nogrЭкспериментальная и клиническая гастроэнтерологияExperimental and Clinical Gastroenterology1682-8658«Global Media Technologies»10.31146/1682-8658-ecg-204-8-160-170nogr-2142Research ArticleОБЗОРREVIEWМеждународный опыт первичной профилактики муковисцидоза (часть вторая)International experience in the primary prevention of cystic fibrosis (part two)https://orcid.org/0000-0003-0503-6371КаширскаяН. Ю.KashirskayaN. Yu.noemail@neicon.ruhttps://orcid.org/0000-0001-5933-6594ПетроваН. В.PetrovaN. V.noemail@neicon.ruhttps://orcid.org/0000-0002-2293-3739ГембицкаяТ. Е.GembitskayaT. E.noemail@neicon.ruИващенкоТ. Э.IvashchenkoT. E.noemail@neicon.ruhttps://orcid.org/0000-0001-7308-7280ХавкинА. И.KhavkinA. I.gastropedclin@gmail.comНестерукО. Н.NesterukO. N.noemail@neicon.ruГинтерЕ. К.GinterE. K.noemail@neicon.ruhttps://orcid.org/0000-0002-3133-8018КуцевС. И.KutsevS. I.noemail@neicon.ruhttps://orcid.org/0000-0003-3586-3458ЗинченкоР. А.ZinchenkoR. A.noemail@neicon.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н. П. Бочкова»; Московский областной научно-исследовательский клинический институт (МОНИКИ) им. М. Ф. ВладимирскогоРоссияResearch Centre for Medical Genetics; Moscow Regional Research and Clinical Institute (“MONIKI”)Russian FederationФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н. П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian FederationФедеральное государственное бюджетное образовательное учреждение высшего образования «Первый Санкт-Петербургский Государственный Медицинский университет им. акад. И. П. Павлова» Министерства здравоохранения Российской ФедерацииРоссияI. P. Pavlov First Federal Saint - Petersburg State Medical University, Healthcare Ministry of RussiaRussian FederationНаучно-исследовательский институт Акушерства, гинекологии и репродуктологии имени Д. О. ОттаРоссияD. O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyRussian FederationГБУЗ МО «Научно-исследовательский клинический институт детства Министерства здравоохранения Московской области»РоссияResearch Clinical Institute of Childhood of the Moscow RegionRussian FederationБлаготворительный фонд «Острова»Россия“Ostrova” Charitable FoundationRussian FederationФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н. П. Бочкова»; Федеральное государственное бюджетное научное учреждение «Национальный научно-исследовательский институт общественного здоровья имени Н. А. Семашко»РоссияResearch Centre for Medical Genetics; N. A. Semashko National Research Institute of Public HealthRussian Federation20221801202308160170Copyright © Каширская Н.Ю., Петрова Н.В., Гембицкая Т.Е., Иващенко Т.Э., Хавкин А.И., Нестерук О.Н., Гинтер Е.К., Куцев С.И., Зинченко Р.А., 20232023Каширская Н.Ю., Петрова Н.В., Гембицкая Т.Е., Иващенко Т.Э., Хавкин А.И., Нестерук О.Н., Гинтер Е.К., Куцев С.И., Зинченко Р.А.Kashirskaya N.Y., Petrova N.V., Gembitskaya T.E., Ivashchenko T.E., Khavkin A.I., Nesteruk O.N., Ginter E.K., Kutsev S.I., Zinchenko R.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.nogr.org/jour/article/view/2142

Представленный текст является продолжением обзора международных исследований и руководств/рекомендаций в области первичной профилактики муковисцидоза (МВ). В этом разделе рассматриваются вопросы выбора патогенных вариантов для различных программ скрининга носительства МВ мутаций для формирования панелей, с учетом географических и этнических особенностей пар, проходящих скрининг, описываются особенности наблюдения за парами с промежуточным риском носительства, представлены взаимосвязи между скринингом на носительство и неонатальным скринингом, освещена важность своевременного информирования, включая медико-генетическое консультирование заинтересованных сторон, с учетом психосоциального статуса носителей. Отдельно представлены работы, выявившие снижение частоты рождения больных МВ во Франции, Италии и Израиле после внедрения скрининга на носительство МВ.

This text is a continuation of a review of international studies and guidelines/recommendations for primary prevention of cystic fibrosis (CF). This section reviews the selection of pathogenic variants for different CF mutation carrier screening programmes to form panels, taking into account the geographical and ethnic characteristics of the couples being screened, describes the monitoring of couples at intermediate risk of carrier, presents the relationship between carrier screening and neonatal screening, highlights the importance of timely information, including medical and genetic counselling for stakeholders, taking into account the psychosocial status. Separately, we present studies that have found a reduction in the rate of CF births in France, Italy and Israel after the introduction of CF carrier screening.

муковисцидозпреконцепционный скрининг носительстватестирование на носительствопопуляционныйобзор литературыcystic fibrosispreconceptional carrier screeningcarrier testingpopulation-basedliterature reviewReferencesBobadilla J.L., Macek Jr. M., Fine J. P., Farrell P. M. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat. 2002;19:575-606. doi: 10.1002/humu.10041.Bobadilla J.L., Macek Jr. M., Fine J. P., Farrell P. M. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat. 2002;19:575-606. doi: 10.1002/humu.10041.Cutting G. R. Genetic heterogeneity and cystic fibrosis. Hum Mutat. 2009 Jul;30(7): v. doi: 10.1002/humu.21062. PMID: 19551760.Cutting G. R. Genetic heterogeneity and cystic fibrosis. Hum Mutat. 2009 Jul;30(7): v. doi: 10.1002/humu.21062. PMID: 19551760.Kashirskaya N. Yu., Kapranov N. I., Kondratyeva E. I. Mucoviscidosis (cystic fibrosis). 2nd edition, revised and expanded. Moscow. Publishing House «MEDPRACTIKA-M», 2021, 680 p. (In Russ.) ISBN 978-5-98803-450-6.@@ Муковисцидоз. Издание 2-е., переработанное и дополненное (под редакцией Н. Ю. Каширской, Н. И. Капранова и Е. И. Кондратьевой). - М.: ИД «МЕДПРАКТИКА-М», 2021, 680 c. ISBN 978-5-98803-450-6.Kashirskaya N. Yu., Kapranov N. I., Kondratyeva E. I. Mucoviscidosis (cystic fibrosis). 2nd edition, revised and expanded. Moscow. Publishing House «MEDPRACTIKA-M», 2021, 680 p. (In Russ.) ISBN 978-5-98803-450-6.@@ Муковисцидоз. Издание 2-е., переработанное и дополненное (под редакцией Н. Ю. Каширской, Н. И. Капранова и Е. И. Кондратьевой). - М.: ИД «МЕДПРАКТИКА-М», 2021, 680 c. ISBN 978-5-98803-450-6.Cystic Fibrosis Mutation Database. www.genet.sickkids.on.ca/cftr. Accessed 01 May 2022.Cystic Fibrosis Mutation Database. www.genet.sickkids.on.ca/cftr. Accessed 01 May 2022.Castellani C., Cuppens H., Macek Jr. M., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008;7:179-96. doi: 10.1016/j.jcf.2008.03.009.Castellani C., Cuppens H., Macek Jr. M., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008;7:179-96. doi: 10.1016/j.jcf.2008.03.009.Mateu E., Calafell F., Ramos M. D., et al. Can a place of origin of the main cystic fibrosis mutations be identified? Am J Hum Genet. 2002;70:257-64. doi: 10.1086%2F338243.Mateu E., Calafell F., Ramos M. D., et al. Can a place of origin of the main cystic fibrosis mutations be identified? Am J Hum Genet. 2002;70:257-64. doi: 10.1086%2F338243.Farrell P. M., Rosenstein B. J., White T. B., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153: S4-S14. doi: 10.1016/j.jpeds.2008.05.005.Farrell P. M., Rosenstein B. J., White T. B., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153: S4-S14. doi: 10.1016/j.jpeds.2008.05.005.Bombieri C., Seia M., Castellani C. Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders. Semin Respir Crit Care Med. 2015;36(2):180-93. doi: 10.1055/s-0035-1547318.Bombieri C., Seia M., Castellani C. Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders. Semin Respir Crit Care Med. 2015;36(2):180-93. doi: 10.1055/s-0035-1547318.Chillón M., Casals T., Mercier B., Bassas L., Lissens W., Silber S., et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J. 1995;332:1475-80. doi: 10.1056/nejm199506013322204.Chillón M., Casals T., Mercier B., Bassas L., Lissens W., Silber S., et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J. 1995;332:1475-80. doi: 10.1056/nejm199506013322204.Sharer N., Schwarz M., Malone G., et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998;339:645-52. doi: 10.1056/nejm199809033391001Sharer N., Schwarz M., Malone G., et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998;339:645-52. doi: 10.1056/nejm199809033391001Massie R. J., Poplawski N., Wilcken B., et al.Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J. 2001;17:1195-200. doi: 10.1183/09031936.01.00057001.Massie R. J., Poplawski N., Wilcken B., et al.Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J. 2001;17:1195-200. doi: 10.1183/09031936.01.00057001.Roussey M., Le Bihannic A., Scotet V., et al. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations. J Inherit Metab Dis. 2007;30:613. doi: 10.1007/s10545-007-0633-8.Roussey M., Le Bihannic A., Scotet V., et al. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations. J Inherit Metab Dis. 2007;30:613. doi: 10.1007/s10545-007-0633-8.Thauvin-Robinet C., Munck A., Huet F., et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet. 2009;46:752-8. doi: 10.1136/jmg.2009.067215.Thauvin-Robinet C., Munck A., Huet F., et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet. 2009;46:752-8. doi: 10.1136/jmg.2009.067215.Castellani C., Macek M. J.r, Cassiman J. J., et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros. 2010;9(3):165-78. doi: 10.1016/j.jcf.2010.02.005.Castellani C., Macek M. J.r, Cassiman J. J., et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros. 2010;9(3):165-78. doi: 10.1016/j.jcf.2010.02.005.Gregg A. R., Aarabi M., Klugman S., et al. 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). Genet Med. 23, 1793-1806 (2021). doi: 10.1038/s41436-021-01203-z.Gregg A. R., Aarabi M., Klugman S., et al. 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). Genet Med. 23, 1793-1806 (2021). doi: 10.1038/s41436-021-01203-z.Southern K. W., Munck A. Pollitt R., et al. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros. 2007;6:57-65. doi: 10.1016/j.jcf.2006.05.008.Southern K. W., Munck A. Pollitt R., et al. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros. 2007;6:57-65. doi: 10.1016/j.jcf.2006.05.008.Kiseleva A., Klimushina M., Sotnikova E., et al. Cystic Fibrosis Polymorphic Variants in a Russian Population. Pharmgenomics Pers Med. 2020;13:679-686. doi: 10.2147/PGPM.S278806.Kiseleva A., Klimushina M., Sotnikova E., et al. Cystic Fibrosis Polymorphic Variants in a Russian Population. Pharmgenomics Pers Med. 2020;13:679-686. doi: 10.2147/PGPM.S278806.Register of patients with cystic fibrosis in the Russian Federation. 2017 / Edited by Voronkova A. Yu., Amelina E. L., Kashirskaya N. Yu., Kondratieva E. I., Krasovsky S. A., Starinova M. A., Kapranova N. I. Moscow. ID “MEDPRAKTIKA-M”, 2019, 68 p. ISBN 978-5-98803-410-0.@@ Регистр больных муковисцидозом в Российской Федерации. 2017 год. / Под редакцией А. Ю. Воронковой, Е. Л. Амелиной, Н. Ю. Каширской, Е. И. Кондратьевой, С. А. Красовского, М. А. Стариновой, Н. И. Капранова. - М.: ИД «МЕДПРАКТИКА-М», 2019, 68 с. ISBN 978-5-98803-410-0.Register of patients with cystic fibrosis in the Russian Federation. 2017 / Edited by Voronkova A. Yu., Amelina E. L., Kashirskaya N. Yu., Kondratieva E. I., Krasovsky S. A., Starinova M. A., Kapranova N. I. Moscow. ID “MEDPRAKTIKA-M”, 2019, 68 p. ISBN 978-5-98803-410-0.@@ Регистр больных муковисцидозом в Российской Федерации. 2017 год. / Под редакцией А. Ю. Воронковой, Е. Л. Амелиной, Н. Ю. Каширской, Е. И. Кондратьевой, С. А. Красовского, М. А. Стариновой, Н. И. Капранова. - М.: ИД «МЕДПРАКТИКА-М», 2019, 68 с. ISBN 978-5-98803-410-0.Dequeker E., Stuhrmann M., Morris M. A., et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet. 2009;17:51-65. doi: 10.1038/ejhg.2008.136.Dequeker E., Stuhrmann M., Morris M. A., et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet. 2009;17:51-65. doi: 10.1038/ejhg.2008.136.National Institutes of Health Consensus Development Conference Statement on Genetic Testing for Cystic Fibrosis. Genetic Testing for Cystic Fibrosis. Arch Intern Med. 1999;159(14):1529-1539. doi:10.1001/archinte.159.14.1529.National Institutes of Health Consensus Development Conference Statement on Genetic Testing for Cystic Fibrosis. Genetic Testing for Cystic Fibrosis. Arch Intern Med. 1999;159(14):1529-1539. doi:10.1001/archinte.159.14.1529.ten Kate L. P. Carrier screening for cystic fibrosis and other autosomal recessive diseases. Am J Hum Genet. 1990;47:359-61. PMCID: PMC1683720.ten Kate L. P. Carrier screening for cystic fibrosis and other autosomal recessive diseases. Am J Hum Genet. 1990;47:359-61. PMCID: PMC1683720.Brothers K.B., Bennett R. L., Cho M. K. Taking an antiracist posture in scientific publications in human genetics and genomics. Genet Med. 2021;23(6):1004-1007. doi: 10.1038/s41436-021-01109-w.Brothers K.B., Bennett R. L., Cho M. K. Taking an antiracist posture in scientific publications in human genetics and genomics. Genet Med. 2021;23(6):1004-1007. doi: 10.1038/s41436-021-01109-w.Gregg A. R., Aarabi M., Klugman S., et al. 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). Genet Med. 2021; 23, 1793-1806. doi: 10.1038/s41436-021-01203-z.Gregg A. R., Aarabi M., Klugman S., et al. 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). Genet Med. 2021; 23, 1793-1806. doi: 10.1038/s41436-021-01203-z.Castellani C., Massie J. Newborn screening and carrier screening for cystic fibrosis: alternative or complementary? Eur Respir J. 2014 Jan;43(1):20-3. doi: 10.1183/09031936.00125613.Castellani C., Massie J. Newborn screening and carrier screening for cystic fibrosis: alternative or complementary? Eur Respir J. 2014 Jan;43(1):20-3. doi: 10.1183/09031936.00125613.Hayeems R.Z., Miller F. A., Vermeulen M., et al. False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use. Pediatrics. 2017;140(5): e20170604. doi: 10.1542/peds.2017-0604.Hayeems R.Z., Miller F. A., Vermeulen M., et al. False-Positive Newborn Screening for Cystic Fibrosis and Health Care Use. Pediatrics. 2017;140(5): e20170604. doi: 10.1542/peds.2017-0604.Castellani C., Picci L., Scarpa M., et al. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers. Am J Med Genet A. 2005;135(2):142-4. doi: 10.1002/ajmg.a.30470.Castellani C., Picci L., Scarpa M., et al. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers. Am J Med Genet A. 2005;135(2):142-4. doi: 10.1002/ajmg.a.30470.Scotet V., Duguépéroux I., Saliou P., et al. Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France. Orphanet J Rare Dis. 7, 14 (2012). doi: 10.1186/1750-1172-7-14.Scotet V., Duguépéroux I., Saliou P., et al. Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France. Orphanet J Rare Dis. 7, 14 (2012). doi: 10.1186/1750-1172-7-14.Hale J. E., Parad R. B., Comeau A. M. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med. 2008;358:973-974. doi: 10.1056/nejmc0707530.Hale J. E., Parad R. B., Comeau A. M. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med. 2008;358:973-974. doi: 10.1056/nejmc0707530.Castellani C., Picci L., Tridello G., et al. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med. 2016 Feb;18(2):145-51. doi: 10.1038/gim.2015.68.Castellani C., Picci L., Tridello G., et al. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med. 2016 Feb;18(2):145-51. doi: 10.1038/gim.2015.68.Stafler P., Mei-Zahav M., Wilschanski M., et al. The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening. J Cyst Fibros. 2016 Jul;15(4):460-6. doi: 10.1016/j.jcf.2015.08.007.Stafler P., Mei-Zahav M., Wilschanski M., et al. The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening. J Cyst Fibros. 2016 Jul;15(4):460-6. doi: 10.1016/j.jcf.2015.08.007.Ahmed S., Bryant L., Hewison J. ‘Balance’ is in the eye of the beholder: providing information to support informed choices in antenatal screening via Antenatal Screening Web Resource. Health Expect. 2007;10:309-20. doi: 10.1111/j.1369-7625.2007.00455.x.Ahmed S., Bryant L., Hewison J. ‘Balance’ is in the eye of the beholder: providing information to support informed choices in antenatal screening via Antenatal Screening Web Resource. Health Expect. 2007;10:309-20. doi: 10.1111/j.1369-7625.2007.00455.x.Griffith J. M., Sorenson J. R., Jennings-Grant T., Fowler B. Development of an interactive computer-assisted instruction (ICAI) program for patient prenatal genetic screening and carrier testing for use in clinical settings. Patient Educ Couns. 2005;59:199-204. doi: 10.1016/j.pec.2004.11.007.Griffith J. M., Sorenson J. R., Jennings-Grant T., Fowler B. Development of an interactive computer-assisted instruction (ICAI) program for patient prenatal genetic screening and carrier testing for use in clinical settings. Patient Educ Couns. 2005;59:199-204. doi: 10.1016/j.pec.2004.11.007.Nolen A.A., Rhoades E. D. Update on population-based preconception and prenatal cystic fibrosis carrier screening. J Okla State Med Assoc. 2003;96: 482-4. PMID: 14619603.Nolen A.A., Rhoades E. D. Update on population-based preconception and prenatal cystic fibrosis carrier screening. J Okla State Med Assoc. 2003;96: 482-4. PMID: 14619603.IJzebrink A., van Dijk T., Franková V., et al. Informing Parents about Newborn Screening: A European Comparison Study.Int J Neonatal Screen. 2021 Feb 26;7(1):13. doi: 10.3390/ijns7010013.IJzebrink A., van Dijk T., Franková V., et al. Informing Parents about Newborn Screening: A European Comparison Study.Int J Neonatal Screen. 2021 Feb 26;7(1):13. doi: 10.3390/ijns7010013.Moorhead S.A., Hazlett D. E., Harrison L., et al. A new dimension of health care: systematic review of the uses, benefits, and limitations of social media for health communication. J Med Internet Res. 2013 Apr 23;15(4): e85. doi: 10.2196/jmir.1933.Moorhead S.A., Hazlett D. E., Harrison L., et al. A new dimension of health care: systematic review of the uses, benefits, and limitations of social media for health communication. J Med Internet Res. 2013 Apr 23;15(4): e85. doi: 10.2196/jmir.1933.Ioannou L., McClaren B., Massie J., et al. Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research. Genet Med. 2014; 16:207-216. doi: 10.1038/gim.2013.125.Ioannou L., McClaren B., Massie J., et al. Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research. Genet Med. 2014; 16:207-216. doi: 10.1038/gim.2013.125.Janssens S., Chokoshvilli D., Binst C., et al. Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues. Eur J Hum Genet.2016;24:506-512. doi: 10.1038/ejhg.2015.160.Janssens S., Chokoshvilli D., Binst C., et al. Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues. Eur J Hum Genet.2016;24:506-512. doi: 10.1038/ejhg.2015.160.Castellani C., Picci L., Tridello G., et al.; Veneto CF Lab Network. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med. 2016 Feb;18(2):145-51. doi: 10.1038/gim.2015.68.Castellani C., Picci L., Tridello G., et al.; Veneto CF Lab Network. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med. 2016 Feb;18(2):145-51. doi: 10.1038/gim.2015.68.Langfelder-Schwind E., Kloza E., Sugarman E., et al. Cystic fibrosis prenatal screening in genetic counselling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2005;14:1-15. doi: 10.1007/s10897-005-1496-5.Langfelder-Schwind E., Kloza E., Sugarman E., et al. Cystic fibrosis prenatal screening in genetic counselling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2005;14:1-15. doi: 10.1007/s10897-005-1496-5.Clausen H., Brandt N. J., Schwartz M., Skovby F. Psychosocial aspects in carrier screening for recessive disorders. Nordisk Psykologi. 1995;47(2):81-103. doi: 10.1080/00291463.1995.11863851.Clausen H., Brandt N. J., Schwartz M., Skovby F. Psychosocial aspects in carrier screening for recessive disorders. Nordisk Psykologi. 1995;47(2):81-103. doi: 10.1080/00291463.1995.11863851.Mennie M. E., Compton M. E., Gilfillan A., et al. Prenatal screening for cystic fibrosis: attitudes and responses of participants. Clin Genet. 1993;44:102-6. doi: 10.1111/j.1399-0004.1993.tb03856.x.Mennie M. E., Compton M. E., Gilfillan A., et al. Prenatal screening for cystic fibrosis: attitudes and responses of participants. Clin Genet. 1993;44:102-6. doi: 10.1111/j.1399-0004.1993.tb03856.x.Mennie M.E., Gilfillan A., Compton M., et al. Prenatal screening for cystic fibrosis. Lancet. 1992 Jul 25;340(8813):214-6. doi: 10.1016/0140-6736(92)90476-j.Mennie M.E., Gilfillan A., Compton M., et al. Prenatal screening for cystic fibrosis. Lancet. 1992 Jul 25;340(8813):214-6. doi: 10.1016/0140-6736(92)90476-j.Grody W.W., Dunkel-Schetter C., Tatsugawa Z. H., et al. PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population. Am J Hum Genet. 1997;60:935-47. PMID: 9106541.Grody W.W., Dunkel-Schetter C., Tatsugawa Z. H., et al. PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population. Am J Hum Genet. 1997;60:935-47. PMID: 9106541.Evers-Kiebooms G., Denayer L., Welkenhuysen M., et al. A stigmatizing effect of the carrier status for cystic fibrosis? Clin Genet. 1994;46: 336-43. doi: 10.1111/j.1399-0004.1994.tb04174.x.Evers-Kiebooms G., Denayer L., Welkenhuysen M., et al. A stigmatizing effect of the carrier status for cystic fibrosis? Clin Genet. 1994;46: 336-43. doi: 10.1111/j.1399-0004.1994.tb04174.x.Fanos J. H., Johnson J. P. Perception of carrier status by cystic fibrosis siblings. Am J Hum Genet. 1995;57:431-8. PMID: 7668270.Fanos J. H., Johnson J. P. Perception of carrier status by cystic fibrosis siblings. Am J Hum Genet. 1995;57:431-8. PMID: 7668270.Williams J. K., Schutte D. L. Benefits and burdens of genetic carrier identification. West J Nurs Res. 1997;19:71-81. doi: 10.1177/019394599701900105.Williams J. K., Schutte D. L. Benefits and burdens of genetic carrier identification. West J Nurs Res. 1997;19:71-81. doi: 10.1177/019394599701900105.Hussein N., Henneman L., Kai J., Qureshi N. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Cochrane Database Syst Rev. 2021 Oct 11;10(10): CD010849. doi: 10.1002/14651858.CD010849.pub4.Hussein N., Henneman L., Kai J., Qureshi N. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Cochrane Database Syst Rev. 2021 Oct 11;10(10): CD010849. doi: 10.1002/14651858.CD010849.pub4.

The authors declare that there are no conflicts of interest present.