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How I use noninvasive prenatal testing for red blood cell and platelet antigens.
Blood
December 2024
Sanquin, Amsterdam, Netherlands.
Alloimmunization during pregnancy occurs when a mother produces antibodies against fetal antigens, leading to complications like hemolytic disease of the fetus and newborn (HDFN) and fetal and neonatal alloimmune thrombocytopenia (FNAIT). HDFN involves destruction of fetal red blood cells, potentially causing severe anemia, hydrops fetalis, and fetal death. FNAIT affects fetal platelets and possibly endothelial cells, resulting in risk of intracranial hemorrhage and brain damage.
View Article and Find Full Text PDFCranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.
Prenat Diagn
January 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.
Application of third-generation sequencing technology in the genetic testing of thalassemia.
Mol Cytogenet
December 2024
Prenatal Diagnostic Center, Medical Genetics Center, Department of Obstetrics and Gynaecology, The Seventh Affiliated Hospital of Sun Yat-sen University, 628 Zhenyuan Rd., Guangming Dist., Shenzhen, China.
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China.
View Article and Find Full Text PDFParvovirus B19 infection in children: a comprehensive review of clinical manifestations and management.
Ital J Pediatr
December 2024
Department of Pediatrics, Santa Maria delle Croci Hospital, AUSL della Romagna, Viale Vincenzo Randi, 5, Ravenna, Ravenna, 48121, RA, Italy.
Parvovirus B19 (B19V) is a significant pathogen responsible for a wide range of clinical manifestations, particularly in children and pregnant women. While B19V is most commonly recognized as the cause of Fifth disease, a mild erythematous illness in children, its clinical impact extends far beyond this condition. B19V can lead to severe complications, including transient aplastic crisis in individuals with chronic hemolytic anemias, arthralgia, and more severe joint diseases.
View Article and Find Full Text PDFThe First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.
Hemoglobin
December 2024
Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, Guangxi Zhuang Autonomous Region, China.
In southern China, α-thalassemia is the most prevalent hereditary monogenic disorder, and deletion variants are the predominant form. Conventional thalassemia diagnosis techniques are numerous, however they are all limited in their ability to detect rare deletions. Here, we discuss a family who sought genetic counseling during their fourth pregnancy after experiencing Hb Bart's hydrops fetalis in two of their previous pregnancies.
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