Although originally described to assist airway management of fetal congenital malformations with life-threatening airway obstruction, the indications for an ex utero intrapartum treatment (EXIT) have expanded to include surgical resection of lesions that are potentially incompatible with life in the absence of uteroplacental circulatory support. We describe the case of an infantile fibrosarcoma (IFS) that presented with fetal hydrops and was successfully managed with an emergency EXIT that necessitated the initiation of a massive fetal blood transfusion both with and without the support of uteroplacental circulation.
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http://dx.doi.org/10.1213/XAA.0000000000001050 | DOI Listing |
Transfus Apher Sci
December 2024
Department of Maternal and Child Health and Urological Sciences, Umberto I Hospital, "Sapienza" University of Rome, Viale del Policlinico 155, Rome 00161, Italy. Electronic address:
The pregnancy of a patient with homozygous familial hypercholesterolemia (HoFH) represents a challenge in the clinical setting due to the high cardiovascular risk of the mother and maternal-fetal morbidity. The lipid lowering drugs are generally contraindicated and lipoprotein apheresis (LA) is the only accepted treatment in HoFH pregnant woman. Liposorber D, an LA technique on whole blood, has good efficacy, safety, and short operative time.
View Article and Find Full Text PDFJ Perinat Med
December 2024
Fetal Care and Surgery Center (FCSC), Division of Fetal Medicine and Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Monochorionic twin pregnancies are a subset of twin pregnancies that face potential complications related to a shared circulation between the fetuses. These complications are related to anastomotic placental vessels connecting the cardiovascular systems of the two fetuses, which can result in significant sequela if one twin experiences intrauterine death. The sudden cardiovascular collapse in this scenario leads to a massive blood shift away from the healthy co-twin, significantly jeopardizing its life and long-term neurodevelopmental outcome.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Key Laboratory of Precision Medicine and Testing of Wenzhou City, Clinical Laboratory of Wenzhou Central Hospital, Wenzhou, Zhejiang 325000, China.
Objective: To explore the clinical phenotype and genetic characteristics of two siblings with intellectual disability.
Methods: Clinical data and peripheral blood samples were collected from the proband, his younger sister and parents whom had presented at Wenzhou Central Hospital in February 2024. Low-coverage massively parallel copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were carried out for the family.
Case Rep Womens Health
December 2024
Department of Obstetrics and Gynecology, Faculty of Medicine, Airlangga University, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
Systemic lupus erythematosus (SLE) is an autoimmune multisystem disease. Pericarditis in SLE can lead to severe effusion and cardiac tamponade, and is associated with significant morbidity and mortality. Therefore, early diagnosis and treatment are essential.
View Article and Find Full Text PDFHum Genome Var
December 2024
Department of Genetic Counseling, Asahikawa Medical University Hospital, 2-1-1-1 Midorigaoka-Higashi, Asahikawa, Hokkaido, Japan.
We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.
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