Premarital Genetic Counseling Research Articles

Knowledge and attitude of the Saudi population toward the National Premarital Screening and Genetic Counseling Program

Knowledge and attitude of the Saudi population toward the National Premarital Screening and Genetic Counseling Program

Quantifying the Levels of Knowledge, Attitude, and Practice Associated with Sickle Cell Disease and Premarital Genetic Counseling in 350 Saudi Adults.

Our study aims to observe the levels of knowledge, attitude, and practice (KAP) associated with sickle cell disease (SCD) and premarital genetic counseling (PMGC) in 351 Saudi adults. The relationships between KAP levels and sociodemographic characteristics (age, gender, marital status, and educational level) were observed. The study was conducted in King Khalid University Hospital between February 21, 2017, and March 7, 2018. A total of 351 Saudi participants attending the primary care clinic were selected using convenience sampling and were given a self-administered questionnaire. Overall, the 351 participants had the best attitude (41% scoring “good”), followed by knowledge (28.8%), and, lastly, practice (19.1%). Out of the sociodemographic characteristics, age group was the most statistically significant in all the three categories (knowledge, attitude, and practice). The > 50-year age group performed the worst in all the three categories. Despite the advancements in public healthcare measures in Saudi Arabia, our study revealed that there are still many gaps to be filled regarding the knowledge, attitude, and practice associated with SCD and PMGC.

Prevalence of sickle cell disease among children attending plateau specialist hospital, Jos, Nigeria

Background: An estimate of 250,000 children are born annually with sickle cell disease (SCD) worldwide and 75%–85% of the affected children are born in Africa; where mortality rates for those under age 5 years range from 50% to 80%. Objective: The present study was conducted to estimate the prevalence of SCD among children in Plateau State Specialist Hospital (PSSH), Jos, Nigeria. Methodology: Ethical approval was obtained from the Health Research Ethics Committee of the Hospital. Secondary data on age, gender, and region from the case notes of infants, children and/or adolescents; who received medical care in PSSH from 2012 to 2014 were used. Data were analyzed using frequency tables and Chi-square statistics. Results: The findings revealed that the prevalence of SCD in PSSH, Jos from 2012 to 2014 was 26.9/1000 population of pediatric patients. There was a gradual increase in the prevalence rate from 25.8/1000 in 2012 to 26.8/1000 in 2013 and 28.1/1000 in 2014. However, the case fatality rate of SCD gradually decreased from 15.4% in 2012 to 11.1% in 2013 and 10.3% in 2014. Chi-square test shows that the prevalence of the disease in relation to sex, age, and residence was not statistically significant (P > 0.05). Even though the case fatality rate of the disease decreased, its prevalence increased during the study. Conclusion: Therefore, preventive measure for SCD such as premarital genetic screening and counseling should be emphasized, especially in the southern and central geopolitical zones of Plateau state, where the prevalence was found to be higher.

Study of association of family history and consanguinity with congenital hearing loss

<p class="abstract"><strong><span lang="EN-US">Background: </span></strong>Knowledge about the association of family history and consanguinity with congenital hearing loss is vital in order to prevent occurrence of such morbidity in future generations. The aim of the study was to find the strength of association between family history and consanguinity and congenital hearing loss.</p><p class="abstract"><strong><span lang="EN-US">Methods: </span></strong>A case control study was done using 50 congenitally deaf children and 50 children with normal hearing. A detailed history was taken from the parents with regard to family history of hearing loss and consanguinity.</p><p class="abstract"><strong><span lang="EN-US">Results: </span></strong>In the case group, 28% children had a family history of hearing loss and in the control group; none had a family history of hearing loss. In the case group, 48% of the children had parents with consanguinity. In the control group, 28% of the children had parents with consanguinity.</p><p class="abstract"><strong><span lang="EN-US">Conclusions: </span></strong>Family history and consanguinity play significant role in children having congenital hearing loss. Hence, avoidance of consanguineous marriages and pre-marital genetic counselling can prevent congenital hearing loss.</p>

Exclusion of chromosomal abnormalities and microdeletions 22q11 and 10p13 in algerian patients with isolated conotruncal malformation

The chromosomal abnormalities of number and structure or the 22q11.2 and 10p13-14 microdeletions are considered the main causes of congenital heart disease. In our best knowledge, cytogenetics studies on congenital heart diseases (CHD) have not been performed in Algeria. In this study, we will screen for chromosomal abnormalities and microdeletions of 22q11.2 and 10p13 in a cohort of Algerian patients. G-banded by trypsin Giemsa (GTG) and Fluorescent In Situ Hybridization (FISH) techniques have been performed to screen for chromosomal abnormalities and a critical regions 22q11.2 and 10p13-14 respectively in seventy patients with non syndromic congenital heart. GTG technique visualized no chromosomal abnormalities of number and structure in our patients. Moreover, FISH visualizing critical regions 22q11.2 and 10p13-14 respectively did not detect any microdeletion in the chromosomes 10 and 22 respectively of our patients. Our study could suggest that congenital heart defects observed in Algerian patients are not due to chromosomal abnormalities of number and structure nor the 22q11.2 and 10p13-14 microdeletions. For the fist time, we report here cytogenetics analysis of chromosomal abnormalities and the 22q11.2 and 10p13-14 microdeletions in Algerian patients with congenital heart disease. Genetic testing for screening for deletion 22q11.2 and 10p13-14 is not indicated in all patients with isolated conotruncal defects. In addition, conotruncal heart diseases have a multifactorial background like consanguinity and recessive mutations in some genes involved in cardiac morphogenesis. A genetic study to screen for the role of consanguineous marriages and some genes linked to CHD in Algerian population is on going. This study will focus also on health education for the families at risk about the importance of pre-marital genetic counseling.

A long-term follow up of premarital counseling in the Israeli Arab population.

A follow up study of 168 Arab counselees that received premarital genetic counseling between 2001 and 2009, mostly since they planned to marry with a relative, was performed in 2013. Among the 156 cases in which the counselee married, 30 changed their marital plans (19.2%). Those who changed their marital plans were more often Muslim Arabs that came for counseling since they were related in particular first cousins. Among the 126 counselee that married as planned, 66 were interviewed. From these interviews, it appears that many of the counselees that were related as first cousins or closer came to premarital genetic counseling in order to decide whether to marry. Most of the couples interviewed followed the recommendations concerning the use of folic acid and genetic tests. Among the 53 consanguineous couples interviewed, 49 women had 118 children. Among these 118 children, 8 (6.8%) were born with a severe disease in 8 different families. This rate of malformations/genetic diseases is similar to the one observed for consanguineous couples from the general Arab population in the region, suggesting therefore that the premarital counseling and the adherence to the recommendations did not change the final risk to the counselees.

α-Globin Gene Mutations in Isfahan Province, Iran

α-Thalassemia (α-thal) encompasses a spectrum of mutations including deletion and point mutations on the α-globin chains that is characterized by a reduction or complete absence of α-globin genes. Most of the α-thal cases are deletions involving one (α+) or both (α0) α-globin genes, although point mutations (αTα or ααT) are found as well. In this study, 314 individuals with low hematological values, normal Hb A2 who were not affected with β-thal or iron deficiency, were investigated for the presence of α-thal mutations. The most common deletion was −α3.7 (rightward) with a frequency of 70.7%, followed by α−5 nt (–TGAGG) (8.7%), −α4.2 (leftward) (4.7%), the polyadenylation signal (polyA2) site (AATAAA > AATGAA) (4.2%), −(α)20.5 (3.8%), Hb Constant Spring [Hb CS, α142, Stop→Gln; HBA2: c.427T > C] (2.9%), polyA1 (AATAAA > AATAAG) and αcodon 19 (GCG > GC–, α2) (16%), and – –MED (0.9%). The results of this study may be valuable for designing a plan for carrier screening, premarital genetic counseling, prenatal diagnosis (PND) and reducing excessive health care costs to an affordable level in Isfahan Province, Iran.

Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait

BackgroundRare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan disorder, which combines nephronophthisis with retinal dystrophy, leading to blindness and eventually end stage renal failure. This disorder has been reported in many cases worldwide, including two unrelated families from Arabian Gulf countries, which share the gene pool with Kuwait. Case reportHere, we are reporting two children from an Arab family with a novel frameshift mutation found in IQCB1/NPHP5 gene; c.1241-1242delTC, predicted to cause protein termination p.Leu414HisfsStop4, and describing the associated clinical features. ConclusionIdentification of this pathogenic mutation helped in confirmation of the clinical diagnosis and in providing a proper pre-marital genetic counselling and testing for a couple embarking on marriage from this highly consanguineous high-risk family.

Diagnosis and Treatment Consideration in Thalassemia

Thalassemia has a spectrum of varied manifestations and complications. Survival is associated with various multisystem complications primarily caused by chronic anemia, iron over­ load, adverse effects of chelation and transfusion asso ciated infections. Thus, a disease that starts merely as hemo lytic ane mia attains the dimension of a chronic disease with multi­ system involvement. The importance of thalassemia is masked by infections and nutritional deficiencies. Preventive strategies need to be developed, e.g. premarital screening, genetic counseling and antenatal diagnosis. Apart from early diagnosis, there is a need to increase the therapeutic facilities like blood transfusions, chelation therapy and bone marrow transplant. It is really a great challenge and needs an organized plan of action. This article reports the diagnosis and treatment consideration of a thalassemia patient.

Impact of Consanguinity on Health in a Highly Endogamous Population in District Buner, Khyber Pakhtunkhwa, Pakistan

Impact of Consanguinity on Health in a Highly Endogamous Population in District Buner, Khyber Pakhtunkhwa, Pakistan Objective: Consanguineous unions are a deeply rooted social practice among traditional societies in Pakistan. Despite their presumed social advantages, they can result in several genetic disorders. The present study was designed to study the epidemiological trends of consanguineous marriages in district Buner, KPK, Pakistan. Method: A survey from March to September, 2014, was conducted at twelve sampling areas in Tehsil Gaggra of district Buner, Khyber Pakhtunkhwa (KPK), Pakistan. Results: The couples (n=70) participated were 1st cousin (84.3%) and 2nd cousin (15.7%). The minimum age of the couples at the time of marriage was 16 and maximum 30 years, however, maximum marriages were observed at the age of 18year. The offspring were thoroughly observed for the health complications like anemia (28.6%,), obesity (17.1 %), blood pressure (18.6%), diabetes (18.6%), asthma (10%) and respiratory disease (7.1%) respectively. The percentage of malformation found in the live children of consanguineous married couples were mental retardation (28.7%), deafness and speech disorder (23.3%), anemia (14.7%), syndrome (15.5%), dwarfism (3.9%), blindness (8.5%) and skin diseases (5.4%). Among the surveyed areas, Chagharzi has the highest (41.3%) trend of cousin marriages followed by Shalbandi (17.1%) and Bajkata (12.9%). Additionally, the health conditions of the parents (couples) were also observed for the possible health concerns, which were obese (21.4%) and weak (42.8%) while 35.7% were normal. Conclusions: Cousin-marriages are a norm in the population of district Buner. Its effects on inherited disorders deserve comprehensive genetic, education, and premarital genetic counseling programs for awareness and education

Consanguineous marriages profile in the Tanger-Tetouan region in Morocco

Consanguineous marriage has received a great deal of attention as a potential risk factor for many adverse health outcomes. More than a billion people in the world live in regions where 20%-50% of marriages are consanguineous. The aim of this study is to determine the frequency and types of consanguineous marriage in the region of Tanger-Tetouan in Northwest Morocco. Methods: A prospective study was conducted among a randomly selected sample of 160 university students in Tanger in 2014. All students were interviewed using a structured questionnaire. Results: The frequency of consanguineous marriages among parents of students was 39,4%, with a mean inbreeding coefficient (up to second cousins) of 0,02033. The study revealed a highly significant difference in the rates of the consanguineous marriages between the current and previous generation p< 0,001. The most common types of consanguineous marriage among current generationwere first cousin marriage, which accounts for 76,2% of all consanguineous unions, followed by first cousin once removed (11,1%) and second cousin marriage (3,2%), while 9,5% of marriages were between distant relatives. Among the previous generation, more than half of consanguineous marriages were between first cousins, whereas more the 40 % of unions were of distant relatives. The distribution of the marriages between first cousins through the generations showed that the frequency of unions between parallel cousins was superior than that of the unions between crossed cousins. It was 60, 42 % against 39, 58 % respectively to the current generation. Among the parallel first cousins, the marriage with the daughter of brother of the father was the most answered that with the daughter of sister of mother to both studied generations. The rate was 68, 97 % against 31, 03 % to the generation of the parents, then, it was 85, 71 % against 14, 29 % and 83, 33 % against 5, 88% to the generation of the paternal and maternal parents, respectively. Conclusion: Consanguineous marriage plays an important role in expression of deleterious recessive genes. Public awareness of genetic risks associated with consanguineous marriage and the importance of premarital genetic counseling is indispensable.

RE: Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

RE: Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

Survey of the Knowledge of and Attitude of University of Portharcourt (Nigeria) Undergraduates Towards Premarital Genetic Counselling in Relation to Sickle Cell Anaemia

Survey of the Knowledge of and Attitude of University of Portharcourt (Nigeria) Undergraduates Towards Premarital Genetic Counselling in Relation to Sickle Cell Anaemia

Parental Attitude to Children with Sickle Cell Disease in Selected Health Facilities in Irepodun Local Government, Kwara State, Nigeria

The study investigated parental attitude towards children with sickle cell disease in selected health facilities in Irepodun Local Government, Kwara State, Nigeria. 80 participants were purposively selected for the study. A self-reporting questionnaire was used to collect the needed information from the parents of children with sickle cell disease. Simple percentage and Chi-square were used to analyze the data. Findings from the study showed that about 87% of the participants regretted having such children and gave reasons such as lack of enlightenment programme on sickle cell anemia, no genetic counseling, ill-disposition to pre-marital genotypic screening, inadequate medical facilities for adequate test for genotype in rural areas, gross misrepresentation and wrong perception of sickle cell disease, lack of knowledge of people on sickle cell disease and nonchalant attitude to the result of screening due to love and interest in one's partners. It is therefore recommended that adequate mobilization of educative programmes on importance of pre-marital genetic counseling should be done, facilities should be provided for genotype screening freely for the members of the society, it should be made compulsory for all intending couples and where incompatibility exists, they should not be allowed to marry. The government should legislate in this area by not allowing marriages between non-compatible individuals and should provide free health service for sickle cell patients while their drugs should be made available in the clinics/hospitals.

Awareness of premarital genetic counselling in women in Nigeria Nigeria

Preventive measures such as carrier screening and premarital counselling are the best ways of dealing with genetic disorders. This study assessed the awareness of premarital genetic counselling among female undergraduates in Ibadan, Oyo State, Nigeria. The study consisted of 240 randomly selected and consenting female undergraduates of the University of Ibadan. The instrument was a structured 31-item questionnaire covering social demographic data as well as the objectives of the study. Data were analysed using the Statistical Package for Social Sciences software. The mean age of respondents was 23.3 years old. They had low level of awareness of premarital genetic counselling (68.3%). Only 23% were aware of genetic disorders and 77% were not. About 63% of the respondents claimed that awareness of genetic disorders and premarital genetic counselling would influence their choice of spouse. The study concludes that genetic information is poor and this will influence the uptake of genetic counselling. Efforts should be directed at ensuring mass literacy on the importance of genetic counselling especially among young people.

Knowledge of sickle cell disease and haemoglobin electrophoresis: A survey of students of a tertiary institution

Sickle Cell Disease (SCD) is the commonest genetic disease worldwide. Of the sickle cell control strategies, premarital genetic counselling is increasingly practised in many countries of the world. Knowledge of the citizenry of a nation about SCD constitutes an important variable that influences the acceptability, practice and success of premarital genetic counselling. A study of students of Benue State University, Makurdi was carried out to determine their current level of knowledge. A cross sectional study involving 300 students of Benue State University, Makurdi; selected by a multistage stratified sampling technique, using self administered structured questionnaire, was carried out. Virtually all study respondents had at one time or the other heard about sickle cell disease. Based on the criteria used for knowledge scoring, less than half of the students (48%) demonstrated good knowledge. Overall Mean Score Knowledge (MSK) was 4.65 +/- 1.65. MSK was 4.58 +/- 1.66 and 4.74 +/- 1.64 for males and females respectively; there was no statistically significant difference (P > 0.05). However, having an affected relative suffering from sickle cell disease significantly influenced level of knowledge among study respondents (P < 0.05), but was not significantly associated with respondents knowing their haemoglobin phenotype. Only 141 students (47%) knew their haemoglobin phenotype. Level of knowledge about SCD did not significantly increase with age. Also, sex and religion did not significantly influence level of knowledge. The knowledge about SCD was poor and only a few knew their haemoglobin phenotype. If sickle cell disease control strategies must yield any significant results, more education about SCD, especially among students in tertiary institutions in Nigeria is recommended. The use of persons with SCD as peer educators/counsellors should be explored.

Awareness of Premarital Genetic Counselling among Youth Corpers in South-West Nigeria.

AIM: This study aimed at determining the awareness of premarital genetic counselling among youth corpers in Owo, South West Nigeria. METHOD: The study was conducted between January and March,2009 among youth corpers in Owo. One hundred and sixteen out of the two hundred and fifty youth corpers in the community were selected by simple random sampling. The respondents were interviewed with the aid of self administered questionnaire by the authors. The information obtained from the respondents included their bio-data, awareness of premarital genetic counselling as well as their views on legalizing it. The data obtained was analyzed with SPSS 15.0.1 statistical software version. RESULTS: Most respondents, 105 (90.5%) were aware of premarital genetic counselling. Majority of them were informed by health workers 41 (39%). Most respondents, 95 (81.9%) were in support of legalizing premarital genetic counselling. CONCLUSION: Most respondents were aware of premarital genetic counselling. The media should play a more prominent role in enlightening the populace.

Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India

To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India.

Is There a Significant Trend in Prevalence of Consanguineous Marriage in Tehran? A Review of Three Generations

Consanguineous marriage is a common practice in Iran. The present study surveyed the trend in consanguineous marriage across three generations of Iranians. Index cases, consisting of 400 individuals attending the diabetes and osteoporosis clinic in Shariati Hospital, were interviewed. Data on consanguinity status for 1789 marriages within the index cases' families were obtained. Generation 1 consisted of marriages contracted before 1948, Generation 2 consisted of marriages contracted between 1949 and 1978, and Generation 3 consisted of marriages contracted after 1979. Prevalence of consanguineous marriage within these three generations was 8.8%, 16.6% and 19%, respectively, and represented a significant trend (p < 0.001). First cousin marriage was the most common type of consanguinity (69%). Socioeconomic level of families was not significantly related to having a consanguineous marriage. These data suggest that premarital genetic counseling and mass media efforts are needed to increase public awareness about genetic risks associated with consanguineous marriage.

Results of the National Program for Prevention of β-Thalassemia Major in the Iranian Province of Mazandaran

Prevention programs are considered to be a top priority in Iran because β-thalassemia (β-thal) major (TM) is the most common autosomal disorder in Iran, and in the Mazandaran Province in particular. The main strategies comprise providing appropriate information for the public and professionals, screening and counseling of families at-risk and screening of general population prior to marriage. Providing laboratories for prenatal diagnosis was the most recent step in the program. We report the results of our prevention campaign for the period 1993–2006 in order to assess the effectiveness of all actions in controlling thalassemia major. In 1993, 500 TM patients were registered at the clinic of the Boo Ali Sina Hospital, Sari, Mazandaran, Iran. From 1993 to 1996, on average of 50 new cases were added to the cohort annually, whereas from 1995 to 2005 the number of new cases declined to 35 per year. Furthermore, the patients' average age increased. Overall, 51% of couples at-risk, who received genetic counseling, decided not to marry. All at-risk couples who are married were counseled for prevention of unplanned pregnancies. Currently, 64% are using safe contraceptive methods of family planning, and 14% are no longer at-risk for further pregnancies, the rest remained at-risk for unplanned pregnancies. In conclusion, at the relatively low cost of premarital screening and genetic counseling, we have offered at-risk couples the possibility of preventing the birth of at least 600 undesired TM patients. Thus, a great deal of suffering and an unbearable financial burden has been prevented to patients and their families.