Search results for "Fetal Diseases"

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

2020

Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …

Use of three-dimensional ultrasonography for the study of normal and pathologic morphology of the human embryo and fetus: preliminary report.

1995

Our objective was to determine whether three-dimensional ultrasonography offers advantages over two-dimensional sonography for the evaluation of normal and pathologic morphology of human embryos and fetuses at various stages of pregnancy. Our studies suggest that small fetal and embryonic malformations are better defined with 3D sonography. Our experience indicates that 3D sonography allows more detailed visualization of fetal internal structures. We believe that with technical improvements 3D sonography will permit a more complete evaluation of fetuses earlier in gestation than is possible with current 2D sonographic instruments.

Non-Immune Goiter and Hypothyroidism in a 19-Week Fetus: A Plea for Conservative Treatment

2009

Hypothyroidism was documented by cordocentesis at 19 weeks in a fetus with non-immune goiter. Intra-amniotic thyroxine was injected at 25 weeks when amniotic fluid volume increased. Psychomotor outcome was normal. We argue that intra-amniotic thyroxine should not be used to treat the hypothyroidism but only to correct the development of polyhydramnios.

Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. …

2004

We report the results of intrauterine L-thyroxine therapy, and the long-term follow-up in a fetus who presented at 32 weeks' gestation with goitrous hypothyroidism, hyperextension of the neck, and polyhydramnios. Spontaneous delivery was possible and hypothyroidism improved. Molecular analysis revealed a new compound heterozygous mutation (Y453D/C800R) in the TPO gene.

Unexpected middle cerebral artery peak systolic velocity values in the normal fetal population. Are they a matter of concern?

2018

AbstractObjective: The aim of this study was to investigate in the fetus the relationship between unexpected high middle cerebral artery peak systolic velocity (middle cerebral artery (MCA) peak sy...

Three-dimensional sonographic diagnosis of a large cystic neck lymphangioma.

2004

Lymphangiomas are fairly well-circumscribed benign masses of lymphatic vessels or channels that vary in size, are usually greatly dilated, and are lined with normal endothelial cells. They may be classified into 3 groups: lymphangioma simplex, consisting of capillary-sized channels; cavernous lymphangiomas, consisting of dilated channels with a fibrous adventitial covering; and cystic lymphangiomas, or hygromas, composed of multiple cysts of varying sizes that are lined with endothelial cells. Mixed types may coexist within a given lesion. Although lymphangiomas can occur in any part of the body where lymphatic ducts are located, 95% of them are found in the neck, the head, or the axilla. 1…

[Fetal pseudohypoaldosteronism: rare cause of hydramnios].

2005

PHA is a rare cause of hydramnios, characterized by increased amniotic fluid levels of aldosterone and sodium. Two distinct genetic entities (PHA type I and PHA type II) are included. Both are stemmed by a target organ defect with diminished renal tubular responsiveness to aldosterone. The AA present a case in which pregnancy resulted in a preterm infant with severe hydramnios, metabolic acidosis, hyponatriemia, hyperkaliemia. Salt and fluid replacement significantly improved clinical and metabolic condition. However a growth deficiency (-2 SDS) persists at follow-up.

Sonographic diagnosis of lethal osteogenesis imperfecta in the second trimester: case report and review.

1986

Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.

2010

We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy.

Fetal/Neonatal Thyrotoxicosis in a Newborn From a Hypothyroid Woman With Hashimoto Thyroiditis.

2016

Context: Fetal/neonatal thyrotoxicosis is a rare but potentially life-threatening condition. It is most commonly observed in poorly controlled Graves’ disease during pregnancy. Case Description: Here we describe the first reported case of thyrotoxicosis in a fetus/newborn from a woman with Hashimoto’s thyroiditis and levothyroxine-treated hypothyroidism. Transplacental passage of stimulating TSH-receptor antibodies, measured by a cell-based bioassay, was the underlying mechanism of fetal/neonatal thyrotoxicosis even though the mother had no history of hyperthyroidism. Conclusion: Diagnosis and management of fetal hyperthyroidism can be challenging. TSH receptor antibody testing should be co…