Results 131 to 140 of about 212,783 (242)
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Revista Colombiana de Obstetricia y Ginecología, 2010 Objetivo: el síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) es una malformación congénita del útero y la parte superior de la vagina en las mujeres que muestran características sexuales secundarias normales y cariotipo 46 XX.
Mario Arturo González-Mariño +1 more
doaj
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, EarlyView.ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani +17 more
wiley +1 more source
TULP4, a novel E3 ligase gene, participates in neuronal migration as a candidate in schizophrenia
CNS Neuroscience &Therapeutics, EarlyView., 2023 Mutations identified from four SCZ pedigrees resulted in decreased TULP4 expression. Tulp4 knockdown caused delayed neuron migration in embryonic mice, and impaired cognition and prepulse inhibition in adult mice. These phenotypes may be related to TULP4 through its involvement in the formation of a novel E3 ubiquitin ligases.
Yan Bi +19 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas +7 more
wiley +1 more source
Miomatosis uterina e infertilidad: ¿qué evidencias tenemos como causa y como tratamiento?
Revista Colombiana de Obstetricia y Ginecología, 2008 Objetivos: revisar las evidencias actuales que determinen el impacto de la miomatosis uterina en la infertilidad, así como la seguridad y la eficacia de las diferentes formas de tratamiento quirúrgico conservador.
Luis Ernesto Pérez +2 more
doaj
The Sooner, the Better: Neuroprotective Strategies in Fetuses With Congenital Heart Disease
Prenatal Diagnosis, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most frequent congenital malformation at birth and is associated with neurodevelopmental impairments. Alterations in cardiovascular physiology can lead to reduced cerebral blood perfusion and oxygenation, which negatively affects brain growth and maturation.
Maaike Nijman +7 more
wiley +1 more source
Sex Ratios at Birth Following Non‐Invasive Prenatal Testing in Victoria, Australia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Non‐invasive prenatal testing (NIPT) can determine fetal chromosomal sex early in pregnancy, raising the possibility of sex selection. However, current evidence regarding this practice is limited. Our objective was to assess the sex ratio at birth (SRB) among a cohort of infants born following NIPT from a single laboratory provider ...
Hilary Bowman‐Smart +6 more
wiley +1 more source
Tumor de células epitelioides perivascular (PEComa) uterino, un raro tumor
Acta Médica del Centro, 2017 Se trata de una paciente de 47 años de edad, de raza blanca, con antecedentes de ser sordo-muda y de retraso mental así como de padecer diabetes mellitus tipo 2 e hipertensión arterial esencial, para lo que lleva tratamiento.
Kenia González Valcárcel +9 more
doaj