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Prenatal diagnosis of achondroplasia in primary care settings - Recognising the soft markers: A case report.
Malays Fam Physician
November 2024
MBBS, MMed (Radiology), Department of Radiology, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Achondroplasia, a genetic disorder causing limb shortening, is the most common form of disproportionate dwarfism. It can be diagnosed prenatally through sonographic findings and postnatally through clinical and radiological findings. Currently, an increasing number of affected foetuses are diagnosed antenatally since prenatal ultrasonography is routinely conducted in primary care settings.
View Article and Find Full Text PDFPrediction of perinatal mortality in early-onset fetal growth restriction: A post hoc analysis of the Dutch STRIDER trial to predict perinatal mortality in early-onset fetal growth restriction.
Eur J Obstet Gynecol Reprod Biol
January 2025
Amsterdam UMC Location University of Amsterdam, Department of Obstetrics and Gynecology, Meibergdreef 9, Amsterdam, The Netherlands; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Article Synopsis
- Early-onset fetal growth restriction affects roughly 0.3% of pregnancies and is linked to increased risks such as early-onset pre-eclampsia, with the aim of improving predictions for perinatal mortality.
- This analysis examined data from 215 pregnant women with severe early-onset fetal growth restriction, utilizing logistic regression to identify predictors of perinatal mortality.
- Key predictors of perinatal mortality included fetal abdominal circumference, gestational age at diagnosis, estimated fetal weight, and umbilical artery measurements; the treatment randomization did not influence mortality risk.
Prenatal detection of placenta accreta spectrum using a sonographic checklist.
Acta Obstet Gynecol Scand
October 2024
Department of Fetal Medicine, National Maternity Hospital, Dublin, Ireland.
Article Synopsis
- The study evaluates a proposed ultrasound checklist for detecting placenta accreta spectrum (PAS) in patients with a high likelihood of the condition, aiming to see how effective it is in identifying confirmed PAS cases.
- Conducted over five years, the research included patients who had ultrasound assessments for PAS suspicion, with diagnoses confirmed through surgical and histopathological findings.
- Results showed an 80.7% PAS diagnosis among participants, with the third-trimester ultrasound displaying a sensitivity of 84% and specificity of 73%, highlighting key ultrasound features—abnormal placental lacunae and myometrial thinning—as strongly associated with PAS.
Health professionals' experiences and views on obstetric ultrasound in Victoria, Australia: A cross-sectional survey.
Aust N Z J Obstet Gynaecol
September 2024
Judith Lumley Centre, School of Nursing & Midwifery, La Trobe University, Melbourne, Victoria, Australia.
Background: Obstetric ultrasound is an important tool, aiding in screening, diagnosis, and surveillance throughout pregnancy.
Aims: To explore obstetric doctors', midwives', and sonographers' experiences and views of obstetric ultrasound in Victoria, Australia. To investigate the increasing role of obstetric ultrasound for clinical management, and the adequacy of resources and training for appropriate use of ultrasound in clinical management.
Antenatal unilateral upper limb acromesomelic dysplasia.
J Ultrasound
September 2024
Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital (IGMC), Shimla, Himachal Pradesh, 171001, India.
Acromesomelic dysplasia (AMD) is an umbrella term given to a heterogeneous group of progressive skeletal disorders characterized by short limbed dwarfism associated with disproportionate shortening of middle and distal segments of the upper as well as lower limbs. Although specific skeletal anomalies are difficult to diagnose antenatally, but because of their antenatal and postnatal implications and a possibility of reoccurrence in following pregnancies, such skeletal anomalies need to be actively addressed. A combination of radiologic, pathologic, genetic and molecular investigation prenatally as well as postnatally is required to classify a specific congenital skeletal dysplasia.
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