Medical interventions for children with trisomy 13 and trisomy 18: what is the value of a short disabled life?

2013 ◽  
Vol 102 (12) ◽  
pp. 1112-1117 ◽  
Author(s):  
Annie Janvier ◽  
Andrew Watkins
Keyword(s):  
Trisomy 18 ◽  
Trisomy 13 ◽  
Medical Interventions

Trisomy 18 Pregnancies: Is there an Increased Maternal Risk?

2017 ◽  
Vol 34 (11) ◽  
pp. 1054-1057
Author(s):  
Kayli Senz ◽  
Whitney Humphrey ◽  
Vanessa Lee ◽  
Aaron Caughey ◽  
Sarah Dotters-Katz
Keyword(s):  
International Classification Of Diseases ◽  
Vital Statistics ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Obstetric Outcomes ◽  
Maternal Risk ◽  
Increased Risk ◽  
Multiparous Women ◽  
Classification Of Diseases ◽  
The Impact

Objective Characterize the impact of a trisomy 18 (T18) fetus on maternal and obstetric outcomes in a cohort including T18-affected deliveries. Study Design Retrospective cohort study of singleton deliveries in California from 2005 to 2008 using linked vital statistics and the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9) data to compare deliveries affected by T18 to those without known aneuploidy. Outcomes of interest included gestational diabetes mellitus (GDM), preterm delivery (PTD), preeclampsia, cesarean delivery (CD), and intrauterine fetal demise (IUFD). The χ2 and paired t-tests were used to compare the outcomes. Multiple logistic regression was used to further characterize these risks and control potential confounders. Results Of 2,029,000 deliveries, 298 involved T18. Compared with unaffected deliveries, T18 was associated with GDM (10.7 vs. 6.5%, p = 0.003), PTD < 37 (40.6 vs. 9.9%, p < 0.001) and < 32 weeks (14.8 vs. 1.4%, p < 0.001), and cesarean section (56 vs. 30.2%, p < 0.001), but not preeclampsia. In adjusted analyses, T18 pregnancies were associated with an increased risk of PTD < 37 and < 32 weeks (adjusted odds ratio [AOR]: 5.48, 95% confidence interval [CI]: 4.29, 6.99; AOR: 10.4, 95% CI: 7.26, 14.8), and an increased odd of CD for primiparous and multiparous women (AOR: 2.41, 95% CI: 1.48, 3.91; AOR: 5.42, 95% CI: 3.90, 7.53). Risk of GDM did not persist. Conclusion Unlike trisomy 13 (T13), pregnancies complicated by fetal T18 did not appear to result in an increased risk of preeclampsia. However, there is an increased risk of a range of other obstetric complications.

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

Cardiac Interventions for Patients With Trisomy 13 and Trisomy 18: Experience, Ethical Issues, Communication, and the Case for Individualized Family-Centered Care

2021 ◽  
Vol 13 (1) ◽  
pp. 72-76
Author(s):  
John P. Cleary ◽  
Annie Janvier ◽  
Barbara Farlow ◽  
Meaghann Weaver ◽  
James Hammel ◽  
...  
Keyword(s):  
Support Groups ◽  
Heart Surgery ◽  
Ethical Issues ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Term Survival ◽  
Comfort Care ◽  
Additional Layer ◽  
Shared Stories ◽  
Case Vignettes

This report is informed by the themes of the session Trisomy 13/18, Exploring the Changing Landscape of Interventions at NeoHeart 2020—The Fifth International Conference of the Neonatal Heart Society. The faculty reviewed the present evidence in the management of patients and the support of families in the setting of trisomy 13 and trisomy 18 with congenital heart disease. Until recently medical professionals were taught that T13 and 18 were “lethal conditions” that were “incompatible with life” for which measures to prolong life are therefore ethically questionable and likely futile. While the medical literature painted one picture, family support groups shared stories of the long-term survival of children who displayed happiness and brought joy along with challenges to families. Data generated from such care shows that surgery can, in some cases, prolong survival and increase the likelihood of time at home. The authors caution against a change from never performing heart surgery to always—we suggest that the pendulum of intervention find a balanced position where all therapies including comfort care and surgery can be reviewed. Families and clinicians should typically be supported and empowered to define the best care for their children and patients. Key concepts in communication and case vignettes are reviewed including the importance of supportive relationships and the fact that palliative care may serve as an additional layer of support for decision-making and quality of life interventions. While cardiac surgery may be beneficial in some cases, surgery should not be the primary focus of initial family education and support.

Natural history of trisomy 18 and trisomy 13: II. Psychomotor development

1994 ◽  
Vol 49 (2) ◽  
pp. 189-194 ◽  
Author(s):  
Bonnie J. Baty ◽  
Lynn B. Jorde ◽  
Brent L. Blackburn ◽  
John C. Carey
Keyword(s):  
Natural History ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Psychomotor Development ◽  
History Of

Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18

2016 ◽  
Vol 172 (3) ◽  
pp. 279-287 ◽  
Author(s):  
Annie Janvier ◽  
Barbara Farlow ◽  
Keith J. Barrington
Keyword(s):  
Trisomy 18 ◽  
Trisomy 13
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