Cystic Fibrosis assessment in infertile couples: genetic analysis trough the Next Generation Sequencing technique

D’Alcamo, Elena; Gullo, Giuseppe; Cucinella, Gaspare; Perino, Antonio; Burgio, Sofia; Etrusco, Andrea; Agrigento, Veronica; Sclafani, Serena; Listı́, Florinda; Maggio, Aurelio; Vega, Igea; Laganà, Antonio Simone; Vitagliano, Amerigo; Noventa, Marco; Buzzaccarini, Giovanni

doi:10.31083/j.ceog4905105

Cited by 2 publications

(4 citation statements)

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“…When a carrier is found, partner testing alternatives such as a variant panel or CFTR sequencing must be taken into account. Early results come from testing both partners of a relationship simultaneously with a panel (11,12).…”

Section: Prenatal Diagnostic Of Cfmentioning

confidence: 99%

“…For carrier screening, hundreds of genes can be read simultaneously using the next-generation sequencing (NGS) technique. CF carrier screening, often referred to as expanded carrier screening, presents difficulties in this situation since it cannot disclose variations with unknown significance, and it still arises discussion regarding residual risk (12).…”

Section: Prenatal Diagnostic Of Cfmentioning

confidence: 99%

“…After using in vitro fertilization to create the embryos, carrier couples have the option of preimplantation genetic diagnosis (PGD/PIGD), which comprises embryo biopsy and genetic testing for known parental variations (12,13). This gives the parents the option to select only those embryos for transfer that don't have the disease-causing gene-type.…”

Section: Prenatal Diagnostic Of Cfmentioning

confidence: 99%

See 2 more Smart Citations

Cystic fibrosis management in pediatric population—from clinical features to personalized therapy

Azoicai,

Lupu,

Trandafir

et al. 2024

Front. Pediatr.

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Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). In 1949, it's been identified as a monogenic disease and was thought to primarily affect individuals of Northern European descent. It was the most prevalent autosomal recessive disease that shortens life. With the availability of multiple testing methodologies nowadays, there is a chance to create novel and enhanced treatment options. Even in the absence of a high sweat chloride test (SCT) result, the discovery of two causal mutations is diagnostic for cystic fibrosis (CF). For a CF diagnosis, however, at least two positive E sweat chloride tests are still required. In order to achieve early and active intervention to manage cystic fibrosis (CF) and its comorbidities, treatment regimens for pediatric patients should be evaluated, improved, and closely monitored. New developments in the treatment of cystic fibrosis (CF) have led to the development of medications derived from molecules that target the pathogenetic pathway of the illness. These options are very efficient and allow pediatric patients to receive individualized care. However, in order to better direct patient care and enhance patient outcomes, it is crucial to research uncommon CF mutations, which can provide crucial information about the prognosis of the disease and the relationships between genotype and phenotype. To ensure the success of creating novel, safer, and more efficient treatment approaches, a deeper understanding of the pathogeny of the illness is required. In the age of customized medicine, genetic research will be essential to improving patient care and quality of life for those with uncommon mutations.

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Section: Prenatal Diagnostic Of Cfmentioning

confidence: 99%

Section: Prenatal Diagnostic Of Cfmentioning

confidence: 99%

Section: Prenatal Diagnostic Of Cfmentioning

confidence: 99%

See 1 more Smart Citation

Cystic fibrosis management in pediatric population—from clinical features to personalized therapy

Azoicai,

Lupu,

Trandafir

et al. 2024

Front. Pediatr.

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“…Moreover, often these couples need an in vitro fertilization (IVF) resolutive treatment after having tried all the techniques known in the literature, such as an injection of embryo culture supernatant to the endometrial cavity [ 14 ]. ART treatments are also needed in patients who have to preserve their fertility in case of cancer diagnosis or in patients with genetic disease responsible for different systemic conditions, including infertility, needing specific psychological support [ 15 , 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

Toward a Personalized Psychological Counseling Service in Assisted Reproductive Technology Centers: A Qualitative Analysis of Couples’ Needs

Scaravelli¹,

Fedele²,

Spoletini³

et al. 2022

JPM

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Infertility may have a very strong emotional impact on individuals, requiring adequate support, but few studies on patients' demands toward psychological support have been conducted. This study aims to explore the emotions related to the infertility and to the Assisted Reproductive Technology (ART) procedure for which patients consider useful a psychological support. A total of 324 women completed a sociodemographic and clinical questionnaire and an open-ended questionnaire on emotional needs for psychological support. The written texts were explored by the Linguistic Inquiry and Word Count (LIWC) programme and linguistic characteristics were related to sociodemographic and anamnestic variables. Specific linguistic features were connected to several individual characteristics. More specifically, differences in linguistic processes emerged comparing women with an age over or under 40 years, women undergoing their first attempts versus more attempts, women undergoing ART with or without gamete donation, and women undergoing ART for male or unknown causes, as well as those undergoing ART for female or both partners’ problems. These differences seem to confirm that older age, more attempts, gamete donation, and ART for unknown or male causes are risk factors that may worsen women's psychological well-being. This study contributes to increase the knowledge about the emotional needs of patients undergoing an ART procedure to develop specific psychological intervention programs.

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Cystic Fibrosis assessment in infertile couples: genetic analysis trough the Next Generation Sequencing technique

Cited by 2 publications

References 0 publications

Cystic fibrosis management in pediatric population—from clinical features to personalized therapy

Cystic fibrosis management in pediatric population—from clinical features to personalized therapy

Toward a Personalized Psychological Counseling Service in Assisted Reproductive Technology Centers: A Qualitative Analysis of Couples’ Needs

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