Infertility is a global health issue affecting women and men of reproductive age with increasing ... more Infertility is a global health issue affecting women and men of reproductive age with increasing incidence worldwide, in part due to greater awareness and better diagnosis. Assisted reproduction technologies (ART) are considered the ultimate step in the treatment of infertility. Recently, artificial intelligence (AI) has been progressively used in the many fields of medicine, integrating knowledge and computer science through machine learning algorithms. AI has the potential to improve infertility diagnosis and ART outcomes estimated as pregnancy and/or live birth rate, especially with recurrent ART failure. A broad-ranging review has been conducted, focusing on clinical AI applications up until September 2022, which could be estimated in terms of possible applications, such as ultrasound monitoring of folliculogenesis, endometrial receptivity, embryo selection based on quality and viability, and prediction of post implantation embryo development, in order to eliminate potential con...
Introduction. Improving the prognosis of breast cancer patients is of utmost importance in terms ... more Introduction. Improving the prognosis of breast cancer patients is of utmost importance in terms of increasing survival rates. Modern medicine has therefore prioritized better quality of life for patients, even after the disease, through a better management of the potential long-term side effects induced by anticancer treatments. Fertility preservation and family planning are therefore crucial issues to be addressed in all cancer patients of reproductive age. Along those lines, a new branch of medicine with distinct multidisciplinary characteristics has developed over the years: oncofertility. Although both national and international guidelines value reproductive counseling as an essential aspect of the diagnostic-therapeutic pathway, part and parcel of the informed consent process, it is not included within the protocols adopted by the operating units for the care and management of neoplastic diseases. Objective. This study aimed to evaluate the activity of the Breast Unit of the P...
There is a rising incidence of infertility worldwide, and many couples experience difficulties co... more There is a rising incidence of infertility worldwide, and many couples experience difficulties conceiving nowadays. Thyroid autoimmunity (TAI) is recognized as one of the major female infertility causes related to a diminished ovarian reserve and potentially impaired oocyte maturation and embryo development, causing adverse pregnancy outcomes. Growing evidence has highlighted its impact on spontaneously achieved pregnancy and pregnancy achieved by in vitro fertilization. Despite the influence of thyroid hormones on the male reproductive system, there is insufficient data on the association between TAI and male infertility. In past years, significant progress has been achieved in cell and gene therapies as emerging treatment options for infertility. Cell therapies utilize living cells to restore healthy tissue microenvironment and homeostasis and usually involve platelet-rich plasma and various stem cells. Using stem cells as therapeutic agents has many advantages, including simple s...
Hyperemesis gravidarum is defined as severe nausea and vomiting persisting after the 14thweek of ... more Hyperemesis gravidarum is defined as severe nausea and vomiting persisting after the 14thweek of pregnancy it is often characterized by dehydration, electrolyte imbalance, ketonuria and weight loss of more than 5% of body weight. We report two cases of patients presenting with hyperemesis gravidarum successfully treated with a combined preparation of ginger and B6vitamin. Our report show that ginger is an effective non pharmacological option for treating hyperemesis gravidarum with respect to the inherent heterogeneity of the available studies. Family physicians and other medical professionals should be cognizant of the value of ginger as they contemplate pharmacological options for suitable patients with Hyperemesis gravidarum. Further large-scale, multicenter trials should be undertaken to further examine the efficacies of ginger and detail its safety profiles when treating Hyperemesis gravidarum.
Subfertility and infertility are common problems among couples of reproductive age, and they incr... more Subfertility and infertility are common problems among couples of reproductive age, and they increasingly require the use of assisted reproductive techniques (ART). Understandably, doubts about the safety of such methods are increasing among future parents. The purpose of this review is to analyse the real impact of ART, such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI), on the health of the unborn baby; in particular, this work is focussed on the problems related to the neuro-psycho-motor area. Twenty-four studies were reviewed and outcomes investigated were: risk of the onset of neurodevelopmental diseases, worsening of school cognitive performance and risk of developing infantile cerebral palsy (CP) or neurological sequelae. For the first two outcomes, we did not find a correlation with ART; nevertheless, the results of the included studies about risk of CP are discordant and influenced by various confounding factors, such as pre-term birth and multiple pregnancies. IMPACT STATEMENT What is already known on this subject? Assisted reproductive techniques (ART) are the main answer for achieving pregnancy in infertile couples. However, a wide number of studies have tried to focus on possible different outcomes in terms of maternal and foetal/new-born health. Regarding this scenario, a peculiar importance is given to diseases affecting the neuro-psychomotor area of the newborn. Since this group of detrimental pathologies could heavily affect the new-born's quality of life and require costly social facilities, different studies have tried to focus on possible outcomes after ART. What do the results of this study add? This manuscript provides a review of the literature regarding ART procedures and neuro-psycho-motor implication. A review is strongly required due to the importance of collecting evidence from studies with different methodologies. What are the implications of these findings for clinical practice and/or further research? This manuscript provides evidence about the need for wider and more congruent studies regarding neurodevelopment disorders in new-borns after ART procedures. Data are prone to suggest a slight correlation, but several confounding factors can heavily hamper the possibility to draw a firm conclusion about the topic.
European Review for Medical and Pharmacological Sciences, Feb 1, 2022
Alpha-lipoic acid (ALA) plays a key role in many physiological processes, exerting anti-inflammat... more Alpha-lipoic acid (ALA) plays a key role in many physiological processes, exerting anti-inflammatory, immunomodulatory, antioxidant, detoxifying, and insulin sensitizing activities. Since ALA improves insulin resistance (IR), it has been suggested that ALA could be beneficial it in the treatment of PCOS. The natural polyol myo-Inositol (myo-Ins) and its isomers (D-Chiro-Inositol, D-Chiro-Ins) has proven to improve PCOS features and clinical outcome, according to a compelling body of available studies. Few studies have proposed to strengthen the inositol effect by associating ALA. ALA does not seem to influence significantly reproductive hormones, while its beneficial effects are presumably restricted to the metabolic features of insulin resistant PCOS women. Therefore, ALA usefulness in improving inositol activity still awaits convincingly confirmation. Experimental studies as well as proper randomized, clinical trials should be specifically tailored to assess this hypothesis. In absence of reliable evidence, ALA should not be recommended in the routinary clinical management of PCOS, even if associated to myo-Ins.
Clinical and Experimental Obstetrics & Gynecology, 2022
1Department of Woman and Child’s Health, Obstetrics and Gynecology Unit, University Hospital of P... more 1Department of Woman and Child’s Health, Obstetrics and Gynecology Unit, University Hospital of Padua, 35128 Padua, Italy 2Department of Obstetrics and Gynecology, “Filippo Del Ponte” Hospital, University of Insubria, 21100 Varese, Italy 3Department of Obstetrics and Gynecology, Villa Sofia Cervello Hospital, IVF Unit, University of Palermo, 90100 Palermo, Italy *Correspondence: harianna.riva@gmail.com (Arianna Riva) Academic Editor: Michael H. Dahan Submitted: 16 October 2021 Revised: 8 November 2021 Accepted: 10 November 2021 Published: 8 February 2022
Zika virus (ZIKV) was discovered in Uganda in 1947 and was originally isolated only in Africa and... more Zika virus (ZIKV) was discovered in Uganda in 1947 and was originally isolated only in Africa and Asia. After a spike of microcephaly cases in Brazil, research has closely focused on different aspects of congenital ZIKV infection. In this review, we evaluated many aspects of the disease in order to build its natural history, with a focus on the long-term clinical and neuro-radiological outcomes in children. The authors have conducted a wide-ranging search spanning the 2012–2021 period from databases PubMed, PubMed Central, Web of Science, Medline, Scopus. Different sections reflect different points of congenital ZIKV infection syndrome: pathogenesis, prenatal diagnosis, clinical signs, neuroimaging and long-term developmental outcomes. It emerged that pathogenesis has not been fully clarified and that the clinical signs are not only limited to microcephaly. Given the current absence of treatments, we proposed schemes to optimize diagnostic protocols in endemic countries. It is essen...
Endometrial cancer occurs in up to 29% of women before 40 years of age. Seventy percent of these ... more Endometrial cancer occurs in up to 29% of women before 40 years of age. Seventy percent of these patients are nulliparous at the time. Decision making regarding fertility preservation in early stage endometrial cancer (ES-EC) is, therefore, a big challenge since the decision between the risk of cancer progression and a chance to parenthood needs to be made. Sixty-two percent of women with complete remission of ES-EC after fertility-sparing treatment (FST) report to have a pregnancy wish which, if not for FST, they would not be able to fulfil. The aim of this review was to identify and summarise the currently established biomolecular and genetic prognostic factors that can facilitate decision making for FST in ES-EC. A comprehensive search strategy was carried out across four databases; Cochrane, Embase, MEDLINE, and PubMed; they were searched between March 1946 and 22nd December 2022. Thirty-four studies were included in this study which was conducted in line with the PRISMA criteri...
International Journal of Environmental Research and Public Health, 2021
Medical procreation impairs both the biological and psychological lives of couples. However, male... more Medical procreation impairs both the biological and psychological lives of couples. However, male and female attitudes to infertility are different and require a different approach during the IVF journey. Thus, the gender impact assessment (GIA) method was used to analyse original studies present in the literature. We found some gender-related differences and, subsequently, possible outcomes of intervention to improve healthy reproduction management and prevent infertility. In particular, it became apparent that there was the need for an in-depth male infertility assessment and a gender-specific follow-up.
Preeclampsia remains till today a leading cause of maternal and fetal morbidity and mortality. Pa... more Preeclampsia remains till today a leading cause of maternal and fetal morbidity and mortality. Pathophysiology of the disease is not yet fully elucidated, though it is evident that it revolves around placenta. Cellular ischemia in the preeclamptic placenta creates an imbalance between angiogenic and anti-angiogenic factors in maternal circulation. Endoglin, a transmembrane co-receptor of transforming growth factor β (TGF-β) demonstrating angiogenic effects, is involved in a variety of angiogenesis-dependent diseases with endothelial dysfunction, including preeclampsia. Endoglin expression is up-regulated in preeclamptic placentas, through mechanisms mainly induced by hypoxia, oxidative stress and oxysterol-mediated activation of liver X receptors. Overexpression of endoglin results in an increase of its soluble form in maternal circulation. Soluble endoglin represents the extracellular domain of membrane endoglin, cleaved by the action of metalloproteinases, predominantly matrix metalloproteinase-14. Released in circulation, soluble endoglin interferes in TGF-β1 and activin receptor-like kinase 1 signaling pathways and inhibits endothelial nitric oxide synthase activation, consequently deranging angiogenesis and promoting vasoconstriction. Due to these properties, soluble endoglin actively contributes to the impaired placentation observed in preeclampsia, as well as to the pathogenesis and manifestation of its clinical signs and symptoms, especially hypertension and proteinuria. The significant role of endoglin and soluble endoglin in pathophysiology of preeclampsia could have prognostic, diagnostic and therapeutic perspectives. Further research is essential to extensively explore the potential use of these molecules in the management of preeclampsia in clinical settings.
Endometrial cancer (EC) is a deleterious condition which strongly affects a woman’s quality of li... more Endometrial cancer (EC) is a deleterious condition which strongly affects a woman’s quality of life. Although aggressive interventions should be considered to treat high-grade EC, a conservative approach should be taken into consideration for women wishing to conceive. In this scenario, we present an overview about the EC fertility-sparing approach state of art. Type I EC at low stage is the only histological type which can be addressed with a fertility-sparing approach. Moreover, no myometrium and/or adnexal invasion should be seen, and lymph-vascular space should not be involved. Regarding the pharmaceutical target, progestins, in particular medroxyprogesterone acetate (MPA) or megestrol acetate (MA), are the most employed agent in conservative treatment of early-stage EC. The metformin usage and hysteroscopic assessment is still under debate, despite promising results. Particularly strict and imperious attention should be given to the follow-up and psychological wellbeing of wome...
Background: Cystic Fibrosis (CF) is a genetic disease which is responsible for different systemic... more Background: Cystic Fibrosis (CF) is a genetic disease which is responsible for different systemic conditions. In particular, CF could be responsible for infertility, especially in the male partner due to congenital bilateral absence of vas deferens (CBAVD). Moreover, in Assisted Reproductive Techniques CF screening is performed in order to detect possible risks for the newborn. For this reason, CF testing is one of the main genetic screening performed in infertile couples. Methods: In this scenario, we present a prospective observational study in CF testing with Next Generation Sequencing (NGS) technique on 360 subjects referring to an In-Vitro Fertilization center. Results: 360 subjects were screened for CFTR. Of them, 19 subjects presented CF causing variants, 44 subjects presented CFTR-RD associated, 22 subjects had variants of uncertain significance and 19 subjects with no clinical consequences. Conclusion: Results clarify proportions of the main CF mutations. Actually, there are no more advanced techniques rather than Next Generation Sequencing (NGS) technique, although it is not yet widely used as a test for the identification of the CF carrier.
Infertility is a global health issue affecting women and men of reproductive age with increasing ... more Infertility is a global health issue affecting women and men of reproductive age with increasing incidence worldwide, in part due to greater awareness and better diagnosis. Assisted reproduction technologies (ART) are considered the ultimate step in the treatment of infertility. Recently, artificial intelligence (AI) has been progressively used in the many fields of medicine, integrating knowledge and computer science through machine learning algorithms. AI has the potential to improve infertility diagnosis and ART outcomes estimated as pregnancy and/or live birth rate, especially with recurrent ART failure. A broad-ranging review has been conducted, focusing on clinical AI applications up until September 2022, which could be estimated in terms of possible applications, such as ultrasound monitoring of folliculogenesis, endometrial receptivity, embryo selection based on quality and viability, and prediction of post implantation embryo development, in order to eliminate potential con...
Introduction. Improving the prognosis of breast cancer patients is of utmost importance in terms ... more Introduction. Improving the prognosis of breast cancer patients is of utmost importance in terms of increasing survival rates. Modern medicine has therefore prioritized better quality of life for patients, even after the disease, through a better management of the potential long-term side effects induced by anticancer treatments. Fertility preservation and family planning are therefore crucial issues to be addressed in all cancer patients of reproductive age. Along those lines, a new branch of medicine with distinct multidisciplinary characteristics has developed over the years: oncofertility. Although both national and international guidelines value reproductive counseling as an essential aspect of the diagnostic-therapeutic pathway, part and parcel of the informed consent process, it is not included within the protocols adopted by the operating units for the care and management of neoplastic diseases. Objective. This study aimed to evaluate the activity of the Breast Unit of the P...
There is a rising incidence of infertility worldwide, and many couples experience difficulties co... more There is a rising incidence of infertility worldwide, and many couples experience difficulties conceiving nowadays. Thyroid autoimmunity (TAI) is recognized as one of the major female infertility causes related to a diminished ovarian reserve and potentially impaired oocyte maturation and embryo development, causing adverse pregnancy outcomes. Growing evidence has highlighted its impact on spontaneously achieved pregnancy and pregnancy achieved by in vitro fertilization. Despite the influence of thyroid hormones on the male reproductive system, there is insufficient data on the association between TAI and male infertility. In past years, significant progress has been achieved in cell and gene therapies as emerging treatment options for infertility. Cell therapies utilize living cells to restore healthy tissue microenvironment and homeostasis and usually involve platelet-rich plasma and various stem cells. Using stem cells as therapeutic agents has many advantages, including simple s...
Hyperemesis gravidarum is defined as severe nausea and vomiting persisting after the 14thweek of ... more Hyperemesis gravidarum is defined as severe nausea and vomiting persisting after the 14thweek of pregnancy it is often characterized by dehydration, electrolyte imbalance, ketonuria and weight loss of more than 5% of body weight. We report two cases of patients presenting with hyperemesis gravidarum successfully treated with a combined preparation of ginger and B6vitamin. Our report show that ginger is an effective non pharmacological option for treating hyperemesis gravidarum with respect to the inherent heterogeneity of the available studies. Family physicians and other medical professionals should be cognizant of the value of ginger as they contemplate pharmacological options for suitable patients with Hyperemesis gravidarum. Further large-scale, multicenter trials should be undertaken to further examine the efficacies of ginger and detail its safety profiles when treating Hyperemesis gravidarum.
Subfertility and infertility are common problems among couples of reproductive age, and they incr... more Subfertility and infertility are common problems among couples of reproductive age, and they increasingly require the use of assisted reproductive techniques (ART). Understandably, doubts about the safety of such methods are increasing among future parents. The purpose of this review is to analyse the real impact of ART, such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI), on the health of the unborn baby; in particular, this work is focussed on the problems related to the neuro-psycho-motor area. Twenty-four studies were reviewed and outcomes investigated were: risk of the onset of neurodevelopmental diseases, worsening of school cognitive performance and risk of developing infantile cerebral palsy (CP) or neurological sequelae. For the first two outcomes, we did not find a correlation with ART; nevertheless, the results of the included studies about risk of CP are discordant and influenced by various confounding factors, such as pre-term birth and multiple pregnancies. IMPACT STATEMENT What is already known on this subject? Assisted reproductive techniques (ART) are the main answer for achieving pregnancy in infertile couples. However, a wide number of studies have tried to focus on possible different outcomes in terms of maternal and foetal/new-born health. Regarding this scenario, a peculiar importance is given to diseases affecting the neuro-psychomotor area of the newborn. Since this group of detrimental pathologies could heavily affect the new-born's quality of life and require costly social facilities, different studies have tried to focus on possible outcomes after ART. What do the results of this study add? This manuscript provides a review of the literature regarding ART procedures and neuro-psycho-motor implication. A review is strongly required due to the importance of collecting evidence from studies with different methodologies. What are the implications of these findings for clinical practice and/or further research? This manuscript provides evidence about the need for wider and more congruent studies regarding neurodevelopment disorders in new-borns after ART procedures. Data are prone to suggest a slight correlation, but several confounding factors can heavily hamper the possibility to draw a firm conclusion about the topic.
European Review for Medical and Pharmacological Sciences, Feb 1, 2022
Alpha-lipoic acid (ALA) plays a key role in many physiological processes, exerting anti-inflammat... more Alpha-lipoic acid (ALA) plays a key role in many physiological processes, exerting anti-inflammatory, immunomodulatory, antioxidant, detoxifying, and insulin sensitizing activities. Since ALA improves insulin resistance (IR), it has been suggested that ALA could be beneficial it in the treatment of PCOS. The natural polyol myo-Inositol (myo-Ins) and its isomers (D-Chiro-Inositol, D-Chiro-Ins) has proven to improve PCOS features and clinical outcome, according to a compelling body of available studies. Few studies have proposed to strengthen the inositol effect by associating ALA. ALA does not seem to influence significantly reproductive hormones, while its beneficial effects are presumably restricted to the metabolic features of insulin resistant PCOS women. Therefore, ALA usefulness in improving inositol activity still awaits convincingly confirmation. Experimental studies as well as proper randomized, clinical trials should be specifically tailored to assess this hypothesis. In absence of reliable evidence, ALA should not be recommended in the routinary clinical management of PCOS, even if associated to myo-Ins.
Clinical and Experimental Obstetrics & Gynecology, 2022
1Department of Woman and Child’s Health, Obstetrics and Gynecology Unit, University Hospital of P... more 1Department of Woman and Child’s Health, Obstetrics and Gynecology Unit, University Hospital of Padua, 35128 Padua, Italy 2Department of Obstetrics and Gynecology, “Filippo Del Ponte” Hospital, University of Insubria, 21100 Varese, Italy 3Department of Obstetrics and Gynecology, Villa Sofia Cervello Hospital, IVF Unit, University of Palermo, 90100 Palermo, Italy *Correspondence: harianna.riva@gmail.com (Arianna Riva) Academic Editor: Michael H. Dahan Submitted: 16 October 2021 Revised: 8 November 2021 Accepted: 10 November 2021 Published: 8 February 2022
Zika virus (ZIKV) was discovered in Uganda in 1947 and was originally isolated only in Africa and... more Zika virus (ZIKV) was discovered in Uganda in 1947 and was originally isolated only in Africa and Asia. After a spike of microcephaly cases in Brazil, research has closely focused on different aspects of congenital ZIKV infection. In this review, we evaluated many aspects of the disease in order to build its natural history, with a focus on the long-term clinical and neuro-radiological outcomes in children. The authors have conducted a wide-ranging search spanning the 2012–2021 period from databases PubMed, PubMed Central, Web of Science, Medline, Scopus. Different sections reflect different points of congenital ZIKV infection syndrome: pathogenesis, prenatal diagnosis, clinical signs, neuroimaging and long-term developmental outcomes. It emerged that pathogenesis has not been fully clarified and that the clinical signs are not only limited to microcephaly. Given the current absence of treatments, we proposed schemes to optimize diagnostic protocols in endemic countries. It is essen...
Endometrial cancer occurs in up to 29% of women before 40 years of age. Seventy percent of these ... more Endometrial cancer occurs in up to 29% of women before 40 years of age. Seventy percent of these patients are nulliparous at the time. Decision making regarding fertility preservation in early stage endometrial cancer (ES-EC) is, therefore, a big challenge since the decision between the risk of cancer progression and a chance to parenthood needs to be made. Sixty-two percent of women with complete remission of ES-EC after fertility-sparing treatment (FST) report to have a pregnancy wish which, if not for FST, they would not be able to fulfil. The aim of this review was to identify and summarise the currently established biomolecular and genetic prognostic factors that can facilitate decision making for FST in ES-EC. A comprehensive search strategy was carried out across four databases; Cochrane, Embase, MEDLINE, and PubMed; they were searched between March 1946 and 22nd December 2022. Thirty-four studies were included in this study which was conducted in line with the PRISMA criteri...
International Journal of Environmental Research and Public Health, 2021
Medical procreation impairs both the biological and psychological lives of couples. However, male... more Medical procreation impairs both the biological and psychological lives of couples. However, male and female attitudes to infertility are different and require a different approach during the IVF journey. Thus, the gender impact assessment (GIA) method was used to analyse original studies present in the literature. We found some gender-related differences and, subsequently, possible outcomes of intervention to improve healthy reproduction management and prevent infertility. In particular, it became apparent that there was the need for an in-depth male infertility assessment and a gender-specific follow-up.
Preeclampsia remains till today a leading cause of maternal and fetal morbidity and mortality. Pa... more Preeclampsia remains till today a leading cause of maternal and fetal morbidity and mortality. Pathophysiology of the disease is not yet fully elucidated, though it is evident that it revolves around placenta. Cellular ischemia in the preeclamptic placenta creates an imbalance between angiogenic and anti-angiogenic factors in maternal circulation. Endoglin, a transmembrane co-receptor of transforming growth factor β (TGF-β) demonstrating angiogenic effects, is involved in a variety of angiogenesis-dependent diseases with endothelial dysfunction, including preeclampsia. Endoglin expression is up-regulated in preeclamptic placentas, through mechanisms mainly induced by hypoxia, oxidative stress and oxysterol-mediated activation of liver X receptors. Overexpression of endoglin results in an increase of its soluble form in maternal circulation. Soluble endoglin represents the extracellular domain of membrane endoglin, cleaved by the action of metalloproteinases, predominantly matrix metalloproteinase-14. Released in circulation, soluble endoglin interferes in TGF-β1 and activin receptor-like kinase 1 signaling pathways and inhibits endothelial nitric oxide synthase activation, consequently deranging angiogenesis and promoting vasoconstriction. Due to these properties, soluble endoglin actively contributes to the impaired placentation observed in preeclampsia, as well as to the pathogenesis and manifestation of its clinical signs and symptoms, especially hypertension and proteinuria. The significant role of endoglin and soluble endoglin in pathophysiology of preeclampsia could have prognostic, diagnostic and therapeutic perspectives. Further research is essential to extensively explore the potential use of these molecules in the management of preeclampsia in clinical settings.
Endometrial cancer (EC) is a deleterious condition which strongly affects a woman’s quality of li... more Endometrial cancer (EC) is a deleterious condition which strongly affects a woman’s quality of life. Although aggressive interventions should be considered to treat high-grade EC, a conservative approach should be taken into consideration for women wishing to conceive. In this scenario, we present an overview about the EC fertility-sparing approach state of art. Type I EC at low stage is the only histological type which can be addressed with a fertility-sparing approach. Moreover, no myometrium and/or adnexal invasion should be seen, and lymph-vascular space should not be involved. Regarding the pharmaceutical target, progestins, in particular medroxyprogesterone acetate (MPA) or megestrol acetate (MA), are the most employed agent in conservative treatment of early-stage EC. The metformin usage and hysteroscopic assessment is still under debate, despite promising results. Particularly strict and imperious attention should be given to the follow-up and psychological wellbeing of wome...
Background: Cystic Fibrosis (CF) is a genetic disease which is responsible for different systemic... more Background: Cystic Fibrosis (CF) is a genetic disease which is responsible for different systemic conditions. In particular, CF could be responsible for infertility, especially in the male partner due to congenital bilateral absence of vas deferens (CBAVD). Moreover, in Assisted Reproductive Techniques CF screening is performed in order to detect possible risks for the newborn. For this reason, CF testing is one of the main genetic screening performed in infertile couples. Methods: In this scenario, we present a prospective observational study in CF testing with Next Generation Sequencing (NGS) technique on 360 subjects referring to an In-Vitro Fertilization center. Results: 360 subjects were screened for CFTR. Of them, 19 subjects presented CF causing variants, 44 subjects presented CFTR-RD associated, 22 subjects had variants of uncertain significance and 19 subjects with no clinical consequences. Conclusion: Results clarify proportions of the main CF mutations. Actually, there are no more advanced techniques rather than Next Generation Sequencing (NGS) technique, although it is not yet widely used as a test for the identification of the CF carrier.
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