Results 81 to 90 of about 4,684 (217)

Prenatal management of disorders of Sex development [PDF]

, 2012
Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues.
Aigrain, Y. (Yves), Chatelain, P. (Pierre), Chitty, L. (Lyn), Wolffenbuttel, K.P. (Katja)   +3 more
core   +3 more sources

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

An Unusual Case of Citrobacter koseri Infection During Pregnancy at 27 Weeks: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Early prenatal screening at 26 + 6 weeks detected Citrobacter koseri vaginal colonization in an asymptomatic high‐risk gravida. Culture‐guided IV ceftazidime (susceptible per CLSI testing) eradicated the pathogen without maternal/fetal compromise.
Mario Assenza, Michele Caramia, Jacopo Wabersich   +2 more
wiley   +1 more source

Single‐cell‐based non‐invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 4, Page 500-509, April 2026.
ABSTRACT Objective Pathogenic or likely pathogenic copy‐number variants (p/lpCNVs) are a significant cause of perinatal morbidity and mortality. Current prenatal screening based on cell‐free DNA (cfDNA) fails to detect the majority of microimbalances (microdeletions/microduplications), leaving a significant residual risk of undetected chromosomal ...
T. Stampalija, C. Forcato, F. R. Grati, P. Volpe, V. De Robertis, C. Izzi, E. Bertucci, I. Fabietti, A. Novelli, S. Ornaghi, L. Pasquini, E. Bevilacqua, D. Paladini, T. Ghi, D. Lattuada, M. Dori, D. Mercatelli, A. Dal Molin, G. Buson, C. Bolognesi, A. Doffini, T. J. Musci, E. Ferrazzi, Collaborators, Emilia Dora Giovannone, Chiara Mangano, Chiara Maranta, Camilla Amadesi, Antonio Brocco, Arianna Casadei, Melissa Garrì, Rebecca Maiocchi, Ilaria Molinaro, Elisa Ortolan, Angela Piano, Maria Chiara Iannitiello, Davide Lisi, Agnese Feresin, Paolo Gasparini, Camilla Fregona, Georgios Rembouskos, Franco Edoardo Odicino, Marino Signorelli, Alessandra Sponzilli, Fabio Facchinetti, Chiara Vassallo, Elena Nicastri, Maria Grazia Di Gregorio, Valeria Orlando, Sabrina Cozzolino, Maria Verderio, Giulia Masini, Chiara Franchi, Francesco Danilo Tiziano, Domizia Pasquetti, Giulia Biancotto, Francesca Della Sala, Nicola Volpe, Andrea Dall'Asta, Rosamaria Silipigni, Ilaria Catusi   +60 more
wiley   +1 more source

Stakeholder attitudes and needs regarding cell-free fetal DNA testing [PDF]

, 2016
PURPOSE OF REVIEW: To explore stakeholder views on cell-free DNA testing and highlight findings important for successful implementation and the provision of best practice in counseling.
Chitty, LS, Hill, M, Lewis, C
core   +1 more source

Placental insufficiency markers to assess the risk of non‐chromosomal genetic conditions in early‐onset fetal growth restriction

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 4, Page 492-499, April 2026.
ABSTRACT Objectives To assess the value of placental insufficiency markers for estimating the risk of genetic anomalies in fetuses with isolated early‐onset fetal growth restriction (FGR), defined as an estimated fetal weight ≤ 3rd percentile diagnosed ≤ 28 + 6 weeks' gestation.
M. Armengol‐Alsina, E. Bonacina, M. Dalmau, J. Temprado, I. Valenzuela, M. Codina‐Solà, M. Viñas‐Jornet, C. Rodó, M. Mendoza, Collaborators, A. Casellas, E. Del Barco, A. Brox, M. San Jose, P. Diaz, E. Roldán, B. Serrano, N. Maiz   +17 more
wiley   +1 more source

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Clinical Case Reports, 2019
We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation.
Luigia De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile, Raffaella Ruggiero, Pasquale Savarese, Antonio Fico   +6 more
doaj   +1 more source

Non invasive prenatal testing for single gene disorders:Exploring the ethics [PDF]

, 2012
Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy.
A de Jong, A Hall, A Sommerville, A van den Heuvel, AJ Newson, AN Barrett, B Heyman, B Modell, BA Bernhardt, C Baillie, C Lewis, C Lewis, C Meaney, Celine Lewis, E Dormandy, E Garcia, F Mujezinovic, FL Raymond, FM Lun, FM Lun, H Skirton, HC Fan, J Garcia, J Hodgson, J Narveson, JC Sapp, KM Finning, KT Maliszewski, L Henneman, L Kooij, L Locock, LC Sayres, LS Chitty, Lyn S Chitty, M Berkenstadt, M Hill, M Hill, M Hill, M McAllister, M Nicol, M van den Berg, Melissa Hill, N Press, NB Tsui, O O’Neil, PA Benn, R Chadwick, R Favre, R Rapp, S Galbiati, S Sherwin, SA Metcalfe, SE Kelly, SE Kelly, T Beauchamp, T Lau, TM Marteau, V Bot-Robin, V Seavilleklein, V Tsianakas, V Tsianakas, Y Lo, YM Lo, YM Lo, Z Deans, Zuzana Deans   +65 more
core   +2 more sources

Discomfort in the Unexpected: A Mixed‐Methods Study on Australian Clinicians' Experiences of Explaining Prenatal Screening Results

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 66, Issue 2, April 2026.
ABSTRACT Background Expectant parents report negative experiences of receiving prenatal screening outcomes that indicate a higher‐than‐expected risk of a genetic condition or anomaly—an unexpected result. Despite clinicians' key role in delivering prenatal screening results, there is limited research on their perspectives regarding their own ...
Mark B. Anderson, Emma Cooke, Karen Thorpe, Jasneek K. Chawla   +3 more
wiley   +1 more source

Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy. [PDF]

, 2015
Non-invasive prenatal testing (NIPT) using cell-free DNA for aneuploidy is a highly accurate screening test; however, concerns exist around the potential for routinisation of testing.
Chitty, LS, Hill, M, Lewis, C, Skirton, H   +3 more
core   +1 more source