Results 231 to 240 of about 146,711 (318)

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices. [PDF]

Thromb J
Safdari SM, Bakhtiyaridovvombaigi M, Damerchiloo F, Jaafarian AS, Samani FA, Safa M, Tabibian S.   +6 more
europepmc   +1 more source

Fetal Heart Rate at 12 Weeks' Gestation and the Risk of Preterm Birth

Journal of Ultrasound in Medicine, EarlyView.
Objectives To prospectively validate the association between fetal heart rate (FHR) at the 12‐week scan and the risk of preterm birth (PTB), including spontaneous preterm birth (sPTB). Methods This prospective cohort study included 1276 singleton pregnancies undergoing routine first‐trimester screening at 11–13 + 6 weeks' gestation and followed until ...
José Morales‐Roselló, Alicia Soriano‐Payá, Blanca Novillo‐Del Álamo, Alicia Martínez‐Varea   +3 more
wiley   +1 more source

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis. [PDF]

Appl Clin Genet
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A.   +9 more
europepmc   +1 more source

Feasibility and Reproducibility of a Structure‐Guided Deep Learning Model for Automatic Detection of the Standard Sagittal Plane in First‐Trimester Nuchal Translucency Assessment Using 3D Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives Accurate nuchal translucency (NT) measurement for assessing the risk of fetal genetic abnormalities requires precise acquisition of the mid‐sagittal plane (MSP). However, achieving an appropriate MSP is technically challenging due to anatomical variability and operator dependence inherent in conventional 2‐dimensional (2D) ultrasound.
Hayan Kwon, Hyewon Hur, Hyun Cheol Cho, Yun ji Jung, Suhra Kim, Ja‐Young Kwon   +5 more
wiley   +1 more source

A unique case of prenatal diagnosis of vascular Ehlers-Danlos syndrome. [PDF]

Int J Gynaecol Obstet
Bertucci E, Ceffa S, Giovanna S, Gnazzo M, Novelli A, La Marca A.   +5 more
europepmc   +1 more source

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

JEADV Clinical Practice, EarlyView.
ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark, Parith Wongkittichote, Sanchawan Wittayakornrerk   +2 more
wiley   +1 more source

Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis. [PDF]

Int J Womens Health
Chen S, Liang B, Lin N, Pan M, Li L.
europepmc   +1 more source

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis. [PDF]

Ultrasound Obstet Gynecol
Stampalija T, Forcato C, Grati FR, Volpe P, De Robertis V, Izzi C, Bertucci E, Fabietti I, Novelli A, Ornaghi S, Pasquini L, Bevilacqua E, Paladini D, Ghi T, Lattuada D, Dori M, Mercatelli D, Dal Molin A, Buson G, Bolognesi C, Doffini A, Musci TJ, Ferrazzi E, Collaborators.   +23 more
europepmc   +1 more source