scholarly journals Evaluation of women’s attitude to carrier screening

2019 ◽  
pp. 19-23
Author(s):  
Г.Ю. Зобкова ◽  
Е.Е. Баранова ◽  
Н.С. Демикова ◽  
А.Е. Донников ◽  
Н.М. Подзолкова
Keyword(s):  
Autosomal Recessive ◽  
Married Couples ◽  
Carrier Screening ◽  
Carrier Status ◽  
Prenatal Diagnostic ◽  
The Status ◽  
Autosomal Recessive Diseases

Цель: определение и анализ отношения женщин к прохождению скрининга на носительство мутаций в генах наиболее частых аутосомно-рецессивных заболеваний. Методы. Для исследования была разработана анкета, содержащая 11 вопросов, позволяющих оценить отношение женщин к различным видам диагностики. В анкетировании принимали участие 244 женщины фертильного возраста от 18-50 лет. Результаты. Желание пройти исследование на носительство перед зачатием изъявили 81,1% респондентов. 64,3% поддержали бы своего партнера при установлении у него статуса носительства и совместно обратились к врачу. Пройти пренатальную диагностику после установления статуса носительства у обоих партнеров хотели бы 60,7% респондентов. Выводы. В целом, женщины положительно отнеслись к возможности проведения исследования на носительство. Также было отмечено, что результаты исследования мало отразятся на отношениях в уже зарегистрированных браках. Purpose: the study aim was to determine and analyze woman’s attitude to carrier screening of the most common autosomal recessive diseases. Methods. For the study, a questionnaire was developed containing 11 questions to assess the attitude of women to various types of diagnostics. The survey involved 244 women of reproducrive age from 18 till 50 years. Results. 81.1% of respondents expressed a desire to undergo carrier screening before conception. 64.3% would support their partner when partner’s carrier status established and consulted with doctor together. 60.7% of respondents would like to undergo prenatal diagnostic after establishing the status of carriage in both partners. Conclusion. In general, women reacted positively to the possibility of passing carrier screening. It was also noted that the results of the screening will have low effect on the married couples.

scholarly journals P–573 PGT-M for two or more disease carrier patients diagnosed after whole exome sequencing

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
B Kara ◽  
M Cetinkaya ◽  
S Kahraman
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Carrier Screening ◽  
Carrier Status ◽  
Inherited Disease ◽  
Whole Exome ◽  
Inheritance Mode ◽  
Genetic Carrier Screening

Abstract Study question Can whole exome sequencing (WES) before PGT-M identify previously unknown mutations for consanguineous couples having an increased risk of carrying more than one genetic disease? Summary answer WES has been successfully applied in combination with PGT-M by identifying new pathogenic mutations in addition to known gene mutations, extending the scope of PGT-M. What is known already Most couples ignore their risk of being a carrier of an inherited genetic disease until they have an affected child. Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Routine single gene diagnostic tests fail to detect any possible gene defects other than the clinically apparent one. Prospective WES or genetic carrier screening testing of consanguineous couples could identify couples who both are carriers of autosomal recessive diseases and thus encourage them to make informed reproductive decisions. Screening tests using NGS technology simultaneously sequence exons and exon-intron boundaries to determine disease carrier status. Study design, size, duration Between January 2017 and October 2020, a total of 206 PGT-M couples applied to Istanbul Memorial Hospital ART Center. Of these couples, multigene PGT-M workups were carried for twelve couples who were carriers of more than one inherited disease. Eight couples were found to be carriers for two different diseases and four couples were carrying three diseases. All biopsies were performed at the blastocyst stage. Participants/materials, setting, methods For the 12 couples with multigene PGT-M workups the average female age was 31.0 ± 6.2. Nine of them initiated an ART cycle and the mean number of cumulus-oocyte complexes, metaphaseII oocytes, biopsied blastocysts and transferrable PGT-M embryos were 15 ± 6.9, 13.3 ± 6.3, 5.9 ± 2.0 and 2.9 ± 1.9, respectively. PGT-A was routinely performed for all couples with transferrable PGT-M tested embryos except one couple who refused PGT-A. Main results and the role of chance A total of 28 different gene workups were completed for 26 genes. The inheritance mode of the 26 conditions was as follows: 20 autosomal recessive, four autosomal dominant and two X-linked recessive. Out of 12 couples, 9 of them initiated an ART cycle and transferrable embryos were found after PGT-M followed by PGT-A. Eight women had frozen embryo transfers resulting in five healthy babies (3 singletons and 1 twin), two pregnancies still ongoing and one biochemical miscarriage at the time of data collection. The couple who declined PGT-A testing prior to their frozen embryo transfer had anegative bhCG test. Three couples completed their workups but postponed their ART and PGT-M cycle due to Covid–19 pandemic. Limitations, reasons for caution The probability of finding at least one transferrable embryo after PGT-M is influenced by the inheritance mode of the disease. Late-onset diseases presumed to be caused by variants of unknown significance and polygenic diseases that are possibly influenced by environmental factors were not included in this study. Wider implications of the findings: With decreasing costs and improved availability of WES and genetic carrier screening panels, couples, especially consanguineous couples, who were previously shown to have one inherited disease may be offered to be screened for additional undiagnosed inherited diseases that may pose a threat for their offspring. Trial registration number Not applicable

scholarly journals Investigating the status of marital burnout and related factors in married women referred to health centers

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Mahbobeh Nejatian ◽  
Ali Alami ◽  
Vahideh Momeniyan ◽  
Ali Delshad Noghabi ◽  
Alireza Jafari
Keyword(s):  
Marital Satisfaction ◽  
Significant Relationship ◽  
Married Couples ◽  
Married Women ◽  
Health Centers ◽  
Related Factors ◽  
Factors Affecting ◽  
The Status ◽  
Multistage Sampling ◽  
Emotional Burnout

Abstract Background Marital burnout is an important issue in marriage and many factors play an important role in this phenomenon. The aim of this study was to determine the status of marital burnout and the factors affecting married women who were referred to health centers because of it. Methods In this study, 936 women were selected by multistage sampling and data collection was performed using questionnaires of demographic and couple burnout. Data analysis was performed using SPSS software version 24. Results The mean (± SD) of marital burnout, in this study, was 55.46 (± 18.03) (out of 147 score). There was a significant relationship between the level of women's education with total marital burnout, and the subscales of somatic and emotional burnout (P < 0.05). A significant relationship was also observed between mandatory marriage and total marital burnout, as well as subscales of somatic, emotional, and psychological burnout (P < 0.05). A significant relationship was detected and observed between women's participation in training courses of communication skills and total marital burnout, inclusive of the subscales regarding psychological burnout (P < 0.05). The results of linear regression showed a significant relationship between mandatory in marriage, marital satisfaction, marriage duration, and husband's level of education with women's marital burnout. The variables were finally able to predict 12% of marital burnout variance. It should be noted that marital satisfaction had a higher effect on predicting marital burnout (P < 0.001). Conclusions Marital satisfaction was one of the effective factors in predicting marital burnout, so it can be concluded that it is necessary to pay more attention to this issue. Educational programs and examining the factors that enhance marital satisfaction are needed to prevent and reduce marital burnout in married couples.

scholarly journals Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

2021 ◽  
Author(s):  
Suzanne C. E. H. Sallevelt ◽  
Alexander P. A. Stegmann ◽  
Bart de Koning ◽  
Crool Velter ◽  
Anja Steyls ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Rare Variants ◽  
Clinical Care ◽  
Carrier Testing ◽  
Carrier Status ◽  
Routine Diagnostics ◽  
Affected Offspring ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Genetics And Genomics

Abstract Purpose Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test in routine clinical care. Methods We performed exome sequencing (ES) for 100 consanguineous couples. For each couple, rare variants that could give rise to biallelic variants in offspring were selected. These variants were subsequently filtered against a gene panel consisting of ~2,000 genes associated with known AR disorders (OMIM-based). Remaining variants were classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, after which only likely pathogenic and pathogenic (class IV/V) variants, present in both partners, were reported. Results In 28 of 100 tested consanguineous couples (28%), likely pathogenic and pathogenic variants not previously known in the couple or their family were reported conferring 25% risk of affected offspring. Conclusion ES-based PCT provides a powerful diagnostic tool to identify AR disease carrier status in consanguineous couples. Outcomes provided significant reproductive choices for a higher proportion of these couples than previous tests.

scholarly journals Autonomous decisions by couples in reproductive care

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Amal Matar ◽  
Anna T. Höglund ◽  
Pär Segerdahl ◽  
Ulrik Kihlbom
Keyword(s):  
Healthcare Professionals ◽  
Genetic Diseases ◽  
Reproductive Technologies ◽  
Individual Autonomy ◽  
Carrier Status ◽  
Final Decision ◽  
Joint Decision ◽  
Ethical Rationale ◽  
Autosomal Recessive Diseases ◽  
Preconception Expanded Carrier Screening

Abstract Background Preconception Expanded Carrier Screening (ECS) is a genetic test offered to a general population or to couples who have no known risk of recessive and X-linked genetic diseases and are interested in becoming parents. A test may screen for carrier status of several autosomal recessive diseases at one go. Such a program has been piloted in the Netherlands and may become a reality in more European countries in the future. The ethical rationale for such tests is that they enhance reproductive autonomy. The dominant conception of autonomy is individual-based. However, at the clinic, people deciding on preconception ECS will be counselled together and are expected to make a joint decision, as a couple. The aim of the present study was to develop an understanding of autonomous decisions made by couples in the context of reproductive technologies in general and of preconception ECS in particular. Further, to shed light on what occurs in reproductive clinics and suggest concrete implications for healthcare professionals. Main text Based on the shift in emphasis from individual autonomy to relational autonomy, a notion of couple autonomy was suggested and some features of this concept were outlined. First, that both partners are individually autonomous and that the decision is reached through a communicative process. In this process each partner should feel free to express his or her concerns and preferences, so no one partner dominates the discussion. Further, there should be adequate time for the couple to negotiate possible differences and conclude that the decision is right for them. The final decision should be reached through consensus of both partners without coercion, manipulation or miscommunication. Through concrete examples, the suggested notion of couple autonomy was applied to diverse clinical situations. Conclusions A notion of couple autonomy can be fruitful for healthcare professionals by structuring their attention to and support of a couple who is required to make an autonomous joint decision concerning preconception ECS. A normative implication for healthcare staff is to allow the necessary time for decision-making and to promote a dialogue that can increase the power of the weaker part in a relationship.

scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

Common Autosomal Recessive Diseases in Oman Derived from a Hospital-Based Registry

2005 ◽  
Vol 8 (1) ◽  
pp. 27-30 ◽  
Author(s):  
A. Rajab ◽  
B. Bappal ◽  
H. Al-Shaikh ◽  
S. Al-Khusaibi ◽  
A.J. Mohammed
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Diseases

scholarly journals Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Allison M. Jay ◽  
Premchand Anne ◽  
David Stockton
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Autosomal Recessive ◽  
Genetic Test ◽  
Carrier Screening ◽  
Lysosomal Storage ◽  
Cardiac Murmur ◽  
Enzyme Replacement ◽  
Prenatal Test ◽  
Infantile Type

Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to mitigate the effects of the enzyme deficiency. Identification is possible prenatally with testing of both parents. More recently, many states have instituted newborn screening for this condition. Case. We report a patient with infantile-onset Pompe disease with a normal paternal carrier genetic test, born prior to newborn screening for Pompe disease in the state of Michigan. The infant’s father was retested once the infant was diagnosed with Pompe disease postnatally and noted to have a mutation conducive to Pompe disease. Conclusion. Providers should have a strong clinical suspicion for disorders even if prenatal parental carrier screening is normal. A normal parental prenatal test does not exclude the possibility that the fetus may be diagnosed with a disorder postnatally, and pediatricians may be faced with limitations in accuracy of parents’ recollection of parental testing results.

P.arg102ser is a common Pde6? mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

2020 ◽  
pp. 1-15
Author(s):  
Anosha Ali Khan ◽  
Yar Muhammad Waryah ◽  
Muhammad Iqbal ◽  
Hafiz Muhammad Azhar Baig ◽  
Muhammad Rafique ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Multi Centre Study ◽  
Bioinformatic Tools ◽  
Mutation System ◽  
The Status ◽  
The University

Abstract Aim: To explore the genetic cause of autosomal recessive retinitis pigmentosa in consanguineous families. Methods: The multi-centre study was conducted from July 2015 to June 2018 at Liaquat University of Medical and health Sciences, Jamshoro, the University of Sindh, Jamshoro, and Islamia University, Bahawalpur, Pakistan, and comprised families affected with non-syndromic autosomal recessive retinitis pigmentosa. Ophthalmological investigations were done to assess the fundus of the patients and the status of the disease. Pedigrees were drawn and family histories were recorded to find out the mode of inheritance. A 10cc sample of whole blood was obtained from each participant and deoxyribonucleic acid was extracted. Homozygosity mapping was performed using three short tandem repeat polymorphisms closely linked to phosphodiesterase 6A gene, and the linked families were Sanger-sequenced for identification of the mutation. Bioinformatic tools were used to design amplification refractory mutation system assay and to assess the protein structure and pathogenic effects of the mutation. Results: In the 80 consanguineous families, there were 464 individuals, and, of them, 236(51%) were affected with their age ranging between 4 and 80 years. Family history and pedigree drawings revealed autosomal recessive retinitis pigmentosa with early childhood onset. Linkage analysis indicated the homozygosity in 6(7.5%) families. Sanger-sequencing revealed a common mutation c.304C>A (p.Arg102Ser); segregating with the disease in the linked families. Conclusion: The findings may offer effective genetic counselling and minimise disease penetration in consanguineous families. Key Words: PDE6a mutations, Retinitis pigmentosa, Pakistan, ARMS assay.

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