Study of consanguinity and its relationship with hereditary anomalies in 2,000 births at PIMS, Islamabad

Abstract

A marrillgc is said to be consanguineous when there is a union between two people who arc gcm:lica lly related. In consanguineous marriages. thc chances of a pair or identical unfuvor<Jolc genes meeting arc far grea ter than in un unrelated marriage. Studies has shown that consanguineous marriages arc positively associated with low age at marriage. low educationa l level o f the mother, low occupati ona l status of husband, and rural origin. Offspring as a resu lt of consanguineous marriage arc having an increased risk or hereditary anoma lies, i.e., about 7.9% orthe total births. Due to general lack of knowledge of consanguinity assoc iated morbidity and mortality in the porulations of Northern cities of Pakistan. the present epidemiological siudy was conducted al Pakistan Institute or Medical Sciences. Islamabad. and 2.046 deliveries were recorded. Consanguinity rate was observed to be 5 I .14% among the tota l marriages; the frequencies of distantly related and non related unions were 31.70% and 17.15%, respectively. In tolal, there were 49.9B % first cousin marriages. Distriblltion of neonatal parameter like birth weight, head circumfe rence, APGAR score, body length and other physical parameters were found to be insignificant in rela ti on to parental marriage typc. There were a total of 163 neonates wilh some hereditary anomaly. Major anomalies observed in the neonates were central nervous system (29.40%) and muscu loskeletal malFormations (28 .20%). Fo llowed by anomalies of urogenital (9.2 1 %), cardiovascular (4.29%). syndromic (6.13%), arofacial (9.20%), and digestive system (3.06%).Th is study finds high prevalence of congenital anoma lies in the mllitiethnic region of Rawalpindillslamabad ; it is thererore strongly recommend that genetic counseling services supported by the availability or antenatal/prenatal diagnostic procedures should be developed in all major bospiluls across Pakistan. There is an urgen t m:cd to inform the public properly about the anticipated deleterious errccts of inbreeding in societies where intermarriage is widely practiced.