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Trisomy 18 and the possibility of choice: The importance of Perinatal Hospice's support.
Eur J Pediatr
January 2025
Unit of Obstetrics and Gynecology, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.
Trisomy 18 is a severe aneuploidy associated with multiple malformations and a poor prognosis. The diagnosis is typically made prenatally, leading to a high rate of pregnancy terminations. The aim of this study is to demonstrate that even though the prognosis is heterogeneous, prolonged survival is possible and these children are an enrichment for their families after all.
View Article and Find Full Text PDF[Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
Fetal Isolated Single Umbilical Artery (ISUA) and Its Role as a Marker of Adverse Perinatal Outcomes.
J Clin Med
December 2024
Faculty of Medicine, University of Salamanca (USAL), 37007 Salamanca, Spain.
Single umbilical artery (SUA) is considered an ultrasound marker of anomalies. Although it may be present in about 0.5% to 6% of normal pregnancies, it has been linked with an increased risk of fetal growth restriction (FGR), as well as cardiac, genitourinary and gastrointestinal malformations and chromosomal anomalies such as trisomies 21 and 18.
View Article and Find Full Text PDFRole of copy number variation analysis in prenatally diagnosed Blake's pouch cyst.
BMC Pregnancy Childbirth
December 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.
Background: Blake's pouch cyst (BPC) is a midline cystic anomaly of the posterior fossa. BPC has been shown to have a risk of aneuploidy prenatally. Copy number variation (CNV) and/or genetic syndromes have been reported in a few prenatal/postnatal cases with BPC.
View Article and Find Full Text PDFAberrant right subclavian artery: the importance of distinguishing between isolated and non-isolated cases in prenatal diagnosis and clinical management.
J Perinat Med
December 2024
Obstetrics Service and Fetal Medicine Unit, Department of Obstetrics, Gynecology, and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain.
Objectives: This study aimed to evaluate the association of aberrant right subclavian artery (ARSA) with genetic abnormalities and postnatal symptomatology, by comparing isolated and non-isolated ARSA cases.
Methods: Retrospective, descriptive and comparative study involving fetuses diagnosed with ARSA during routine fetal ultrasound scans, between 19 and 40 weeks, in a tertiary referral university hospital in Barcelona from January 2007 to December 2023.
Results: Out of 154 fetuses diagnosed with ARSA, 75.
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