Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination

Snoek, Rozemarijn; Graaf, Rieke van der; Meinderts, Jildau R.; Reekum, Franka van; Bloemenkamp, Kitty W. M.; Knoers, Nine V A M; Eerde, Albertien M. van; Lely, A. Titia

doi:10.1159/000505781

Cited by 13 publications

(12 citation statements)

References 25 publications

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“…Additionally, in some ADPKD families, hypomorphic alleles or modifier variants complicate genetic counseling and preimplantation genetic testing because penetrance may be variable (42)(43)(44). Finally, prospective parents are counseled on the maternal health risks related to the in vitro fertilization/intra-cytoplastmatic sperm injection (ICSI) needed for preimplantation genetic testing (e.g., ovarian hyperstimulation syndrome and postretrieval bleeding or infection) and risks related to pregnancy in patients with CKD in general, which rise with advancement in CKD stage (14,30,45,46).…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the risk of having affected children and the options regarding family planning can be discussed (5,10). Preconception counseling encompasses everything from expected pregnancy outcomes for mother and child to recurrence risk, invasive prenatal diagnosis, and preimplantation genetic testing (formerly known as preimplantation genetic diagnostics) (14). In The Netherlands, prospective parents can be counseled on the latter two options when, due to the severity of the kidney disease in the family, they might want to prevent the birth of an affected child.…”

Section: Introductionmentioning

confidence: 99%

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Preimplantation Genetic Testing for Monogenic Kidney Disease

Snoek

Stokman

Lichtenbelt

et al. 2020

CJASN

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Preimplantation Genetic Testing for Monogenic Kidney Disease

Snoek

Stokman

Lichtenbelt

et al. 2020

CJASN

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“…In this complex setting, pre-pregnancy counseling is necessary and useful to inform women about the potential maternal and fetal pregnancy-related risks [10]. Furthermore, strict and multidisciplinary follow-up is mandatory to provide the best balance between maternal and fetal needs, to identify and manage complications and plan delivery [11].…”

Section: Pregnancy In Women With Renal Disease: General Considerationsmentioning

confidence: 99%

Nutritional Challenges in Pregnant Women with Renal Diseases: Relevance to Fetal Outcomes

et al. 2020

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Pregnancy in women affected by chronic kidney disease (CKD) has become more common in recent years, probably as a consequence of increased CKD prevalence and improvements in the care provided to these patients. Management of this condition requires careful attention since many clinical aspects have to be taken into consideration, including the reciprocal influence of the renal disease and pregnancy, the need for adjustment of the medical treatments and the high risk of maternal and obstetric complications. Nutrition assessment and management is a crucial step in this process, since nutritional status may affect both maternal and fetal health, with potential effects also on the future development of adult diseases in the offspring. Nevertheless, few data are available on the nutritional management of pregnant women with CKD and the main clinical indications are based on small case series or are extrapolated from the general recommendations for non-pregnant CKD patients. In this review, we discuss the main issues regarding the nutritional management of pregnant women with renal diseases, including CKD patients on conservative treatment, patients on dialysis and kidney transplant patients, focusing on their relevance on fetal outcomes and considering the peculiarities of this population and the approaches that could be implemented into clinical practice.

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“…This underscores the importance of investigating pregnancy outcomes in specific renal disease phenotypes to ensure adequate pre-pregnancy counselling and care. 324 Our cohort mainly consisted of women with early CKD (stage 1-2) or only hematuria without proteinuria or eGFR loss, which seems to be the disease stage the majority of COL4A3-5 women are in when they are in the reproductive age. [338][339][340][341][342][343][344][345][346][347] For 54% the data on pre-pregnancy CKD stage was missing, likely because they had subclinical or no renal symptoms.…”

Section: Discussionmentioning

confidence: 99%

“…Thus, providing patients with tailored etiology-based pre-pregnancy counselling and care is currently not possible. 324 One of the kidney diseases in which little is known about pregnancy outcomes is Alport syndrome (AS). With a prevalence of 1:17,000 to 1:53,000, AS is one of the most frequent genetic kidney diseases.…”

Section: Introductionmentioning

confidence: 99%

Renal genetics in transition

Snoek¹

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In chronic kidney disease (CKD) the kidneys lose their ability to filter, reabsorb and secrete water, electrolytes and other small molecules from the blood into the urine, and keep larger molecules such as proteins in. 1 The prevalence of CKD is estimated to be 10-13%, and continually increasing. [2][3][4] Disease burden is high in CKD, as it is associated with increased risks of cardiovascular morbidity, premature mortality and decreased quality of life. [2][3][4] CKD is defined by decreased glomerular filtration rate (GFR) or the amount of protein lost in the urine (proteinuria), for at least 3 months. [5][6][7][8] GFR and degree of proteinuria are also used to determine the severity of renal disease, from mild disease in stage 1 to end-stage renal disease (ESRD) in stage 5. 5,[9][10][11] In ESRD the kidneys are failing, requiring renal replacement therapy in the form of dialysis or a renal transplant. 5,[9][10][11] Underlying causes of CKDThe criteria to stage CKD are based on laboratory findings, and do not depend on nor characterize the underlying cause for the renal disease. [5][6][7][8] Nevertheless, identifying the underlying cause is essential, because it gives information regarding the prognosis and can influence treatment decisions (addressed in detail below).To identify the underlying cause, the tools routinely used are blood and urine investigations, renal ultrasounds or computed tomography, and invasive renal biopsies. [5][6][7][8][12][13][14] However, accurately determining the underlying cause in a specific patient can prove difficult. This is because CKD can be caused by many different disorders that often have indistinguishable clinical features. The type of diseases that cause CKD range from highly prevalent diseases such as diabetes and hypertension, to less prevalent conditions like IgA nephropathy and finally to very rare disorders, for example Fabry disease. 1,15,16 Monogenic renal diseasesInterestingly, the very rare causes of CKD are often monogenic kidney diseases (MGKD). MGKD are the result of mutations in genes encoding proteins essential for renal structure or function. 17 Also called Mendelian diseases, after their discoverer Gregor Mendel (1822-1884), monogenic diseases are caused by defects in a single gene. 18,19 The defect can be in one autosomal allele (autosomal dominant disease), two autosomal alleles (autosomal recessive disease), or it can be in a gene on the X or Y chromosome (sex linked disease). 18,19 12 Chapter 1 Figure 1.1 | The process of gene panel testing for renal disease: gene panel design with the use of next-generation sequencing techniques, variant calling, and interpretation, as well as the infl uence of phenotyping and segregation analysis in variant interpretation and translating the result back to the individual patient.Defi nite calling of pathogenicity is impossible however, if a variant is detected in a gene that has not previously been associated with the patient's phenotype. 19,39 In those cases, in vitro or in vivo functional studies can be performed...

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Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination

Cited by 13 publications

References 25 publications

Preimplantation Genetic Testing for Monogenic Kidney Disease

Preimplantation Genetic Testing for Monogenic Kidney Disease

Nutritional Challenges in Pregnant Women with Renal Diseases: Relevance to Fetal Outcomes

Renal genetics in transition

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