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Congenital heart defects and placental dysfunction
Full text linkLa presenza di malformazioni cardiache congenite nel feto è una importante complicanze che ha un impatto drammatico sulla vita del neonato .
Abbiamo voluto studiare la possibile presenza di una disfunzione placentare in feti che presentano la diagnosi di un difetto cardiaco. Abbiamo dimostrato che nel I trimestre, i feti con malformazione cardiaca presentano concentrazioni significativamente più basse di PlGF (placental growth factor) e pregnancy-associated plasma protein (PAPP-a). Ciò significa che la funzionalità placentare è ridotta. Inoltre, abbiamo mostrato che la perfusione placentare in queste gravidanze è normale, come mostrato dalla presenza di una normale flussimetria a carico delle arterie uterine. Quindi, sulla base di questi risultati, possiamo concludere che nei feti con patologia cardiaca ci sono evidenze di una disfunzione placentare primaria.
Abbiamo quindi voluto verificare le conseguenze di una disfunzione placentare sulla crescita fetale e sulla velocimetria Doppler materno-fetale nel secondo e terzo trimestre di gravidanza.The presence of a congenital heart defect (CHD) is a major complication with a dramatic impact on
the quality of life of the neonate throughout his life.
We wanted to investigate the presence of placenta dysfunction in fetuses with CHD. In the first trimester of pregnancy we showed, that fetuses with a CHD are characterized by significantly lower maternal serum levels of placental growth factors (PlGF) and pregnancy-associated plasma protein (PAPP-a) meaning that the placental function is reduced. Nevertheless, these pregnancies are characterized by normal flow in the uterine arteries (UtA), implying that the reduced placental function does not depend by a reduced placental perfusion, but by a primary placental dysfunction may be advocate as an intrinsic characteristic of these foetuses.
We then wanted to analyze the effects of the placental dysfunction on fetal growth and maternal-fetal Dopplers in the second and third trimester of the pregnancy
The role of melatonin in pregnancies complicated by placental insufficiency: A systematic review
Full text linkPlacental insufficiency affects about 10% of pregnancies and can lead to pre-eclampsia, fetal growth restriction, and preterm birth. Despite significant advances in early prediction and prevention of preterm pre-eclampsia with aspirin, the effects of prophylaxis on fetal growth restriction are less certain, and the rates of late-onset pre-eclampsia are not influenced by aspirin treatment. Pregnancies complicated by placental insufficiency are characterized by increased oxidative stress, and recent studies suggest that melatonin has antioxidant properties and contributes to maintaining placental homeostasis. We aimed to systematically review the available literature about melatonin in pregnancies complicated by placental insufficiency, specifically preeclampsia and fetal growth restriction, exploring three different aspects: 1) maternal melatonin levels; 2) expression and activity of melatonin placental receptors; 3) effects of maternal melatonin administration. PubMed (Medline) and Scopus were searched until December 2020. Identified studies were screened and assessed independently by two authors. Data were extracted and compiled in qualitative evidence synthesis. The circadian pattern of melatonin secretion seems to be altered in pregnancies complicated by placental insufficiency reflected by lower production of melatonin, with consequent lower systemic and placental concentrations and lower expression of melatonin receptors, thus reducing the local release of the indole and its autocrine function. Small intervention studies also suggest that treatment is safe and may lead to prolongation of pregnancy and better outcomes, but double-blind, randomized placebo-controlled trials are lacking
IONA test for first-trimester detection of trisomies 21, 18 and 13
No full textOBJECTIVE: To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA® test.
METHODS:
This was a nested case-control study of cfDNA analysis of maternal plasma using the IONA test. Samples were obtained at 11-13 weeks' gestation, before chorionic villus sampling, from 201 euploid pregnancies, 35 with trisomy 21, four with trisomy 18 and two with trisomy 13. Laboratory personnel were blinded to the fetal karyotype.
RESULTS:
Probability scores for trisomies 21, 18 and 13 were given for 241/242 samples analyzed. No probability score was provided for one (0.5%) euploid pregnancy because of low fetal fraction. In all 35 cases of trisomy 21 the probability score for trisomy 21 was > 95% and the scores for trisomies 18 and 13 were ≤ 0.0001%. In all four cases of trisomy 18, the probability score for trisomy 18 was > 77% and the scores for trisomies 21 and 13 were ≤ 0.0001%. In the two cases of trisomy 13, the probability score for trisomy 13 was > 59% and the scores for trisomies 21 and 18 were ≤ 0.0001%. In the 200 euploid pregnancies with a test result, the probability score was < 0.08% for trisomy 21, < 0.001% for trisomy 18 and < 0.002% for trisomy 13. Therefore, the IONA test detected 100% of all three trisomies, with a false-positive rate of 0%.
CONCLUSION:
The IONA test successfully differentiated all cases of trisomies 21, 18 and 13 from euploid pregnancies
Pre-eclampsia: From Etiology and Molecular Mechanisms to Clinical Tools. A Review of the Literature
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature
Full text linkObjective: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is poorly described in the literature but, nevertheless, it constitutes an important clinical dilemma for the fetal medicine specialist in terms of significance and prognosis. Moreover, its occurrence is increasing maybe because of the widespread of high-resolution ultrasound machine. The aim of this work is to review the available literature regarding the oCSP along with the description of a case-report of oCSP with an unexpected outcome. Methods: A search of the literature through Pubmed was performed up to December 2022 with the aim to identify all cases of oCSP previously described, using as keywords "cavum septi pellucidi," "abnormal cavum septi pellucidi," "fetus," and "septum pellucidum." Along with the narrative review, we describe a case-report of oCSP. Results: A 39 years old woman was diagnosed with a nuchal translucency between the 95° and 99° centile in the first trimester and an oCSP and "hookshaped" gallbladder at 20 weeks. Left polymicrogyria was found at fetal magnetic resonance imaging (MRI). Standard karyotype and chromosomal microarray analysis (CMA) were normal. After birth, the newborn presented signs of severe acidosis, untreatable seizures and multiorgan failure leading to death. A targeted gene analysis of the epilepsy panel revealed the presence of a de novo pathogenic variant involving the PTEN gene. The literature review identified four articles reporting on the oCSP of which three were case report and one was a case-series. The reported rate of associated cerebral findings is around 20% and the rate of adverse neurological outcome is around 6%, which is higher than the background risk of the general population. Conclusions: This case-report and review of the literature shows that oCSP is a clinical entity poorly described so far and that, despite the generally good prognosis, it requires caution in counseling. The diagnostic work-up should include neurosonography while fetal MRI may be always indicated for non-isolated cases only, depending on local facilities. Targeted gene analysis or whole exome sequencing may be indicated for non-isolated cases
False-Positive Diagnosis of Congenital Heart Defects at First-Trimester Ultrasound: An Italian Multicentric Study
Full text linkObjective. Our objective was to assess the proportion of false-positive CHD cases at the first-trimester evaluation of the fetal heart, performed by experienced operators. Methods. This multicenter retrospective study included of pregnant women with suspicion of CHDs during first-trimester screening for aneuploidies. In all cases, the fetal heart assessments were performed by obstetricians with extensive experience in first-trimester scanning, following an extended protocol proposed by SIEOG national guidelines, which included an axial view of the fetal abdomen and chest to assess visceral situs and evaluation of the four-chamber view (4CV) and three-vessel trachea view (3VTV) with color Doppler. In all suspected cases, fetal echocardiography was offered within 16 and/or at 19–22 weeks’ gestation. Results. From a population of 4300 fetuses, 46 CHDs were suspected. Twenty-four cases were excluded from this analysis because the parents opted for early termination of the pregnancies due to associated structural and/or genetic anomalies. For the remaining 22, echocardiography was performed by 16 weeks in 14 cases (64%) and after 16 weeks in 8 cases. In 19 cases (86.4%), a fetal cardiologist confirmed the presence of a CHD. In three cases (13%), the cardiac anatomy was found to be normal at the fetal echocardiography and postnatally. Conclusions. This study shows that the proportion of false-positive cases at the first-trimester ultrasound examination of the fetal heart, performed by experienced operators, may carry a higher risk of false-positive diagnosis than expected. Therefore, this issue must be discussed in instances where a CHD is suspected at the first-trimester screening
Fetal major cardiac defects and placental dysfunction at 11-13 weeks' gestation
No full textTo investigate the relationship between fetal major cardiac defects and markers of placental perfusion and function.
METHODS:
This was a prospective screening study in singleton pregnancies at 11-13 weeks' gestation. Uterine artery pulsatility index (UTPI), serum pregnancy associated plasma protein-A (PAPP-A) and placental growth factor (PLGF) were measured and the values were converted into multiples of the normal median (MoM). Median MoM values in fetuses with isolated major cardiac defects were compared to those in fetuses without major defects.
RESULTS:
The 50,094 singleton pregnancies fulfilling the entry criteria included 49,898 pregnancies with a normal cardiac anatomy and 196 (0.39%) with major congenital cardiac defects; 73 (37.2%) with conotruncal defects, 63 (32.1%) with left ventricular outflow tract (LVOT) defects and 60 (30.6%) with valvular defects. In the group of cardiac defects, compared to controls, there was lower median PAPP-A MoM (0.81 vs 1.00, p<0.0001) and PLGF MoM (0.78 vs 1.00, p<0.0001) but no significant difference in UTPI MoM (1.01 vs 1.00, p=0.162).
CONCLUSIONS:
In pregnancies with isolated major cardiac defects there is evidence of placental dysfunction in the absence of impaired placental perfusion
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