Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates of perinatal mortality. We present a case report of prenatal diagnosis of PC at 22 weeks and 3 days of gestation. We emphasize the prenatal care follow up in a tertiary reference center, the parental counseling, the planning of delivery, and the management of newborn by a multidisciplinary team, including the description of immediate postnatal surgical repair.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538598 | PMC |
| http://dx.doi.org/10.21699/jns.v6i2.503 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Role of data-driven regional growth model in shaping brain folding patterns.
Soft Matter
January 2025
School of Environmental, Civil, Agricultural and Mechanical Engineering, College of Engineering, University of Georgia, Athens, GA 30602, USA.
The surface morphology of the developing mammalian brain is crucial for understanding brain function and dysfunction. Computational modeling offers valuable insights into the underlying mechanisms for early brain folding. Recent findings indicate significant regional variations in brain tissue growth, while the role of these variations in cortical development remains unclear.
View Article and Find Full Text PDFHydranencephaly in a Newborn: A Case Report and a Review of the Literature.
Cureus
December 2024
Neonatology, Souss Massa University Hospital Center, Agadir, MAR.
Hydranencephaly (HE) is a severe and isolated malformation affecting the cerebral mantle. In this condition, the cerebral hemispheres are entirely or almost entirely absent, replaced by a membranous sac filled with cerebrospinal fluid, while the midbrain is usually preserved. Although HE is a relatively rare brain disorder, the differential diagnosis must include conditions such as severe hydrocephalus, porencephalic cysts, and alobar holoprosencephaly.
View Article and Find Full Text PDFIniencephaly: A Challenging Prenatal Diagnosis of a Neural Tube Defect.
Cureus
December 2024
Gynecology and Obstetrics Department, Unidade Local de Saúde de Viseu Dão-Lafões, Viseu, PRT.
Iniencephaly is a rare malformation of the base of the cranium, with an almost always fatal prognosis. This condition is part of the category of defects related to neural tube closure. Prenatal diagnosis can now be performed through ultrasound evaluation, allowing timely counseling.
View Article and Find Full Text PDFA cross-sectional study of differences in medication for opioid use disorder receipt among pregnant people enrolled in Medicaid in Oregon, United States.
Addiction
January 2025
Center for Health Systems Effectiveness, Department of Emergency Medicine, Oregon Health and Science University, Portland, OR, USA.
Background And Aims: Medication is the gold standard to support a healthy pregnancy for pregnant people with opioid use disorder (OUD). This study measured inequities and differences in OUD medication treatment among pregnant people in Oregon, USA.
Design, Setting, Participants And Measurements: Our study population consisted of Medicaid enrollees across the US state of Oregon who had at least one live hospital birth between 2012 and 2020 and one diagnosis of OUD prenatally (n = 4363).
Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.
Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!