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Effect of consanguinity on congenital defects.

INTRODUCTION: India is composed of thousands of subpopulations divided by geography, language, religion and caste. (1) Consanguineous marriage is widely practiced here with reasons given are geographic, settling economic or inheritance problems, prospective mates knowing each other well, he (or she) is the only possible mate. (2) Consanguinity means" blood relation", derived from the Latin word" consanguinitas". A consanguineous marriage is defined as a union contracted between persons / couple biologically related as second cousins or closer, equivalent to coefficient of inbreeding in the progeny of r [greater than or equal to]0.0156. Globally, the most common form of consanguineous union contracted is between first cousins. (3)

The highest rates of consanguineous marriage occur in north and sub-Saharan Africa, the Middle East, and west, central, and south Asia. (4) From a genetic perspective, consanguineous marriage increases the chances that both members of the union will carry recessive variants passed through the family, which increases the chance that their offspring will be affected by a recessive disease. (5)

Various defects show significant effect of consanguinity like Club foot, Polydactyly, syndactyly, Oligodactyly, Dysplasia of acetabulum, Atresia ani, Harelip with or without cleft palate, Simple cleft palate, Anencephalus, Anophthalmus and microphthalmus, Hydrocephalus. (6)

MATERIALS AND METHODS: The present study is retrospective in nature and conducted in Government medical college and hospital in western Maharashtra. Before starting the study prior permission of the Professor and Head of department of Anatomy, Obstetric and Gynaecology and Paediatric faculties of college mentioned above was taken. Approval of ethical committee was acquired before starting the study.

182 new births with congenital defect of any system of human body born in or referred to the above hospitals including stillbirths and abortions during the period between 1st October 2011 till 31st may 2012 were included in the study.

At the time of birth or referral whatever was the outcome of conception i.e. abortion, intrauterine death, live birth, neonatal death, stillbirth with any congenital malformation was termed as Proband. (7)

Before taking the history, Informed consent of proband's parents was taken using the consent form and the information was kept confidential.

Patient's history was recorded using the proforma / questionnaire especially designed for the study in Marathi and English by meeting the parents of proband in person. The proband of which the history was insufficient and in which the follow up of their parents could not be done were removed from the study.

The proforma/questionnaire for history taking included detailed information regarding type of congenital defect and associated defects, subtype of defect, history of consanguineous relationship between the parents and degree of consanguinity. Pedigree charts were prepared in all the cases.

The cases were classified depending upon the type and subtype of the congenital defect. Proband's were also divided based on all the variables mentioned earlier.

Degree of Consanguineous marriage was categorized into First degree i.e between first degree relatives i.e, between father and daughter, mother and son, between siblings; Second degree i.e between Second degree relatives like uncle -niece, nephew- aunt, half sibling; Third degree between third degree relatives like first cousins, half uncles and half niece, half aunt and half nephew. (8)

Data obtained in respect with all the variables was tabulated and shown by using Bardiagrams and Pie chart.

Comparison of the occurrence of congenital defect was done with presence of consanguineous relationship in parents, degree of consanguinity of parents. The findings were then statistically analysed using Pearson chi-square test and" p value" determined. Statistical significance of that finding was mentioned below each table.

The findings were then discussed with other comparable studies done previously by authors within or outside India and final conclusions were drawn from the present study.

OBSERVATIONS AND RESULTS: It was found that during the period between 1st October 2011 and 31st May 2012, total deliveries taking place in Government medical college and both civil hospitals were 10,114 including (Normal and caesarean section) and total admissions of anomalous births in the NICU were 182 hence incidence of congenital defects calculated was 1.79%.

The total 182 cases studied were classified depending on the system to which they belonged and showed in Table 1.9 It was seen that cardiovascular cases (39 cases) were the most common which was 21.4 % out of the 182 cases.

Table 2 shows that 48 cases of all 182 cases were born to consanguineously married parents which was 26.4 % against 134 cases which were born to non-consanguineously married parents which was 73.6%.

Table 3 shows correlation of degree of consanguinity with Occurrence of congenital defects which shows zero case born to parents having consanguineous marriage of degree one, followed by 21 cases and 27 cases out of total 182 cases born to parents having second and third degree of consanguineous marriage respectively.

Third degree cases/first cousin unions were most commonly occurring type of consanguineous marriage.

All the findings were statistically analysed and were found statistically non-significant.

The reason of findings coming statistically insignificant was lower sample size.

Hence there is scope for this study in future

Table 3 shows that Third degree cases / first cousin unions were most commonly occurring type of consanguineous marriage.

DISCUSSION: Births with congenital defects were commonly found to occur among normal births and the incidence calculated was 1.79 % in the present study.

Comparison of type of Congenital Defect (n= 182): In the present study we have classified all the anomalous cases according to the system and found that cardiovascular anomalies were the most common type. For discussion particularly with Z. Mosayebi and A.H. Movahedian (10) study we have included Diaphragmatic hernia in gastrointestinal group which was originally included in musculoskeletal group in present study.

Also urogenital anomalies were grouped along with renal anomalies and labeled as Genitourinary anomalies and Ano-rectal anomalies were included in Gastrointestinal system itself. Hence now present study shows Gastrointestinal cases (44 cases) as the most common type 24.17%, followed by cardiovascular cases (39) the second common which comes to 21.4%.

Z. Mosayebi and A.H. Movahedian (10) in 2007 stated in his study that of all 109 congenital malformations studied, Genitourinary system cases were most commonly occurring 32.1% of all 109 cases, followed by musculoskeletal cases 24 cases in 22% and cardiovascular cases 16 cases in 14.7% shown in table 4.

This finding did not match with finding of present study.

Comparison of Subtype of Congenital Defect:

These finding of Z.Mosayabi (10) study matches with that of present only in musculoskeletal system group.

Comparison of Degree of Consanguinity with Occurrence of Anomalies and Occurrence of Consanguineous Marriages: Z. Mosayebi, A. H. Movahedian (10) in 2007, P. S. Rao, S. G. Inbaraj, (11) in 1980, A. Nath, C Patil, V. A. Naik, (12) in 2004, in their respective studies stated similar findings that majority of consanguineous marriages were between first cousins i.e., third degree relationship between the parents.

Z. Mosayebi, A. H. Movahedian, (10) in 2007 in their study stated that among the consanguineous group, 54(7.0%) births had congenital anomalies, of which 39 cases were in first-cousin marriages and 15 cases were in second cousin or more distant relatives. This finding matches with present study.

P.S. Rao, S.G. Inbaraj, (11) in 1980 stated that in more than 80 % of consanguineous marriages the partners were First cousins or more closely related i.e., third order relationship shown in table 7. This finding matches with that of present study.

A. Nath et al, (12) stated that majority of consanguineous marriages were between First cousins i.e., Third degree relationship in 54.44 %shown in table 8. This finding matches with present study.

Comparison of Occurrence of Congenital Malformation with Presence of Consanguineous Marriages: Z. Mosayebi, A. H. Movahedian, (10) in 2007, William schull (2) in 1958, Naeimeb Tayebi and Katayon Tazdani, (13) in 2010, M L Kulkarni, Mathew Kurian, (14) in 1990, Khalid yunis and Reem SL Rafel, (15) in 2008, Yunis k, Mumtaz G, (16) in 2006, Ranajit Chakraborty and Arvinda Chakraborty, (17) in 1977, Asha Bai P V, John TI, (18) in 1981, AL-Kandari Y Y, Crews D E, (19) in 2011, V. K. Jain et al, (20) in Feb 1993 in their respective studies have stated that congenital malformations were occurring more common in consanguineous marriages than non-consanguineous marriages which matches present study findings.

Table 9 shows that Z. Mosayebi, A. H. Movahedian, (10) in 2007 stated that congenital malformations were 3.5 times more common in consanguineous marriages than consanguineous marriages. The findings match with that of present study.

This table shows distribution of major congenital anomalies by consanguinity and city. William schull, (2) in 1958 stated in his study stated that frequency of infants with major congenital defects increases significantly with increasing level of (inbreeding) consanguineous relationship shown in Table 10.

Hence findings are similar to present study.

Table 11 shows that Naeimeb Tayebi and Katayon Tazdani (13) in 2010 in their study done in 1195 newborns, stated that rate of congenital defect was higher in consanguineous (2.8%) than that in non- consanguineous (0.9%) marriages.

Table 12 shows that M L Kulkarni, Mathew Kurian, (14) in 1990 also stated that congenital anomalies were more common in consanguineous marriages. Their findings match with that of present study.

Khalid yunis, Reem SLRafel, (15) in 2008 stated in their article that most common form of consanguineous union was between first cousins i.e., third degree relationship.

Yunis K and Mumtaz G, (16) in their case-control trial studied 173 newborns having one or more congenital heart disease admitted to the Neonatal Intensive Care Units of participating hospitals during 3-year period from January 1, 2000 to December 31, 2002 and compared them with controls consisting of a random sample of 865 new borns without a congenital heart disease admitted to the NICU during the same period and found that first cousin consanguinity is significantly associated with an increased risk of congenital heart disease.

Infants born to first cousin marriages had a 1.8 times higher risk of having a congenital heart disease diagnosed at birth compared to those born to unrelated parents.

Ranajit Chakraborty and Aravinda Chakravarti, (17) in 1977 in their study stated that the incidence of major congenital defects was significantly higher among the inbred offspring (1.34%) as compared to that among non-inbred ones (0.81%).

Asha Bai P V, John TJ, Subramaniam VR, (18) in 1981 in their study stated that the number of pregnancies and live births were higher in consanguineous than in non -consanguineous unions. Although the intrauterine wastage showed no significant difference between the 2 groups, extrauterine loss of life, especially the death rate of children, was higher in the consanguineous marriages.

The frequency of developmental anomalies was significantly more frequent among the children of consanguineous parents.

Al-Kandari YY and Crews DE, (19) in 2011 studied a total of 9104 married Kuwaiti females aged 15-79 years from different backgrounds at ten primary health care centres from six governorates in Kuwait and Data collected using a questionnaire and analysed with chi-squared tests which indicated that the frequency of congenital disabilities in the offspring of couples from consanguineous marriages was higher than that in the offspring of non-consanguineous marriages. First-cousin marriages have the highest frequency of congenital disabilities compared with other kinds of marriages.

V. K. Jain and P. Nalini (20) in February 1993 in a study undertaken in Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, South India among four hundred children with existing congenital developmental disorders which were studied with regard to their consanguineous parentage and compared with 1,000 randomly selected patients attending the paediatric outpatient department.

There was a significantly higher prevalence of consanguinity in the study group (p < 0.001) and greater frequency in rural areas. The common types of consanguineous marriages were between first cousins (50.6%) and uncle and niece (42.4%).

SUGGESTIONS FOR FUTURE:

1. The observations from references and present study stress the need for communicating the deleterious effects of inbreeding to the public through regular health education.

2. Increasing awareness among the public of the deleterious effects of consanguinity is a simple prevention strategy must be taken into account for genetic counselling.

3. In case of pregnancy with consanguineous parents, recommendations are:

a) Compulsory counselling to estimate the risk of foetal illness and information about possible examination possibilities.

b) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan.

c) An ultrasound scan for malformations at the gestational age of 18-20 weeks.

d) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

CONCLUSIONS:

1. Births with congenital defects were commonly occurring among normal births and the incidence calculated was 1.79 % in the present study.

2. Cardiovascular defects were most common type of defects.

3. Third degree cases/First cousin unions were most commonly occurring type of consanguineous marriage.

4. Congenital defects were occurring more commonly in consanguineous unions than non-consanguineous unions.

DOI: 10.14260/jemds/2015/1083

REFERENCES:

(1.) A. H. Bittles. Endogamy, consanguinity and community genetics. Journal of Genetics, December 2002; vol. 81, issue no. 3, pg. 91-98.

(2.) William. j. Schull. Emperical risks in consanguineous marriages; sex ratio, malformation and viability, AmJ Hum Genet, 1958 September; vol. 10, issue 3, 294-343.

(3.) Consanguinity definition from (internet) available at en.wikipedia.org / wiki/ Consanguinity. H. Bittles and M. L. Black. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci. U S A. 2010 January 26; 107(suppl_1): 1779-1786.

(4.) Bernadette Modell and Aamra Darr. Genetic counselling and customary consanguineous marriage. Nature reviews/ genetics, march 2002; vol. 3, 225- 229.

(5.) Monica Rittler, Rosa Liascovich, Jorge Lopez-Camelo, Eduardo E. Castilla. Parental consanguinity in specific types of congenital anomalies, American Journal of Medical Genetics, 22 July 2001; Vol. 102, Issue 1, pages 36-43.

(6.) Proband (internet) available at en.wikipedia.org/wiki/ Proband.

(7.) Harpar. P. Textbook of Practicle Genetic Counseling. Chapter 9, Special Problems In Genetic Counseling, Edition 4, 124, 125.

(8.) Richard. E. Behrman et al. Nelson textbook of Pediatrics. 17th edition, Jun 2007; published at Philadelphia, PA; Elsevier/Saunders, 2011.

(9.) Z. Mosayebi and A. H. Movahedian. Pattern of congenital malformations in consanguineous versus non-consanguineous marriages in Kashan, Islamic Republic of Iran. Eastern Mediterranean health journal, 2007; vol. 13, No.4, 869-875.

(10.) P. S. Rao, S.G. Inbaraj. Inbreeding effects on fetal growth and development. Journal of medical genetics. 1980; 17, 27-33.

(11.) A. Nath, C. Patil, V. A. Naik. Prevalence of Consanguineous Marriages in a Rural Community and Its Effect on Pregnancy Outcome. Indian Journal of Community Medicine, 2004 Jan- Mar; Vol. 29, No. 1.

(12.) Naeimeh Tayebi, Katayon Yazdani, Nazila Naghshin. The Prevalence of Congenital Malformations and its Correlation with Consanguineous Marriages, Oman Medical Journal 2010 Jan; Volume 25, Issue 1, 37-40.

(13.) M. L. Kulkarni and M Kurian. Consanguinity and its effect on fetal growth and development; a south Indian study. J. med. genet, 1990; 27: 348-352.

(14.) Yunis K, Reem El Rafei, and Ghina Mumtaz. Consanguinity: Perinatal Outcomes and Prevention - A View from the Middle East, Article International Perspectives Feb. 2008; Neoreviews vol. 9. No. 2, 59-64.

(15.) Yunis Khalid, Mumtaz Ghina, Bitar Fadi, Chamseddine Fadi, Kassar May, Rashkidi Joseph, Ghaith Makhoul, Tamim Hala. Consanguineous Marriage and Congenital Heart Defects- A Case-Control Study in the Neonatal Period. American Journal of Medical Genetics Part A (2006) Jul. 15; 140(14); 1524-30.

(16.) Ranajit Chakraborty and Arvinda Chakravarty. On consanguineous marriages and genetic load.human genetics, 1977; vol. 36. Number 1, 47-54.

(17.) Asha Bai P V, John T. J, Subramaniam V.R. Reproductive wastage and developmental disorders in relation to consanguinity in south India. Trop. Gregor. Med 1981 Sep; 33(3), 275-80.

(18.) Al-Kandari YY, Crews DE. The effect of consanguinity on congenital disabilities in the kuwaiti population. Journal of Biosocial Science / Volume 43 / Issue 01 / January 2011; pp 65-73.

(19.) V. K. Jain, P. Nalini, Chandra R, Srinivasan S. Congenital malformations, reproductive wastage and consanguineous mating. Aust. N Z J Obstet Gynaecol. 1993 Feb; 33(1): 33-6.

AUTHORS:

(1.) Sundip Hemant Charmode

PARTICULARS OF CONTRIBUTORS:

(1.) Assistant Professor, Department of Anatomy, ESIC Medical College, Paravoor Road, Parippally, Kollam.

FINANCIAL OR OTHER COMPETING INTERESTS: None

NAME ADDRESS EMAIL ID OF THE CORRESPONDING AUTHOR:

Dr. Sundip Hemant Charmode, ESIC Medical College, Paravoor Road, Parippally, Kollam-691574. E-mail: sundip.charmode@yahoo.com

Date of Submission: 05/05/2015.

Date of Peer Review: 06/05/2015.

Date of Acceptance: 20/05/2015.

Date of Publishing: 26/05/2015.
Table 1: Classification of 182 new born cases according
to system of type of congenital defect

Type of Congenital   No. of cases   Percentage %
defect                out of 182

Cardiovascular            39            21.4
Respiratory               3             1.6
Cerebrovascular           14            7.7
Musculoskeletal           23            12.6
Renal                     8             4.4
Urogenital                22            12.1
Anorectal                 14            7.7
Gastrointestinal          24            13.2
(Combination of           35            19.2
  anomalies) mixed
Total                    182           100.0

Table 2: Comparison of Consanguinity and
occurrence of congenital defect

Presence of     No. of cases   Percentage %
Consanguinity

Yes                  48            26.4
No                  134            73.6
Total               182           100.0

Table 3: Degree of Consanguinity and congenital
defect

Degree of            Total No.   Percentage %
Consanguinity        of cases

Degree one               0            0
Degree two              21           11.5
Degree three            27           14.8
Non consanguineous      134          73.6
Total                   182         100.0

Table 4: Shows comparison of present study findings with
Z. Mosayabi (10) study

Sl.     Type of Congenital     No. of cases    % Z. Mosayebi (10)
No.           defect            n = 109 Z.           study
                               Mosayebi (10)
                                   study

1         Genitourinary             35               32.1
2        Musculoskeletal            24               22.0
3         Cardiovascular            16               14.7
4        Gastrointestinal            7                6.4
5     Central nervous system         6                5.5
6      Eye and ear defects           5                4.6
7      Chromosomal defects           2                1.8
8       Cutaneous defects            1                0.9
9        Multiple defects           13               12.0
              Total                 109               100

Sl.     Type of Congenital      No. of cases    % Present
No.           defect           n=182, Present     study
                                   study

1         Genitourinary              30           16.4
2        Musculoskeletal             23           12.6
3         Cardiovascular             39           21.4
4        Gastrointestinal            44           24.17
5     Central nervous system         14            7.7
6      Eye and ear defects           0              0
7      Chromosomal defects           6            3.29
8       Cutaneous defects            0              0
9        Multiple defects            35           19.2
              Total                 182            100

Table 5: Shows comparison of present study findings with
Z. Mosayabi

Sl. No.     Type of congenital     Most common subtype Z.
                  defect            Mosayebi (10) study

1             Genitourinary          Undescended testes
2            Musculoskeletal        Metatarsus adductus
                                       (limb defects)
3             Cardiovascular                VSD
4            Gastrointestinal         Cleft lip/palate
5         Central nervous system        Anencephaly
6              Eye and ear         Periauricular skin tag
7                Multiple              Not specified

Sl. No.     Type of congenital       No. of cases Z.
                  defect           Mosayebi (10) study

1             Genitourinary                17
2            Musculoskeletal                6

3             Cardiovascular                5
4            Gastrointestinal               3
5         Central nervous system            2
6              Eye and ear                  3
7                Multiple             Not specified

Sl. No.     Type of congenital     % Out of 109 cases Z.
                  defect            Mosayebi (10) study

1             Genitourinary                 15.0
2            Musculoskeletal                5.5

3             Cardiovascular                4.7
4            Gastrointestinal               2.8
5         Central nervous system            1.9
6              Eye and ear                  2.8
7                Multiple              Not specified

Sl. No.     Type of congenital     Most common subtype
                  defect              Present study

1             Genitourinary            Hypospadias
2            Musculoskeletal          Limb defects

3             Cardiovascular               ASD
4            Gastrointestinal         Anal atresia
5         Central nervous system      Hydrocephaly
6              Eye and ear                None
7                Multiple             Not specified

Sl. No.     Type of congenital     No. of cases    % Out of 182 cases
                  defect           Present study     Present study

1             Genitourinary              7                3.84
2            Musculoskeletal             8                4.39

3             Cardiovascular            18                9.89
4            Gastrointestinal            9                4.94
5         Central nervous system         6                3.29
6              Eye and ear             None               None
7                Multiple          Not specified     Not specified
                                     10 study

Table 6: Shows comparison of present study findings with Z.
Mosayebi (10) study

Degree of consanguinity       Congenital anomalies in Consanguineous
and no of cases in each      marriages(n=768) n= 54, Z. Mosayebi (10)
category. Z. Mosayebi (10)                    study
study

                             Major    %    Minor    %    Total    %

First degree(n = 0)            0      0      0      0      0      0
Second degree /               11     3.8     4     1.4    15     5.2
  uncle-niece (n=291)
Third degree/ first           29     6.1    10     2.1    39     8.2
  cousins (n = 477)
Total = 768                   40     5.2    14     1.8    54      7

Degree of consanguinity           Out of total 182
and no of cases in each        anomalous cases, Total
category. Z. Mosayebi (10)   consanguineous cases = 48.
study                              Present study

                                    No. of cases

First degree(n = 0)                      0
Second degree /                          21
  uncle-niece (n=291)
Third degree/ first                      27
  cousins (n = 477)
Total = 768                              48

Table 7: Shows comparison of present study findings with
P.S. Rao, S.G. Inbaraj (11) study

Degree of consanguinity     Rural, P. S. S.     Urban, P. S. S.
P. S. S. Rao (11) study     Rao (11) study      Rao (11) study

                          No. of cases    %       No.      %

Non-consanguineous            6169       53.1    6378    70.9
Consanguineous                5459       46.9    2620    29.1
First degree                   0          0       0       0
Second degree / uncle         1841       15.8    589     6.6
  niece and aunt nephew
Third degree/ first           2886       24.8    1573    17.5
  cousins
Fourth degree /First          393        3.4     265     3.0
  cousins once removed
Fifth degree/ second          269        2.3     143     1.6
  cousins
Beyond second cousins          70        0.6      50     0.5

Degree of consanguinity   Consanguinity   Percentage
P. S. S. Rao (11) study   Present study   100% out of
                                           total 182
                                             cases

                          No. of cases         %

Non-consanguineous             134           73.6
Consanguineous                 48            26.3
First degree                    0              0
Second degree / uncle          21            11.5
  niece and aunt nephew
Third degree/ first            27            14.8
  cousins
Fourth degree /First            0              0
  cousins once removed
Fifth degree/ second            0              0
  cousins
Beyond second cousins           0              0

Table 8: Shows comparison of present study findings with
A. Nath et al (12) study

Degree of consanguinity         No. of cases    Percentage %,
                                 A. Nath et      A. Nath et
                                al (12) study   al (12) study

First degree                          0               0
Second degree/uncle-niece            61             33.8
Third degree / First cousins         98             54.4
Other distant relations              21             11.6
Total cases                          180             100

Degree of consanguinity         Present study   Present study %
                                No. of cases    Out of 48 cases

First degree                          0                0
Second degree/uncle-niece            21              43.75
Third degree / First cousins         27              56.25
Other distant relations               0                0
Total cases                          48               100

Table 9: Shows comparison of present study findings with Z.
Mosayebi (10) study

Prevalence of congenital malformation among 3529 neonates from
consanguineous and non-consanguineous marriages. (Z. Mosayebi,
A. H. Movahedian (10) study)

Congenital          Consanguineous marriage n = 768
malformation
                           Second
                          cousin or              Nonconsan
                First      distant               -guineous
                cousin    relative    Total,     marriage
               (n=477)    (n=291)     n = 768    (n= 2761)

               No    %    No    %     No    %     No   %

Major          29   6.1   11   3.8    40   5.2    23   0.8
Minor          10   2.1   4    1.4    14   1.8    32   1.2
Total          39   8.2   15   5.2    54   7.0    55   2.0

Table 10: Shows comparison of present study findings with W.
Schul (l2) study

City William            Degree of consanguineous relationship among
schull (2) study                parents W. Schull (2) study

                       Degree one,    Degree second,   First cousins
                      no. of cases.    no. of cases    /degree three,
                                                        No. of cases

Hiroshima                   0               0               936
Kure                        0               0               318
Nagasaki                    0               0               1592
Total                       0               0               2846
Present study               0               21               27
  Consanguineous
  n=48
Present study              --               --               --
  Nonconsanguineous
  n=134

City William               Degree of consanguineous
schull (2) study          relationship among parents
                             W. Schull (2) study

                      1 1/2 cousins/   Second cousins/
                       degree four      fifth degree
                       no. of cases     No. of cases

Hiroshima                  313               384
Kure                       113               140
Nagasaki                   412               637
Total                      838              1161
Present study               0                 0
  Consanguineous
  n=48
Present study               --               --
  Nonconsanguineous         --               --
  n=134

City William          Degree of consanguineous   Total
schull (2) study         relationship among
                       parents W. Schull (2)
                               study

                          Unrelated / non
                         -consansanguinity
                            No. of cases

Hiroshima                      26,012            27645
Kure                            7544             8115
Nagasaki                       30240             32881
Total                          63796             68641
Present study                    0                48
  Consanguineous
  n=48
Present study                   134               134
  Nonconsanguineous
  n=134

Table 11: Shows comparison of present study findings with
Naeimeh Tayebi (13) study

Total no of congenital        Total cases studied in Naeimeh
defects in Naeimeh            Tayebi (13) study, n=1195(100 %)
Tayebi (13) study.
N=45(3.76%)                             Cases from
                                      consanguineous
                                         marriages
                                         n=300(25%)

                           No. of anomalies    % of total births

Total, n=45, 3.76%.               34                  2.8
  Naeimeh T ayebi study.    Consanguineous             %
                           cases, in present
                                 study
Total anomalies studied           48                 26.4
  in present study,
  n=182, 100 %

Total no of congenital         Total cases studied in Naeimeh
defects in Naeimeh             Tayebi (13) study, n=1195 (100%)
Tayebi (13) study.
N=45(3.76%)                    Cases from non-consanguineous
                                   marriages n= 895(75%)

                            No. of anomalies    % of total births

Total, n=45, 3.76%.                11                 0.9%
  Naeimeh T ayebi study.   Non-consanguineous           %
                           cases, in present
                                 study
Total anomalies studied           134                 74.6
  in present study,
  n=182, 100 %

Table 12: Shows comparison of present study findings with
Kulkarni M. L, Mathew Khurian (14) study

Total no. of malformations    Total no. of live and still
found in 3700 births,          births studied, n = 3700
n=146, Kulkarni M. L,        (100%) Kulkarni M. L, Mathew
Mathew Khurian1 (4) study           Khurian (14) study

                                   Kulkarni M. L, Mathew
                                    Khurian (14) study
                                  Consanguineous cases,
                                       n=999 (27%)

                             No. of cases   % out of total
                                            anomalies i.e
                                                 146

Total cases = 146, 100%           80            54.79
  Kulkarni M.L, Mathew
  Khurian (15) study
Present study Total               48             26.4
  anomalies studied,
  n=182, 100%

Total no. of malformations     Total no. of live and still
found in 3700 births,           births studied, n = 3700
n=146, Kulkarni M. L,         (100%) Kulkarni M. L, Mathew
Mathew Khurian (14) study           Khurian (14) study

                                  Kulkarni M. L, Mathew
                                   Khurian (14) study
                                  Non-consanguineous
                                 cases, n= 2731(73.81%)

                             No. of cases   % out of total
                                            anomalies i.e
                                                 146

Total cases = 146, 100%           66            45.20
  Kulkarni M.L, Mathew
  Khurian (15) study
Present study Total              134             74.6
  anomalies studied,
  n=182, 100%
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Title Annotation:ORIGINAL ARTICLE
Author:Charmode, Sundip Hemant
Publication:Journal of Evolution of Medical and Dental Sciences
Date:May 28, 2015
Words:4340
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