Results 1 to 10 of about 777 (91)

Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports. [PDF]

Prenat Diagn
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
Larissa LR, Felipe LL, Salvador JC, Manuel GJ, Jose RM, Angelica CD, Alejandra DCK, Lucia YA, Valeria MD, Jesús BH, Rosalba SM.   +10 more
europepmc   +2 more sources

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System. [PDF]

Mol Genet Genomic Med
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Carstens N, Mudau M, Essop F, Krause A.
europepmc   +2 more sources

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta-analysis. [PDF]

Acta Obstet Gynecol Scand
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Yao J, Wang Y, Li G, Zhang Z, Lv Y, Chen L.   +5 more
europepmc   +2 more sources

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia. [PDF]

Prenat Diagn
ABSTRACT Objectives Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non‐invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation.
Verebi C, Gravrand V, Guerini C, Anselem O, Vaucouleur N, Boimard LO, Ben Ouazzou R, Demirtas C, Leturcq F, Bienvenu T, Tsatsaris V, Pannier E, Nectoux J.   +12 more
europepmc   +2 more sources

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review. [PDF]

Prenat Diagn
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Valovičová K, Diderich KEM, Bramer WM, Lamballais S, Srebniak MI.   +4 more
europepmc   +2 more sources

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy. [PDF]

MedComm (2020)
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Song M, Liu X, Xiao Y, Li Y, Zhao H.
europepmc   +2 more sources

Variable Antenatal Sonographic Findings of Thanatophoric Dysplasia- A Case Series [PDF]

Journal of Clinical and Diagnostic Research, 2020
Thanatophoric dysplasia is a lethal osteochondral dysplasia which occurs sporadically in 1/64,000-100,000 total live births and it is very common of the congenital lethal skeletal dysplasias.
Richa Verma, Navneet Sharma
doaj   +1 more source

Thanatophoric Dysplasia: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat ...
Manisha Sharma, Jyoti, Rekha Jain, Devendra   +3 more
doaj   +1 more source

THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS

Неонатологія, хірургія та перинатальна медицина, 2023
Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FGFR3
І. Ластівка, А. Бабінцева, В. Анцупова, Л. Брішевац, О. Юрків, І. Малєєва   +5 more
doaj   +1 more source

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2). Case Report: A 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation
Chih-Ping Chen, Tung-Yao Chang, Ming-Huei Lin, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +5 more
doaj   +1 more source