Background: Sepsis is extremely rare after invasive prenatal diagnosis.
Case: A patient, who had undergone amniocentesis at 15 weeks, cordocentesis at 20 weeks, and repeat cordocentesis 24 hours before presentation, was admitted at 21 weeks gestation with vaginal bleeding, rupture of membranes, and intrauterine demise. Although clinical and laboratory findings were unremarkable at presentation, she rapidly developed septic syndrome with disseminated intravascular coagulation and eventually multiple organ failure. The fetus was disintegrated and the uterus had to be removed. She was discharged from the intensive care unit after 34 days. Cultures of the uterine content grew Clostridium perfringens. Review of the literature revealed 10 more cases of sepsis after transabdominal prenatal diagnosis.
Conclusion: Sepsis after prenatal diagnosis can be devastating, unless promptly diagnosed and treated.
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http://dx.doi.org/10.1097/01.AOG.0000141650.01076.98 | DOI Listing |
Front Genet
January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
Methods: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates.
Orphanet J Rare Dis
January 2025
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and the application in twin pregnancies is blank. Here we provide a novel algorithmic approach to assess singleton and twin pregnancies in the first trimester.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Center for Fetal Medicine and Pregnancy, Department of Gynecology, Fertility, and Pregnancy, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Objective: To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.
Method: A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for "PRUV" in the conclusion field.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Cureus
December 2024
Pediatric Surgery, Panagiotis and Aglaia Kyriakou Children's Hospital, Athens, GRC.
Lymphatic malformation is a rare vascular anomaly caused by abnormal lymphatic system development during embryogenesis. Intra-abdominal lymphatic malformations are uncommon in children, and surgical excision is considered the gold standard for treatment. However, few reports of minimally invasive laparoscopic approaches have been documented.
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