Results 51 to 60 of about 5,907 (232)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Prediction of Placenta Abrubtion without Risk Factors [Risk Faktoru Olmadan Meydana Gelen Plasenta Dekolmani Onceden Ongorulebilir mi?]

Medicine Science, 2016
Many studies in the literature have shown the assosiation between serum analits of first and second trimester screening test with intra uterin growth retardation and abrubtio placenta.However these markers role in the predicting of placental abrubtion ...
Mehmet Kececioglu, Sezen Koseoglu, Aytekin Tokmak, Tugban Seckin Kececioglu, Burcu Kisa Karakaya, Ebru Ersoy, Yasemin Tasci   +6 more
doaj   +1 more source

Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature

Prenatal Diagnosis, EarlyView.
ABSTRACT Fetal congenital anomalies and genetic disorders complicate 3%–5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management.
Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B. Van den Veyver   +4 more
wiley   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

The Impact of Inherited Thrombophilia on First Trimester Combined Aneuploidy Screening Parameters

Acta Medica Bulgarica
Objective. To investigate the impact of thrombophilia on pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG) and the nuchal translucency (NT) during the first trimester of the pregnancy.
Kirovakov Z., Hinkova N., Konova E.
doaj   +1 more source

Profession‐Based Career Framework and Career Pathways: Insights From Australian and New Zealand Sonographers

Sonography, EarlyView.
ABSTRACT Introduction A profession‐based career framework for sonographers could assist with sonographer career development by guiding organisational career development frameworks, sonographer career planning and informing the alignment of professional knowledge and skills with education.
Kerry Thoirs, Paula Kinnane
wiley   +1 more source

Early Prenatal Sonographic Diagnosis of Lethal Arthrogryposis Multiplex Congenita: A Case Presentation

Gynecology Obstetrics & Reproductive Medicine, 2012
In this report, a 32 years old woman with increased nuchal translucency at 11th weeks of gestation and the diagnosis of Arthrogryposis Multiplex Congenita is demonstrated. After informing the family, chorion villus sampling (CVS) was performed.
Kazım Gezginç, Rengin Karataylı, Fatma Yazıcı, Tuba Tursun, Ali Acar   +4 more
doaj  

Evaluation of Nuchal Translucency Measurement in First Trimester Pregnancy [PDF]

International Journal of Fertility and Sterility, 2011
Background A significant number of pregnancies, particularly in women with previous histories of infertility, are associated with fetal abnormalities. Methods such as the nuchal translucency (NT) measurement enable us to identify more pregnancies
Mojgan Barati, Mahvash Zargar, Sara Masihi, Sima Taherpour   +3 more
doaj  

Performance of non‐invasive prenatal testing in vanishing‐twin and multiple pregnancies: results of TRIDENT‐2 study

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To evaluate the performance of non‐invasive prenatal testing (NIPT) in vanishing‐twin and multiple pregnancies. Methods This study was conducted as part of the TRIDENT‐2 study, in which NIPT was offered as a first‐tier screening test to women with a multiple pregnancy or vanishing‐twin pregnancy between 1 June 2020 and 31 March 2023 ...
J. C. A. van Eekhout, C. J. Bax, L. van Prooyen Schuurman, E. C. Becking, A. J. E. M. van der Ven, D. Van Opstal, E. M. J. Boon, M. V. E. Macville, M. N. Bekker, R. J. H. Galjaard, on behalf of the Dutch NIPT Consortium, E.A. Sistermans, L. Henneman, A. Polstra, E. Voorhoeve, S.L. Zelderen‐Bhola, E.M.J. Boon, M.P.R. Lombardi, M.C. Bakker, E.J. Bradley, E.M.J. Boon, C. Louwerens‐Zintel, M. Smit, M.C. van Maarle, M.B. Tan‐Sindhunata, K. van der Meij, H. Meij, C.J. Bax, E. Pajkrt, I.H. Linskens, L. Martin, J.T. Gitsels‐van der Wal, R. J. H. Galjaard, D. van Opstal, M.I. Srebniak, F.M. Sarquis Jehee, I.H.I.M. Hollink, F. Sleutels, W. de Valk, W.H. Deelen, A.M.S. Joosten, K.E.M. Diderich, M.E. Redeker, A.T.J.I. Go, M.F.C.M. Knapen, S. Galjaard, A.K.E. Prinsen, A.P.G. Braat, M.J.V. Hoffer, N.S. den Hollander, E.J.T. Verweij, M.C. Haak, M.V.E. Macville, S.J.C. Stevens, A. van der Wijngaard, L.H. Houben, M.A.A. van Esch‐Lennarts, L. Hamers, A.G.P. Jetten, S.A.I. Ghesquiere, B. de Koning, M. Zamani Esteki, C.J. Heesterbeek, C.E.M. de Die‐Smulders, H. Brunner, M.J. Pieters, A.B.C. Coumans, D.F.C.M. Smeets, B.H.W. Faas, D. Westra, M.M. Weiss, I. Derks‐Prinsen, I. Feenstra, M. van Rij, E. Sikkel, R.F. Suijkerbuijk, B. Sikkema‐Raddatz, I.M. van Langen, K. Bouman, L.K. Duin, G.H. Schuring‐Blom, K.D. Lichtenbelt, M.N. Bekker, E. van Vliet‐Lachotzki, J. Pot, A. J. E. M. van der Ven, S van 't Padje   +86 more
wiley   +1 more source

Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis of terminal 2q deletion and distal 10q duplication of paternal origin in a fetus associated with increased nuchal translucency and abnormal maternal serum screening results.
Chih-Ping Chen, Jui-Der Liou, Kok-Min Seow, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Li-Feng Chen, Wayseen Wang   +9 more
doaj   +1 more source