Results 71 to 80 of about 423,772 (336)

Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

Taiwanese Journal of Obstetrics & Gynecology, 2008
Prenatal screening with α-fetoprotein (AFP) and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs) in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern ...
Chih-Ping Chen
doaj   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Necrotizing funisitis and calcification of umbilical vein: case report and review

BMC Pregnancy and Childbirth, 2021
Background Necrotising funisitis (NF) is a rare, chronic stage of funisitis, a severe inflammation of the umbilical cord and an important risk factor for fetal adverse outcomes.
Wendi Wang, Miao Zhang, Liyun Gong, Qingqing Wu   +3 more
doaj   +1 more source

Ultrassonografia tridimensional STIC-HDlive no modo de superfície: nova técnica para avaliação do coração fetal [PDF]

, 2013
Universidade Federal de São Paulo (UNIFESP) Department of ObstetricsUNIFESP, Department of ...
Araujo Júnior, Edward, Moron, Antonio Fernandes, Nardozza, Luciano Marcondes Machado   +2 more
core   +2 more sources

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter, Richard Hastings, Nicola Enoch, Samantha Flynn, Matthew Randell, Chris Stinton   +5 more
wiley   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Ultra-sonografia pré-natal no diagnóstico de aneurisma da veia de Galeno.

Acta Médica Portuguesa, 2010
Vein of Galen aneurysm is a rare congenital anomaly, originated from a defect in fusion of internal cerebral veins. Due to low resistance, it produces high debit cardiac insufficiency.
Lizarda Félix, Alex Rolland Souza, Ana Patrícia Queiroz, Carolina Diniz, Marcelo Lima, Roberta Espínola Santos, Alexandre S Cardoso   +6 more
doaj   +1 more source

Effectiveness of routine third trimester ultrasonography to reduce adverse perinatal outcomes in low risk pregnancy (the IRIS study): nationwide, pragmatic, multicentre, stepped wedge cluster randomised trial [PDF]

, 2019
Objectives To investigate the effectiveness of routine ultrasonography in the third trimester in reducing adverse perinatal outcomes in low risk pregnancies compared with usual care and the effect of this policy on maternal outcomes and obstetric ...
Bais, JMJ, Bonsel, GJ, Bosmans, JE, de Jonge, A, de Kroon, ML, De Reu, P, de Roon-Immerzeel, A, Franx, A, Grobman, WA, Groen, H, Grp, IRISS, Henrichs, J, Hukkelhoven, CWPM, Jellema, P, Klomp, T, Kok, M, Kruijt, M, Kwee, A, Lafeber, HN, Ledda, S, Mol, BW, Molewijk, B, Nieuwenhuijze, M, Oei, G, Oudejans, C, Paarlberg, KM, Pajkrt, E, Papageorghiou, AT, Reddy, UM, Rijnders, M, Scheele, C, Scherjon, SA, Snijders, R, Spaanderman, ME, Teunissen, PW, Torij, HW, van Baar, AL, van der Horst, HE, van Dillen, J, van Duijnhoven, NTL, van Lith, JMM, Verfaille, V, Viester, L, Vrijkotte, TG, Westerneng, M, Wilschut, J, Zeeman, KC, Zhang, JJ   +47 more
core   +5 more sources

Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases

Frontiers in Genetics, 2021
Background: Skeletal dysplasias (SDs) are a heterogeneous group of genetic disorders that primarily affect bone and cartilage. This study aims to identify the genetic causes for fetal SDs, and evaluates the diagnostic yield of prenatal whole-exome ...
Ying Peng, Shuting Yang, Xiaoliang Huang, Jialun Pang, Jing Liu, Jiancheng Hu, Xinzhao Shen, Chengyuan Tang, Hua Wang   +8 more
semanticscholar   +1 more source