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• W2149669204 abstract "In 2001, the American College of Obstetricians and Gynecologists recommended screening for cystic fibrosis mutations in all Caucasian couples who were planning pregnancy or seeking prenatal care. Since 2001 we have offered cystic fibrosis screening to all Caucasian infertility patients. Only 2% of our patients have elected to have mutation screening for cystic fibrosis. In 2001, the American College of Obstetricians and Gynecologists recommended screening for cystic fibrosis mutations in all Caucasian couples who were planning pregnancy or seeking prenatal care. Since 2001 we have offered cystic fibrosis screening to all Caucasian infertility patients. Only 2% of our patients have elected to have mutation screening for cystic fibrosis. With an incidence of 1 in 2500 to 3500 live births, cystic fibrosis (CF) is the most common life-shortening autosomal recessive disease among populations of Northern European descent (1Implementing prenatal screening for cystic fibrosis in routine obstetric practice.Am J Obstet Gynecol. 2005; 192: 527-534Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar). The genetic cause of CF is a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which results in thick mucous secretions in many systems of the body. Thus far, more than 1200 mutations in the CFTR gene have been identified, although a single mutation, ΔF508, accounts for approximately 70% of the mutations in European white patients (2Palomaki G.E. Haddow J.E. Bradley L.A. FitzSimmons S.C. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians.Genet Med. 2002; 4: 90-94Crossref PubMed Scopus (33) Google Scholar). Although CF has a variable presentation, the majority of those affected with CF suffer from pulmonary disease, gastrointestinal and nutritional abnormalities, and male infertility. With advances made in treating the disease, the median age of survival is approximately 37 years of age (3Gregg A.R. Simpson J.L. Genetic screening for cystic fibrosis.Obstet Gynecol Clin North Am. 2002; 29: 329-340Abstract Full Text Full Text PDF PubMed Scopus (20) Google Scholar, 4Cystic Fibrosis Foundation. Patient Registry: Annual Data Report 2004. Available at: http://www.cff.org/ID=4573/TYPE=2676/2004%20Patient%20Registry%20Report.pdfGoogle Scholar).The estimated lifetime direct cost of treatment for CF was over $1 million in 2001 (5Prenatal cystic fibrosis screening in Mexican Americans: an economic analysis.Am J Obstet Gynecol. 2003; 189: 769-774Abstract Full Text Full Text PDF PubMed Scopus (15) Google Scholar). Because of the high morbidity and mortality common among those affected with CF, the National Institutes of Health issued a consensus statement in April 1997 recommending that CF carrier screening be offered to adults with a family history of CF, partners of individuals with CF, couples planning a pregnancy, and couples seeking prenatal testing (1Implementing prenatal screening for cystic fibrosis in routine obstetric practice.Am J Obstet Gynecol. 2005; 192: 527-534Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar). Later, in October 2001 the American College of Obstetricians and Gynecologists (ACOG), in support of recommendations from the American College of Medical Genetics, advised that CF screening be offered to individuals with a family history of CF, reproductive partners of individuals with CF, or couples in whom one or both partners were Ashkenazi Jewish or white and were planning a pregnancy or seeking prenatal care, and that the test be made available to all patients as desired (1Implementing prenatal screening for cystic fibrosis in routine obstetric practice.Am J Obstet Gynecol. 2005; 192: 527-534Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar).From October 2001 to October 2006, a total of 1028 couples were evaluated for primary or secondary infertility in our program: 1006 couples were Caucasian, 3 Native American, 7 Asian Indian, 2 African American, 2 Japanese, 2 Egyptian, and 6 Hispanic. The couples all denied having a first-degree or second-degree relative with CF.Following the initial consultation, the patients were offered formal genetic counseling with a genetic counselor. During this nondirective counseling session, a genetic counselor reviewed the patient's risk of being a CF carrier based on population statistics and family history. The couples were also informed of the residual risk if the mutation testing came back negative for mutations. The counselor would then discuss the screening process and the options of sequential or simultaneous screening for the couple.Twenty-two (2%) of the Caucasian couples had sequential screening for CFTR gene mutations. All of the non-Caucasian patients were made aware of the availability of CFTR gene mutation screening, and none of these couples desired screening.Of the 22 couples sequentially screened, four began by testing the male and 18 by testing the female partner. The four couples where the male was screened had a history of male factor infertility and wanted to screen before deciding on a method of infertility treatment. In the couples where the female was screened, there was a wide variety of diagnoses including male factor infertility. Only one couple out of the 22, had a positive screen for a mutation in the CFTR gene. This couple had male factor infertility, and the male was discovered to be a heterozygote for the R117C mutation. His condition was ultimately diagnosed by cytogenetics as Klinefelter syndrome.The broad purpose of a screening test is to determine which individuals in a population have a condition but are unaware that they have it. For preconception genetic screening, this means detecting individuals who are carriers of mutant alleles that could increase their risk of having a child with a serious genetic illness. For a screening test to be effective, it must be implemented by the population of interest. There are a number of reasons why a screening test may be underused, including cost, lack of benefit from early detection of the condition, high false-positive and false-negative rates, low predictive value, or harmful or painful administration.In preconception CF screening programs, the purpose is to determine which parents are heterozygous for the most common mutations in the CFTR gene and at higher risk of having a child with this disease. This screening method does not completely eliminate the over 1200 described mutations in the CFTR gene, but only those of highest frequency in the patient's population (Table 1). Hence, a patient with a negative screen still has a residual risk of carrying a less frequent or unknown mutation.Table 1Cystic fibrosis mutations tested in genzyme panel.DF3112105del13ins5R553XN1303KDF5082108delAR560TP574HDI5072143delTR75XQ1238X394delTT2183delAA>GR764XQ359K/T360K406-1G>A2184delAS1196XQ552X405 + 1G>A2184insAS1251NQ493X405 + 3A>C2307insAS1255XQ890X444delA2789 + 5G>AS549RR1066C457TAT>G2869insGS364PR1158X574delA3120G>AS549NR1162X621 + 1G>T3120 + 1G>AA559TR117C663delT3171delCC524XR117H712-1G>T3199del6CFTR dele2,3 (21kb)R334W711 + 1G>T3659delCD1152HR347H711 + 5G>A3667del4E60XR352Q1078delT3791delCE92XT338I1288insTA3849 + 10kbC>TG178RV520F1677delTA3876delAG330XW1089X1717-1G>A3905insTG480CW1204X1812-1G>A4016insTG542XW1282X1898 + 1G>A935delAG551DY1092X1898 + 5G>T936delTAG85EY122X1949del84A455EK710X2043delGR347PL206W2055del9>AR709XM1101K Open table in a new tab The couple seeking treatment for infertility offers a unique opportunity to discuss preconception CF screening. When both partners are heterozygous for CF, they can be counseled about donor sperm, donor eggs, donor embryos, preimplantation diagnosis, or prenatal diagnosis. Nonetheless, when screening for CF was made optional in this study, only 2% of patients elected to proceed. The majority of patients who refused to participate noted that the cost of the test ($260) was a major impediment to them. In our opinion, improvements in governmental and insurance reimbursement for genetic services, including screening tests, will result in a significant increase in use of these tests. With an incidence of 1 in 2500 to 3500 live births, cystic fibrosis (CF) is the most common life-shortening autosomal recessive disease among populations of Northern European descent (1Implementing prenatal screening for cystic fibrosis in routine obstetric practice.Am J Obstet Gynecol. 2005; 192: 527-534Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar). The genetic cause of CF is a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which results in thick mucous secretions in many systems of the body. Thus far, more than 1200 mutations in the CFTR gene have been identified, although a single mutation, ΔF508, accounts for approximately 70% of the mutations in European white patients (2Palomaki G.E. Haddow J.E. Bradley L.A. FitzSimmons S.C. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians.Genet Med. 2002; 4: 90-94Crossref PubMed Scopus (33) Google Scholar). Although CF has a variable presentation, the majority of those affected with CF suffer from pulmonary disease, gastrointestinal and nutritional abnormalities, and male infertility. With advances made in treating the disease, the median age of survival is approximately 37 years of age (3Gregg A.R. Simpson J.L. Genetic screening for cystic fibrosis.Obstet Gynecol Clin North Am. 2002; 29: 329-340Abstract Full Text Full Text PDF PubMed Scopus (20) Google Scholar, 4Cystic Fibrosis Foundation. Patient Registry: Annual Data Report 2004. Available at: http://www.cff.org/ID=4573/TYPE=2676/2004%20Patient%20Registry%20Report.pdfGoogle Scholar). The estimated lifetime direct cost of treatment for CF was over $1 million in 2001 (5Prenatal cystic fibrosis screening in Mexican Americans: an economic analysis.Am J Obstet Gynecol. 2003; 189: 769-774Abstract Full Text Full Text PDF PubMed Scopus (15) Google Scholar). Because of the high morbidity and mortality common among those affected with CF, the National Institutes of Health issued a consensus statement in April 1997 recommending that CF carrier screening be offered to adults with a family history of CF, partners of individuals with CF, couples planning a pregnancy, and couples seeking prenatal testing (1Implementing prenatal screening for cystic fibrosis in routine obstetric practice.Am J Obstet Gynecol. 2005; 192: 527-534Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar). Later, in October 2001 the American College of Obstetricians and Gynecologists (ACOG), in support of recommendations from the American College of Medical Genetics, advised that CF screening be offered to individuals with a family history of CF, reproductive partners of individuals with CF, or couples in whom one or both partners were Ashkenazi Jewish or white and were planning a pregnancy or seeking prenatal care, and that the test be made available to all patients as desired (1Implementing prenatal screening for cystic fibrosis in routine obstetric practice.Am J Obstet Gynecol. 2005; 192: 527-534Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar). From October 2001 to October 2006, a total of 1028 couples were evaluated for primary or secondary infertility in our program: 1006 couples were Caucasian, 3 Native American, 7 Asian Indian, 2 African American, 2 Japanese, 2 Egyptian, and 6 Hispanic. The couples all denied having a first-degree or second-degree relative with CF. Following the initial consultation, the patients were offered formal genetic counseling with a genetic counselor. During this nondirective counseling session, a genetic counselor reviewed the patient's risk of being a CF carrier based on population statistics and family history. The couples were also informed of the residual risk if the mutation testing came back negative for mutations. The counselor would then discuss the screening process and the options of sequential or simultaneous screening for the couple. Twenty-two (2%) of the Caucasian couples had sequential screening for CFTR gene mutations. All of the non-Caucasian patients were made aware of the availability of CFTR gene mutation screening, and none of these couples desired screening. Of the 22 couples sequentially screened, four began by testing the male and 18 by testing the female partner. The four couples where the male was screened had a history of male factor infertility and wanted to screen before deciding on a method of infertility treatment. In the couples where the female was screened, there was a wide variety of diagnoses including male factor infertility. Only one couple out of the 22, had a positive screen for a mutation in the CFTR gene. This couple had male factor infertility, and the male was discovered to be a heterozygote for the R117C mutation. His condition was ultimately diagnosed by cytogenetics as Klinefelter syndrome. The broad purpose of a screening test is to determine which individuals in a population have a condition but are unaware that they have it. For preconception genetic screening, this means detecting individuals who are carriers of mutant alleles that could increase their risk of having a child with a serious genetic illness. For a screening test to be effective, it must be implemented by the population of interest. There are a number of reasons why a screening test may be underused, including cost, lack of benefit from early detection of the condition, high false-positive and false-negative rates, low predictive value, or harmful or painful administration. In preconception CF screening programs, the purpose is to determine which parents are heterozygous for the most common mutations in the CFTR gene and at higher risk of having a child with this disease. This screening method does not completely eliminate the over 1200 described mutations in the CFTR gene, but only those of highest frequency in the patient's population (Table 1). Hence, a patient with a negative screen still has a residual risk of carrying a less frequent or unknown mutation. The couple seeking treatment for infertility offers a unique opportunity to discuss preconception CF screening. When both partners are heterozygous for CF, they can be counseled about donor sperm, donor eggs, donor embryos, preimplantation diagnosis, or prenatal diagnosis. Nonetheless, when screening for CF was made optional in this study, only 2% of patients elected to proceed. The majority of patients who refused to participate noted that the cost of the test ($260) was a major impediment to them. In our opinion, improvements in governmental and insurance reimbursement for genetic services, including screening tests, will result in a significant increase in use of these tests." @default.
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• W2149669204 title "Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic" @default.
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