaj   +1 more source

Multiview and Multiclass Image Segmentation using Deep Learning in Fetal Echocardiography [PDF]

, 2021
Congenital heart disease (CHD) is the most common congenital abnormality associated with birth defects in the United States. Despite training efforts and substantial advancement in ultrasound technology over the past years, CHD remains an abnormality that is frequently missed during prenatal ultrasonography.
arxiv   +1 more source