Results 121 to 130 of about 10,637 (245)

Hepatosplenomegaly Associated with Transient Abnormal Myelopoiesis in Down Syndrome: An Autopsy Case of a Stillborn Fetus

Case Reports in Oncology, 2015
A 38-year-old primiparous mother (gravida 1, para 0) at 27 weeks and 6 days' gestation reported that fetal movements had been absent for 6 days. All serological markers for infection were negative.
Michiko Yuki, Yuko Emoto, Yuichi Kinoshita, Katsuhiko Yoshizawa, Takashi Yuri, Airo Tsubura   +5 more
doaj   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches

Clinical Endocrinology, Volume 104, Issue 2, Page 92-102, February 2026.
ABSTRACT Background Mixed gonadal dysgenesis (MGD) is a rare form of differences in sex development (DSD) typically associated with 45,X/46,XY mosaicism. The phenotypic presentation of MGD varies from atypical genitalia to typical male or female appearances often associated with Turner stigmata.
Dinesh Giri, Sushil Yewale, Hannah Hickingbotham, Cara Williams, Mohamed Shalaby, Julie Alderson, Julie Park   +6 more
wiley   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Mosaic trisomy 5 in amniotic fluid in a live fetus with Ebstein anomaly and complete trisomy 5 in chorionic villus sampling. [PDF]

BMJ Case Rep, 2023
Andrade A, Cunha A, Teles N, Guedes-Martins L.   +3 more
europepmc   +1 more source

Increased nuchal translucency and decreased fetomaternal transfusion after chorionic villus sampling [PDF]

, 2003
János Sikovanyecz, Emese Horváth, Kornélia Wayda, J Gellén, Pál A, János Szabó   +5 more
openalex   +1 more source

KBG Syndrome: A Case Report and Longitudinal Assessment of Long‐Acting Recombinant Human Growth Hormone Therapy

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT This case analysis examines the clinical data, molecular genetic testing results, and 20‐month clinical data of long‐acting recombinant human growth hormone (rhGH) treatment in a child with KBG syndrome (KBGS). The child exhibited a c.1591delG frameshift mutation in the ANKRD11 gene associated with KBGS, a variant not previously reported ...
Hui Nan, Pu Zhang, Jing Qian
wiley   +1 more source

Triage and care for women with symptoms or diagnosis of pregnancy loss between 14 + 0 and 21 + 6 weeks' gestation

International Journal of Gynecology &Obstetrics, Volume 172, Issue 1, Page 25-50, January 2026.
Abstract Mid‐trimester pregnancy loss (MTL), defined as a pregnancy loss occurring between 14 + 0 and 21 + 6 weeks of gestation, causes significant physical and emotional distress to women and presents clinical challenges to healthcare professionals. It is acknowledged that in low‐resource settings, this guideline might be applicable to births up to 28 
Caroline E. Fox, Rosinder Kaur, Kugajeevan Vigneswaran, Rachel Small, Jenny Carter, Keelin O'Donoghue, Alexander E. P. Heazell, Anna L. David, Nigel Simpson, Angharad Care, Lisa Starrs, Andrew Shennan, Catalina María Valencia González, Priya Soma‐Pillay, Leah Fitzsimmons, Adam J. Devall, Arri Coomarasamy, Mid‐trimester Pregnancy Loss Guideline Consensus Panel, Owen Arthurs, Ruth Bender‐Atik, Phil Bennett, Kirstien Boelaert, Elizabeth Bonney, Leanna Brace, Naomi Carlisle, Davide Casagrandi, Manju Chandiramani, Carolyn Chiswick, Alexandra Emms, Stella Fielder, James Goadsby, Laura Goodfellow, Jim Gray, Jemma Johns, Emma Kirk, Will Lester, Sophie Mackay, Maria Memtsa, Katie Morris, Sunbal Mukhtar, Naimah Raza, Rita Sarquis, Neil Sebire, Lucy Smith, Lucy Spencer, Amos Tetteh, Natalie Woodhead   +46 more
wiley   +1 more source

Prenatal diagnosis of thalassemia [PDF]

, 2008
published_or_final_versio
Chan, V, Cheong, KB, Leung, KY, Tang, MHY   +3 more
core  

Foetal loss after chorionic villus sampling and amniocentesis in twin pregnancies: A multicentre retrospective cohort study. [PDF]

Prenat Diagn, 2022
Navaratnam K, Khairudin D, Chilton R, Sharp A, Attilakos G, Stott D, Relph S, Spencer R, Badr DA, Carlin A, Jani J, Kilby MD, Sebghati M, Khalil A, Alfirevic Z.   +14 more
europepmc   +1 more source

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang, Yanmei Sun, Haishen Tian, Xuedong Shi, Limin Rong, Yali Li   +5 more
wiley   +1 more source