[The joys and burdens within clinical genetics - paternal discrepancy causes dilemmas.]
Journal - Nederlands tijdschrift voor geneeskunde
We present three cases, a 25-year-old woman, a 52-year-old man and a 45-year-old woman, in whom paternal discrepancy (PD) adversely influenced genetic counselling. PD, with an estimated prevalence between 2% and 3%, occurs when a child is identified as being biologically fathered by someone other than the man who believes he is the father. The discovery of PD during genetic testing can cause health problems and psychosocial damage, and can increase costs, as illustrated by our three cases. Opinions vary about whether or not to disclose this sensitive information, and we recommend being as straightforward as possible, while trying to minimize any harm caused. Since genetic techniques that identify PD are improving and increasingly applied, health care providers must be prepared to deal with issues of this nature.
[In Process Citation]
Journal - Nederlands tijdschrift voor geneeskunde (Netherlands )
A 37-year-old woman with breast cancer, multinodular goiter, an hamartomatous intestinal polyp, papillomatosis of the tongue and macrocephaly was diagnosed with Cowden's syndrome.
Genetic counselling for familial conditions during pregnancy: a review of the literature published during the years 1989-2004.
Journal - Community genetics (Switzerland )
BACKGROUND: Genetic counselling for familial conditions during pregnancy may have some disadvantages, such as time pressure and induced worry. However, little is known about the reasons for and consequences of this timing of genetic counselling. OBJECTIVE: The objective of this study was to provide an overview of research aimed at the counselee's reasons for seeking genetic counselling during pregnancy and the medical-technical and procedural consequences thereof. METHODS: We searched the databases Medline and PsycINFO for primary research papers, reviews and case reports, published from 1989 to June 2004. RESULTS: No papers could be retrieved which explicitly addressed our research questions. However, 34 papers, out of a total of 399 papers, covered issues with some relevance to our research questions. Limited knowledge and alertness towards genetics and a greater apparent relevance of genetic issues during pregnancy seemed to explain, at least partly, the timing of referral during pregnancy. Literature on the consequences of this timing for the quality of the genetic counselling process appeared to be scarce. These consequences, therefore, remain unclear. CONCLUSION: In the literature, little attention is paid to the various aspects of the timing of genetic counselling for familial conditions during pregnancy. More research on this issue is important, with a view to improving the care of pregnant women and their children.Copyright 2007 S. Karger AG, Basel.
|ISSN : ||1422-2833|
|Mesh Heading : ||Female Genetic Counseling Humans Pregnancy Pregnancy Complications Prenatal Diagnosis Publishing|
|Mesh Heading Relevant : ||Ethics, Medical methods genetics methods statistics & numerical data|
A comparison of counselee and counselor satisfaction in reproductive genetic counseling.
Journal - Clinical genetics (Denmark )
Important insights in the process of genetic counseling can be provided by establishing levels of satisfaction. The aim of our study was to compare counselees' and counselors' satisfaction with the initial consultation in reproductive genetic counseling and to gain insight into the factors associated with their contentment. One hundred and fifty-one women and 11 counselors participated in this study. Pre-test questionnaires included counselees' socio-demographic, physical and psychological characteristics, i.e. their degree of worry, expectations, preferred participation in decision making and experienced degree of control. Post-visit questionnaires asked for counselees' and counselors' satisfaction, counselees' participation in decision making and counselees' Perceived Personal Control (PPC). Little difference was found between counselees' and counselors' overall visit-specific satisfaction (mean 79 vs 74, respectively, on a visual analogue scale from 0 to 100). The correlation between counselees' and counselors' satisfaction was medium sized (r = 0.26, p < 0.01). Counselees' satisfaction was positively associated with being pregnant and with their post-visit PPC. Counselors' satisfaction was positively associated with counselees' post-visit PPC. No other counselee and counselor related variables appeared to be associated with satisfaction, nor was the duration of the consultation. Our findings suggest that, although both groups were satisfied with the consultation, counselees and counselors do not always have equal perceptions of the consultation process and may form their evaluation in different ways. In the assessment of quality of care, evaluation of both counselees' and counselors' satisfaction deserves more attention.
|ISSN : ||0009-9163|
|Mesh Heading : ||Adolescent Adult Attitude to Health Directive Counseling Female Genetic Counseling Humans Male Middle Aged Questionnaires|
|Mesh Heading Relevant : ||Communication Patient Education as Topic Patient Satisfaction psychology|
Counselor-counselee interaction in reproductive genetic counseling: Does a pregnancy in the counselee make a difference?
Journal - Patient education and counseling (Ireland )
OBJECTIVE: To investigate the influence of a pregnancy and other counselee characteristics on several aspects of counselor-counselee interaction during the initial clinical genetic consultation. METHODS: The consultations, of a group of pregnant women (n = 82) and of a control group of non-pregnant women (n = 58), were compared specifically with regard to differences in global affective tone, extent of psychosocial exchange and women's participation in the decision-making process. Consultations were recorded, and subsequently coded from audiotape by 10 raters. RESULTS: Only two differences in outcome measures were found between the two study groups: the counselor was rated as slightly more nervous in consultations with pregnant women, and in consultations with non-pregnant women fewer decisions were taken. The length of the consultation, the contribution of a counselee's companion to the consultation and counselee characteristics (age, level of education, initiation of referral, affected person, degree of worry and preferred participation in decision-making) were more important in explaining the nature of the interaction. CONCLUSION: Our study yielded no important differences in counselor-counselee interaction during the initial clinical genetic consultation of pregnant versus non-pregnant women regarding the affective tone of the consultation, the degree to which psychosocial issues were discussed and the women's participation in the decision-making process. PRACTICE IMPLICATIONS: Our findings suggest that a negatively affected counselor-counselee interaction is not an important disadvantage in consultations with pregnant women. Given the limitations of our study, however, we advocate further studies on counselor-counselee interaction in reproductive genetic counseling, in order to improve the quality of reproductive genetic counseling.
|ISSN : ||0738-3991|
|Mesh Heading : ||Adolescent Adult Case-Control Studies Emotions Female Humans Logistic Models Middle Aged Netherlands Pregnancy|
|Mesh Heading Relevant : ||Decision Making Genetic Counseling Physician-Patient Relations psychology|
Referral for genetic counselling during pregnancy: limited alertness and awareness about genetic risk factors among GPs.
Journal - Family practice (England )
BACKGROUND: In many countries, GPs play a key role in the referral to other medical specialists. Referral for reproductive genetic counselling during a pregnancy of women with a genetic risk factor already present before pregnancy has many disadvantages. Nevertheless, some 10-20% of the counsellees who attend a Department of Clinical Genetics for the first time are pregnant. OBJECTIVES: We aimed to explore the role of the GP in referring women for genetic counselling during, instead of before a pregnancy. METHOD: The GPs of 100 pregnant women who received genetic counselling were invited to participate in the study and asked to complete a questionnaire. The topics were: initiation and discussion of aspects of referral to the Department of Clinical Genetics; reasons for the referral during, instead of before a pregnancy; knowledge of genetic counselling; attitudes towards genetic counselling before a pregnancy; and attitudes towards abortion. RESULTS: To our surprise, 29% of the GPs indicated that they had not been involved in the referral to the Department of Clinical Genetics at all. Furthermore, the referral was initiated by the patient herself in most cases (40%) and by the GPs in 31% of the cases. Of the GPs who were involved in the referral, most of them (79%) talked to their patients to different extents about what to expect from their visit to the Department of Clinical Genetics; however, potential choices after an adverse outcome at prenatal diagnosis were discussed less often (60%). The main reason for referring the patient during, instead of before her pregnancy was because the GP was unaware of a potential risk factor before pregnancy (71%) and, consequently, never had a chance to talk about a referral before (71%). Other reasons for referral during pregnancy mentioned by the GPs were reassuring the patient about the health of her unborn child (32%) and the wish of the patient to be referred during pregnancy (31%). GPs considered their knowledge of clinical genetics to be limited (mean score 5, on a scale from 0 to 10). The majority of the GPs were in favour of genetic counselling taking place before, instead of during pregnancy, and they had no great objections to abortion. CONCLUSIONS: During pregnancy, the gatekeeper function of the GP in the referral for genetic counselling is undermined. Limited alertness and awareness among GPs about genetic risk factors in their patients played a major role in this undermined function and in the less appropriate timing of referral. Neither insufficient knowledge nor barriers to acceptance explained this lack of alertness and awareness. We advocate the implementation of routine family history taking in general practice.
|ISSN : ||0263-2136|
|Mesh Heading : ||Chi-Square Distribution Family Practice Female Humans Physician's Practice Patterns Pregnancy Questionnaires Risk Factors statistics & numerical data|
|Mesh Heading Relevant : ||Genetic Counseling Health Knowledge, Attitudes, Practice Physicians, Family Referral and Consultation standards|
[Prenatal genetic counseling in pregnancy: the importance of (early) timely referral ]
Journal - Nederlands tijdschrift voor geneeskunde (Netherlands )
Three women aged 34, 23 and 39 years, who were respectively, 14, 12 and 8 weeks pregnant, requested genetic counselling due to grave genetic diseases in their families. The first woman chiefly wanted to be prepared; an investigation revealed no abnormalities and a healthy child was born. The second needed time to assimilate the information provided and terminated the pregnancy. For the third woman genetic screening was not possible in the short term and furthermore acceptation of the pregnancy was the biggest problem; she gave birth to a healthy child. In the Netherlands, about 800 to 1600 women every year request prenatal genetic counselling when they are already pregnant. The disadvantages of this late timing are the disquiet and uneasiness, the lost options and the time pressure under which difficult decisions have to be taken. Causes of this are a lack of genetic knowledge and psychosocial aspects. Ideally, genetic counselling that deals with reproductive issues should take place prior to conception.
|ISSN : ||0028-2162|
|Mesh Heading : ||Abortion, Eugenic Adult Female Gestational Age Humans Huntington Disease Muscular Dystrophies Netherlands Pedigree Pregnancy Pregnancy Complications Pregnancy Outcome Time Factors Waardenburg's Syndrome|
|Mesh Heading Relevant : ||Genetic Counseling Prenatal Care genetics genetics genetics|
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?
Journal - American journal of medical genetics (UNITED STATES )
We report on a girl with a duplication of chromosome band 11p12-->13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were also present in most of the 11 other published cases with partial trisomy 11p, including 11p12-->13. Recently, it was shown that introduction of additional copies of the PAX6 gene into mice caused very variable eye abnormalities. Therefore, a PAX6 gene dosage effect is likely to be present in mice and humans. The central nervous system may be less sensitive to an altered PAX6 gene dosage, which is consistent with the borderline developmental delay in the present patient. Urogenital abnormalities were absent in this patient and in most of the other patients with partial trisomy of 11p. Therefore, the effect of a WT1 gene duplication on the embryological development of the urogenital tract remains uncertain.
|ISSN : ||0148-7299|
|Mesh Heading : ||Chromosome Aberrations Chromosome Disorders Chromosomes, Human, Pair 11 DNA-Binding Proteins Developmental Disabilities Eye Abnormalities Eye Proteins Face Female Humans Infant Karyotyping Multigene Family Paired Box Transcription Factors Repressor Proteins abnormalities|
|Mesh Heading Relevant : ||Gene Dosage Homeodomain Proteins genetics genetics genetics genetics genetics|
Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.
Journal - Clinical genetics (DENMARK )
We report on a boy with two supernumerary marker chromosomes which were identified by fluorescence in situ hybridization and derived from chromosome 6 and 9. In lymphocytes, a mosaic karyotype was found: 46,XY (17%)/ 47,XY,r(6) (24%)/47,XY,r(9) (20%)/48,XY,r(6),r(9) (39%). Only minor dysmorphic features and mild developmental delay were present. Despite extensive fluorescence in situ hybridization studies using a large panel of probes, we were unable to characterize the marker chromosomes in more detail, mainly because no probes for the chromosome regions involved were available to us. In order to reach a better understanding of the clinical relevance of small supernumerary marker chromosomes, it will be necessary to create a widely available set of probes, covering all chromosome regions.
|ISSN : ||0009-9163|
|Mesh Heading : ||Child, Preschool Developmental Disabilities Face Genetic Markers Humans In Situ Hybridization, Fluorescence Male Psychomotor Disorders abnormalities genetics|
|Mesh Heading Relevant : ||Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 genetics|
Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?
Journal - Clinical dysmorphology (ENGLAND )
Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary teeth, oligodontia, variable root length including dental radiculomegaly, heart defects and cutaneous syndactyly of the 2nd-3rd toes. Abnormalities present in only one of the two patients were a cleft palate and a transverse vaginal septum, respectively. There are numerous similarities between our two patients and the family described by Wilkie et al. ((1993): Clin Dysmorphol 2: 114-119) and all may be examples of the same entity.
|ISSN : ||0962-8827|
|Mesh Heading : ||Adult Face Female Humans Skull Syndrome|
|Mesh Heading Relevant : ||Abnormalities, Multiple Cataract Hearing Loss Heart Defects, Congenital Intelligence Tooth Abnormalities abnormalities abnormalities|
Further delineation of the partial proximal trisomy 10q syndrome.
Journal - Journal of medical genetics (ENGLAND )
We report on a girl with a partial duplication of the proximal part of the long arm of chromosome 10, confirmed by chromosome painting. The phenotypic findings are compared to those found in six other published cases with the same karyotype. Recognition of a specific partial proximal trisomy 10q syndrome seems to be possible, consisting of mild to moderate developmental delay, postnatal growth retardation, microcephaly, prominent forehead, small and deep set eyes, epicanthus, upturned nose, bow shaped mouth, micrognathia, thick and flat helices of the ears, and long, slender limbs. Severe ocular malformations are possibly part of the syndrome. No major phenotypic differences were seen between patients with a duplication of segment 10q11-->10q22 and patients with a duplication of 10q21-->10q22.
|ISSN : ||0022-2593|
|Mesh Heading : ||Adenosine Kinase Adult Child, Preschool Chromosomes, Human, Pair 10 DNA Female Glutamate Dehydrogenase Humans Male Trisomy metabolism genetics metabolism physiopathology|
|Mesh Heading Relevant : ||genetics genetics|
Further delineation of the acro-renal-ocular syndrome.
Journal - American journal of medical genetics (UNITED STATES )
A triad of acral, renal, and ocular abnormalities was reported previously in four families. We report on a fifth family, in which a mother, one of her four sons and one of her two daughters are affected. Major findings in the acro-renal-ocular syndrome are upper limb abnormalities, mainly thumb hypoplasia, eye abnormalities such as coloboma and Duane anomaly and renal migration defects. A close embryological-temporal relationship between the traits of this entity suggest a common monogenic cause. The pattern of inheritance is probably autosomal dominant. Because of a wide variability of clinical manifestations, recognition of the syndrome in individual cases may be difficult.
|ISSN : ||0148-7299|
|Mesh Heading : ||Adult Eye Abnormalities Female Hand Deformities, Congenital Humans Male Middle Aged Pedigree Uterus pathology|
|Mesh Heading Relevant : ||complications complications abnormalities|