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Introduction: Family planning and reproductive care are essential but complex aspects of lifecycle management for individuals with autosomal dominant polycystic kidney disease (ADPKD), given the potential genetic transmission and pregnancy-related complications. In this qualitative study, we studied the experiences and perspectives of patients with ADPKD and clinicians to identify areas for potential improvement in reproductive lifecycle care., Methods: Focus group discussions (FGDs) were conducted in the Netherlands with patients with ADPKD, both men and women, who had children through varied reproductive choices; and clinicians, including (pediatric) nephrologists, obstetric gynecologists and geneticists. Thematic analysis, utilizing a grounded theory approach, was performed on verbatim transcriptions of recordings, followed by consensus discussions to finalize themes., Results: Nine focus groups involving 31 participants (16 patients and 15 physicians) identified 6 key themes. These included the need for timely and comprehensive information dissemination from puberty on, understanding patient-specific decision-making factors, improving tailored psychosocial guidance and communication, the need for systematic efforts to take care of missed (minor) at-risk patients, addressing inequities in access to care, and improving multidisciplinary collaboration., Conclusions: This study represents the first qualitative study of patient and physician perspectives on reproductive lifecycle care for ADPKD. We present valuable insights into factors influencing patients' reproductive decision-making, a comprehensive comparison between the perspectives of patients and clinicians on family planning and follow-up care of minors at risk for ADPKD, and recommendations for enhancing overall care quality. Incorporating these insights into clinical care could enhance patient-centered care and foster interdisciplinary collaborations to further improve the quality of reproductive health care services for individuals with ADPKD., (© 2024 International Society of Nephrology. Published by Elsevier Inc.)

Background: Noninvasive prenatal testing by cell-free DNA analysis is offered to pregnant women worldwide to screen for fetal aneuploidies. In noninvasive prenatal testing, the fetal fraction of cell-free DNA in the maternal circulation is measured as a quality control parameter. Given that fetal cell-free DNA originates from the placenta, the fetal fraction might also reflect placental health and maternal pregnancy adaptation., Objective: This study aimed to assess the association between the fetal fraction and adverse pregnancy outcomes., Study Design: We performed a retrospective cohort study of women with singleton pregnancies opting for noninvasive prenatal testing between June 2018 and June 2019 within the Dutch nationwide implementation study (Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing [TRIDENT]-2). Multivariable logistic regression analysis was used to assess associations between fetal fraction and adverse pregnancy outcomes. Fetal fraction was assessed as a continuous variable and as <10th percentile, corresponding to a fetal fraction <2.5%., Results: The cohort comprised 56,110 pregnancies. In the analysis of fetal fraction as a continuous variable, a decrease in fetal fraction was associated with increased risk of hypertensive disorders of pregnancy (adjusted odds ratio, 2.27 [95% confidence interval, 1.89-2.78]), small for gestational age neonates <10th percentile (adjusted odds ratio, 1.37 [1.28-1.45]) and <2.3rd percentile (adjusted odds ratio, 2.63 [1.96-3.57]), and spontaneous preterm birth from 24 to 37 weeks of gestation (adjusted odds ratio, 1.02 [1.01-1.03]). No association was found for fetal congenital anomalies (adjusted odds ratio, 1.02 [1.00-1.04]), stillbirth (adjusted odds ratio, 1.02 [0.96-1.08]), or neonatal death (adjusted odds ratio, 1.02 [0.96-1.08]). Similar associations were found for adverse pregnancy outcomes when fetal fraction was <10th percentile., Conclusion: In early pregnancy, a low fetal fraction is associated with increased risk of adverse pregnancy outcomes. These findings can be used to expand the potential of noninvasive prenatal testing in the future, enabling the prediction of pregnancy complications and facilitating tailored pregnancy management through intensified monitoring or preventive measures., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)