Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks

Gullo, Giuseppe; Scaglione, Marco; Buzzaccarini, Giovanni; Laganà, Antonio Simone; Basile, Giuseppe; Chiàntera, Vito; Cucinella, Gaspare; Zaami, Simona

doi:10.3390/jpm13010001

Cited by 19 publications

(9 citation statements)

References 63 publications

(125 reference statements)

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“…It is also informative to screen for trisomy 18 and trisomy 13 even with lower performance compared to 21, leading to a global decrease in invasive procedures for karyotyping [16,207,234]. NIPS is likely to spread to other fetal chromosomopathies and monogenic diseases, and recent guidelines recommend offering NIPS to all pregnancies [235,236]. However, due to its current cost, NIPS is still used in many countries as a second-tier test following maternal serum screening methods.…”

Section: Discussionmentioning

confidence: 99%

Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta

Gadrey

Leguy

Pidoux

et al. 2023

IJMS

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It is now well established that maternal serum markers are often abnormal in fetal trisomy 21. Their determination is recommended for prenatal screening and pregnancy follow-up. However, mechanisms leading to abnormal maternal serum levels of such markers are still debated. Our objective was to help clinicians and scientists unravel the pathophysiology of these markers via a review of the main studies published in this field, both in vivo and in vitro, focusing on the six most widely used markers (hCG, its free subunit hCGβ, PAPP-A, AFP, uE3, and inhibin A) as well as cell-free feto–placental DNA. Analysis of the literature shows that mechanisms underlying each marker’s regulation are multiple and not necessarily directly linked with the supernumerary chromosome 21. The crucial involvement of the placenta is also highlighted, which could be defective in one or several of its functions (turnover and apoptosis, endocrine production, and feto–maternal exchanges and transfer). These defects were neither constant nor specific for trisomy 21, and might be more or less pronounced, reflecting a high variability in placental immaturity and alteration. This explains why maternal serum markers can lack both specificity and sensitivity, and are thus restricted to screening.

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Section: Discussionmentioning

confidence: 99%

Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta

Gadrey

Leguy

Pidoux

et al. 2023

IJMS

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“…It might be of added value to perform all the ultrasound scan monthly and, if possible, to postdate eventually surgery treatments after delivery. Finally, regarding promotion of early diagnosis, there is much evidence published indicating that supplementation with certain specimens such as inositol and betaine might be helpful to reduce breast density and thereafter achieve earlier diagnosis, especially in women with high breast density 70–75 …”

Section: Discussionmentioning

confidence: 99%

Sentinel lymph node biopsy for breast cancer during pregnancy: A comprehensive update

Bothou,

Margioula‐Siarkou,

Petousis

et al. 2023

Eur J Clin Investigation

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BackgroundPregnant patients diagnosed with breast cancer (PrBC) may receive substantially different treatments compared to general population, considering that certain treatment options cannot be applied during pregnancy due to their potential harmful effects to the foetus. Regarding the use of sentinel lymph node biopsy (SLNB) in pregnant patients, potential concerns include foetal harm from radiation exposure, possible teratogenic effects of blue dyes and maternal anaphylaxis to isosulfan.ObjectiveThe main objective of the present systematic review is to summarize and present current knowledge and up‐to‐date evidence about the safety and efficacy of SLNB in PABC.MethodsMEDLINE, Google Scholar and UpToDate databases were searched up to 22 January 2023. Articles studying the safety and effectiveness of SLNB in patients for PrBC were eligible for inclusion in the present review.ResultsIn total, 63 articles that met the inclusion criteria were included in this study. Forty‐seven articles were strongly in favour of performing SLNB in PABC, 4 articles were partially in favour, 10 articles were strongly against and 2 articles were partially against performing SLNB in PABC. Sub‐categorization based on type of study showed that the majority of studies in favour were of higher level of evidence than those against. Furthermore, there were overall 12 studies reporting on outcomes. There were overall 382 women with PrBC that underwent SLNB. Full data were reported for 237 cases. Overall live birth rate was 95.8%, while overall neonatal complication rate was 3.4%.No case of maternal side effects or anaphylactic reaction, maternal death, stillbirth and neonatal death was reported (0%).ConclusionsSentinel lymph node biopsy seems to be safe and effective technique for breast cancer during pregnancy.

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“…Furthermore, owing to the inherent maternal and fetal risks associated with GDM, healthcare professionals have a professional obligation to engage in comprehensive discussions with patients. These dialogs should encompass an elucidation of the procedural risks and benefits, as well as potential alternatives (32). The medical community is increasingly embracing the concept of personalized medicine (33), necessitating a keen focus on individualized care and patient priorities (34).…”

Section: Discussionmentioning

confidence: 99%

Investigating the biochemical association of gestational diabetes mellitus with dyslipidemia and hemoglobin

Akash,

Noureen,

Rehman

et al. 2023

Front. Med.

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AimsTo investigate the biochemical correlation of hemoglobin (Hb), dyslipidemia, and HbA1c with gestational diabetes mellitus (GDM).BackgroundGDM is a condition that develops during pregnancy and is characterized by high blood sugar levels. Biochemical parameters such as hemoglobin (Hb), dyslipidemia, and HbA1c have been implicated in the development of GDM. Understanding the correlation between these biochemical parameters and GDM can provide insights into the underlying mechanisms and potential diagnostic markers for the condition.ObjectiveThe objective of this study was to evaluate the correlation of various biochemical parameters, including Hb, dyslipidemia, and HbA1c, in pregnant women with and without GDM.MethodA cross-sectional study design was used. Pregnant females attending a tertiary care hospital in Faisalabad between September 1st, 2021, and June 25th, 2022, were included in the study. The participants were divided into two groups: those with GDM (GDM group) and those without GDM (non-GDM group). Blood glucose, Hb, and lipid levels were compared between the two groups using statistical tests, including chi-square, independent sample t-test, and Pearson’s correlation.ResultOut of the 500 participants, 261 were in the 2nd trimester and 239 in the 3rd trimester. Maternal age showed a significant difference between the GDM and non-GDM groups. The levels of Hb, TC, HDL, LDL, and HbA1c significantly differed (p < 0.05) between the two groups. TC (r = 0.397), TG (r = 0.290), and LDL (r = 0.509) showed a statistically significant and moderately positive correlation with GDM. HDL (r = −0.394) and Hb (r = −0.294) showed a moderate negative correlation with GDM.ConclusionIncreased levels of HbA1c, TC, and LDL, along with decreased levels of HDL and Hb, were identified as contributing factors to GDM. The levels of TC, TG, and LDL were positively correlated with GDM, while HDL and Hb were negatively correlated. The findings of this study suggest that monitoring and managing hemoglobin, dyslipidemia, and HbA1c levels during pregnancy may be important in identifying and potentially preventing or managing GDM. Further research is needed to explore the underlying mechanisms and potential interventions targeting these biochemical parameters in relation to GDM.

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Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks

Cited by 19 publications

References 63 publications

Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta

Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta

Sentinel lymph node biopsy for breast cancer during pregnancy: A comprehensive update

Investigating the biochemical association of gestational diabetes mellitus with dyslipidemia and hemoglobin

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