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Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFAdvances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFImmunomodulatory effect of efferocytosis at the maternal-fetal interface.
Cell Commun Signal
January 2025
Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1277 Jiefang Avenue, Wuhan, 430022, China.
Efferocytosis is a mechanism by which phagocytes efficiently clear apoptotic cells, averting their secondary necrosis and the subsequent release of potentially immunogenic or cytotoxic substances that can trigger strong immune and inflammatory responses. During efferocytosis, the metabolic pathways of phagocytes are transformed, which, along with the catabolism of apoptotic cargo, can affect their function and inflammatory state. Extensive apoptosis occurs during placental development, and some studies reported the immunomodulatory effects of efferocytosis at the maternal-fetal interface.
View Article and Find Full Text PDFThe fetal cerebral Doppler in the last weeks of pregnancy can select very small fetuses unlikely to present intrapartum compromise.
J Matern Fetal Neonatal Med
December 2025
Fetal Medicine Unit, St George's Hospital, London, UK.
Objective: To evaluate whether, in late pregnancy, the cerebral Doppler can identify very small fetuses that are less likely to experience intrapartum compromise (IC).
Material And Methods: This was a retrospective study of 282 singleton pregnancies that underwent an ultrasound scan at 32 + 0- 40 + 6 weeks and were delivered after induction, or spontaneous onset of labor. Very small fetuses were defined as fetuses with estimated weight less than the 3rd centile.
Prenatal ultrasound for the diagnosis of the cerebellar abnormalities: a meta-analysis.
J Matern Fetal Neonatal Med
December 2025
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Objective: Fetal cerebellar abnormalities are associated with neurodevelopmental disorders and structural brain malformations. Accurate and early diagnosis is crucial for prenatal counseling and planning postnatal interventions. While prenatal ultrasound is a key tool for detecting fetal brain abnormalities, variations in diagnostic accuracy across studies necessitate a systematic evaluation of its effectiveness in diagnosing cerebellar abnormalities.
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