Results 221 to 230 of about 423,772 (336)

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source

Hernia of the umbilical cord associated with type IIIa ileal atresia: A case report. [PDF]

Int J Surg Case Rep
Musa AD, Jarrar T, Abbasi AG, Younis A, Younis S, Awesat A.   +5 more
europepmc   +1 more source

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non‐lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.
H. Heinrich, D. Kunne, J. P. M. Derikx, E. van Leeuwen, I. H. Linskens, E. Pajkrt   +5 more
wiley   +1 more source

Prognostic Significance of Serial Ultrasonography in Placenta Accreta Spectrum and Its Impact on Perinatal Outcomes. [PDF]

Medicina (Kaunas)
Varthaliti A, Psarris A, Koutroumanis P, Gkiaourakis G, Daskalaki MA, Antsaklis P, Daskalakis G, Theodora M.   +7 more
europepmc   +1 more source

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Following the first French multicenter pilot study (AnDDI‐Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.
Charlène Daval, Nicolas Meunier‐Beillard, Eléonore Viora‐Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Ange‐Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quélin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie‐Line Jacquemont, Agnès Guichet, Camille Saldana, Anne‐Marie Guerrot, Alice Goldenberg, Caroline Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, Elodie Alexandre, Thierry Rousseau, Olivia Martz, Emilie Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, Frédéric Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin‐Robinet, Laurence Faivre   +39 more
wiley   +1 more source

Solitary infantile myofibromatosis presenting as multiple subcutaneous lesions: a case report. [PDF]

J Med Case Rep
Nazari H, Geravandi M.
europepmc   +1 more source

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

A Rare Case of Double True Umbilical Cord Knots With a Nuchal Cord: A Case Report. [PDF]

Cureus
Dygulski S, Lee RS, Lin M, Chawla N, Hui M, Sahabi S.   +5 more
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Diagnostic Accuracy of Estimated Fetal Weight Discordance in Predicting Birthweight Discordance in Monochorionic Twins: A Retrospective Cohort Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of sonographic estimated fetal weight discordance (EFWD) ≥ 20% in predicting birthweight discordance (BWD) ≥ 20% (i.e., selective fetal growth restriction [sFGR]) in monochorionic (MC) twin pregnancies.
Jip A. Spekman, E. J. T. Joanne Verweij, Femke Slaghekke, Monique C. Haak, Chiara C. M. M. Lap, Derek P. de Winter, Jeanine M. M. van Klink, Enrico Lopriore, Sophie G. Groene   +8 more
wiley   +1 more source