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Maternal and Fetal Complications in Pregnant Women with Neurofibromatosis Type 1: Literature Review and Two Case Reports.
J Clin Med
January 2025
"Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.
View Article and Find Full Text PDFAmniocentesis is a widely used invasive prenatal diagnostic procedure, recognized for its high sensitivity and low risk of complications. This study aims to evaluate the association between amniocentesis and pregnancy outcomes, such as miscarriage, preterm rupture of membranes (PROM), and preterm birth, as well as perinatal outcomes. A case-control study was conducted at the Regional Hospital in Kielce, Poland, from 2016 to 2022, involving 1834 patients, 225 of whom underwent amniocentesis, while 1609 did not receive any invasive diagnostics.
View Article and Find Full Text PDFPrenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.
Medicina (Kaunas)
January 2025
Department of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute for Mother and Child Health, 20382 Bucharest, Romania.
Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS.
View Article and Find Full Text PDFPredictive Value of First Amniotic Sac IL-6 and Maternal Blood CRP for Emergency Cerclage Success in Twin Pregnancies.
J Pers Med
January 2025
Department of Obstetrics and Gynecology, La Fe University and Polytechnic Hospital, 46026 Valencia, Spain.
To assess the usefulness of first amniotic sac Interleukin-6 (IL-6) to rule out intra-amniotic inflammation (IAI), as well as maternal blood c-reactive protein (CRP), to select patients with a twin pregnancy who may benefit from an emergency cerclage. : Retrospective, descriptive study among all patients with a twin pregnancy and mid-trimester bulging membranes admitted to a tertiary Hospital from January 2012 to September 2023. According to the Hospital's Protocol, all patients received a vaginal and abdominal ultrasound, a maternal blood test, and an amniocentesis of the first sac to rule out IAI, defined by IL-6 ≥ 2.
View Article and Find Full Text PDFIncidental Diagnosis of Occult Maternal Malignancy With Routine Noninvasive Prenatal Testing During Pregnancy.
Cureus
December 2024
Maternal Fetal Medicine, Michigan State University College of Human Medicine/Corewell Health, Grand Rapids, USA.
The noninvasive prenatal test (NIPT) for genetic screening has been adopted globally as an alternative to first-trimester and quad screening due to its high sensitivity and specificity. NIPT involves detecting and processing foreign fetal DNA in maternal circulation to screen for fetal aneuploidy. An incidental consequence of this process is the detection of foreign tumor cell DNA in maternal circulation in otherwise asymptomatic patients.
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