Responding to parental concerns after a prenatal diagnosis of trisomy 21.
نویسندگان
چکیده
CASE Jane and Luke were excited after hearing that Jane was pregnant. They had been married for ten years and had a healthy six year old daughter. Because of her age (36 years old), they chose to have a genetic amniocentesis at 16 weeks gestation. A trisomy 21 fetus was discovered through standard karyotyping. They described their marriage as strong. Luke managed a small shoe store and Jane was an elementary school teacher. Their daughter’s growth and development was uncomplicated; she adapted to kindergarten very well. Social support, both family and friends, was an important part of family life. Jane’s younger sister had a significant learning disability and was always in special education. When informed about the genetic diagnosis of a trisomy 21 fetus and presented with the options of either continuing the pregnancy or elective termination, the parents asked the following questions: “What is it like to raise a child who is not normal, especially a child with Down syndrome?” “How will the child do in school?”“How will our six year old daughter respond to her?”“Can we still keep our jobs and raise such a child?”
منابع مشابه
P-226: Non-Invasive Prenatal Screening for Fetal Chromosomal Anomalies in South of Iran
Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...
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OBJECTIVE To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS Among 9...
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This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screeni...
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OBJECTIVE To evaluate the natural fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 18, and a parental decision for continuation of the pregnancy. METHODS The obstetric and neonatal outcome data for 23 such pregnancies, diagnosed at a single referral Fetal Medicine Centre, were retrospectively obtained. RESULTS The overall intrauterine fetal ...
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Down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. The use of two or more STR markers related to chromosome 21 facilitates the diagnosis of Down syndrome within about six hours from the collection of the samples. This is the first study has been performed in Iranian population to assess the diagnostic value of using small tandem repe...
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ورودعنوان ژورنال:
- Journal of developmental and behavioral pediatrics : JDBP
دوره 22 2 Suppl شماره
صفحات -
تاریخ انتشار 1997