Parental Decisions Following Prenatal Diagnosis of Chromosomal Abnormalities: Implications for Genetic Counseling Practi
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ORIGINAL RESEARCH
Parental Decisions Following Prenatal Diagnosis of Chromosomal Abnormalities: Implications for Genetic Counseling Practice in Japan Nobuhiro Suzumori & Kyoko Kumagai & Shinobu Goto & Akira Nakamura & Mayumi Sugiura-Ogasawara
Received: 19 December 2012 / Accepted: 8 July 2014 # National Society of Genetic Counselors, Inc. 2014
Abstract Parental decision-making to terminate or continue a pregnancy was studied after prenatal diagnosis of a chromosome aneuploidy among a sample of patients around the city of Nagoya, Japan. A total of 1,051 amniocentesis cases at 15– 18 weeks of gestation were analyzed. Of these, 60 cases of chromosomal anomalies with aneuploidies were diagnosed by conventional cytogenetic analysis. Of the 45 diagnoses of autosomal chromosome aneuploidies, pregnancy was terminated in 93.3 % of the cases. Of the 15 cases diagnosed with sex chromosome aneuploidy, pregnancy was terminated in 46.7 %. Differences in parental decisions with respect to maternal age, gestational week at diagnosis, number of pregnancies per individual and existing number of children were not significant in patients diagnosed either with autosomal or sex chromosome aneuploidy. The findings indicate that when diagnosed with a chromosome aneuploidy in which a severe prognosis was expected, most couples decided to terminate the pregnancy in Japan. Implications of these findings for expanding the profession of genetic counseling are discussed and research recommendations are provided. Keywords Prenatal diagnosis . Termination . Genetic counseling . Chromosome aneuploidy . Japan Electronic supplementary material The online version of this article (doi:10.1007/s10897-014-9744-1) contains supplementary material, which is available to authorized users. N. Suzumori (*) : K. Kumagai : S. Goto : M. Sugiura-Ogasawara Division of Clinical and Molecular Genetics, Department of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan e-mail: [email protected] A. Nakamura Chiba University of Commerce, 1-3-1, Konodai, Ichikawa, Chiba 272-8512, Japan
Indications for amniocentesis at 15–18 weeks of gestation include advanced maternal age, maternal serum screening results, ultrasonographic findings for congenital malformations or markers of aneuploidy, and chromosomal abnormality in a previous pregnancy (Eldahdah et al. 2007). Cytogenetic karyotype analysis by amniocentesis is highly accurate as compared to cell free fetal DNA testing, which has become clinically available in a few countries for women at increased risk of fetal aneuploidy (Bianchi et al. 2012). When an abnormal karyotype is identified by prenatal diagnosis, parents are faced with decision options that include termination versus continuation of the pregnancy (Balkan et al. 2010; Eldahdah et al. 2007). Decisions concerning prenatal testing and termination of pregnancy in case of affected fetuses are complex and may be influenced by a variety of factors, such as the c
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