Publications by authors named "A Levy-Mozziconacci"

Background: The determination of foetal Rhesus D (RHD) status allows appropriate use of IgRh prophylaxis by restricting its use to cases of RHD feto-maternal incompatibilities. There is a degree of uncertainty about the cost-effectiveness of foetal RHD determination, yet screening programs are being introduced into clinical practice in many countries. This paper evaluates the impact of non-invasive foetal Rhesus D (RHD) status determination on the costs of managing RHD-negative pregnant women and on the appropriate use of anti-D prophylaxis in a large sample of RHD-negative pregnant women using individual prospectively collected clinical and economic data.

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Article Synopsis
  • Holoprosencephaly (HPE) is the leading congenital brain defect, resulting from improper forebrain development and linked to facial deformities, with significant variability in its clinical presentation and genetic causes.
  • A targeted next-generation sequencing study of 257 HPE patients revealed that about 24% had harmful mutations, while 10% had variants with unclear impacts, advancing our understanding of HPE genetics.
  • The research identified major genes associated with HPE, including SHH, ZIC2, and SIX3, and highlighted the importance of fibroblast growth factor signaling in the condition, suggesting that multiple genetic factors may contribute to its inheritance.
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Predicting pregnancy complications is a major topic for clinicians and biologists for maternal and fetal monitoring. Noninvasive biomarkers in maternal blood such as circulating microRNAs (miRNAs) are promising molecules to predict pregnancy disorders. miRNAs are noncoding short RNAs that regulate mRNA expression by repressing the translation or cleaving the transcript.

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  • The study investigates the role of soluble major histocompatibility complex class I related chain (sMIC) in immune disorders linked to vascular pregnancy diseases (VPD).
  • It was found that sMIC levels were significantly higher in women with VPD (32%) compared to healthy pregnancies (1.6%), particularly in cases of intrauterine fetal death (44%) and vascular intrauterine growth restriction (39%).
  • The presence of sMIC is associated with changes in immune cell function, potentially impairing NK cell activity and impacting important processes like vascular remodeling during pregnancy.
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  • The study aimed to assess the effectiveness of RhD fetal genotyping from the plasma of RhD-negative pregnant women.
  • Results showed a 95.38% accuracy in predicting fetal RhD status during gestation, with a sensitivity of 100% and specificity of 94.44%, identifying one false positive.
  • The findings suggest that RQ-PCR can effectively determine fetal RhD status in RhD-negative pregnant women in Tunisia.
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