Results 141 to 150 of about 18,846 (258)

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Holocarboxylase synthetase deficiency is an autosomal recessive inborn error of metabolism characterised by life‐threatening metabolic acidosis, ketoacidosis and hyperammonaemia through reduced biotin‐dependent carboxylase activity. We report the presentation of a Polynesian neonate with severe metabolic acidosis secondary to holocarboxylase ...
Sophie Manoy, Claire Murray, Matthew Lynch, Tahlee Minto, Kelvin Choo, Carolyn Bursle, Michelle Lipke, Jim McGill, Anita Inwood, David Coman   +9 more
wiley   +1 more source

LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy. [PDF]

J Assist Reprod Genet, 2021
Vasilyev SA, Tolmacheva EN, Vasilyeva OY, Markov AV, Zhigalina DI, Zatula LA, Lee VA, Serdyukova ES, Sazhenova EA, Nikitina TV, Kashevarova AA, Lebedev IN.   +11 more
europepmc   +1 more source

Combining Detailed Fetal Anatomy Scanning in the NT Window Versus Early Second Trimester Scanning at 14–16 Weeks

Journal of Ultrasound in Medicine, Volume 45, Issue 1, Page 105-113, January 2026.
Objectives First‐trimester ultrasound has evolved to incorporate a detailed fetal anatomy scan (FAS) with nuchal translucency (NT) screening. Many institutions use a 2‐visit protocol: NT followed by detailed FAS at 14–16 weeks. We aimed to evaluate whether integrating detailed FAS into the NT window (12 + 5 to 13 + 6 weeks) is non‐inferior in ...
Tomer Shwartz, Sarah M. Cohen, Michal Lipschuetz, Hila Hochler, Yaron Zalel, Dan V. Valsky, Simcha Yagel   +6 more
wiley   +1 more source

MORPHOLOGICAL FEATURES OF PLACENTAS IN PREGNANCIES WITH FETAL GROWTH RESTRICTION SYNDROME

Паёми Сино
Objective: To present the morphological features of placentas in pregnancies with hypertension and fetal growth restriction syndrome (FGRS) Methods: Eighty-six placentas in pregnancies with FGRS on the background of arterial hypertension are examined.
N.A. MURATNAZAROVA
doaj   +1 more source

Placental Circulation [PDF]

, 1972
One of the most important developments of recent years in the field of uterine physiology has been the recognition that the endometrial changes occurring during the menstrual cycle and those associated with pregnancy are interlocking, sequential events ...
Ramsey, Elizabeth M.
core   +1 more source

A Practical Approach to Incorporating the Detailed First Trimester Ultrasound Examination Into Clinical Practice

Journal of Ultrasound in Medicine, Volume 45, Issue 1, Page 193-199, January 2026.
Tremendous advances in ultrasound equipment and knowledge have expanded possibilities for the first trimester detailed ultrasound examination. Recommendations from national organizations to offer this service to patients with indications, coupled with recent modifications for dual use of the current procedural terminology code 76811 during pregnancy ...
Reem S Abu‐Rustum, Erica Smith, Kam Szlachetka, Oxana M Zarudskaya   +3 more
wiley   +1 more source

Neonatal foal death due to infection with equine arteritis virus in Belgium [PDF]

, 2009
This case report describes a small outbreak of neonatal foal death in Belgium due to infection with equine arteritis virus (EAV). The outbreak started with one foal suffering from acute dyspnea four days after birth.
Chiers, Koen, Ducatelle, Richard, Govaere, Jan, Gryspeerdt, Annick, Nauwynck, Hans, Van de Walle, Gerlinde, Vercauteren, Griet   +6 more
core  

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Prenatal 7q11.23 CNVs exhibit 100% ultrasound anomalies in deletions (cardiovascular defects, growth restriction) and 50% in duplications. Inherited CNVs (50% deletions, 43% duplications) correlate with milder outcomes, while de novo variants drive high TOP rates (76.5%), emphasizing genomic testing and parental studies for precise counseling. ABSTRACT
Jiong Yan, Ziyang Liu, Song Yi, Nian Liu
wiley   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions

Prenatal Diagnosis, Volume 46, Issue 1, Page 3-11, January 2026.
ABSTRACT Objective We describe a series of pregnancies with autosomal dominant lymphedema and generalized lymphatic dysplasia in the fetus diagnosed with prenatal exome or genome sequencing. We focus on specific syndromes, fetal features, and parental symptoms to deepen our understanding of congenital lymphatic anomalies.
Sara G. Vargo, Daniella Rogerson, Patrick Devine, Jessica Van Ziffle, Teresa N. Sparks   +4 more
wiley   +1 more source