scholarly journals Preimplantation Genetic Testing for Genetic Kidney Disease

2020 ◽  
Vol 15 (9) ◽  
pp. 1231-1233
Author(s):  
Wylie Burke ◽  
Kathleen M. West
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Preimplantation Genetic Testing ◽  
Genetic Kidney Disease

scholarly journals Preimplantation Genetic Testing for Kidney Disease-Related Genes: A Laboratory’s Experience

2021 ◽  
Vol 52 (8) ◽  
pp. 684-690
Author(s):  
Jessica L. Chaperon ◽  
Nina M. Wemmer ◽  
Trudy A. McKanna ◽  
Dinah M. Clark ◽  
Maggie A. Westemeyer ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Clinical Indication ◽  
Common Disease ◽  
Reference Laboratory ◽  
Preimplantation Genetic Testing ◽  
Kidney Involvement ◽  
Molecular Genetic Diagnosis

<b><i>Introduction:</i></b> Recent literature highlights the clinical utility of genetic testing for patients with kidney disease. Genetic testing provides significant benefits for reproductive risk counseling, including the option of in vitro fertilization with preimplantation genetic testing for monogenic disease (PGT-M). PGT-M allows for a significant reduction in risk for a pregnancy affected with the familial disease. We aim to summarize our experience with PGT-M for genes with kidney involvement as either a primary or secondary feature of the disease. <b><i>Methods:</i></b> All PGT-M tests performed by the reference laboratory between September 2010 and July 2020 were reviewed for clinical indication and cases for which the disease tested included a renal component. Each patient referred for PGT-M had an existing molecular genetic diagnosis themselves or in their family. Frequency of each condition, gene, inheritance pattern, and year over year increase in referral cases was analyzed. <b><i>Results:</i></b> In the study cohort, the most common disease targeted was autosomal dominant polycystic kidney disease, caused by pathogenic variants in the <i>PKD1</i> or <i>PKD2</i> genes, which accounted for 16.5% (64/389) of cases. The 5 most common referral indications accounted for 51.9% (202/389) of the cases. Autosomal recessive inheritance accounted for 52.0% (26/50) of conditions for which PGT-M was performed. The number of PGT-M tests performed for conditions that included either primary or secondary kidney disease increased from 5 cases in 2010 to 47 cases in the 2020 study period. <b><i>Discussion/Conclusion:</i></b> These data suggest that the pursuit of PGT-M by couples at risk for passing on conditions with a kidney component is common and has significantly increased since 2010. With this rising trend of patients undergoing PGT-M and the prerequisite of molecular genetic confirmation in the PGT-M process, this study underscores the importance of the reproductive component to a molecular genetic diagnosis for patients with kidney disease, especially as the accessibility of genetic testing and utilization by nephrologists grows.

scholarly journals Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Wei-Hui Shi ◽  
Mu-Jin Ye ◽  
Song-Chang Chen ◽  
Jun-Yu Zhang ◽  
Yi-Yao Chen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Pregnancy Outcomes ◽  
Alport Syndrome ◽  
Kidney Diseases ◽  
High Rate ◽  
Singleton Pregnancy ◽  
Fetal Outcomes ◽  
Preimplantation Genetic Testing ◽  
Monogenic Diseases

BackgroundAlport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities. Mutations in COL4A5 at Xq22 accounts for 80–85% of X-linked Alport syndrome patients. Three couples were referred to our reproductive genetics clinic for prenatal or preconception counseling.MethodsPrenatal diagnoses were performed by amplifying targeted regions of COL4A5. Targeted next-generation sequencing (NGS)-based haplotype analysis or karyomapping was performed in two patients. Pregnancy outcomes in the three patients were collected and analyzed. Published Alport syndrome cases were searched in Pubmed and Embase.ResultsPrenatal diagnoses in two cases showed one fetus harbored the same pathogenic mutation as the proband and the other was healthy. The couple with an affected fetus and the patient with a family history of Alport syndrome chose to take the preimplantation genetic testing (PGT) procedure. One unaffected embryo was transferred to the uterus, and a singleton pregnancy was achieved, respectively. Two patients presented non-nephrotic range proteinuria (&lt;3 g/24 h) during pregnancy and the three cases all delivered at full-term. However, published Alport cases with chronic kidney disease or proteinuria during pregnancy were came with a high rate (75%) of adverse maternal and fetal outcomes.ConclusionThe PGT procedure performed in this study was proven to be practicable and might be expanded to be applied in other monogenic diseases. Moderate or severe renal impairments in Alport syndrome were strongly associated with adverse maternal and fetal outcomes, and baseline proteinuria was a potential predictor for pregnancy outcomes of Alport syndrome as other kidney diseases.

scholarly journals Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 692
Author(s):  
Pere Mir Pardo ◽  
José Antonio Martínez-Conejero ◽  
Julio Martín ◽  
Carlos Simón ◽  
Ana Cervero
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Male Infertility ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Male Factor ◽  
Preimplantation Genetic Testing ◽  
Female Age ◽  
Autosomal Dominant Polycystic Kidney

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and presents with genetic and clinical heterogeneity. ADPKD can also manifest extra-renally, and seminal cysts have been associated with male infertility in some cases. ADPKD-linked male infertility, along with female age, have been proposed as factors that may influence the clinical outcomes of preimplantation genetic testing (PGT) for monogenic disorders (PGT-M). Large PGT for aneuploidy assessment (PGT-A) studies link embryo aneuploidy to increasing female age; other studies suggest that embryo aneuploidy is also linked to severe male-factor infertility. We aimed to assess the number of aneuploid embryos and the number of cycles with transferable embryos in ADPKD patients after combined-PGT. The combined-PGT protocol, involving PGT-M by PCR and PGT-A by next-generation sequencing, was performed in single trophectoderm biopsies from 289 embryos in 83 PGT cycles. Transferable embryos were obtained in 69.9% of cycles. The number of aneuploid embryos and cycles with transferable embryos did not differ when the male or female had the ADPKD mutation. However, a significantly higher proportion of aneuploid embryos was found in the advanced maternal age (AMA) group, but not in the male factor (MF) group, when compared to non-AMA and non-MF groups, respectively. Additionally, no significant differences in the percentage of cycles with transferable embryos were found in any of the groups. Our results indicate that AMA couples among ADPKD patients have an increased risk of aneuploid embryos, but ADPKD-linked male infertility does not promote an increased aneuploidy rate.

scholarly journals Preimplantation Genetic Testing for Monogenic Kidney Disease

2020 ◽  
Vol 15 (9) ◽  
pp. 1279-1286 ◽  
Author(s):  
Rozemarijn Snoek ◽  
Marijn F. Stokman ◽  
Klaske D. Lichtenbelt ◽  
Theodora C. van Tilborg ◽  
Cindy E. Simcox ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Kidney Diseases ◽  
Medical Center ◽  
Live Birth Rate ◽  
Genetic Diagnostics ◽  
Adult Onset ◽  
Polycystic Kidney ◽  
Preimplantation Genetic Testing

Background and objectivesA genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as preimplantation genetic diagnostics) is a reproductive technology that helps prospective parents to prevent passing on (a) disease-causing mutation(s) to their offspring. Here, we provide a clinical overview of 25 years of preimplantation genetic testing for monogenic kidney disease in The Netherlands.Design, setting, participants, & measurements This is a retrospective cohort study of couples counseled on preimplantation genetic testing for monogenic kidney disease in the national preimplantation genetic testing expert center (Maastricht University Medical Center+) from January 1995 to June 2019. Statistical analysis was performed through chi-squared tests.ResultsIn total, 98 couples were counseled regarding preimplantation genetic testing, of whom 53% opted for preimplantation genetic testing. The most frequent indications for referral were autosomal dominant polycystic kidney disease (38%), Alport syndrome (26%), and autosomal recessive polycystic kidney disease (9%). Of couples with at least one preimplantation genetic testing cycle with oocyte retrieval, 65% experienced one or more live births of an unaffected child. Of couples counseled, 38% declined preimplantation genetic testing for various personal and technical reasons.ConclusionsReferrals, including for adult-onset disease, have increased steadily over the past decade. Though some couples decline preimplantation genetic testing, in the couples who proceed with at least one preimplantation genetic testing cycle, almost two thirds experienced at least one live birth rate.

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease

2019 ◽  
Vol 34 (5) ◽  
pp. 949-958 ◽  
Author(s):  
V Berckmoes ◽  
P Verdyck ◽  
P De Becker ◽  
A De Vos ◽  
G Verheyen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Clinical Outcome ◽  
Polycystic Kidney Disease ◽  
Polycystic Kidney ◽  
Preimplantation Genetic Testing ◽  
Factors Influencing
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