Aim: Recurrent fetal loss is defined as the number of consecutive miscarriages which is not less than 2 occurred within the 16th week of gestation and it is a very interesting pathology of pregnancy. Further to thrombophilia, very important causes have been identified, since the damage of the vascular system supporting the placenta may cause a deficiency of placenta functions and development, leading to a loss of the conception product, also in a condition of hyperhomocystinemia, causing a damage to the vascular endothelium. Hyperhomocystinemia seems to be a risk factor for artero-venous thrombotic diseases, even not in pregnancy.
Methods: We have examined 40 patients referred to our Institute for unexplained fetal loss (at least 2 consecutive miscarriages within the 16th week of gestation) and the same number of patients who had at least 1 spontaneous delivery with a healthy and alive newborn and none abortion nor fetal death nor abruptio placentae.
Results: The mean levels of homocystinemia observed were significantly different in the 2 groups (p = or < 0.05). In the control group the values of plasmatic homocysteine were 10+/-4 micromol/L, corresponding to normal range, while in the other group the values of plasmatic homocysteine were 21+/-6 micromol/L, values certainly elevated, also because during the 1st trimester of pregnancy the levels of homocysteine decrease, reaching the lowest value during the 2nd trimester of pregnancy. In particular, high levels of homocysteine have been found in 25% (10) of women with unexplained early fetal loss.
Conclusion: Hypercystinemia, as a consequence of an interaction between a primary genetic defect and a nutrition condition (folate deficiency), may be a cause of recurrent miscarriages. Therefore, in these cases, a possible hypercystinemia should be searched and an association of folic acid and vitamin B6, a non teratogenic treatment, should be useful to restore the metabolic picture and to favour the pregnancy outcome.
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J Matern Fetal Neonatal Med
December 2025
Director of Global Academy of Medical Education & Training, London, UK.
Background: Placenta Accreta Spectrum (PAS) disorders has been reported to be associated with a maternal mortality rate of 7-10%, worldwide, and many women who survive, experience life changing morbidity. Triple P procedure (- perioperative placental localization and incision on the myometrium above the upper border of the placenta; - pelvic devascularisation; and -placental non-separation and myometrial excision) was developed in 2010 as a novel conservative alternative to peripartum hysterectomy to avoid severe maternal morbidity and mortality). There have been several modifications to the original Triple P Procedure to achieve "pelvic devascularisation" based on locally available resources.
View Article and Find Full Text PDFDev Cell
January 2025
Division of Vascular Oncology and Metastasis, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany; European Center for Angioscience (ECAS), Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany. Electronic address:
The labyrinthian fetoplacental capillary network is vital for proper nourishment of the developing embryo. Dysfunction of the maternal-fetal circulation is a primary cause of placental insufficiency. Here, we show that the spatial zonation of the murine placental labyrinth vasculature is controlled by flow-regulated epigenetic mechanisms.
View Article and Find Full Text PDFOphthalmol Ther
January 2025
Pediatric Ophthalmology and Strabismus Division, King Khaled Eye Specialist Hospital, Al Urubah Branche Rd., West Building 2nd Floor, 11462, Riyadh, Saudi Arabia.
Introduction: Persistent fetal vasculature (PFV) is a congenital anomaly associated with significant surgical challenges, including a high risk of postoperative retinal detachment (RD). This study aimed to evaluate the impact of surgical approach and axial length (AL) on RD risk and visual outcomes in pediatric PFV management.
Methods: A retrospective cohort study was conducted involving 76 eyes of 74 patients who underwent cataract surgery for PFV between 2014 and 2022.
J Exp Med
February 2025
Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Imagine Institute, University Paris Cité, Paris, France.
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement syndrome in humans, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and causes combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like features.
View Article and Find Full Text PDFTunis Med
January 2025
Department of embryo-fetopathology, La Rabta Maternity and Neonatology Center, El Manar II University, 1007 Tunis, Tunisia.
Introduction: Anencephaly is a serious developmental defect of the central nervous system in which the brain and cranial vault are grossly malformed. The cerebrum and cerebellum are reduced or absent, but the hindbrain is present. Anencephaly is a part of the neural tube defect spectrum.
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