Introduction And Aim: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations.
Method: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period.
Results: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35.26 ± 4.2 weeks and mean weight of 2408.67 ± 944.41g. In case of the 529 abortions the mean gestational age was 19.88 ± 2.53 weeks. Seventy-three fetuses were chromosomally abnormal, while 211 had multiple malformations. Prenatal ultrasound was highly sensitive in the detection of central nervous system and thoracic anomalies in utero (72.65% vs. 67.7% sensitivity). The detection rate was high in case of abdominal (59.58%), urogenital (54.55%), and limb/skeletal (50%) malformations as well. However, the diagnosis of face/neck anomalies was somewhat less efficient (31.85%).
Conclusions: In approximately half of the cases, postnatally diagnosed abnormalities coincided with the prenatally discovered congenital malformations. The results have confirmed that ultrasonography plays an important role in diagnosing malformations prenatally but it fails to detect all of the developmental abnormalities. Orv Hetil. 2017; 158(45): 1794-1801.
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http://dx.doi.org/10.1556/650.2017.30911 | DOI Listing |
Iran J Parasitol
January 2024
Center for Research of Endemic Parasites of Iran, Tehran University of Medical Sciences, Tehran, Iran.
is an intracellular parasite capable of crossing the placenta in pregnancy and infecting the developing fetus, leading to various congenital anomalies and even abortion. Acute infection is responsible for almost all cases of congenital toxoplasmosis in immunocompetent pregnant women. Prenatal screening for acute toxoplasmosis primarily involves maternal serology and fetal ultrasound imaging.
View Article and Find Full Text PDFPLoS One
December 2024
Specialized Neurological Practice, Neurological Office, Chrząstowice, Poland.
The study examines the morphometric development of the anterior cranial fossa in human fetuses and its clinical implications. The anterior cranial fossa, crucial for protecting the frontal lobes, was analyzed during prenatal development using innovative computer image processing techniques. We hypothesized that the growth of the anterior cranial fossa is not uniform throughout fetal development and that changing geometric relationships are important for possible therapeutic interventions in cases of congenital defects.
View Article and Find Full Text PDFMed Sci (Basel)
December 2024
Department of Perinatology, Ege University, İzmir 35000, Turkey.
Objective: This study aims to investigate the possible effects of gestational diabetes mellitus (GDM) on fetal heart structure and the relationship of this effect with maternal blood sugar control.
Materials And Methods: In this cross-sectional study, 19 women with GDM at 24-36 weeks of gestation (case group) and 21 healthy pregnant women at the same weeks of gestation (control group) were examined. Fetal heart structure was evaluated by ultrasonography; interventricular septum (IVS) thickness, right and left ventricular sphericity indices, global sphericity index (GSI) and cardio-thoracic ratio were also measured.
J Imaging
December 2024
Obstetrics and Gynaecology Unit, Department of Interdisciplinary Medicine (DIM), University of Bari, 70124 Bari, Italy.
This study aimed to evaluate our center's experience in diagnosing and managing placenta accreta spectrum (PAS) in a high-risk population, focusing on prenatal ultrasound features associated with PAS severity and maternal outcomes. We conducted a retrospective analysis of 102 high-risk patients with confirmed placenta previa who delivered at our center between 2018 and 2023. Patients underwent transabdominal and transvaginal ultrasound scans, assessing typical sonographic features.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Department of Pediatrics, Division of Pediatric Endocrinology, Yale School of Medicine, New Haven, CT 06510, USA.
46,XY sex reversal 11 (SRXY11) is a rare and recently identified form of 46,XY difference in sexual development (DSD), caused by variants in the DEAH-Box Helicase 37 gene (). is crucial for ribosome biogenesis, but its specific role in gonadal development remains unclear. The genital phenotype varies widely, ranging from typical female to typical male.
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