Psychological characteristics of and counseling for carriers of structural chromosome abnormalities

Abstract

ABSTRACT. Infertility as a psychological problem has gained increasing attention. Male partners among infertile couples have elevated levels of psychological distress, which could affect semen quality, result in hormonal abnormalities, and increase the occurrence of early miscarriage. Infertile women are more vulnerable to psychological distress and require psychological support. Subfertile women who conceive after assisted reproduction have higher stress, anxiety, and depression levels. Psychological interventions have been shown to have beneficial effects on infertility patients. However, psychosocial characteristics of carriers of structural chromosome abnormalities have not been studied. We report the characteristics of carriers of structural chromosome abnormalities and their influence on psychological counseling. Seventy-five patients were carriers of reciprocal translocations, 25 carried Robertsonian translocations, 17 carried inversions, 10 carried deletions, and 3 carried isochromosomes. The main clinical characteristics were recurrent spontaneous abortion, oligospermatism, azoospermatism, primary amenorrhea, and fetal death. Self-rating anxiety scale (SAS) and self-rating depression scale (SDS) scores of women with structural chromosome abnormality were significantly higher than those scores of women with normal karyotype. SAS and SDS scores of men with structural chromosome abnormality were significantly higher than those of men with normal karyotype. SAS and SDS scores of women with structural chromosome abnormality were significantly higher than their scores of men with structural chromosome abnormality. Women carriers with structural chromosome abnormality were more vulnerable to psychological distress. Psychosocial counseling for carriers of structural chromosome abnormalities should focus on self-confidence and treatment with assisted reproductive technology.

Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications

“…Lymphocytes were cultured in lymphocyte culture fluid (Yishengjun; Baidi Biological Pharmaceutical Co., Ltd., Guangzhou, China). The karyotypes of metaphase were analyzed for each subject (Wang et al, 2016).…”

“…For counseling individuals with chromosomal abnormalities, accurate information and assessment of associated medical conditions should be offered at diagnosis and should be followed by psychological counseling (Gies et al, 2014;Zhang et al, 2015a;Wang et al, 2016). In this study, reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support, has been reported and its implications in genetic counseling have been discussed.…”

“…Infertility, as a psychological problem, has received an increasing amount of attention (Zhang et al, 2015b). Psychological distress in carriers of chromosomal abnormalities should be taken seriously (Spitczok von Brisinski, 2013;Wang et al, 2016). Severe depressive symptoms are significantly associated with increased infertility-related distress at individual and partner levels (Peterson et al, 2014).…”

Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports

“…These two scores of women with structural chromosome abnormalities were significantly higher than those of men with structural chromosome abnormalities. These results indicate that female carriers of structural chromosome abnormalities are more vulnerable to psychological distress and require psychological support [19].…”

Genetic counselling for infertile men of known and unknown etiology

“…However, given the evidence that men who are "socially isolated, have an avoidant style and appraise stressful events as overwhelming are particularly vulnerable to more severe anxiety" (16), it is important from a genetic counselling perspective to be cognizant of the potential psychological impact of infertility to males and assess from the onset their emotional well-being and coping mechanisms. In contrast, as an infertile couple, the rates of symptoms of anxiety (24.2%) and depression (20%) have been noted to be higher than corresponding controls (13.7% and 9.5% respectively) (27). Males with infertility and their partner navigate many emotional reactions in their journey to achieve a pregnancy.…”