0000000000131186
AUTHOR
Emanuela Orlandi
Non-immune hydrops fetalis: Two case reports
BACKGROUND Fetal hydrops is a serious condition difficult to manage, often with a poor prognosis, and it is characterized by the collection of fluid in the extravascular compartments. Before 1968, the most frequent cause was the maternal-fetal Rh incompatibility. Today, 90% of the cases are non-immune hydrops fetalis. Multiple fetal anatomic and functional disorders can cause non-immune hydrops fetalis and the pathogenesis is incompletely understood. Etiology varies from viral infections to heart disease, chromosomal abnormalities, hematological and autoimmune causes. CASE SUMMARY A 38-year-old pregnant woman has neck lymphoadenomegaly, fever, cough, tonsillar plaques at 14 wk of amenorrhea…
First-trimester screening for trisomy-21 using a simplified method to assess the presence or absence of the fetal nasal bone.
Objective To determine the benefit of including nasal bone assessment in addition to standard first-trimester markers (nuchal translucency, free beta human chorionic gonadotropin and pregnancy-associated plasma protein A) as a screening test for Down syndrome, using a strict criterion for classification of nasal bone absence. Study design Nasal bone assessment was conducted in 2411 patients with crown-rump length between 45 and 84 mm, including 15 patients with Down syndrome. A patient was considered to have an absent nasal bone only if there was no evidence of present nasal bone. Unlike other studies, nasal bone was classified as present when there was evidence of a thin echogenic line und…
Simplified first-trimester fetal cardiac screening (four chamber view and ventricular outflow tracts) in a low-risk population
Objectives Our aim was to assess the accuracy of a simplified fetal cardiac study, inclusive of four-chamber view (4CV) and ventricular outflow tracts, performed during the 11–14 week screening by well-trained obstetricians to detect congenital heart diseases (CHDs). Methods A transabdominal ultrasound was performed on 4820 singleton pregnant women at 11–14 weeks to visualize the visceral site, the 4CV, and the outflow tracts. Neonatal outcomes were recorded 6 and 12 months after birth. Results Among the 4820 patients reviewed, 790 were excluded because of loss at prenatal or postnatal follow-up (649 cases), or inability to obtain adequate first-trimester sonographic cardiac evaluation (141…
A system for the automatic measurement of the nuchal translucency thickness from ultrasound video stream of the foetus
Nowadays the measurement of the nuchal translucency thickness is being used as part of routine ultrasound scanning during the end of the first trimester of pregnancy, for the screening of chromosomal defects, as trisomy 21. Currently, the measurement is being performed manually by physicians. The measurement can take a long time for being accomplished, needs to be performed by highly skilled operators, and is prone to errors. Semi-automated methods requires that the user manually selects a region of the image containing the nuchal translucency, procedure that is somewhat time consuming. In this paper we present a complete system prototype that is able to perform the measurement of the nucha…
Early onset Mirror Syndrome associated with foetal sacrococcigeal teratoma: a rare entity
In the mirror syndrome, maternal symptoms mime foetal and placental oedema. The pathogenesis is unknown. The most common etiologic associations are rhesus isoimmunization, twin-twin transfusion syndrome and viral infections. Few reports are associated to foetal tumors and particularly to sacroccoccigeal teratoma (SCT). Based on several published series, foetal SCT with placentomegaly and hydrops is almost universally fatal; foetal surgery is not typically offered for hydropic foetuses beyond 26 weeks of gestational age. Delivery of the foetus is the choise treatment when mirror syndrome is present with supporting the pregnancy until delivery is necessary for maternal indications or the foet…
Prospective sonographic detection of spina bifida at 11–14 weeks and systematic literature review
Objective: To conduct a literature review to assess the effectiveness of first trimester ultrasonographic markers of spina bifida (SB) integrating data with our prospective experience. Methods: The analysis of the SB cases that we prospectively detected in the first trimester, between January 2012 and February 2014, and a systematic review of all the papers evaluating the effectiveness of SB ultrasonographic markers at 11–14 weeks, namely brain stem diameter (BS), fourth ventricle/intracranial translucency (IT), cisterna magna (CM), brain stem/occipital bone distance (BSOB), the ratio between BS and BSOB. Some studies assess only the effectiveness of IT, others include more parameters, and …
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid
Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. R…
Very early prenatal diagnosis of Cockayne’s syndrome by coelocentesis
Cockayne’s syndrome (CS) is a rare autosomal recessive multisystem disease characterised by early severe progression of symptoms. This study reports the feasibility of earlier prenatal diagnosis of CS by coelocentesis at 8 weeks of gestation respect to amniocentesis or villocentesis. Three couples at risk for CS asked to perform prenatal diagnosis by coelocentesis. Coelomic fluid was aspired from coelomic cavity in four singleton pregnancy at 8 weeks of gestation and 40 foetal cells were recovered by micromanipulator. Maternal DNA contamination was evaluated by quantitative fluorescent PCR (QF-PCR) and target regions of foetal DNA containing parental mutations of ERCC6 gene were amplified a…
Wavelet analysis and neural network classifiers to detect mid-sagittal sections for nuchal translucency measurement
We propose a methodology to support the physician in the automatic identification of mid-sagittal sections of the fetus in ultrasound videos acquired during the first trimester of pregnancy. A good mid-sagittal section is a key requirement to make the correct measurement of nuchal translucency which is one of the main marker for screening of chromosomal defects such as trisomy 13, 18 and 21. NT measurement is beyond the scope of this article. The proposed methodology is mainly based on wavelet analysis and neural network classifiers to detect the jawbone and on radial symmetry analysis to detect the choroid plexus. Those steps allow to identify the frames which represent correct mid-sagitta…