Results 81 to 90 of about 1,327,945 (260)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing [PDF]

, 2015
The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome ...
Constantinou, Panayiotis, D'Allesandro, Mariella, Dean, John, Deciphering Developmental Disorders Study, Hauptfleisch, Catherine, Lochhead, Paul, Samant, Shalaka   +6 more
core   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Renal function in children with congenital neurogenic bladder [PDF]

, 2011
AIMS: Preservation of renal function in children with congenital neurogenic bladder is an important goal of treatment for the disease. This study analyzed the evolution of renal function in patients with congenital neurogenic bladder.
KOCH, Vera, OLANDOSKI, Karen Previdi, TRIGO-ROCHA, Flavio Eduardo   +2 more
core   +5 more sources

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

Indian Journal of Radiology and Imaging, 2013
Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report
Zohra Ahmad, Ankur Goyal, Chandan J Das, Dipika Deka, Raju Sharma   +4 more
doaj   +1 more source

Genetic drivers of kidney defects in the digeorge syndrome [PDF]

, 2017
BACKGROUND The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney.
Allegri, L., Anderson, B.R., Arapovic, A., Barasch, J.M., Barton, D., Bodria, M., Capone, V.P., Carpentier, W., Carrea, A., Casolari, E., Crowley, T.B., Cusi, D., D'Agati, V., Darlow, J.M., Deng, R., Drozdz, D., Drummond, I.A., Fasel, D.A., Flogelova, H., Furth, S.L., Gaillard, D., Gesualdo, L., Gharavi, A.G., Ghiggeri, G.M., Gillies, C.E., Gucev, Z., Hakonarson, H., Heidet, L., Hildebrandt, F., Honig, B., Imamoto, A., Izzi, C., Jeanpierre, C., Katsanis, N., Kiryluk, K., Krzemien, G., Kunac, N., Latos-Bielenska, A., Lifton, R.P., Liu, Q., Liu, Y.P., Lopez-Rivera, E., Lozanovski, V.J., Maiorana, M., Makar, G.S., Martino, J., Materna-Kiryluk, A., McDonald-McGinn, D.M., Miklaszewska, M., Mitrotti, A., Mizerska-Wasiak, M., Morrow, B.E., Otto, E.A., Papaioannou, V.E., Petrey, D.S., Puri, P., Racedo, S.E., Salomon, R., Samii, A., Sampson, M.G., Sanna-Cherchi, S, Saraga, M., Saraga-Babic, M., Scolari, F., Sikora, P., Steers, N.J., Szczepanska, M., Szmigielska, A., Tasic, V., Tkaczyk, M., Van Wijk, J.A.E., Vega-Warner, V., Verbitsky, M., Vivante, A., Vukojevic, K., Warady, B.A., Werth, M., Westland, R., Wong, C.S., Yan, Z., Zackai, E.H., Zaniew, M.   +81 more
core   +2 more sources

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Uterus didelphys with unilateral obstructed hemivagina with hematometrocolpos and hematosalpinx with ipsilateral renal agenesis

Journal of Human Reproductive Sciences, 2009
Uterus didelphys with blind hemivagina and ipsilateral renal agenesis (Herlyn Werner-Wunderlich Syndrome) is a rare congenital anomaly. It mostly presents with severe dysmenorrhea and a palpable mass due to unilateral hematocolpos.
Gaurav Jindal, Satish Kachhawa, G L Meena, Gopal Dhakar   +3 more
doaj   +1 more source

Absent ductus venosus: case series from two tertiary centres [PDF]

, 2018
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops.
Berghella V, Ciardulli A, Martinelli P, Maruotti GM, Mazzarelli LL, Saccone G   +5 more
core   +1 more source