29 research outputs found
Family functioning and psychological well-being of 5 to 6 -year-old singletons born after pre-implantation genetic diagnosis; a prospective case-controlled matched study
Fertility preservation in female cancer patients: current knowledge and future perspectives
Cognitive and motor development of 5-6 year old PGD children and their perceptions of their families
Cognitive and psychomotor development of 5 to 6-year-old singletons born after preimplantation genetic diagnosis; a prospective case-controlled matched study
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics?:A systematic review
Patient-reported outcome measures (PROMs) are used to facilitate patient-centered care (PCC). While studies in patients with cardiac conditions have revealed poorer health-related quality of life (HRQoL) and elevated emotional stress, studies in inherited cardiac conditions (ICC) seem rare. A systematic review evaluated which (specific domains of) PROMs are used in patients with ICC. From three databases (PubMed, PsychINFO, and Web of Science) quantitative studies investigating PROMs in patients with ICC were included. A Cochrane-based assessment tool was used to evaluate quality and potential risk of bias per subdomain. Data from 17 eligible articles were extracted. Among the included studies, risk of bias was predominantly high (35%) or unclear (30%). Most (n = 14) studies used a generic health status measure (SF-36, SF-12); 3 studies used a disease-specific PROM (KCCQ- cardiomyopathy and MLFHQ-heart failure). In addition to HRQoL measures, several studies used affective psychological measures (i.e., HADS, CAQ-18, IES-R, and IPQ). The mental health component of the PROMs showed lower scores overall in patients with ICC compared to population norms. Nine studies using HADS and GAD-7/PHQ-9 showed a prevalence of clinically significant anxiety (17–47%) and depression levels (8.3–28%) that were higher than the population norm (8.3% and 6.3%, respectively). HRQoL in patients with ICC is primarily assessed with generic PROMs. Results further confirmed high psychological morbidity in this population. Generic PROMS measures evaluate overall health status, but lack sensitivity to ICC-specific factors like heredity-related concerns. We propose developing a PROM specific for ICC to optimize PCC
Cognitive and motor development of 5-6 year old PGD children and their perceptions of their families
International comparison of parenting styles in ICSI, IVF and natural conception families: results from a European study
In studies comparing ART children born in different countries cultural factors mediate outcomes on child development and parenting. The aim of the study was to investigate whether the variability between the parents living in different cultures is the same regardless of whether these parents conceived after ICSI-IVF or naturally. Questionnaires measuring parental wellbeing, attitudes to family life and parent-child relationships were distributed to parents of 5-year-old ICSI, IVF and natural conceived (NC) control children in the UK (n = 510), Belgium (n = 512), Denmark and Sweden (n = 400). Participation rates were not known for every conception group in each country. However, the participation rate was 45% in the ICSI and IVF conception groups in Belgium, 90% in the ICSI conception group in the UK and 82%, 76% and 56% in the ICSI, IVF and NC groups, respectively, in Denmark and Sweden. In the UK mothers and fathers experienced less marital satisfaction compared to their counterparts in the other countries. Compared to the mothers in Belgium and in the Nordic countries, the mothers in the UK who conceived after ICSI, IVF or naturally reported more stress from parenting. In Belgium ICSI, IVF and NC mothers were highly committed to work while Belgian fathers were least committed to parenting when compared to fathers in Nordic countries and the UK. Mothers in Nordic countries differed from other mothers in that they described fewer negative feelings towards their ICSI, IVF or NC offspring. Although international multi-centre ART follow-up studies help to investigate the wellbeing of ART children and parents the effect of living in a particular culture or nation needs to be taken into account
First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome.
To report the case of a young woman diagnosed with Turner syndrome (TS) who achieved a live birth using her own oocytes that had been vitrified for fertility preservation. A 25-year-old woman with mosaic (45,X/46,XX) TS was referred for fertility preservation (FP) counseling. Serum anti-Müllerian hormone (AMH) level was normal (6.4 µg/L). In view of the unpredictable rate of follicle loss in TS individuals, she requested FP and underwent two cycles of ovarian stimulation (OS) for oocyte cryopreservation (OoC) using a GnRH antagonist protocol and recombinant follicle stimulating hormone (rFSH), 200-250 IU daily for 8 resp. 12 days. In total, 29 metaphase II oocytes (MII) were vitrified after OS. After conceiving spontaneously and achieving a live birth, she returned to the clinic five years after OoC with a desire for pregnancy using in vitro fertilization (IVF) of her cryopreserved oocytes and preimplantation genetic testing (PGT-A). All 29 MII oocytes were thawed; 23 oocytes survived (79.3%) and were inseminated with partner sperm using intracytoplasmic sperm injection (ICSI). Thirteen oocytes were fertilized resulting in three good quality blastocysts which were vitrified after trophectoderm biopsy for PGT-A using array-CGH. Two blastocysts were found to be euploid. One was thawed and transferred to the uterus using a HRT priming protocol. An uneventful pregnancy occurred. The patient delivered a healthy baby girl weighing 3490 g at 40 weeks of gestation. We report the first live birth achieved using cryopreserved oocytes in a woman diagnosed with mosaic TS. Cryopreservation of oocytes after ovarian stimulation is a realistic option for FP in selected post menarche individuals with mosaic TS. Whether PGT-A may reduce the risk of pregnancy loss in TS has to be confirmed by further studies