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Cartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathoge...

Abstract Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible b...

Abstract Background Isodicentric Y chromosomes [idic(Y)] are frequently detected in patients with disorders of sex development (DSDs). However, prenatal cases are rarely reported. We performed comprehensive prenatal diag...

Materias / palabras clave: Diagnóstico prenatal; Prenatal diagnosis

Materias / palabras clave: Tecnología reproductiva humana; Derecho y legislación; España; Fertilización humana in vitro; Médicos; Negligencia; Errores médicos; Diagnóstico prenatal; Human reproductive technology; Law and legislation; Spain;...

Materias / palabras clave: Newborn infants; Metabolism; Prenatal diagnosis; Niños recién nacidos; Diagnóstico prenatal

Materias / palabras clave: Degeneración hepatolenticular; Diagnóstico prenatal; Hepatolenticular degeneration; Prenatal diagnosis

Materias / palabras clave: Prenatal diagnosis; Moral and ethical aspects; Torts; Medicina preventiva; Responsabilidad

A malformação adenomatóide cística fetal consiste em anomalia do desenvolvimento pulmonar, proveniente de crescimento anormal dos bronquíolos respiratórios terminais. Por tratar-se de malformação rara, nem sempre...

RESUMO Objetivo: avaliar o papel do diagnóstico pré-natal da gastrosquise na qualidade do atendimento e na evolução de neonatos (RN) com gastrosquise. Métodos: estudo retrospectivo de 25 casos de RN com gastrosquise...

Materias / palabras clave: intestinal obstruction; midgut volvulus; meconium pseudocyst; prenatal diagnosis; magnetic resonance imaging

Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal...

Abstract Fetal growth restriction (FGR) occurswhen the fetus does not reach its intrauterine potential for growth and development as a result of compromise in placental function. It is a condition that affects 5 to 10% o...

Abstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a m...

IntroductionTo explore the prenatal MRI features of fetal complete agenesis of the corpus callosum (cACC) associated with unilateral hemispheric cortical malformation.MethodsA retrospective analysis was conducted on 101 ...

Abstract This study aimed to assess obstetric healthcare providers’ awareness and knowledge of IMDs and their prenatal manifestations. Participants were surveyed using an online questionnaire about clinical and imaging...

Abstract The present report describes a case of complete atrioventricular block (CAVB) diagnosed at 25 weeks of gestation in a pregnant woman with Sjögren's syndrome and positive anti-Ro/SSA antibodies. Fluorinated ster...