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1.
J Matern Fetal Neonatal Med ; 35(25): 5363-5368, 2022 Dec.
Article in English | MEDLINE | ID: mdl-33517808

ABSTRACT

OBJECTIVE: To investigate whether first-trimester maternal plasma fetal fraction is altered in women that subsequently develop preeclampsia (PE) or gestational hypertension (GH) and to examine its potential value in improving the performance of screening for PE and GH by maternal factors and maternal serum pregnancy associated plasma protein-A (PAPP-A), mean arterial pressure (MAP) and uterine artery pulsatility index (UtA-PI). METHODS: The study population of 10,131 pregnancies undergoing cell free fetal DNA testing at 11-13 weeks' gestation included 91 (0.9%) cases with preterm-PE, 222 (2.2%) cases with term-PE, 360 (3.6%) with GH and 9,458 (93.4%) cases unaffected by hypertensive disorders. Maternal plasma fetal fraction levels were expressed as multiples of the median (MoM) after adjustment for maternal factors and crown-rump length. The performance of screening for preterm-PE, term PE and GH by maternal factors and MoM values of fetal fraction, PAPP-A, UtA-PI and MAP was evaluated by receiver operating characteristic (ROC) curves. RESULTS: The median fetal fraction MoM was significantly lower in the preterm-PE (0.825; IQR 0.689-1.115 MoM, p < .001), term-PE (0.946; IQR 0.728-1.211 MoM, p = .028) and GH (0.928; IQR 0.711-1.182 MoM, p < .001) groups than in the unaffected group (1.002; IQR 0.785-1.251 MoM). However, the performance of screening for PE or GH by maternal factors alone or by maternal factors and PAPP-A, UtA-PI and MAP was not significantly improved by the addition of fetal fraction. CONCLUSIONS: First trimester maternal plasma fetal fraction is not useful in screening for hypertensive disorders of pregnancy.


Subject(s)
Cell-Free Nucleic Acids , Hypertension, Pregnancy-Induced , Pre-Eclampsia , Pregnancy , Infant, Newborn , Female , Humans , Pregnancy-Associated Plasma Protein-A , Placenta Growth Factor , Hypertension, Pregnancy-Induced/diagnosis , Pulsatile Flow , Prospective Studies , Uterine Artery/diagnostic imaging , Pregnancy Trimester, First , Biomarkers
2.
Sensors (Basel) ; 21(9)2021 Apr 23.
Article in English | MEDLINE | ID: mdl-33922789

ABSTRACT

Monomial codes were recently equipped with partial order relations, a fact that allowed researchers to discover structural properties and efficient algorithm for constructing polar codes. Here, we refine the existing order relations in the particular case of the binary erasure channel. The new order relation takes us closer to the ultimate order relation induced by the pointwise evaluation of the Bhattacharyya parameter of the synthetic channels, which is still a partial order relation. To overcome this issue, we appeal to a related technique from network theory. Reliability network theory was recently used in the context of polar coding and more generally in connection with decreasing monomial codes. In this article, we investigate how the concept of average reliability is applied for polar codes designed for the binary erasure channel. Instead of minimizing the error probability of the synthetic channels, for a particular value of the erasure parameter p, our codes minimize the average error probability of the synthetic channels. By means of basic network theory results, we determine a closed formula for the average reliability of a particular synthetic channel, that recently gain the attention of researchers.

3.
J Med Life ; 14(5): 722-725, 2021.
Article in English | MEDLINE | ID: mdl-35027977

ABSTRACT

Facial dysostoses are clinically and genetically heterogeneous conditions characterized by congenital craniofacial anomalies which result from abnormal development of the first two pharyngeal arches and their derivatives during embryogenesis. Mandibulofacial dysostosis Guion-Almeida type (MFDGA) is a rare and relatively new syndrome described in the literature, first identified by Guion-Almeida et al. in 2000 and 2006. Another 108 cases have been documented after that. Prenatal diagnosis of this syndrome has not been described yet. Here we present the prenatal ultrasound findings in a case where MFDGA was confirmed after delivery. We suggest that MFDGA should be included in the prenatal differential diagnosis of syndromes with micrognathia and craniofacial anomalies.


Subject(s)
Intellectual Disability , Mandibulofacial Dysostosis , Female , Humans , Mandibulofacial Dysostosis/diagnostic imaging , Mandibulofacial Dysostosis/genetics , Peptide Elongation Factors , Pregnancy , Ribonucleoprotein, U5 Small Nuclear , Syndrome
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