Chromosomes studies in 100 couples with repeated fetal wastage

Cytogenetic studies performed for 100 couples with a history of two or more early or late pregnancy loss revealed that in 8 couples [8%], one partner was a carrier of a chromosome anomaly. These included four cases of triple X females and four cases of structural aberrations. In addition, the presence of minor polymorphic variants was demonstrated in seven couples. Analysis of the frequencies of chromosome aberrations according to number of fetal wastages, type of fetal wastage and consanguinity revealed comparable results. However, a higher consanguinity rate was observed among couples with mixed reproductive wastage [67%] as compared to couples with only first trimester abortions [42%]

Chromosome studies and genetic counseling in Baghdad one year's experience

A genetic service unit was established in March 1981 in the Yarmouk Teaching Hospital in Baghdad. This preliminary report covers the experience of the unit over a period of one year, during which time 135 successful lymphocyte cultures were performed for standard chromosome analysis and karyotyping. The patients were classified into five groups, based on the indications for chromosome studies, and the groups were then separately studied to determine the percentage of chromosome abnormalities in each and whether or not there were any clinical stigmata strongly suggesting abnormal karyotypes. Abnormal karyotypes were present in 17.8% of the patients: of those with a normal karyotype, 20.8% were diagnosed as having an autosomal recessive or X- linked recessive condition. Twenty four families were referred for genetic counselling: in 17 of these a definite diagnosis was reached [12 autosomal recessive, 2 X-linked and 3 multifactorial conditions]. It seems that a large number of undiagnosed autosomal recessive diseases present to the unit, and this high frequency may be related to the high consanguinity rate in the community. In these cases genetic counselling could be a positive means of reducing the incidence of birth abnormalities