{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T08:55:26Z","timestamp":1780044926695,"version":"3.53.1"},"reference-count":90,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>With the advent of highly effective modulator therapies, many people with cystic fibrosis (CF) are living longer, healthier lives. Pregnancy rates for women with CF more than doubled between 2019 and 2021, reflecting increases in both planned and unplanned pregnancies. For men with CF, CF-associated infertility can be mitigated with assistive reproductive technology, yet patient knowledge of these challenges and options is variable. Preconception and prenatal counseling for individuals with CF and for parents of children with CF who wish to expand their families requires nuanced discussions to promote informed reproductive decisions, drawing from a combination of standard practice recommendations and CF-specific assessments. This review article synthesizes the current literature and practice recommendations regarding reproductive counseling and care in CF, outlining the role of genetic counseling, carrier screening, teratogen counseling, in vitro fertilization and pre-implantation genetic diagnosis, and careful assessment and management of cystic fibrosis-related diabetes when present. Via a multidisciplinary, patient-centered approach, clinicians can support adults with CF and parents of children with CF as they make informed reproductive decisions and embark on family planning.<\/jats:p>","DOI":"10.3390\/life13071545","type":"journal-article","created":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T01:43:22Z","timestamp":1689212602000},"page":"1545","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era"],"prefix":"10.3390","volume":"13","author":[{"given":"Julie","family":"McGlynn","sequence":"first","affiliation":[{"name":"Gynecology and Reproductive Sciences, Department of Obstetrics, Yale School of Medicine, New Haven, CT 06510, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan K.","family":"DeCelie-Germana","sequence":"additional","affiliation":[{"name":"Zucker School of Medicine at Northwell Division of Pediatric Pulmonary, and Cystic Fibrosis Center, Cohen Children\u2019s Medical Center, New Hyde Park, NY 11040, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3694-9122","authenticated-orcid":false,"given":"Catherine","family":"Kier","sequence":"additional","affiliation":[{"name":"Renaissance School of Medicine at Stony Brook, Department of Pediatrics, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8119-7559","authenticated-orcid":false,"given":"Elinor","family":"Langfelder-Schwind","sequence":"additional","affiliation":[{"name":"The Cystic Fibrosis Center, Department of Pulmonary Medicine, Lenox Hill Hospital, Northwell Health, New York, NY 10075, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1992","DOI":"10.1056\/NEJMra043184","article-title":"Cystic fibrosis","volume":"352","author":"Rowe","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"ref_2","unstructured":"(2023, May 02). The Clinical and Functional Translation of CFTR (CFTR2) Project. Available online: www.CFTR2.org."},{"key":"ref_3","unstructured":"Cystic Fibrosis Foundation (2022). Cystic Fibrosis Foundation Patient Registry 2021 Annual Data Report, Cystic Fibrosis Foundation."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1016\/S0140-6736(19)32597-8","article-title":"Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: A double-blind, randomised, phase 3 trial","volume":"394","author":"Heijerman","year":"2019","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.clinthera.2023.01.016","article-title":"The Impact of Highly Effective Cystic Fibrosis Transmembrane Conductance Regulator Modulators on the Health of Female Subjects with Cystic Fibrosis","volume":"45","author":"Shteinberg","year":"2023","journal-title":"Clin. Ther."},{"key":"ref_6","unstructured":"(2023, March 31). Vertex Announces US FDA Approval for Kalydeco (ivacaftor) to Treat Eligible Infants with CF Ages 1 Month and Older. Available online: https:\/\/investors.vrtx.com\/news-releases\/news-release-details\/vertex-announces-us-fda-approval-kalydecor-ivacaftor-treat#:~:text=BOSTON%20%2D%2D(BUSINESS%20WIRE)%2D%2D,one%20mutation%20in%20their%20cystic."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"106878","DOI":"10.1016\/j.rmed.2022.106878","article-title":"Who are the 10%?\u2014Non eligibility of cystic fibrosis (CF) patients for highly effective modulator therapies","volume":"199","author":"Desai","year":"2022","journal-title":"Respir. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1177\/0884533615591604","article-title":"Nutrition Management of Cystic Fibrosis in the 21st Century","volume":"30","author":"Schindler","year":"2015","journal-title":"Nutr. Clin. Pract."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.jpeds.2016.10.045","article-title":"Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era","volume":"181","author":"Coffey","year":"2017","journal-title":"J. Pediatr."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Mueller, R. Prognostic imagination: Genetic counseling amidst therapeutic innovation and evolving futures. J. Genet. Couns., 2022.","DOI":"10.1002\/jgc4.1660"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"S75","DOI":"10.1002\/ppul.25620","article-title":"Family-building and parenting considerations for people with cystic fibrosis","volume":"57","author":"Kazmerski","year":"2022","journal-title":"Pediatr. Pulmonol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"S89","DOI":"10.1002\/ppul.25703","article-title":"Optimizing sexual and reproductive health across the lifespan in people with cystic fibrosis","volume":"57","author":"West","year":"2022","journal-title":"Pediatr. Pulmonol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e001289","DOI":"10.1136\/bmjresp-2022-001289","article-title":"Prospectively evaluating maternal and fetal outcomes in the era of CFTR modulators: The MAYFLOWERS observational clinical trial study design","volume":"9","author":"Jain","year":"2022","journal-title":"BMJ Open Respir. Res."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"220005","DOI":"10.1183\/20734735.0005-2022","article-title":"Management of pregnancy in cystic fibrosis","volume":"18","author":"Montemayor","year":"2022","journal-title":"Breathe"},{"key":"ref_15","unstructured":"(2023, March 31). Cystic Fibrosis Reproductive and Sexual Health Collaborative Guide. Available online: https:\/\/cfreshc.org\/SRH-Guide."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"23743735221077527","DOI":"10.1177\/23743735221077527","article-title":"Engaging Stakeholders in the Development of a Reproductive Goals Decision AID for Women with Cystic Fibrosis","volume":"9","author":"Stransky","year":"2022","journal-title":"J. Patient Exp."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1002\/ppul.24344","article-title":"Pursuing parenthood with cystic fibrosis: Reproductive health and parenting concerns in individuals with cystic fibrosis","volume":"54","author":"Hailey","year":"2019","journal-title":"Pediatr. Pulmonol."},{"key":"ref_18","first-page":"18","article-title":"Implications of fatherhood in cystic fibrosis","volume":"31","author":"Bianco","year":"2019","journal-title":"Paediatr. Respir. Rev."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.1111\/jocn.14229","article-title":"The experience of men and women with cystic fibrosis who have become a parent: A qualitative study","volume":"27","author":"Jessup","year":"2018","journal-title":"J. Clin. Nurs."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.srhc.2018.11.004","article-title":"Childbearing concerns, information needs and preferences of women with cystic fibrosis: An online discussion group","volume":"19","author":"Holton","year":"2019","journal-title":"Sex Reprod. Healthc."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.jcf.2022.02.002","article-title":"Men\u2019s sexual and reproductive health in cystic fibrosis in the era of highly effective modulator therapies-A qualitative study","volume":"21","author":"Clarke","year":"2022","journal-title":"J. Cyst. Fibros."},{"key":"ref_22","first-page":"23","article-title":"Transition to adult care in cystic fibrosis: The challenges and the structure","volume":"41","author":"Singh","year":"2022","journal-title":"Paediatr. Respir. Rev."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1016\/j.pec.2018.06.004","article-title":"Cystic fibrosis-related education: Are we meeting patient and caregiver expectations?","volume":"101","author":"Lonabaugh","year":"2018","journal-title":"Patient Educ. Couns."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s10897-005-9014-3","article-title":"A new definition of Genetic Counseling: National Society of Genetic Counselors\u2019 Task Force report","volume":"15","author":"Resta","year":"2006","journal-title":"J. Genet. Couns."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1002\/jgc4.1609","article-title":"Motivational interviewing for genetic counseling: A unified framework for persuasive and equipoise conversations","volume":"31","author":"Resnicow","year":"2022","journal-title":"J. Genet. Couns."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.jcf.2018.11.014","article-title":"The increasing challenge of genetic counseling for cystic fibrosis","volume":"18","author":"Foil","year":"2019","journal-title":"J. Cyst. Fibros."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s10897-016-9978-1","article-title":"Attitudes Toward Discussing Approved and Investigational Treatments for Cystic Fibrosis in Prenatal Genetic Counseling Practice","volume":"26","author":"Elsas","year":"2017","journal-title":"J. Genet. Couns."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"a036640","DOI":"10.1101\/cshperspect.a036640","article-title":"Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders","volume":"10","author":"McGlynn","year":"2020","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.rbms.2021.05.001","article-title":"Assessment of a novel genetic counselling intervention to inform assisted reproductive technology treatments and other family-building options in adults with cystic fibrosis","volume":"13","author":"Kushary","year":"2021","journal-title":"Reprod. Biomed. Soc. Online"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"(2017). Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet. Gynecol., 129, e41\u2013e55.","DOI":"10.1097\/AOG.0000000000001952"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1177\/1753495X14554022","article-title":"Pregnancy and cystic fibrosis: Approach to contemporary management","volume":"7","author":"Geake","year":"2014","journal-title":"Obstet. Med."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.jpeds.2010.05.018","article-title":"Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function","volume":"157","author":"Collaco","year":"2010","journal-title":"J. Pediatr."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1086\/676882","article-title":"Infection prevention and control guideline for cystic fibrosis: 2013 update","volume":"35","author":"Saiman","year":"2014","journal-title":"Infect. Control. Hosp. Epidemiol."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Jain, R., and Taylor-Cousar, J.L. (2021). Fertility, Pregnancy and Lactation Considerations for Women with CF in the CFTR Modulator Era. J. Pers. Med., 11.","DOI":"10.3390\/jpm11050418"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2195","DOI":"10.1016\/S0140-6736(20)32542-3","article-title":"Cystic fibrosis","volume":"397","author":"Shteinberg","year":"2021","journal-title":"Lancet"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"S95","DOI":"10.1016\/j.jcf.2019.08.024","article-title":"Female reproductive health in cystic fibrosis","volume":"18","author":"Hughan","year":"2019","journal-title":"J. Cyst. Fibros."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1097\/NMC.0000000000000812","article-title":"Paths to Motherhood for Women with Cystic Fibrosis","volume":"47","author":"Bray","year":"2022","journal-title":"MCN Am. J. Matern. Child Nurs."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1097\/AOG.0000000000004959","article-title":"Trends in and Outcomes of Deliveries Complicated by Cystic Fibrosis","volume":"140","author":"Schmidt","year":"2022","journal-title":"Obstet. Gynecol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/j.jcf.2020.12.011","article-title":"Elexacafator\/tezacaftor\/ivacaftor resolves subfertility in females with CF: A two center case series","volume":"20","author":"Goodwin","year":"2021","journal-title":"J. Cyst. Fibros."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Peng, G., Taylor-Cousar, J.L., Lee, M., Keller, A., West, N.E., Kazmerski, T.M., Goralski, J.L., Aitken, M.L., Roe, A.H., and Hadjiliadis, D. (J. Cyst. Fibros., 2023). Association between unplanned pregnancies and maternal exacerbations in cystic fibrosis, J. Cyst. Fibros., epub Online ahead of print.","DOI":"10.1016\/j.jcf.2023.03.020"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1901208","DOI":"10.1183\/13993003.01208-2019","article-title":"ERS\/TSANZ Task Force Statement on the management of reproduction and pregnancy in women with airways diseases","volume":"55","author":"Middleton","year":"2020","journal-title":"Eur. Respir. J."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.jcf.2021.07.019","article-title":"Pregnancy in cystic fibrosis: Review of the literature and expert recommendations","volume":"21","author":"Jain","year":"2022","journal-title":"J. Cyst. Fibros."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1513\/AnnalsATS.201211-108OC","article-title":"Long-term effects of pregnancy and motherhood on disease outcomes of women with cystic fibrosis","volume":"10","author":"Schechter","year":"2013","journal-title":"Ann. Am. Thorac. Soc."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"98.e1","DOI":"10.1016\/j.ajog.2014.07.018","article-title":"Medical and obstetric complications among pregnant women with cystic fibrosis","volume":"212","author":"Patel","year":"2015","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.jcf.2020.09.002","article-title":"Baseline Cystic fibrosis disease severity has an adverse impact on pregnancy and infant outcomes, but does not impact disease progression","volume":"20","author":"Reiter","year":"2021","journal-title":"J. Cyst. Fibros."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.jcf.2019.06.003","article-title":"Pregnancy outcome in women with cystic fibrosis and poor pulmonary function","volume":"19","author":"Reynaud","year":"2020","journal-title":"J. Cyst. Fibros."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"4","DOI":"10.3109\/14767058.2016.1161747","article-title":"Maternal co-morbidities and neonatal outcomes associated with cystic fibrosis","volume":"30","author":"Jelin","year":"2017","journal-title":"J. Matern. Fetal. Neonatal Med."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1542\/peds.41.1.7","article-title":"Infertility in male patients with cystic fibrosis","volume":"41","author":"Denning","year":"1968","journal-title":"Pediatrics"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.21037\/tau.2020.04.05","article-title":"Genetics of CFTR and male infertility","volume":"10","author":"Bieniek","year":"2021","journal-title":"Transl. Androl. Urol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1164\/ajrccm.153.2.8564145","article-title":"Cystic fibrosis 3849+10kb C > T mutation associated with severe pulmonary disease and male fertility","volume":"153","author":"Dreyfus","year":"1996","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1378\/chest.118.4.1059","article-title":"Fertility in men with cystic fibrosis: An update on current surgical practices and outcomes","volume":"118","author":"McCallum","year":"2000","journal-title":"Chest"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1016\/j.fertnstert.2014.01.033","article-title":"Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens","volume":"101","author":"Lu","year":"2014","journal-title":"Fertil. Steril."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.21037\/tau-19-681","article-title":"How do we counsel men with obstructive azoospermia due to CF mutations?-a review of treatment options and outcomes","volume":"10","author":"Persily","year":"2021","journal-title":"Transl. Androl. Urol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"140","DOI":"10.4103\/aja.aja_48_20","article-title":"Sperm retrieval and intracytoplasmic sperm injection outcomes in men with cystic fibrosis disease versus congenital bilateral absence of the vas deferens","volume":"23","author":"McBride","year":"2021","journal-title":"Asian J. Androl."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"469580231159488","DOI":"10.1177\/00469580231159488","article-title":"Provider Perspectives on Fertility and Fertility Preservation Discussions Among Women with Cystic Fibrosis","volume":"60","author":"Corcoran","year":"2023","journal-title":"Inquiry"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1177\/2374373518778861","article-title":"\u201cIf We Would Have Known\u201d: A Couple\u2019s Regret Over a Missed Opportunity to Have a Biological Child After Lung Transplantation","volume":"5","author":"Ladores","year":"2018","journal-title":"J. Patient Exp."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.mayocp.2019.10.040","article-title":"Fertility Preservation for Transgender Individuals: A Review","volume":"95","author":"Ainsworth","year":"2020","journal-title":"Mayo Clin. Proc."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1002\/pd.6200","article-title":"Views of patients and parents of children with genetic disorders on population-based expanded carrier screening","volume":"42","author":"Woudstra","year":"2022","journal-title":"Prenat. Diagn."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"104075","DOI":"10.1016\/j.ejmg.2020.104075","article-title":"Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition","volume":"63","author":"Thomas","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/j.mcna.2019.06.002","article-title":"Family Health History: The First Genetic Test in Precision Medicine","volume":"103","author":"Bennett","year":"2019","journal-title":"Med. Clin. N. Am."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Shraga, R., Yarnall, S., Elango, S., Manoharan, A., Rodriguez, S.A., Bristow, S.L., Kumar, N., Niknazar, M., Hoffman, D., and Ghadir, S. (2017). Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening. BMC Genet., 18.","DOI":"10.1186\/s12863-017-0570-y"},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"(2017). Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine. Obstet. Gynecol., 129, e35\u2013e40.","DOI":"10.1097\/AOG.0000000000001951"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"2050","DOI":"10.1093\/humrep\/deab087","article-title":"Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population","volume":"36","author":"Capalbo","year":"2021","journal-title":"Hum. Reprod."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1038\/s41436-021-01203-z","article-title":"Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: A practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"23","author":"Gregg","year":"2021","journal-title":"Genet. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1002\/pd.5975","article-title":"Challenges in providing residual risks in carrier testing","volume":"41","author":"Nussbaum","year":"2021","journal-title":"Prenat. Diagn."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1038\/s41436-020-0822-5","article-title":"CFTR variant testing: A technical standard of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"Deignan","year":"2020","journal-title":"Genet. Med."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1111\/bioe.12932","article-title":"To offer or request? Disclosing variants of uncertain significance in prenatal testing","volume":"35","author":"Watts","year":"2021","journal-title":"Bioethics"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.fertnstert.2020.06.005","article-title":"Cystic fibrosis carrier screening using next generation sequencing: A cautionary tale","volume":"114","author":"Coward","year":"2020","journal-title":"Fertil. Steril."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1093\/humrep\/dei382","article-title":"Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders","volume":"21","author":"Fiorentino","year":"2006","journal-title":"Hum. Reprod."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/ejhg.2015.99","article-title":"The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: Toward an international consensus","volume":"24","author":"Girardet","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/pd.5662","article-title":"The role of prenatal diagnosis following preimplantation genetic testing for single-gene conditions: A historical overview of evolving technologies and clinical practice","volume":"40","author":"Hardy","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"100334","DOI":"10.1016\/j.gim.2022.10.014","article-title":"Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions","volume":"25","author":"Hoskovec","year":"2023","journal-title":"Genet. Med."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1007\/s10897-011-9363-z","article-title":"Shock, adjust, decide: Reproductive decision making in cystic fibrosis (CF) carrier couples\u2014A qualitative study","volume":"20","author":"Myring","year":"2011","journal-title":"J. Genet. Couns."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/j.jpedsurg.2012.02.019","article-title":"A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon","volume":"47","author":"Carlyle","year":"2012","journal-title":"J. Pediatr. Surg."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1007\/BF01076961","article-title":"Prenatal diagnosis of the fetus with cystic fibrosis and meconium ileus","volume":"12","author":"Irish","year":"1997","journal-title":"Pediatr. Surg. Int."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1007\/s10897-018-0220-1","article-title":"Pediatric and Adult Recommendations Vary for Sibling Testing in Cystic Fibrosis","volume":"27","author":"Brown","year":"2018","journal-title":"J. Genet. Couns."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1136\/adc.77.6.501","article-title":"Confidential inquiry into families with two siblings with cystic fibrosis","volume":"77","author":"Lane","year":"1997","journal-title":"Arch. Dis. Child"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1080\/14647273.2019.1656824","article-title":"Current status of fertility and family formation in men with cystic fibrosis","volume":"24","author":"Bourke","year":"2021","journal-title":"Hum. Fertil."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1002\/ncp.10899","article-title":"Update on the management of vitamins and minerals in cystic fibrosis","volume":"37","author":"Sankararaman","year":"2022","journal-title":"Nutr. Clin. Pract."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1159\/000444088","article-title":"Safety of Drugs during Pregnancy and Breastfeeding in Cystic Fibrosis Patients","volume":"91","author":"Panchaud","year":"2016","journal-title":"Respiration"},{"key":"ref_81","unstructured":"Vertex Pharmaceuticals Incorporated (2023, April 23). Trikafta (Elexacaftor\/Tezacaftor\/Ivacaftor) [Package Insert], Available online: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2023\/217660s000lbl.pdf."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.jcf.2021.03.006","article-title":"Maternal and fetal outcomes following elexacaftor-tezacaftor-ivacaftor use during pregnancy and lactation","volume":"20","author":"Jain","year":"2021","journal-title":"J. Cyst. Fibros."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.jcf.2022.10.004","article-title":"Congenital bilateral cataracts in newborns exposed to elexacaftor-tezacaftor-ivacaftor in utero and while breast feeding","volume":"21","author":"Jain","year":"2022","journal-title":"J. Cyst. Fibros."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.jcf.2021.03.018","article-title":"Normal pancreatic function and false-negative CF newborn screen in a child born to a mother taking CFTR modulator therapy during pregnancy","volume":"20","author":"Fortner","year":"2021","journal-title":"J. Cyst. Fibros."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.jcf.2022.04.005","article-title":"A case report of CFTR modulator administration via carrier mother to treat meconium ileus in a F508del homozygous fetus","volume":"21","author":"Szentpetery","year":"2022","journal-title":"J. Cyst. Fibros."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.2337\/dc10-1768","article-title":"Clinical care guidelines for cystic fibrosis-related diabetes: A position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society","volume":"33","author":"Moran","year":"2010","journal-title":"Diabetes Care"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1S","DOI":"10.1378\/chest.125.1_suppl.1S","article-title":"Cystic fibrosis adult care: Consensus conference report","volume":"125","author":"Yankaskas","year":"2004","journal-title":"Chest"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1111\/aogs.13185","article-title":"Pregnancy outcome in women with cystic fibrosis-related diabetes","volume":"96","author":"Reynaud","year":"2017","journal-title":"Acta Obstet. Gynecol. Scand."},{"key":"ref_89","first-page":"100289","article-title":"Gestational and pregestational diabetes in pregnant women with cystic fibrosis","volume":"27","author":"Oxman","year":"2022","journal-title":"J. Clin. Transl. Endocrinol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1001\/jama.2016.19438","article-title":"Folic Acid Supplementation for the Prevention of Neural Tube Defects: US Preventive Services Task Force Recommendation Statement","volume":"317","author":"Force","year":"2017","journal-title":"JAMA"}],"container-title":["Life"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-1729\/13\/7\/1545\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:11:17Z","timestamp":1760127077000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-1729\/13\/7\/1545"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,12]]},"references-count":90,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2023,7]]}},"alternative-id":["life13071545"],"URL":"https:\/\/doi.org\/10.3390\/life13071545","relation":{},"ISSN":["2075-1729"],"issn-type":[{"value":"2075-1729","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,12]]}}}