“A STUDY TO ASSESS THE KNOWLEDGE REGARDING CONSANGUINEOUS MARRIAGES AND ITS GENETIC EFFECTS AMONG YOUNG ADULTS WITH A VIEW TO DEVELOP AN INFORMATION GUIDE SHEET AT SELECTED DEGREE COLLEGES IN TUMKUR”.

PROFORMA FOR REGISTRATION OF SUBJECT FOR THE DISSERTATION

SUBMITTED BY

MS. SOUJANYA JAYANANDA PUJAR

OBSTETRICS AND GYNAECOLOGICAL NURSING

SRI SIDDHARTHA COLLEGE OF NURSING

AGALAKOTE, B. H. ROAD

TUMKUR

RAJIV GANDHI UNIVERSITY OF HEALTH SCIENCESBANGALORE, KARNATAKA

PROFORMA FOR REGISTRATION OF SUBJECTS FOR DISSERTATION

1. NAME OF THE CANDIDATE AND ADDRESS

MISS. SOUJANYA JAYANANDA PUJAR

I YEAR M.Sc.NURSINGSRI SIDDHARTHA

COLLEGE OF NURSING,AGALAKOTE,TUMKUR.

2. NAME OF THE INSTITUTION SRI SIDDHARTHA COLLEGE OF NURSING, B.H.ROAD,

TUMKUR

3. COURSE OF THE STUDY AND SUBJECT

DEGREE OF MASTER OF NURSINGOBSTETRIC AND

GYNAECOLOGICAL NURSING

4. DATE OF ADMISSION 15 JUNE 2009

5. TITLE OF THE TOPICA STUDY TO ASSESS THE KNOWLEDGE REGARDING CONSANGUINEOUS MARRIAGES AND ITS GENETIC EFFECTS AMONG YOUNG ADULTS WITH A VIEW TO DEVELOP AN INFORMATION GUIDE SHEET IN SELECTED DEGREE COLLEGES AT TUMKUR.

6. BRIEF RESUME OF THE INTENDED WORK

INTRODUCTION

“It is better to get wisdom than gold, to choose knowledge rather than silver”

Linguistically, consanguinity is a term that is derived from two Latin words

"con" meaning common, or of the same and "sanguineus" meaning blood, hence,

referring to a relationship between two people who share a common ancestor or blood. In

other words, consanguineous marriage refers to unions contracted between biologically-

related individuals.

Although a high proportion of marriages in Asia are consanguineous (i.e.

contracted between close biological relatives), with some notable exceptions, there is a

death of demographic and anthropological literature on the association between

consanguinity and fertility1

The International Conference on Population and Development (ICPD), which

met in Cairo in 1994, and the Fourth International Conference on Women, in Beijing in

1995 endorsed the rights of young people to reproductive health information and

services. Young people face a variety of reproductive health risks . Young people may

know little about reproductive health and may have incorrect or misleading information

about fertility and contraception.2

The incidence of consanguineous marriages is very high in the Pattusali

population. First cousin marriages are preferred mostly. The consanguinity effects

obtained in this population are also mostly confined to these marriages only. The

inbreeding coefficient for the population is 0.02997. The consanguinity on fertility,

mortality and morbidity.2

Consanguineous marriage is customary in many societies, but leads to an increased

birth prevalence of infants with severe recessive disorders. It is therefore often proposed

that consanguineous marriage should be discouraged on medical grounds. However,

several expert groups have pointed out that this proposal is inconsistent with the ethical

principles of genetic counselling, overlooks the social importance of consanguineous

marriage and is ineffective.3

6.1 NEED FOR THE STUDY

Approximately 3-5% of all live newborns have a medically significant birth

defect. The recent report by March of Dimes estimated birth defects to be >69.9/1000 live

births in most Arab countries, as opposed to <52.1/1000 live births in Europe, North

America and Australia. Lower observed rates of 7.92/1000 births and 12.5/1000 births

were registered in the UAE and Kuwait, respectively .In Oman, among 21,988 births,

24.6 per 1000 births had major malformations.3

Obstetric complications like PIH and antepartum haemorrhage were more

among non-consanguineous (8.3% and 0.93%) as compared with consanguineous (7.18%

and 0.55%). However, the difference was not statistically significant5(2.8%) congenital

malformations were observed in consanguineous group and 4 (1.25%) in the

nonconsanguineous group (p>0.05). The congenital malformations were - congenital

cataract (n=2), bifid tongue (n=l), cyanotic heart disease (n=3), cleft palate (n=l),

hydrocephalus (n=2)..Only 7.6% of the women were aware about the hazards of a

consanguineous marriage.

Worldwide, some 1,000 million people live in countries where 20 to more than

50% of marriages are consanguineous, and large migrant communities from these regions

are now resident in Western Europe, North America and Oceania.4

Estimates of "relative risks" and "attributable risks" are presented for two

Brazilian regions with the lowest (F = 0.00030) and the highest (F = 0.00395) inbreeding

levels of the country, and for the whole country (F = 0.00088). The abolition of all

consanguineous marriages (from second cousins up to and including uncle-niece/aunt-

nephew marriages) in Brazil would eliminate only about 0.22, 3.05, and 0.65% of the

"total damage," respectively. "Total damage" is defined as including abortions,

miscarriages, stillbirths, infant-juvenile mortality (up to the age of 20 years), and

anomalies in the survivors. The reduction of prenatal damage would be 0.11, 1.46, and

0.31%, and that of postnatal damage would be 0.49, 6.65, and 1.36%, respectively.5

From the above studies and the outcomes of survey conducted by the researcher

it was felt that there is a need to conduct a study which could increase the knowledge of

young adults regarding consanguineous marriages and their genetics effects.

6.2 REVIEW OF LITERATURE

“Literature review is a critical summary of research on a topic of interest, often prepared

to put a research problem in context or as the basis for an implementation project”

Polit and Hungler

1. Consanguinous marriage are the traditionally favoured in most asian and African

countries specially in muslim countries. A study was conducted regarding youth’s

knowledge ,behavior,and attitude towards consanguineous marriages. The aim of the

study was to determine the frequency of consanguineous marriages in mahhad City,

Khorasan Province,Iran. Direct questionnaire including 50 open and closed questions

were administered to 500 young people who were selected during a quota sampling. The

result of this study revealed that most of the youth did not have favourable information

about the consequences of genetic disorders of inbreeding.6

2. Semi-structured interviews were conducted with 65 Israeli subjects who received

genetic counselling while considering marriage to a close relative, 40 subjects married to

a close relative who did not receive pre-marital genetic counselling, and 125 controls

married to a nonrelative and never having considered marrying a relative. It was found

that 72% of the consanguineous couples who received pre-marital genetic counselling

proceeded with their plans and married their relative; 86% of them reported that the

counselling influenced their final decision to some degree. Compared to the

noncounselled consanguineous group, consanguineous couples who received pre-

marital genetic counselling had fewer children, estimated their genetic risk as lower but

its subjective significance as higher, and perceived genetic disorders as more severe. The

implications of these results are discussed from both theoretical and practical

standpoints.7

3. This study was done to evaluate the level of knowledge among adolescents about the

issues associated with consanguinity, because consanguineous marriages are widely

practiced among Arabs, and are associated with an increased incidence of congenital

malformations. The researcher carried out a national survey among 2933 students aged

15-16 years within the Israeli Arab community. Variables considered were gender,

religion, location of residence, parents' level of education, number of siblings, whether

their parents' marriage was consanguineous, whether any family members had congenital

malformations, and the respondents' religious beliefs and traditions. Association among

those variables and the level of knowledge that were statistically significant by univariate

analysis were also assessed in a multivariate model as a result one-quarter of the students

(24.5%) demonstrated a high level of knowledge, whereas 29.7% had a moderate level

and 45.8% a low level. Overall, 81.5% knew that consanguinity was associated with a

high incidence of congenital malformations, although only half of these (50.0%) knew

what congenital malformations were and which were associated with consanguinity. The

variables significantly associated with a low level of knowledge were gender, level of

parents' education, consanguinity between the students' parents, and extreme religious

attitudes8

4. This study was conducted by interviewing 100 women who had married a relative and

100 other women of the same age, religious affiliation, and socioeconomic status, but

who were not related to their husbands. Both women were selected from a hospital

setting in Beirut, and were questioned about their outlook on consanguineous marriages,

their awareness of the genetic consequences of consanguinity, and their relationships with

in-laws. In general, the women in consanguineous marriages were more favorably

inclined than the matched women to marriages between relatives; however, about half of

each group would advise their son/daughter to marry his/her cousin. Awareness of the

genetic consequences of consanguinity was wide-spread among the respondents, although

the women who had married a relative were reluctant to express it. These women also

reported better relationships with in-laws, which may be considered as a social benefit

derived from consanguineous marriages. Based on the above findings, recommendations

are made regarding the content of a public health educational program.9

5. This cross sectional study was done in Shindoli village of District Belgaum by

interviewing 500 married women residing in the rural field practice area. As a result the

prevalence of consanguinity was found to be 36%. Majority of the marriages were

between first cousins (54.44%). Foetal loss was seen to be significantly higher in the

consanguineous group as compared to non-consanguineous group (p<0.001). No

significant effect of consanguinity was observed on the number of stillbirths, neonatal

mortality, obstetrical complications and congenital malformations. Only 7.6% of the

women were aware about the hazards of a consanguineous marriage.

6. This study was done to assess the risk for birth defects in the offspring of first-cousin

matings has been estimated to increase sharply compared to non consanguineous

marriages.In the population studied in North-Eastern France a consanguineous mating

was known in 1.21% of the cases with congenital anomalies, vs. 0.27% in controls, (p <

0.001). The frequency of the malformations recorded paralleled the degree of

consanguinity: out of 89 malformed children, 51 were seen in first-cousins mating (10.3

times more frequent than in offspring of non consanguineous couples), 17 in second-

cousins marriages and 18 in more distant relatives mating. Three were uncle-niece

marriage. Excluding known mendelian conditions these numbers were 73, 36, 17 and 17

respectively and the corresponding relative risk were 3.68, 3.01, 3.41 and 4.89

respectively. Therefore there is a negative dose-response effect between level of

inbreeding and risk of congenital malformations. Consanguineous mothers were more

often pregnant than non consanguineous mothers (p < 0.01) and they had more stillbirths

than non consanguineous mothers. These results show that consanguinity is still a factor

of birth defects and they must be taken into account for genetic counseling of inbred

marriages, in developed countries. 10

7. This study was done to assess the knowledge and attitudes of Bedouin schoolchildren

and their teachers towards a community-based, premarital carrier-matching program

aimed at reducing the prevalence at birth of genetic diseases. A questionnaire was

presented to 61 teachers and 40 schoolchildren as part of guided interaction in small

groups, conducted in Bedouin schools between 1999 and 2001. As a result susceptibility

as well as knowledge of genetics were found to correlate with a positive attitude towards

the genetics program among both teachers and pupils. However, pupils had a lower

knowledge index as compared to teachers, and their attitudes were slightly less positive.

The difference between teachers and pupils is discussed in the context of the latter's

acculturation, which contradicts tradition and parental authority and can generate

ambivalence. Attitudes are further discussed in the context of the Health Belief Model

and the complex interplay of tradition, Islam, cousin marriage and biomedicine.11

8. A Study was conducted to assess the consanguinity and birth defects in Jerusalem

population. To support ongoing studies of cancer and of psychiatric disease, we studied

relationships of consanguinity to 1,053 major birth defects in 29,815 offspring, born in

1964-1976. To adjust for confounding variables (geographic origin, social class and

hospital), we constructed logistic regression models, using GEE to take into account

correlations between sibs. Odds ratios (ORs) and 95% confidence limits were estimated

in comparison to a reference group of offspring with grandfathers born in different

countries. As a result 10.1% of offspring having consanguineous parents, the adjusted OR

for major birth defect was 1.41 (1.12-1.74). Offspring of marriages between uncles-

nieces, first cousins and more distant relatives showed adjusted ORs of 2.36 (0.98-5.68),

1.59 (1.22-2.07) and 1.20 (0.89-1.59) respectively. For descendents of grandfathers born

in the same country, but not known to be related, the OR was 1.05 (0.91-1.21); these

showed increased risk associated with ancestries in Western Asia. A strong association of

consanguinity with poverty and low education points to the need to avoid exposure to

environmental hazards in this families.12

9. A study was done to define the specific categories of genetic disorders associated with

consanguineous marriages. Etiological categories and consanguinity rates were studied

among 623 families with genetic syndromes, congenital anomalies or mental retardation,

or both, seen at the National Center for Diabetes, Endocrinology and Genetics for the

period August 2002 to August 2006. Comparisons were made for first cousin marriage

rates in the study group and that for the general population. As a result First cousin

marriages constituted 69%, 22% and 41.7% of marriages among families with autosomal

recessive conditions, dominant, X-linked and chromosomal conditions and sporadic

undiagnosed conditions respectively. The differences in rates of first cousin matings

versus non-consanguineous matings were highly significant when comparing known

figures in the general population with group 1 and 3, but not significant with group 2.

Two messages to the public and health care personnel regarding consanguinity can be

derived from this study. The first message is that among genetic disorders, only

autosomal recessive disorders are strongly associated with consanguinity. The second

message is that approximately 30% of sporadic undiagnosed cases of mental retardation,

congenital anomalies and dysmorphism may have an autosomal recessive etiology with

risks of recurrence in future pregnancies.13

6.3 STATEMENT OF THE PROBLEM

“A Study To Assess The Knowledge Regarding Consanguineous Marriages And Its Genetic Effects Among Young Adults With A View To Develop An Information Guide Sheet At Selected Degree Colleges In Tumkur”.

6.4 OBJECTIVES

1) To assess the knowledge regarding the consanguineous marriage and its

genetic effects among young adults.

2) To determine the association between knowledge of young adults with

selected demographic variables.

6.5 OPERATIONAL DEFINITIONS

1) Assess:

It refers to gathering information regarding the

consanguineous marriages and its genetic effects.

2) Knowledge:

It refers to response of young adults to the question stated

in the questionnaire regarding consanguineous marriages and it

genetic effects.

3) Consanguineous marriages:

It refers to relationship between two people who share a common ancestor or blood.

4) Genetic effects:

It refers to any chromosomal disorder which is

transmitting from one generation to other.

5) Young adults:

It refers to group of people both male and female who all are

studying in selected degree colleges at Tumkur,between the age group of

20-25 years.

6) Informational guide sheet:

It refers to giving educational material which is easily

understandable and helps to improve awareness of consanguineous

marriages and its genetic effects.

6.6 ASSUMPTIONS

The study assumes that

1. Consanguineous marriage is more common and it may cause genetic disorders.

2. The young adults may not be aware of genetic effects caused by consanguineous

marriages.

3. Information guide sheet may improve the knowledge regarding consanguineous

marriages and its effects.

6.7 RESEARCH HYPOTHESIS

Hi – There will be significant association between the knowledge on consanguineous

marriages and its effects with the selected demographic variables of young adults.

6.8 DELIMITAIONS.This study is limited to

1. The unmarried young adults both males and females between the age group of 20-25

years.

7. MATERIALS AND METHODS OF THE STUDY

7.1 SOURCE OF DATA Data will be collected from young adults who are studying in selected degree

colleges in Tumkur.

7.1.1 RESEARCH DESIGN Descriptive study design.

7.1.2 VARIABLES OF THE STUDY

i. STUDY VARIABLEKnowledge regarding consanguineous marriages and its effects.

ii. DEMOGRAPHIC VARIABLEAge, sex, education, occupation, religion, economic condition and informational source.

7.1.3 STUDY SETTINGThe study will be conducted at selected degree colleges in Tumkur.

7.1.4 POPULATIONPopulation of the present study will be comprised of young adults studying in selected

degree colleges in Tumkur.

7.2 METHOD OF DATA COLLECTION Data will be collected by direct administration of planned structured questionnaires

regarding consanguineous marriages and its effects.

7.2.1 SAMPLING TECHNIQUESimple random sampling technique is used to select the sample of young adults.

7.2.2 SAMPLE SIZESample size of the study is 100 young adults.

7.2.3 CRITERIA FOR SELECTION OF THE SAMPLE INCLUSION

CRITERIA

INCLUSION CRITERIAa) Young adults between the age of 20-25 years.

b) Young adults both male and female of same age group.

EXCLUSION CRITERIAa) Young adults who are not willing to participate.

b) Young adults who are not able to speak kannada or English language

7.2.4 INSTRUMENTA planned structured questionnaire will be prepared in such a way it consists of two parts.

Part I:

It includes demographic data of the young adults such as age, sex, education, religion and

parental education.

Part II:

It includes assessment of knowledge regarding consanguineous marriages and its effects.

7.2.5 METHOD OF DATA ANALYSIS AND

PRESENTATIONData collected on knowledge regarding consanguineous marriages and its effects will be

analyzed to answer the objective through following statistical techniques.

i) Frequency and percentage analysis used to describe the demographic

characteristics of young adults being studied under research.

ii) Mean standard deviation and mean score percent will be used to assess the

knowledge of young adults regarding consanguineous marriages and its

effects.

iii) Chi-Square test will be used to find out the association between the

knowledge with selected demographic variables.

7.2.6 PILOT STUDY A pilot study will be conducted by selecting 10 young adults to assess the

feasibility of the main study.

7.2.7 PROJECTED OUTCOME Information guide sheet will improve the knowledge of young adults regarding

consanguineous marriages and its effects.

7.2.8 DURATION OF THE STUDY The study plan to conduct with the time duration at about 6-8 weeks.

7.3 DOES THE STUDY REQUIRE ANY INTERVENTIONS TO BE

CONDUCTED ON PATIENTS OR OTHER HUMAN ANIMALSNo, since the study is non experimental type descriptive study, it doesn’t involve any

intervention.

7.4 HAS ETHICAL CLEARANCE BEEN OBTAINED FROM YOUR

INSTITUIONEthical clearance will be obtained from the Institution Ethical Committee (IEC) and the

permission will be obtained from the colleges for data collection.

8. LIST OF REFERENCES.

1. Hussain R.Bittles, A.H. “Assesment of association between consanguinity and fertility

in Asian population”. J Health Popul Nutr. 2004 Mar;22(1):1-12.

2.Y.A.Jaffer, M.Afifi,F.Al.Ajmi and K.Alouhaishi. “knowledge ,attitude and practice of

secondary-school pupils in Oman”.Reproductive Health,June 2008

3.A.Nath, C.Patil, V.A.Naik. “Prevalence of consanguineous marriges in rural

community and its effects on pregnancy out come”. Indian journal of community

medicine,2004; vol 29(1)

4. Freire-Maia.N. “Effects of consanguineous marriages on morbidity and precocious

mortality: genetic counseling.”American Journal of human genetics,vol-9,page ;58-62.

5. Freire-Maia.N. “Genetic effects in Brazilian population due to consanguineous

marriages.”.American Journal of human genetics.vol-16;66-69.

6. Polit and Hungler, “Nursing research principles and method’’. Lippincot Worterr

k.Lower company, 7th edition 2004.

7. M.Hasanzadeh-nazarabadi, G.H.Rezaestalab,F.Dastfan. “Study of youths knowledge,

behavior and attitude towards consanguineous marriages.”Iranian journal of public

health,2006;vol 35(3):page 47-53.

8. Jaber L, Romano.o, Halpern G.J,Shohat.T, “Awareness about problems associated with

consanguineous marriages:survey among Isreli Arab adolescents” . Isrel journal of

medical science, December 2004,vol 32(12): page 1286-9.

9.Shoshana Shiloha, Haike Reznikb, Mariassa Bat-Miriam Katznelson C,B and Bole Slav

Goldmanc. “Premarrital genetic counseling to consanguineous couples: attitudes, beliefs

and decisions among counseled, non counseled and unrelated couples in Isrel”. School of

medicine,March 2000.

10.Avid E. Raz, Marcela Atar, Maya Rodnay, Illana Shohamvardi, Rivka carmi.

“Knowledge of genetics and attitude towards genetic testing in consanguineous Bedovin

community”.Public health genomics,2003;vol 6(2)page367-372

11. Stoll C, Alembik Y, Roth MP, Dott B “Parental consanguinity as a cause for

increased incidence of births defects in a study of 238,942 consecutive births’’.Ann

Genetics,2000.vol 42(3);page 133-9

12.Myrian Khlat, Suzan Halabi, Adele Khudr, Vazken.M, Der Kaloustian. “Perception of

consanguineous marriages and their genetic effects among a sample of couples from

Beirut”.American journal of medical genetics, October 2004.vol25(2);page 299-306

13.S.Amudha, N.Aruna,S.Rajangam. “Consanguinity and chromosomal abnormality,

Division of human genetics”.Saudi medical journal, July 2007,vol 28(7) 1015-17

14. Guz k, Dedeoglu N,Luleci G:The frequency and medical effects of consanguineous

marriages in Antalya, Turkey. Turk Journal of Pediatr. 2001 Oct-Dec; 43(4):277-9.

15.Tadmouri GO, Nair P, Obeid T, A l Ali MT, Al Khaja N, Hamamy H “Consanguinity

and reproductive health among Arabs.’’,Journal of Reproductive health,2009:vol-

6(17),page 15-17.

16.Hamamy HA, Masri AT, Al-Hadidy AM, Ajlouni KM. Consanguinity and genetic

disorders. Profile from Jordan.Department of pediatrics,2006

17.Ziad M. Kanaan, Rami Mahfouz, Hala Tamim “The Prevalence of Consanguineous

Marriages in an Underserved Area in Lebanon and Its Association with Congenital

Anomalies” Genetic Testing. September 2008, 12(3): 367-372..

18.Basil.R.Obeidat. yousef.S. Khadar, Zeuhair.O.Amarian, Mohammad Kassawnels

Mousa alomari. “Comsanguinity and adverse pregnancy outcome”.Maternal and child

health journal,May 2007,vol 15(2).page 44-48.

9. Signature of the candidate :

10. Remark of the Guide :

11. Name of Designation :

11.1. Guide :

11.2. Signature :

11.3. Co-Guide :

11.4. Signature :

11.5. Head of the Department :

11.6. Signature :

12.1. Remark of the chairman :

Or Principal

12.2. Signature :