The fertility willingness and acceptability of preimplantation genetic testing in Chinese patients with autosomal dominant polycystic kidney disease

Sun, Mingji; Xue, Cheng; Lu, Yinan; Ma, Yiyi; Pan, Ting; Wang, Xiaoliu; Li, Fan; Shen, Jiandong; Hao, Yan; Zheng, Deyi; Li, Junhua; Li, Mingxu; He, Yan; Mei, Changlin

doi:10.1186/s12882-020-01785-x

Cited by 7 publications

(6 citation statements)

References 28 publications

(33 reference statements)

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“…In China, a study assessed the acceptability of PGT among patients with autosomal dominant polycystic kidney disease. In that study, 60.4% of the respondents were aware that PGT technology can diagnose and modify the outcome of disease inheritance, and 79.6% of patients will choose PGT if they would plan for children in the future [ 12 ]. Recently a study has been conducted to know the awareness about genetic testing on 333 participants at King Saud University, Riyadh, Saudi Arabia, has also found a majority of their respondents (85.6%) agreed with having premarital genetic testing like our study in which the majority has displayed a positive attitude towards PGT.…”

Section: Discussionmentioning

confidence: 99%

Preimplantation Genetic Testing: A Perceptual Study From the Eastern Province, Saudi Arabia

Tehsin¹,

Almutawah²,

Almutawah³

et al. 2021

Cureus

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Background: Chromosomal abnormalities affect many children which lead to high rates of morbidity and mortality among them. So, preimplantation genetic testing (PGT) is an evolving technology used to detect a specific genetic disorder in embryos of a couple known to be carriers or affected by a specific mutation. Similarly, it could be used in advanced maternal age which is a high risk of chromosomal abnormalities. Although PGT is a solution for many inherited chromosomal disorders, many ethical dilemmas surround its application. Thus, the aim of this study is to evaluate the community awareness and acceptance of PGT which will eventually lead to a healthier society through disease-free babies in Eastern Province, Kingdom of Saudi Arabia (KSA).Methodology: A qualitative cross-sectional questionnaire-based study was conducted within the population of the Eastern Province of Saudi Arabia. The questionnaire was designed in Arabic and distributed electronically through social media platforms.Results: The study included 837 participants, whose ages ranged from 18 to 65 years with the mean age 33.5 ± 11.9 years. Good awareness and acceptance were detected among 53.7% of the old aged group (50 years or more) compared to 39.5% of the young age group. Also, 44.9% of female participants had good awareness in comparison to 34.2% of males (p=.033). Participants with a higher number of children had significantly higher awareness and acceptance of PGT. Also, 44.3% of participants who knew someone in need of assisted reproductive technology, had good awareness and acceptance levels compared to 36.9% of those who did not (p=.033). Conclusion:The perception of Eastern Province's Saudi citizens toward PGT is found to be low. Increasing their perception toward such technology is needed as it is known that many chromosomal abnormalities are prevalent among this population, particularly sickle cell disease. Achieving this goal will eventually lead to decrease the burden of prevalent inherited diseases. Since Saudis' opinions are almost influenced by cultural and religious points of view, care should be given to these aspects.

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Section: Discussionmentioning

confidence: 99%

Preimplantation Genetic Testing: A Perceptual Study From the Eastern Province, Saudi Arabia

Tehsin¹,

Almutawah²,

Almutawah³

et al. 2021

Cureus

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“…Among individuals unsure about pursuing PGT, half cited technical safety as the most common concern. 58 Patient preference studies indicate that 80% of couples at risk for transmitting a monogenic disorder prefer PGT-M over alternatives such as adoption, donor gamete use, or prenatal diagnosis. 59 For patients in the United Kingdom with ADPKD, most wanted to be offered the option of PGT-M. 60 The broad application of these data to other populations is unclear because similar studies are currently limited in the United States and other parts of the world.…”

Section: Pgt-m For Pkdmentioning

confidence: 99%

“…97 Over 50% of queried patients with ADPKD reported that the safety of PGT was not clear after informed consent. 58 In clinics offering PGT in the United States, only 56% offered pretest genetic counseling, and only 84% of these instances involved certified genetic counselors. 98 Thus, a lack of standardized informed consent and pretest genetic counseling practices for PGT can lead to variability and added ethical challenges.…”

Section: Federal Regulations and Professional Self-regulationmentioning

confidence: 99%

State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies

Thompson,

Babayev,

McGowan

et al. 2023

JASN

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There is a broad phenotypic spectrum of monogenic polycystic kidney diseases (PKD). These disorders often involve cilia-related genes and lead to the development of fluid-filled cysts and eventual kidney function decline and failure. Preimplantation genetic testing for monogenic disorders (PGT-M) has moved into the clinical realm. It allows prospective parents to avoid passing on heritable diseases to their children, including monogenic PKD. The PGT-M process involves embryo generation via in vitro fertilization, with subsequent testing of embryos and selective transfer of those that do not harbor the specific disease-causing variant(s). There is a growing body of literature supporting the success of PGT-M for autosomal dominant and autosomal recessive PKD, although with important technical limitations in some cases. This technology can be applied to many other types of monogenic PKD and ciliopathies despite the lack of existing reports in the literature. PGT-M for monogenic PKD, like other forms of assisted reproductive technology, raises important ethical questions. When considering PGT-M for kidney diseases, as well as the potential to avoid disease in future generations, there are regulatory and ethical considerations. These include minimal government regulation and unstandardized consent processes, potential technical errors, high cost and equity concerns, risks associated with pregnancy for mothers with kidney disease, and the impact on all involved in the process, including the children made possible with this technology.

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“…Al fine di facilitare le decisioni riguardanti la pianificazione familiare e di migliorare l'accesso a tali servizi, è opportuno fornire alle pazienti informazioni dettagliate sulle opzioni relative alle tecniche di procreazione medicalmente assistita (PMA) (6,13,15). Negli ultimi decenni, la fecondazione in vitro di terza generazione (IVF) e il test genetico preimpianto (PGT) sono stati utilizzati con successo per garantire la nascita di bambini non affetti da ADPKD (14,16).…”

Section: Tecniche DI Procreazione Medicalmente Assistita (Pma)unclassified

“…Dalla letteratura emerge che le donne con policistosi renale tendono ad avere meno gravidanze. Infatti, solo il 45% delle pazienti in età fertile ha l'intenzione di avere figli, un numero ancora inferiore se le donne presentano già un'insufficienza renale cronica (chronic kidney disease, CKD) (6,7). Questa ridotta propensione alla maternità è correlata principalmente alla preoccupazione riguardante l'ereditarietà della malattia.…”

Section: Adpkd E Il Desiderio DI Maternitàunclassified

The crucial role of the nephrologist in the management of pregnancy in women with adult autosomal dominant polycystic kidney disease

Tunesi,

De Rosa,

Catania

et al. 2023

G Clin Nefrol Dial

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Autosomal dominant polycystic kidney disease (ADPKD) is a genetic kidney disease characterized by gradual kidney enlargement and progressive renal function loss. Pregnancy is a significant risk factor for adverse maternal and fetal outcomes in chronic kidney disease (CKD), regardless of the nephropathy. Women with ADPKD often face concerns about worsening their renal condition and passing the disease on to their offspring. Recent studies show better outcomes due to improved pregnancy surveillance and prior counseling. Risk factors for poor fetal and maternal outcomes include advanced maternal age, pre-existing hypertension, urinary infections, proteinuria, and renal failure. Collaboration between nephrologists and gynecologists is essential for addressing clinically significant concerns in pregnant women with ADPKD. Nephrologists should play an active role in assisting and supporting pregnant ADPKD patients as part of a multidisciplinary team.

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The fertility willingness and acceptability of preimplantation genetic testing in Chinese patients with autosomal dominant polycystic kidney disease

Cited by 7 publications

References 28 publications

Preimplantation Genetic Testing: A Perceptual Study From the Eastern Province, Saudi Arabia

Preimplantation Genetic Testing: A Perceptual Study From the Eastern Province, Saudi Arabia

State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies

The crucial role of the nephrologist in the management of pregnancy in women with adult autosomal dominant polycystic kidney disease

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