Results 41 to 50 of about 2,246,140 (208)

Structural Control of Stromal‐Immune Coupling by COL24A1 Underlies Pregnancy Maintenance

Advanced Science, EarlyView.
COL24A1 emerges as a collagen‐associated regulator of maternal‐fetal interface homeostasis. Its deficiency promotes a maladaptive TIMP1‐high stromal state, impaired ECM turnover, collagen accumulation, and stromal–immune dysregulation, contributing to pregnancy loss.
Teng Wu, Lingling Xie, Wenyi Liu, Hanjie Mo, Chengshu Xie, Jing Tang, Zhaorui Wang, Peixuan Lan, Jianping Zhang, Jie Gao, Qionglan Tang, Chunwei Cao, Hui Chen   +12 more
wiley   +1 more source

Invasive Prenatal Diagnostics: A Cornerstone of Perinatal Management

Applied Sciences
Since the 1950s, invasive prenatal diagnostics have played an integral role in perinatal management. However, its significance extends beyond detecting genetic abnormalities.
Aleksy Świetlicki, Paweł Gutaj, Rafał Iciek, Karina Awdi, Aleksandra Paluszkiewicz-Kwarcińska, Ewa Wender-Ożegowska   +5 more
doaj   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Instruments for chorionic villus sampling for prenatal diagnosis. [PDF]

Cochrane Database Syst Rev, 2013
BackgroundChorionic villus sampling (CVS) is the method of choice for obtaining fetal tissue for prenatal diagnosis before 15 weeks of pregnancy. CVS can be performed using either a transabdominal or transcervical approach.
Young C, von Dadelszen P, Alfirevic Z.
europepmc   +2 more sources

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Review of chorionic Villus sampling in prenatal diagnosis

, 2004
Advances in biotechnology with the introduction of the ultrasound scan and the application of polymerase chain reaction has made fetal medicine an interesting field of study.
Emuveyan, E.E., Adewole, T.A., Akinde, J.A., Ibidapo, M.O., Oloyede, O.A.O   +4 more
core   +1 more source

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

Clinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung, Nicholas Ieronimakis, Bothaina Mousa, Emily D. Sheikh, Sarah E. Ligon, Joshua W. Monson, Jennifer R. Damicis, Hillary J. Kinsman, Lydia E. Bettridge, Samuel L.M. Arnold, Edward J. Kelly, Jashvant D. Unadkat, Joanne Wang   +12 more
wiley   +1 more source

Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing

Global Medical Genetics, 2022
Prenatal testing provides crucial information about the health status of fetuses as well as recommending better treatment. For the past decades, prenatal testing using chorionic villus sampling and amniocentesis were the two majorly used forms of ...
Lizzy Teleboshe Paul, Mahmut Cerkez Ergoren   +1 more
doaj   +1 more source

Advancing Pregnancy and Pediatric Science through the NIH Transporter Elucidation Network

Clinical Pharmacology &Therapeutics, EarlyView.
Human gestation is characterized by dynamic changes in maternal physiology and maturation of tissue functions before and after birth. The fetus and neonate are highly dependent upon transfer of maternal nutrients via the placenta and lactating mammary gland, which frequently involve selective membrane transporter proteins.
Joanne Wang, Jashvant D Unadkat, Samuel LM Arnold, John K Fallon, Pouria Fattahi, Dan Dongeun Huh, Nicholas Ieronimakis, Edward J Kelly, Svetlana Lutsenko, Robert M Stroud, Jacqueline B Tiley, Jia Yang, Xujia Zhou, Hao Zhu, Rajini Rao, Kathleen M Giacomini, Lauren M Aleksunes   +16 more
wiley   +1 more source