Balkan Mahmut, Kalkanli Sevgi, Akbas Halit, Yalinkaya Ahmet, Alp M Nail, Budak Turgay
Department of Medical Biology and Genetic, Medical Faculty, University of Dicle, 21280 Diyarbakir, Turkey.
J Genet Couns. 2010 Jun;19(3):241-6. doi: 10.1007/s10897-009-9275-3. Epub 2010 Jan 30.
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.
本研究调查了土耳其东南部患者样本中,在产前诊断出染色体异常后父母决定终止或继续妊娠的情况。2004年至2007年间,在狄克莱大学医学生物学与遗传学系实验室进行了1068次羊水穿刺检查。其中38例(3.56%)发现非整倍体。为结果异常的夫妇提供了遗传咨询,随后对他们进行了访谈,询问他们在诊断后是继续还是终止了妊娠。当面对预期预后严重的常染色体非整倍体时,85%的病例决定终止妊娠。当面对临床表型异常风险较低的性染色体非整倍体时,60%的病例决定继续妊娠。在非整倍体诊断中,21.1%的病例因宗教信仰而继续妊娠,无论临床表型异常风险是低还是高。这些发现表明,在土耳其,异常的严重程度和宗教信仰在遗传咨询患者的决策过程和结果中都起着重要作用。此外,研究结果表明需要立法,以减少我国医生和机构在父母决定终止或继续妊娠的方法上的差异。