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ORIGINAL RESEARCH |
From the First Department of Obstetrics and Gynecology, Semmelweis University School of Medicine, Budapest, Hungary.
Address reprint requests to: Dr. Zoltán Papp, First Department of Obstetrics and Gynecology, Semmelweis University School of Medicine, Budapest, Baross u. 27, 1088 Hungary; e-mail: pz{at}noi1.sote.hu.
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ABSTRACT |
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 ABSTRACT MATERIALS AND METHODSRESULTSDISCUSSIONREFERENCES |
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METHODS: We reviewed the records of patients with fetuses with sex chromosome aneuploidy between 1990 and 2001. A questionnaire survey of women who chose to terminate such pregnancies was designed to examine aspects of their decision-making process.
RESULTS: Forty-nine of 89 pregnancies with sex chromosome aneuploidy were terminated (termination rate 0.55; 95% confidence interval 0.45–0.65). Pregnancies with abnormal ultrasound findings (14/16, 87%), with 45,X or 47,XXY karyotypes (26/36, 72%), and with nonmosaic karyotypes (30/48, 63%) were terminated significantly more often than pregnancies with normal ultrasound findings (35/73, 48%; P < .01), with 47,XXX or 47,XYY karyotypes (4/12, 33%; P < .05), and with mosaic karyotypes (5/25, 20%; P = .01). There was a trend (P = .136) toward a lower rate of termination from 67% to 36% across time, with a significant decrease from 67% to 7% in pregnancies with 47,XXX; 47,XYY; and mosaic karyotypes (P < .01), and no change in cases with 45,X and 47,XXY karyotypes (67% compared with 69%; P = 1.0). Abnormal sexual development and infertility were the greatest parental concerns related to termination.
CONCLUSION: Fear of having a child with abnormal sexual development or infertility remains the major determinant of parental decision toward terminating pregnancy, resulting in consistently high termination rates across time in pregnancies with 45,X and 47,XXY karyotypes. In cases with 47,XXX; 47,XYY; and mosaic karyotypes, the declining termination rate across time is a consequence of recent studies reporting normal sexual development and fertility.
LEVEL OF EVIDENCE: II-2
During the past 2 decades, our knowledge about sex chromosome aneuploidy has dramatically increased. The initial information about the effects of these anomalies was introduced in the 1960s. It was based on case reports or studies on individuals in mental and penal institutions, which resulted in many disturbing and inaccurate stereotypes about these abnormalities.2 By the early 1990s, data became available from several prospective, long-term studies that followed up children with sex chromosome aneuploidy from birth into young adulthood.3–7 These data have completely changed the opinion about sex chromosome aneuploidy and, at times, have given counselors much more optimism. Today, it is well established that sex chromosome aneuploidy, especially cases with 47,XXX; 47,XYY; and mosaic karyotypes, has a much less detrimental effect on intelligence and phenotype than was thought previously. The phenotype of most sex chromosome aneuploidy cases is usually mildly affected; the risk for sexual developmental problems is increased, but most individuals fall in the normal range of development, and marked abnormality is not usually seen. Hence, the majority of individuals with sex chromosome aneuploidy will go through life without knowing they have the condition.8,9
As a consequence of these new findings, recent studies have been shown a declining trend during the past 2–3 decades in termination rates after the diagnosis of different types of sex chromosome aneuploidy.10,11 However, there are fairly wide differences in termination rates among various centers, from an unusually low 13% termination rate reported in Munster12 to a fairly high 80% termination rate reported in Jerusalem.13 Most reports documented termination rates between 32% and 68%.8,10–17 The factors that determine the parental decision regarding pregnancy termination or continuation are being intensively investigated but are generally poorly understood. Previous studies have found a significant correlation between the severity of the diagnosed anomaly and the parental decision toward termination. Other factors, such as the type and time of the invasive prenatal diagnostic technique, pregnancy and family history, and maternal age can also significantly influence parental decisions.10,14 Although it is suggested that the large differences in the termination rates among countries and regions are most likely associated with cultural differences in the perception of abnormalities of sex chromosome aneuploidy on the part of parents and health care professionals, their roles in parental decision making have been much less analyzed and remain to be determined.18
In this study we first performed a retrospective analysis of our prenatally diagnosed sex chromosome aneuploidy cases from the past 12 years to document the termination rates according to different conditions and to evaluate factors that influenced the parental decision about the pregnancy. Second, a brief questionnaire was administered in an attempt to uncover the parental perceptions, and perhaps misconceptions, that influenced the decision making. Women who chose to terminate their pregnancies with prenatally diagnosed fetal sex chromosome aneuploidy were interviewed to learn what information was given to them about possible abnormalities associated with the diagnosed type of sex chromosome aneuploidy and to identify what predominated in their decision toward termination. In addition, we gained information about the counselors’ directiveness as well as about the parents’ feelings and general comfort with their decisions.
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MATERIALS AND METHODS |
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ABSTRACTMATERIALS AND METHODSRESULTSDISCUSSIONREFERENCES |
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The patients who had amniocentesis or chorionic villus sampling at our department had undergone formal genetic counseling before the invasive procedure and posttest counseling with the result of the karyotyping. In the cases with a positive test for fetal sex chromosome aneuploidy, a high-resolution diagnostic ultrasound scan was routinely performed to examine fetal structural malformations. Subsequently, families were counseled by 1 of the 3 expert obstetricians who specialized in medical genetics. All 3 obstetricians counseled throughout the examined 12-year period using standard criteria to give generally the same information to the patients. The criteria, at any particular time, were based on the most recent medical literature available that provided guidelines for counseling in the case of prenatally diagnosed sex chromosome aneuploidy.8,19–21 The posttest counseling session consisted of an extensive explanation and discussion about the specific type of sex chromosome aneuploidy diagnosed and took approximately 1 hour. Parents were informed about the characteristics, prognosis, management, and current and possible future treatment options of the abnormalities usually associated with the diagnosed sex chromosome aneuploidy. In the cases of mosaic sex chromosome aneuploidy, families were counseled regarding a wide spectrum of features ranging from a normal phenotype to classic features of the specific sex chromosome aneuploidy.
This study was primarily designed to summarize our experience with prenatally diagnosed sex chromosome aneuploidy during the past 12 years to evaluate the most important factors influencing parental decisions to continue or terminate the pregnancy. The following factors were examined: presence or absence of abnormal ultrasound findings, type of nonmosaic sex chromosome aneuploidy, presence or absence of mosaicism, type of invasive prenatal diagnostic procedure performed, maternal age, pregnancy history, marital status, and education. We analyzed differences in parental decisions across time as well. Religious and ethical beliefs were not studied systematically at the time and cannot be reported here. In addition, we attempted to examine parental perceptions of the information provided to them by the counselor during the posttest session and how it affected their decisions about termination. To this end, women who chose termination after prenatal diagnosis of sex chromosome aneuploidy were mailed a brief semistructured questionnaire and were requested to complete and return it using an enclosed envelope. This short form consisted of 4 questions designed to determine the following details: 1) The woman's recall and description of the possible abnormalities of sex chromosome aneuploidy mentioned at the posttest session by the counselor, such as abnormal sexual development, infertility, cardiac and kidney abnormalities, higher risk for other organic diseases, reduced intelligence quotient, learning and educational problems, behavioral problems, tall or short stature, unspecified anomaly, uncertainty about prognosis, and other concerns; 2) the women's recall of the abnormality that they found to be the most threatening and predominated in their decision for terminating the pregnancy; 3) the women's recall of the counselor's directiveness and attitude at the posttest session; and 4) their recall of their general comfort with and feelings toward the decision made. Beneath each question and at the end of the questionnaire, patients were given the opportunity to make additional comments on any of the topics, including their emotional reaction and feelings. The study was approved by the department's review committee.
Statistical analyses were done by using the Sigmastat 3.0 statistical package (SPSS Inc., Chicago, IL). The 
2 test or the Fisher exact test was used for comparisons between groups. Exact binomial confidence intervals (CIs) were calculated for estimated proportions because of the limited sample. Results were considered statistically significant at P 
.05.
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RESULTS |
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ABSTRACTMATERIALS AND METHODSRESULTSDISCUSSIONREFERENCES |
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Altogether, 89 families with fetal sex chromosome aneuploidy were counseled in our department during this period; 49 of them chose to terminate the pregnancy (overall termination rate 0.55; 95% CI 0.45–0.65). Seventy-three (78%) of them had a normal ultrasound scan, and 16 (22%) fetuses had an obvious ultrasound anomaly, including fetal hydrops (n = 2), cystic hygroma (n = 10), multiple anomaly (n = 2), and in 2 additional cases the type of abnormality found by ultrasonography was not documented. All of these were found in cases of Turner syndrome. Fetuses with a sonographic marker of Down syndrome were considered as cases with normal ultrasound findings. Of the women with an abnormal fetal ultrasound finding, 14 terminated their pregnancy (termination rate 0.87; 95% CI 0.64–0.96), whereas among the women with a normal fetal ultrasound scan, 35 terminated their pregnancy (termination rate 0.48; 95% CI 0.37–0.59). From a comparison of these data, it seemed that the presence of an obvious fetal anomaly (visualized by ultrasonography) had a major influence on the parents’ decision to terminate pregnancies (termination rates: 87% compared with 48%; P < .01); therefore, analysis of all other factors excludes these 16 cases.
The parental decisions according to the type of nonmosaic sex chromosome aneuploidy are summarized in Table 1. Thirty of 48 pregnancies were terminated (termination rate 0.63; 95% CI 0.48–0.75). Comparison showed that pregnancies with diagnoses of more severe 45,X and 47,XXY karyotypes were terminated significantly more often (26 of 36, termination rate 0.72; 95% CI 0.56–0.84) than pregnancies with diagnoses of less severe 47,XYY and 47,XXX karyotypes (4 of 12, termination rate 0.33; 95% CI 0.14–0.61; termination rates: 72% compared with 33%; P < .05).
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The parental decisions on mosaic karyotypes are shown in Table 2. Twenty-five pregnancies were diagnosed with mosaicism, of which 5 were terminated (termination rate 0.20; 95% CI 0.09–0.39). Comparing these data on mosaic sex chromosome aneuploidy with data on nonmosaic sex chromosome aneuploidy (Table 1), it became clear that pregnancies with nonmosaic sex chromosome aneuploidy were terminated significantly more often than pregnancies with mosaic sex chromosome aneuploidy (termination rates: 63% compared with 20%; P < .01).
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Other factors examined were not found to be significant decision-making factors. Twenty-seven of 59 pregnancies after amniocentesis were terminated (0.46; 95% CI 0.34–0.58) compared with 8 of 14 pregnancies after chorionic villus sampling (0.57; 95% CI 0.32–0.78; P = .60; not significant [NS]). The maternal age was 33 years (range, 21–42 years) in both groups (P = 1.00; NS). No difference was found in termination rate between women with children compared with women without children (P = .60; NS), between married compared with unmarried women (P = .80; NS), and between women with an academic education compared with less well-educated women (P = .40; NS).
The parental decisions after prenatal diagnosis of sex chromosome aneuploidy by periods are summarized in Table 3. A declining trend, albeit insignificant, was observed in parental decision across time; the overall rate of termination between 1990 and 1992 was 67% (6 of 9; 95% CI 0.35–0.88) compared with 36% (10 of 28; 95% CI 0.21–0.54) between 1999 and 2001 (P = .13; NS). We also analyzed the parental decision across time according to the different karyotypes. Because of the small sample size, comparison was made only between less severe (47,XXX; 47,XYY; mosaics) and more severe (45,X; 47,XXY) karyotypes. In pregnancies with fetal 47,XXX; 47,XYY; and mosaic karyotypes there was a remarkable decrease across time: The rate of termination between 1990 and 1992 was 67% (4 of 6; 95% CI 0.29–0.90) compared with 7% (1 of 15; 95% CI 0.02–0.30; P < .01) between 1999 and 2001, whereas no change was found in parental perception in cases with fetal 45,X and 47,XXY karyotypes (termination rates: 0.67; 95% CI 0.19–0.93 compared with 0.69; 95% CI 0.42–0.87; P = 1.0).
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We tried to contact all of the 35 women who terminated their pregnancies with sex chromosome aneuploidy after a normal fetal ultrasound finding; 20 of them (57%) completed and returned the questionnaire and took part in this further investigation. Eight of them were diagnosed with fetal Turner syndrome, 6 with fetal Klinefelter syndrome, 2 with fetal 47,XXX, 1 with fetal 47,XYY karyotypes, and 2 with fetal mosaic sex chromosome aneuploidy. Cases from all 4 periods that were examined were represented in this sample. According to the questionnaire responses, 17 women recalled precisely the abnormalities that are frequently associated with the diagnosed type of sex chromosome aneuploidy and that were mentioned at the posttest session. Only 3 women recalled mistakenly an additional abnormality that was not part of the diagnosed syndrome.
The data regarding the abnormality that was cited as the main reason for termination are shown in Table 4. Among those 3 women who mistakenly recalled an additional abnormality, none identified it as the main reason behind termination. All women diagnosed with fetal 45,X or 47,XXY karyotypes (n = 14) identified abnormal sexual development or infertility as the main reason behind termination, whereas from among women with fetal 47,XXX; 47,XYY; or mosaic karyotypes (n = 6), 2 cited the unspecified anomaly, 2 were concerned about the uncertainty of the prognosis, 1 about the reduced intelligence quotient, and only 1 (with fetal mosaic Turner syndrome) described infertility as the most threatening.
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Altogether, 12 of 20 women reported that the counseling was rather directive (directiveness rate: 0.60; 95% CI 0.38–0.78), and all were protermination. The reported directiveness rates across periods are shown in Table 5. Between 1990 and 1992, all women (2 of 2) reported the counselors rather directive (1.00; 95% CI 0.29–0.99), whereas between 1999 and 2001, only half of the women (4 of 8) reported directiveness (0.50; 95% CI 0.21–0.79). The difference was not statistically significant (P = .46), likely because of the very small sample size and limited power, which made the statistical analysis inappropriate. All of the interviewed women provided positive information about their general sense of well-being toward the decision that they had subsequently made and reported themselves as having come to terms with their decision.
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DISCUSSION |
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ABSTRACTMATERIALS AND METHODSRESULTSDISCUSSIONREFERENCES |
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The presence or absence of fetal anomalies detected by ultrasound examination had a strong influence on the parents’ decisions regarding their pregnancies. This result was also observed by other studies,10,14,23 suggesting that the visualization of a structural abnormality in the fetus is easier for parents to comprehend than a verbal explanation about additional or deficient chromosome material.23
Pregnancies with a diagnosis of Turner syndrome (45,X) and Klinefelter syndrome (47,XXY) were terminated more often than pregnancies with diagnosis of 47,XXX and 47,XYY. The data from Table 4 suggest that this difference results from parental concern of having a child with abnormal sexual development or infertility, which are usually presented as parts of Turner or Klinefelter syndromes but not of 47,XXX or 47,XYY karyotypes. Furthermore, Turner and Klinefelter syndromes are frequently associated with clinical manifestations, including cardiac and kidney problems, gynecomastia, lack of secondary sexual characteristics, and reduced intelligence quotient, which might also be threatening for the parents.11,24 In contrast, individuals with 47,XXX and 47,XYY are often taller in stature but are not usually associated with other clinical manifestations.8,10,14
The milder phenotype for individuals with a mosaic karyotype is more likely to lead to a continuation of the pregnancy. Similar results have also been published in previous studies and can be explained by the fact that the severity of the abnormal karyotype has a major influence on the parent's decision toward termination.14,23
Although a difference was not found in the parental decisions between first trimester chorionic villus sampling and second trimester amniocentesis, our data suggest that couples seem more inclined to terminate a pregnancy with sex chromosome aneuploidy when the diagnosis has been made in the first trimester. Similar results were also observed by other groups considering sex chromosome aneuploidy cases15 or all abnormal cytogenetic prenatal diagnoses.10,23 Our data further confirms that patients’ decisions about termination are focused on the severity of the disorder and only marginally influenced by the gestational age at the time of the diagnosis.10
We observed a trend, albeit insignificant, toward a decreasing rate of termination across the study period. However, it should be noted that the low sample values and limited power may mask significant differences that might have been detected with a larger number of cases studied. A highly significant decrease in termination rate across time was observed in British Columbia from 100% in 1976 to 1979 to 54% in 1995 to 1997.11 A similar, insignificant trend was reported from Michigan.10 The lower termination rate across time is thought to be a consequence of the publication of long-term, prospective outcome studies done on children followed up from birth into young adulthood, which made the counselors much more optimistic about the prognosis of individuals with sex chromosome aneuploidy than was originally expected.3–7 Furthermore, our results indicate that the observed declining trend across time in termination rate is a direct consequence of the dramatic decrease in termination rates in pregnancies with 47,XXX; 47,XYY; and mosaic karyotypes, and not in cases with Turner or Klinefelter syndrome, where parental decisions were not changed across time.
Unlike our results, some other studies documented significantly higher termination rates when the parents are younger, have fewer previous children,14 and are less educated.4 Our sample size may not reveal small differences between groups; however, it is suggested that the cultural differences in the perceptions of parents and health care professionals regarding quality of life with this condition may mask influences of these factors and may also be the most likely explanation of the various termination rates between centers.18
The professional identity of the information provider is another factor which may influence the parental decision making in prenatal diagnosis of sex chromosome aneuploidy. Other studies have shown that the decision to terminate was made more often when the postdiagnosis counseling was given by an obstetrician compared with a medical geneticist;14,18,25 the obstetricians were more likely than geneticists to provide more negative information about the condition of 1 specific type of sex chromosome aneuploidy.18 In our study, we were unable to examine the influence of this factor, because all the couples were counseled by obstetricians with a subspecialty in medical genetics. In Hungary, the vast majority of health professionals who perform prenatal invasive procedures and conduct genetic counseling are obstetricians.
Most of the women in our study recalled the possible abnormalities associated with the diagnosed sex chromosome aneuploidy type that were mentioned during the posttest session. This observation correlates with previous literature demonstrating that women who receive a prenatal diagnosis of a chromosome abnormality remember the circumstances precisely and recall the information given them, sometimes with the exact words used to deliver the news, even after several years.26 Among women with fetal 45,X or 47,XXY karyotypes, abnormal sexual development and infertility were the most threatening and influenced their decision toward termination, whereas among women with fetal 47,XXX; 47,XYY; or mosaic karyotypes, the general fear of uncertainty and of something abnormal or different was most frequently described as the major reason for termination. Similar results were also demonstrated recently in Jerusalem,13 noting that these abnormalities have a pivotal influence on the parental decision regardless of cultural differences. Furthermore, our data also indicate that the decreased termination rates of pregnancies with fetal 47,XXX; 47,XYY; and with mosaic sex chromosome aneuploidy in recent years is a consequence of reduced parental concern about unspecified anomaly or general uncertainty about the prognosis. Therefore, it is essential for all counselors dealing with sex chromosome aneuploidy to define all of the possible abnormalities frequently associated with the diagnosed type of sex chromosome aneuploidy to further reduce the uncertainty. Standardized protocols must be followed according to the latest guidelines, provided by the most recent literature at any particular time, with consideration of local cultural differences in parental perceptions to minimize the discrepancies in the information that is provided to parents between medical professionals, and even individual counselors.8,19–21 The couples should be informed with the most reliable and accurate information about the possible abnormalities, expected prognosis, and current and potential future treatment options so they are able to make an informed decision about the pregnancy in accordance with their own values and to come to terms with their decision.
Because the counselor's attitude exerts an essential influence on parental perception, the way in which parents are counseled is extremely important. Although in accordance with the principle of nondirectiveness,27 patients counseled at our institute about sex chromosome aneuploidy were not given direct advice to continue the pregnancy or abort it, more than half of the interviewed women reported that the counseling was rather directive. Our reported directiveness (60%) corresponds to that in recent literature. In a representative study surveying approximately half of the practitioners in the United States, 72% of the 383 practitioners reported that they are sometimes directive, and it may not be possible to be nondirective in all situations.28 Another remarkable study found that in most genetic counseling sessions some guidance or advice was given.29 The declining rate in reported directiveness may be a result of our constant effort to remain nondirective, but it cannot be excluded that the elapsed time changed women's recall about the counselor's directive attitude.
Interview analysis of the question of whether they approved or regretted their decisions and the women's comments have shown that all of the women have come to terms with their decision and reported a general sense of well-being and positive feeling. We consider this to be positive feedback from our counseling work and our special attention and effort to those diagnosed with sex chromosome aneuploidy, but the participation bias may also contribute to the outcome of sense of well-being.
Although this study was done on a limited number of cases, it has been able to identify and confirm some of the factors associated with the parental decision toward continuing or terminating the pregnancy after prenatal diagnosis of sex chromosome aneuploidy and provide additional information for counselors. Future research is needed to further analyze and understand the roles of these factors in the parental decision process.
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Footnotes |
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Supported in part by a grant from the Hungarian National Research and Development Program of the Hungarian Ministry of Education to Zoltán Papp (NKFP-1/044/2001) and by the Semmelweis Ignac Foundation.
The authors thank the women who took part in our study and shared their experiences.
10.1097/01.AOG.0000128171.14081.eb
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REFERENCES |
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2. Polani PE. Abnormal sex chromosomes, behavior and mental disorder. In: Tanner J, editor. Developments in psychiatric research: essays based on the Sir Geoffrey Vickers Lectures of the Mental Health Foundation (formerly Mental Health Research Fund). London: Hodder and Stoughton; 1977. p. 89–128.
3. Robinson A, Lubs HA, Bergsma D, editors. Sex chromosome aneuploidy: prospective studies on children. New York (NY): A R. Liss; 1979. (Birth defects: original article series, vol. 15, no. 1).
4. Robinson A, Bender BG, Linden MG. Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. Am J Med Genet 1992;44:365–8.[Medline]
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8. Linden MG, Bender BG, Robinson A. Intrauterine diagnosis of sex chromosome aneuploidy. Obstet Gynecol 1996;87:468–75.[Abstract]
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