Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. 2014

Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
Kaiser Permanente, Panorama City, California.

Trisomy 13 and trisomy 18 (T13-18) are associated with high rates of perinatal death and with severe disability among survivors. Prenatal diagnosis (PND) may lead many women to terminate their pregnancy but some women choose to continue their pregnancy. We sent 503 invitations to answer a questionnaire to parents who belong to T13 and 18 internet support groups. Using mixed methods, we asked parents about their prenatal experience, their hopes, the life of their affected child, and their family experience. 332 parents answered questions about 272 children; 128 experienced PND. These parents, despite feeling pressure to terminate (61%) and being told that their baby would likely die before birth (94%), chose to continue the pregnancy. Their reasons included: moral beliefs (68%), child-centered reasons (64%), religious beliefs (48%), parent-centered reasons (28%), and practical reasons (6%). At the time of the diagnosis, most of these parents (80%) hoped to meet their child alive. By the time of birth, 25% chose a plan of full interventions. A choice of interventions at birth was associated with fewer major anomalies (P < 0.05). Parents describe "Special" healthcare providers as those who gave balanced and personalized information, respected their choice, and provided support. Parents make decisions to continue a pregnancy and choose a plan of care for their child according to their beliefs and their child's specific medical condition, respectively. Insights from parents' perspective can better enable healthcare providers to counsel and support families.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009026 Mortality All deaths reported in a given population. CFR Case Fatality Rate,Crude Death Rate,Crude Mortality Rate,Death Rate,Age Specific Death Rate,Age-Specific Death Rate,Case Fatality Rate,Decline, Mortality,Determinants, Mortality,Differential Mortality,Excess Mortality,Mortality Decline,Mortality Determinants,Mortality Rate,Mortality, Differential,Mortality, Excess,Age-Specific Death Rates,Case Fatality Rates,Crude Death Rates,Crude Mortality Rates,Death Rate, Age-Specific,Death Rate, Crude,Death Rates,Determinant, Mortality,Differential Mortalities,Excess Mortalities,Mortalities,Mortality Declines,Mortality Determinant,Mortality Rate, Crude,Mortality Rates,Rate, Age-Specific Death,Rate, Case Fatality,Rate, Crude Death,Rate, Crude Mortality,Rate, Death,Rate, Mortality,Rates, Case Fatality
D010290 Parents Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent. Step-Parents,Parental Age,Parenthood Status,Stepparent,Age, Parental,Ages, Parental,Parent,Parental Ages,Status, Parenthood,Step Parents,Step-Parent,Stepparents
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011256 Pregnancy Outcome Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; or SPONTANEOUS ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO. Outcome, Pregnancy,Outcomes, Pregnancy,Pregnancy Outcomes
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D011795 Surveys and Questionnaires Collections of data obtained from voluntary subjects. The information usually takes the form of answers to questions, or suggestions. Community Survey,Nonrespondent,Questionnaire,Questionnaires,Respondent,Survey,Survey Method,Survey Methods,Surveys,Baseline Survey,Community Surveys,Methodology, Survey,Nonrespondents,Questionnaire Design,Randomized Response Technique,Repeated Rounds of Survey,Respondents,Survey Methodology,Baseline Surveys,Design, Questionnaire,Designs, Questionnaire,Methods, Survey,Questionnaire Designs,Questionnaires and Surveys,Randomized Response Techniques,Response Technique, Randomized,Response Techniques, Randomized,Survey, Baseline,Survey, Community,Surveys, Baseline,Surveys, Community,Techniques, Randomized Response
D002882 Chromosomes, Human, Pair 13 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 13
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18

Related Publications

Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
April 2017, JAMA pediatrics,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
March 2021, Cardiology in the young,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
April 2005, Journal of genetic counseling,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
November 2011, American journal of medical genetics. Part A,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
April 2008, American journal of medical genetics. Part A,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
August 2014, Harefuah,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
August 2003, Early human development,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
January 1976, Obstetrics and gynecology,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
June 2018, Journal of genetic counseling,
Jennifer Guon, and Benjamin S Wilfond, and Barbara Farlow, and Tracy Brazg, and Annie Janvier
April 2017, American journal of medical genetics. Part A,
Copied contents to your clipboard!