Parental Decisions Regarding a Prenatally Detected Fetal Chromosomal Abnormality and the Impact of Genetic Counseling: An Analysis of 38 Cases with Aneuploidy in Southeast Turkey

Abstract

This study investigated parental decision-making to terminate or continue a pregnancy after prenatal diagnosis of a chromosomal abnormality among a sample of patients in Southeast Turkey. Between 2004 and 2007, 1068 amniocentesis tests were performed in the Medical Biology and Genetic Department Laboratory at Dicle University. Aneuploidy was found in 38 cases (3.56%). Genetic counseling was provided for the couples that received abnormal results, and they were later interviewed and asked if they had continued or interrupted the pregnancy after the diagnosis. When confronted with autosomal aneuploidy in which a severe prognosis was expected, 85% of cases decided to terminate the pregnancy. When confronted with sex chromosome aneuploidy with a low risk of an abnormal clinical phenotype 60% of cases decided to continue the pregnancy. Among the diagnoses with aneuploidy, pregnancy was continued in 21.1% of cases due to religious beliefs regardless of whether there was a low or severe risk of an abnormal clinical phenotype. These findings indicate that both severity of abnormality and religiosity play an important role in genetic counseling patients' decision-making processes and outcomes in Turkey. In addition, the findings suggest the need for legislation that reduces the differences in approaches between the physicians and institutions regarding parental decision-making to terminate or continue a pregnancy in our country.

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

“…Research by Quadrelli et al, 26 for instance, examined 52 SCA diagnoses in the genetic unit of the Hospital Italiano in Uruguay and reported that women of young maternal age (mean = 32.6 ± 5.2 years) were more likely to terminate their pregnancy compared with those who were older (mean = 36.4 ± 4.4 years). The study conducted by Balkan et al 29 also revealed that women who were of younger maternal age (mean = 32.6 ± 6.7 years) elected to terminate their pregnancies at higher rates than older women (mean = 35.4 ± 5.3 years). Hamamy et al, 8 however, reported in their study that women would be more likely to terminate the pregnancy if their age was 36.8 years (older maternal age).…”

“…Descriptive data: Type of SCA represented the most frequent factor associated with terminating a pregnancy, identified in more than half of the reviewed studies (57.9%). 3,[8][9][10]18,20,22,23,[27][28][29] Two specific types of SCAs, 45,X (Turner syndrome) and 47,XXY (Klinefelter syndrome), in particular, were associated with termination. Nine studies (47.4%) [8][9][10]18,20,23,[27][28][29] indicated that parents with a Turner syndrome-affected fetus would be more likely to terminate the pregnancy, with an average termination rate of 76% (range: 33-100%).…”

“…3,[8][9][10]18,20,22,23,[27][28][29] Two specific types of SCAs, 45,X (Turner syndrome) and 47,XXY (Klinefelter syndrome), in particular, were associated with termination. Nine studies (47.4%) [8][9][10]18,20,23,[27][28][29] indicated that parents with a Turner syndrome-affected fetus would be more likely to terminate the pregnancy, with an average termination rate of 76% (range: 33-100%). Seven studies (36.8%) 3,[8][9][10]18,20,22 reported a diagnosis of Klinefelter syndrome led parents to decide to terminate the pregnancy, yielding an average termination rate of 61% (range: 44-85%).…”

“…Descriptive data: Five reviewed studies (26.3%) 8,24,26,28,29 pointed to maternal age as a factor associated with the decision to terminate an SCA-affected pregnancy. Among these studies, four identified younger women (≤36 years) as more likely to terminate their pregnancies.…”

“…Descriptive data: If younger mothers are more likely to abort a SCA-affected pregnancy, older mothers are more likely to continue the pregnancy, according to five (26.3%) 22,24,26,28,29 of the reviewed studies. Brun et al, 24 for instance, retrospectively analyzed 98 SCA cases and found that older women (≥37 years) were more likely to choose to continue the pregnancy.…”