Journal of Genetic Counseling, VoL 5, No. L 1996

Counseling and Screening for Cystic Fibrosis in Patients with Congenital Bilateral Absence of the Vas Deferens: Patient Perceptions Jennifer L. Fitzpatrick, 1 Elaine M. Hutton, 1 Riyana Babul, a Cheryl S. Cytrynbaum, 1 Joanne E. Sutherland] and Cheryl T. Shuman 1,2

Congenital bilateral absence of the vas deferens (CBAVD) occurs in approximately 1.3% of infertile males and is thought to be, in most cases, a primarily genital form of cystic fibrosis (CF). Fourteen males with CBAVD considering microsurgical sperm aspiration from the epididymis (MESA) and in vitro fertilization were seen for genetic counseling and screening for CE To retrospectively evaluate these patients" perceptions of the counseling and screening information, we conducted structured telephone interviews to assess their recall of infolmation about CF and its impact on their health concerns and reproductive plans. We found that, as the health implications of CF are abstract and not as important to patients as the diagnosis of CBAVD itself patients tend to view their CF status primarily in terms of their reproductive potential Retrospective analysis afforded us an opportunity to identify the psychosociat issues of most concern to this unique patient population. KEY WORDS: cystic fibrosis; vas deferens; male infertility; genetic counseling; screening; attitudes.

INTRODUCTION

Congenital bilateral absence of the vas deferens (CBAVD) occurs in approximately 1.3% of the infertile male population (Jequier et al., 1985). 1Division of Clinical Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada. 2Correspondence should be directed to Cheryl T. Shuman, Division of Clinical Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

1059-7700/96/0300-0001509.50/1 © 1996NationalSocietyof Genetic Counselors, Inc.

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The vas deferens are tube-like structures which function to carry sperm cells from the epididymis to the ejaculatory duct. Between 8 and 12 weeks of normal fetal development, in response to the presence of testosterone, the more proximal portion of the mesonephric (Wolffian) duct differentiates into the epididymis and the more distal portion differentiates into the vas deferens (Larsen, 1993). Bilateral abnormalities in this developmental process can cause primary infertility due to obstructive azoospermia (Oates and Amos, 1993). It has long been known that almost all males with cystic fibrosis are infertile (Denning et aL, 1968); over 95% have altered Wolffian duct structures (Boat et al., 1989) and up to 50% of the sperm they produce are dysmorphic (qteNse et al., 1993). In the past several years, however, up to 82% of males with isolated CBAVD have been found to have an identifiable mutation in the cystic fibrosis transmembrane conductance regulator (CFrR) gene on one or both chromosomes (Anguiano et al., 1992; Oates and Amos, 1993, 1994). Although genetic heterogeneity has recently been demonstrated in CBAVD (Mercier et al., 1995; Rave-Harel et al., 1995), the majority of isolated cases of CBAVD are thought to represent a primarily genital form of cystic fibrosis (Oates and Amos, 1993). At the time this study was conducted, patients with isolated CBAVD who screened negatively for mutations in the CFI~R gene were suspected to have CFFR mutations yet to be defined (Anguiano et al., 1992). In 1985, Temple-Smith et al. reported on the successful use of microsurgical epididymal sperm aspiration (MESA) with in vitro fertilization and embryo transfer to achieve an ongoing pregnancy in the partner of a male with obstructive azoospermia secondary to a previous vasectomy. Other studies (Silber et al., 1987, 1988, 1990; Tournaye et al., 1994) subsequently confirmed that epididymal sperm can fertilize the human oocyte in vitro and result in pregnancy and live birth. Refinements of these methods are becoming increasingly successful and are now achieving ongoing pregnancy rates of over 20% per procedure (Tournaye et aL, t994). Such developments have provided hope for couples experiencing this previously almost untreatable form of infertility and many affected males are availing themselves of the technique. This new reproductive potential of males with CBAVD, coupled with the recognition that CBAVD and CF may be a genetic commonality, has led to an evolved standard of practice in urology. Members of the European Community Concerted Action for Cystic Fibrosis have recommended that all patients with CBAVD be counseled about the specific genetic risks involved in the application of assisted reproductive technologies to their condition (Meschede et al., 1994). In Europe and North America, men discovered to have CBAVD are now commonly referred for genetic counseling and screening for CE

Counseling for CF in Males with Congenital Bilateral Absence of the Vas Deferens

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In genetic counseling, direct questioning of a well-defined group of patients sheds light on issues particularly pertinent to that population and illuminates helpful and not so helpful counseling strategies. We undertook a retrospective analysis of the impact of the process of genetic counseling and screening for CF in a small population of males with CBAVD. Specifically, we sought to determine how much, if any, information about CF was retained and how it was used; whether it generated anxiety; whether it was shared with family members; whether it affected reproductive plans; and whether it was perceived as an overall benefit or burden. The interplay of psychosocial issues related to the combined diagnoses of infertility, CBAVD and CF in a male-only population poses a special challenge to genetic counselors. Our aim was to determine what, if any, counseling issues are most relevant to men with CBAVD in hopes that we might tailor our counseling more effectively to this patient population in the future.

METHODS Sample Twenty males with bilateral absence of the vas deferens were referred by their urologist to our clinic for genetic counseling and screening for CE Patients were all aware of the reason for referral. Family histories were negative for CF in all but one patient, who had an affected brother. One other patient had a brother with CBAVD. None of the patients had been formally diagnosed to have CF at the time of referral, although the patient with the affected brother presented with a history of chronic pulmonary infections and cough; he was counseled regarding the likely diagnosis of a mild form of CF and was subsequently referred for assessment and ongoing care to the adult CF clinic in our city. Patients were seen for genetic counseling, with or without their partners, between the spring of 1992 and the summer of 1994. One patient, who had difficulty coming to the clinic during regular business hours, was given in-depth counseling over the telephone. Information was provided about the broad clinical spectrum of cystic fibrosis and patients were counseled about the association between CFTR gene mutations and CBAVD. CFTR mutation analysis for the patients and their partners was offered. In our laboratory, patients are screened for 11 of the more common mutations in the northern European population and in patients with CBAVD: AF508, G551D, G542X, 6 2 1 + l G - > q ; N1303K, Rl17H, R553X, R560T, $549N/I, and W1282X. The patients' partners are screened for ten mutations (all of the above except Rll7H). At the time of this study, the mo-

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lecular laboratory was only using the R117H probe to screen patients with CBAVD. Patients were counseled regarding the residual carrier risk in the event of negative screening results and that presently genotype/phenotype correlations are not definitive. All patients, and 14 of their partners, elected to pursue mutation analysis. Results were communicated susbsequently to patients by telephone; none requested to be seen personally for follow-up counseling. At this time patients were told that they might consider mentioning to their siblings, if appropriate, that counseling for CF, with or without screening, would be available to them. Finally, a letter summarizing counseling information and test results was sent to each patient. Procedure

In the summer of 1994, patients were recontacted and asked if they would be willing to respond to a questionnaire, to be administered over the telephone, for research purposes. Of the 20 patients originally referred, 14 could be reached. All 14 consented to participate. The interview consisted of 18 questions, divided into six sections: demographic data (three questions); knowledge of CF (four questions); concerns about personal health (two questions); reproductive plans (three questions); information shared with family members (two questions); and general impressions of the counseling and screening process (four questions). As the sample size was small and the study was retrospective, no attempt was made to quantify data or to evaluate statistical significance for any one particular question. Standard screening tools to measure levels of concern or anxiety were not used. Subjects were asked instead to comment on general feelings and impressions generated from the counseling and screening process. Multiple choice questions designed to elicit concrete answers were combined with open-ended questions designed to elicit responses in the subjects' own words, the latter to minimize interviewer bias. One-word answers were classified subsequently and grouped into general categories for analysis.

RESULTS Sociodemographic characteristics and screening results are shown in Tables I and II. Our patients, all of whom upon referral were considering pursuing MESA and IVF in order to achieve a pregnancy, likely represent a select population. The mean age of respondents was 38.1 years; the majority were married. All were gainfully employed at the time of the study. There were six patients in whom one mutant allele was identified and one

Counseling for CF in Males with Congenital Bilateral Absence of the Vas Deferens

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Table I. Demographic Data

Age Range Mean

28-46 38.1

Marital status Married Single Divorced

12 1 1

Education (highest level completed) Some high school 3 High school diploma 3 Junior college diploma 3 University degree 4 Postgraduate degree 1

Table II. Screening Results Ethnicity

No. of patients

Ashkenazi Jewish

2

Chinese

1

English/Scottish/" Canadian"

6

East Indian/Trinidadian

1

Italian

3

Iranian

i

Total

14

Genotype

No. of patients

AF508/+ R117H/+ G551D/R117H

4 1 1

W1282X/+

1

7 (50%)

patient was found to be a compound heterozygote; mutations thus were identified on 8 out of 28 chromosomes. The patient clinically suspected to have a mild form of CF was identified to have a CF mutation on only one chromosome, although he did have a positive sweat chloride test. No mutations were identified in any of the partners tested (n = 10, out of 12 partners in total). Our finding that 50% of patients had an identifiable mutation is lower than the documented frequency of detectable mutations of up to 82% (Oates and Amos, 1994). This may be due to the fact that only 6/14 patients (43%) were of Northern European background.

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Subjects' retention of general knowledge about CF is summarized in Table III. Only approximately half of the respondents correctly answered multiple choice questions assessing factual knowledge of CF, and the number of correct responses did not differ between screen positive and screen negative groups. Thirteen of 14 (93%) correctly recalled their own screening results; however, an open-ended question regarding their status with respect to CF elicited a variety of answers which in many instances revealed incorrect interpretations. Table IV summarizes subjects' general levels of concern about their health with respect to CF before genetic counseling, after counseling but before receiving test results, and after receiving test results. On a scale of 1 to 5, with 1 being not concerned and 5 being very concerned, we found Table Ill, Knowledge of CF No. answering correctly Screen pos. (n = 7)

Screen neg. (n = 7)

Multiple choice questions What is CF?

3

3

6 (43%)

What is a CF carrier?

4

4

8 (57%)

What were your screening test results?

6

7

13 (93%)

Total

Open-ended question What is your understanding of your status regarding CF? No. Mutations identified

No. Patients

0

7

"On this test no mutation found" (2) "Most likely don't have" "Negative and may have children "a "Still possible I'm a CF carrier or affected" "Not a carrier "a "Can't conclude one way or the other"

1

6

"I was born with it" "I'm a carrier "a (3) "One mutation was found and they're still looking for the other one but I'm affected" "I'm a carrier but it won't affect me; my children could be carriers "~

2

1

"Don't know ''a

Responses

aResponses indicating incorrect interpretations.

Counseling for CF in Males with Congenital Bilateral Absence of the Vas Deferens Table IV. Concerns About Personal Health Before counseling

After counseling

After test results

How concerned were you about the association between absence of the vas deferens and CF? 1 (not at all concerned) 9 7 11 2 i 1 1 3 1 2 1 4 2 3 0 5 (very concerned) 1 1 1 Mean 1.9 2.3 1.5 In one word, what was your primary emotional response towards CF mutation testing? Concerned/worried 8 2 Indifferent 4 3 Not concerned/worried 1 2 Informed/understanding 2 Interested 1 i Relieved 4 Did you wonder whether you might be at risk for other medical problems (i.e., other than CBAVD)? Yes 5 3 2 No 9 11 12 Did you try to obtain more medical information about CF? Yes 1 1 No 13 13

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that the mean level of concern before counseling was 1.9; the mean level after counseling was 2.3; and the mean level after results were received was 1.5. In addition, when patients described in one word their primary emotional response towards CF mutation testing, there was an obvious trend from "concerned/worried" after counseling to "relieved" after receiving test results. Finally, the number of subjects who wondered whether they might be at risk for other medical problems (i.e., CF related) decreased from five after counseling to two after receiving test results. The effect of counseling and screening for CF on patients' reproductive plans is summarized in Table V Before counseling, all but one subject intended to pursue MESA and IVF as their first choice in assisted reproductive technology. After test results were received, only one of this group changed his first choice to artificial insemination with donor sperm. (This patient was the one who had learned that he was clinically affected with CE He told us that he changed his mind because, even though his partner was screen negative, he felt he did not want to pass the gene on.) When

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Fitzpatrick et al. Table V. Impact on Reproductive Plans Assuming cost were not an issue, which of the following did you most want to pursue to have children?

MESA/IVF AID Adoption Other

Before counseling

After counseling

After test results

13 1 0 0

13 1 0 0

12 2 0 0

If both you and your partner were identified as CF carriers, would you wap.t to have prenatal testing for CF in a future pregnancy: Yes 9 No 0 Don't know 5 If prenatal testing showed the fetus to be affected with CF, what would you want to do? End the pregnancy 0 Continue the pregnancy 6 Put the child up for adoption 1 Don't know 7

Table VI. Information Shared with Family Members Have you told any family members about the availability of carrier testing for CF? Yes 7 "I told everybody! It's a family issue." "But I'm not sure they believe me. They don't understand." No

7 "It's my own problem. We don't relate that way." "I don't have enough information. It hasn't crystallized." "It's private. I don't want them to know about the CBAVD." (2) "I'm adopted, but I would if I could." "My family's out of the country. I wouldn't want to alarm them."

If you have brothers, have you discussed the possibility with them that they could have absence of the vas deferens too? N/A 3 Yes 1 "In a roundabout way; he had a twisted testicle." No 9 "I just haven't seen him yet." "They are young." "I'm not comfortable; I assumed it did not pertain to him." "He knows I have a decreased sperm count." "They have children." (4) "One has children, one's just married and one's single--but I wouldn't want them to know about the CBAVD."

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subjects were asked whether, if their partners were identified as CF carriers, they would want to pursue prenatal diagnosis in a future pregnancy, nine (64%) said yes; the remainder did not know. Interestingly, however, when asked what they would want to do if the fetus were found to be affected, none replied that they would want to terminate the pregnancy, although seven (50%) were undecided. Do CBAVD patients inform their family members about their risks and the availability of CF carrier screening? As shown in Table VI, half of the respondents informed family members about the availability of carrier screening for CE Most respondents who had brothers did not tell them about the possibility that they too could have CBAVD. A variety of reasons for this decision were provided, including the fact that the brothers already have children. Notably, however, two individuals specifically cited privacy issues as reasons not to share the information. Finally, Table VII presents patient responses to questions about the process of counseling and screening for CF in general. Regarding their feelings about their status with respect to CBAVD and CF, 7 out of 14 respondents indicated that something had changed. The majority of their answers reflected positive sentiments, mainly that their feelings about their situation improved with greater awareness of the genetic information. Those who screened either positive or negative uniformly (13/14) approved of genetic counseling and screening for CF; only one would have preferred to receive the information from a brochure or pamphlet instead of through a personal interview. In addition, however, two individuals volunteered that receiving written information at the time of counseling would have been helpful as well.

DISCUSSION A recent study on population based screening for CF (Bekker et al., 1994) found that at least 17% of 427 patients receiving a negative test result incorrectly believed that they were at no risk for having a child with CE In our selected group of patients, it was notable that correct interpretation of the screening results was also low (Table III). The fact that 13 of 14 of our patients correctly recalled their own screening results, however, helps us to understand the issues of most import to men with CBAVD and thus interpret this finding. Our results indicate that the paramount concern in this generally healthy group of patients was that of their reproductive potential. This concern strongly influenced their perceptions of and responses to the process of genetic counseling and screening for CF.

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Fitzpatrick et al. Table VII. General Impressions

Has anything in the process of genetic counseling and/or testing changed how you feel about yourself and your situation? Yes 7 "Appreciate the situation better." (2) "Clarified the situation." "Hopeful." "Makes a big difference in decision re MESA." "More aware of how to stay healthy; more conscious of health, exercise, etc. The education and learning part good--a positive thing. Knowledge is better than not knowing." "I was born that way and some things can't be changed. It's in God's hands. I just accept it." "Ripped off." No

7

Knowing what you do now, would you still go for genetic counseling and screening for CF? Yes 14 "Can maybe be good for the next generation." "A good learning experience." "Found it helpful." No

0

Would you have preferred to receive the genetic counseling information through a brochure instead of in person? Yes 1 No

13 "Prefer personal approach." "In person much better." "Would like you to keep your jobs; nice to have a person to answer questions." "But would have preferred a brochure also." "Both would have helped; something to read in case I didn't understand." "The personal approach is very important--knowing that the professionals are there to call."

Any suggestions? "Too long to wait for results!" "Should explain slower. Take care when delivering information." "It was great--learned a lot." "No. Very satisfied."

O u r patients did n o t express high levels of c o n c e r n a b o u t the p e r s o n a l h e a l t h implications of CF; in fact, anxiety levels h a d fallen by the c o m p l e tion of the c o u n s e l i n g a n d screening process. F u r t h e r studies w o u l d be req u i r e d to elucidate the specific reasons for this drop, b u t o u r results suggest that p a t i e n t s were reassured by their screening results. First, w h e n m u t a tions in the C F T R gene were n o t identified, some patients falsely c o n c l u d e d

Counseling for CF in Males with Congenital Bilateral Absence of the Vas Deferens

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that they are unaffected or are not carriers of CF after all. Second, as upon referral all but one were considering pursuing MESA and IVF in order to have children, concerns about their potential for having healthy children hinged upon the identification of mutations in the CFTR gene. Relief that they would not be presented with additional "roadblocks" in having children seemed to carry more weight for these men than their prognoses as related to CE The lesser influence of our patients' concerns about the personal health implications of CF compared to those of their reproductive potential was evidenced also by their views towards prenatal diagnosis: while 64% would pursue prenatal diagnosis, none would want to terminate a pregnancy if a fetus were affected. Reproductive decisions are known to be influenced by the perceived burden of the genetic condition in question. Watson et aL (1992) found that among 170 parents of CF children who responded to a written questionnaire, 74% would choose to have a prenatal test if they became pregnant and 44% would consider terminating an affected pregnancy. Similarly, Denayer et al. (1992) surveyed 109 aunts and uncles of affected children and found that 73% would use prenatal diagnosis and 43% would terminate an affected pregnancy. In both studies subjects had experience of a child with CF in their family--a more clinically severe form of CF than that described in patients with isolated CBAVD. Our patients may not consider CF a serious enough condition for which to terminate a pregnancy. In addition, although the question posed to our subjects was hypothetical, none of them could imagine terminating such a difficult to achieve pregnancy. Sandelowski et al. (1991) found that infertile couples faced with the option of amniocentesis after finally conceiving displayed a keener sense of the value of the pregnancy and of the baby than did their fertile counterparts. The views of these infertile couples toward prenatal diagnosis are thus likely to be influenced by the preciousness of the pregnancy. The psychosocial implications of infertility also appeared to influence the extent to which our patients shared the counseling information with family members. Although it is possible that incorrect interpretations of their screening results meant that they were unaware of the genetic implications to family members, responses to open-ended questions indicate that a principle reason for not sharing the information was their need for privacy. Normal feelings of guilt, stigma, and loss of self-esteem that often accompany a genetic diagnosis may be compounded when infertility is added to the clinical situation. In addition, although a man's response to infertility will closely approximate a woman's if the infertility has been attributed to a male factor (Nachtigall et al., 1992), differences in the way men and women are socialized to communicate may make discussion of

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Fitzpatrick et al.

the attendant issues difficult. In Bresnick and Taymor's (1979) study on the effects of counseling on ameliorating the psychological distress of infertility, while women had the greatest difficulty in resolving their feelings of failure, men cited communication as their greatest challenge. Feelings of stigmatization and differences in communication patterns thus may preclude open discussion by patients of their situation and of genetic risk to other family members. Parenting is viewed by most couples as a central life role, and the loss and grief associated with inability to conceive a child can be a tremendous psychological burden. In addition, medical tests and treatments for infertile patients can be highly stressful. Nevertheless, our patients' overall impressions of their counseling and screening experiences were favorable; many said that their feelings about their situation improved with greater awareness of the genetic information. Hertz (1982) suggests that the infertile patient's need for more information and knowledge reveals not only concern and curiosity but a desire to be more than a passive observer in the diagnostic process, and that patient participation can help restore self-esteem. Abbey et al. (1992) suggest that attempts by health care providers to increase patients' sense of control may reduce the stress associated with infertility. Genetic counseling for CF in men with CBAVD is ideally suited to encourage patient participation and restore self-esteem in this regard; it provides the infertile patient with an opportunity to discuss his concerns with a caring health professional and to become more empowered through the receipt of information. Genetic counselors usually try to avoid increasing patient anxiety unnecessarily by providing too much information at one session. However, this proved to be difficult with this patient population as they did not present with a clear understanding of the indication for CF screening. We have found that genetic counseling for the association of CF with CBAVD is complex and, to most patients, the information presented is unexpected and thus may be difficult to absorb. It is also abstract, as most patients have no personal experience with the more severe clinical manifestations of CE Finally, given the limitations of laboratory technology in detecting all mutations, negative screening results can be confusing and, as also reported by Bekker et al. (1994), provide false reasurrance to patients. Mennie et al. (1992) studied the attitudes of 145 patients toward an information leaflet on prenatal cystic fibrosis carrier testing and found that of the 15% of respondents who felt that the leaflet should provide more information, all requested more details about the disease itself. Similarly, in Livingstone et al.'s (1993) survey of 312 individuals' opinions on an information brochure describing carrier screening for cystic fibrosis, more than 90% found the leaflet easy to understand but 10% wanted more information about

Counseling for CF in Males with Congenital Bilateral Absence of the Vas Deferens

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CE Our findings support those in the literature that patients referred for screening for CF may benefit from more disease-specific information. With respect to the establishment of protocols for the screening of men with CBAVD, consideration should be given to the efficacy of testing, fiscal limitations due to the decrease in availability of health care dollars, as well as patient demand for testing. Perhaps ongoing research studies evaluating genotype-phenotype correlations will elucidate whether there is a need for further medical management in this patient population. In summary, we have learned of several ways in which genetic counseling for CBAVD might be improved. First, counselors must maintain a heightened awareness of the impact of infertility on their patients' lives and, naturally, deliver their counseling in an appropriately sensitive manner. Second, ways should be devised to present information about CF more effectively. More time should be spent explaining the genetic implications of negative screening results. Regarding the personal health implications of CF, patients should be made aware that to date no studies have addressed the potential for increased risk of respiratory or other complications later in life. Counselors may consider suggesting that patients not smoke and that any symptoms be evaluated promptly. Finally, as CBAVD patients often find it difficult to discuss their situation, counselors might consider engaging their patients in a dialogue of possible ways to broach the subject of increased genetic risk with family members. In all of the above endeavors, information brochures specifically prepared for this counseling situation would be helpful.

ACKNOWLEDGMENTS The authors wish to thank the subjects for their enthusiastic participation in the study. They also are grateful to Madene Huggins, MSc for her critical reading of the manuscript.

REFERENCES Abbey A, Halman LJ, Andrews FM (1992) Psychosocial, treatment, and demographic predictors of the stress associated with infertility. Fertil Steril 57:122-128. Anguiano A, Oates RD, Amose JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A (1992) Congenital bilateral absence of the vas deferens: A primarily genital form of cystic fibrosis. JAMA 267:1794-1797. Bekker H, Denniss G, Modell M, Bobrow M, Marteau T (1994) The impact of population based screening for carriers of cystic fibrosis. J Med Genet 31:364-368.

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Boat TF, Welsh MJ, Beaudet AL (1989) Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, VaUe D (eds) The Metabolic Basis of Inherited Disease (6th Ed). New York: McGraw-Hill, pp 2649-2680. Bresnick E, Taymor ML (1979) The role of counseling in infertility. Fertil Steril 32:154-156. Denayer L, Evers-Kiebooms G, De Boeck K, Van den Berghe H (1992) Reproductive decision making of aunts and uncles of a child with cystic fibrosis: Genetic risk perception and attitudes toward carrier identification and prenatal diagnosis. A m J Med Genet 44:104-111. Denning CR, Sommers SC, Quigley HJ (1968) Infertility in male patients with cystic fibrosis. Pediatn'cs 41:7-17.

Hertz DG (1982) Infertility and the physician-patient relationship: A biopsychosocial challenge. Gen. Hosp. Psychiatr 4:95-101. Jequier AM, Ansell ID, Bullimore NJ (1985) Congenital absence of the vasa deferentia presenting with infertility. JAndrol 6:15-t9. Larsen, WJ (1993) Human Embryology. New York: Churchill Livingstone. Livingstone J, Axton RA, Mennie M, Gilfillan A, Brock DJH (1993) A preliminary trial of couple screening for cystic fibrosis: Designing an appropriate information leaflet. Clin Genet 43:57-62. Mennie ME, Liston WA, Brock DJH (1992) Prenatal cystic fibrosis carrier testing: Designing an information leaflet to meet the specific needs of the target population. J Med Genet 29:308-312. Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, BondueUe M, Audr6zet MP, F6rec C (1995) Is congenital bilateral absence of the vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. A m J Hum Genet 56:272-277. Meschede D, Horst J, Williams C, Williamson R (1994) Genetic testing and counselling for congenital bilateral absence of the vas deferens (Letter). Lancet 343:1566-1567. Nachtigall RD, Beeker G, Wozny M (1992) The effects of gender-specific diagnosis on men's and women's response to infertility. Fertit Steril 57:113-121. Oates RD, Amos JA (1993) Congenital bilateral absence of the vas deferens and cystic fibrosis: A genetic commonality. World J Urol 11:82-88. Oates RD, Amos JA (1994) The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 15:1-8. Rave-Harel N, Madgar I, Goshen R, Nissim-Rafinia M, Ziadni A, Rahat A, Chiba O, Kalman YM, Brautbar C, Levinson D, Augarten A, Kerem E, Kerem B (1995) CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens, A m J Hum Genet 56:1359-1366. Sandelowski M, Harris BG, Holditch-Davis D (1991) Amniocentesis in the context of infertility. Health Care Women lnt 12:167-178. Silber SJ, Ord T, Borrero C, Balmaceda J, Asch R (1987) New treatment for infertility due to congenital absence of the vas deferens (Letter). Lancet 2:850-851. Silber SJ, Balmaceda J, Borrero C, Ord T, Asch R (1988) Pregnancy with sperm aspiration from the proximal head of the epididymis: A new treatment for congenital absence of the vas deferens. Fertil Steril 50:525-528. Silber SJ, Ord T, Balmaceda J, Patrizio P, Asch RH (1990) Congenital absence of the vas deferens: The fertilizing capability of human epididymal sperm. N Engl J Med 323:1788-1792. Temple-Smith PD, Southwick GJ, Yates CA, Trounsou AO, de Kretser DM (1985) Human pregnancy by in vitro fertilization (IVF) using sperm aspirated from the epididymis. J In Vitro Fert Embryo Transf 2:119-122. Tournaye H, Devroey P, Liu J, Nagy Z, Lissens W, Van Steirteghem A (1994) Microsurgieal epididymal sperm aspiration and intracytoplasmie sperm injection: A new effective approach to infertility as a result of congenital bilateral absence of the vas deferens. Fertil Steril 61:1045-1051. Trezise AEO, Linder CC, Grieger D, Thompson EW, Meuner H, Griswold MD, Buchwald M (1993) CFTR expression is regulated during both the cycle of the seminiferous epithelium and the oestrous cycle of rodents. Nature Genet 3(2):157-164.

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Watson EK, Marchant J, Bush A, Williamson B (1992) Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic. J Med Genet 29:490-491.

Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions.

Congenital bilateral absence of the vas deferens (CBAVD) occurs in approximately 1.3% of infertile males and is thought to be, in most cases, a primar...
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