Clinical course and perinatal management of fetuses and newborns affected by trisomy 13 and 18: a retrospective single-centre cohort study
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Summary
This summary is machine-generated.Trisomy 13 and Trisomy 18 infants show variable survival, highlighting the need for individualized perinatal care. Management requires an interdisciplinary approach, focusing on informed decisions, comfort, and quality of life.
Area Of Science
- Medical Genetics
- Perinatal Medicine
- Neonatal Care
Background
- Trisomy 13 (T13) and Trisomy 18 (T18) are severe chromosomal abnormalities with historically poor prognoses.
- Emerging evidence suggests some infants with T13 and T18 may survive longer than anticipated, necessitating a re-evaluation of care strategies.
Purpose Of The Study
- To analyze survival and management outcomes for pregnancies with Trisomy 13 and Trisomy 18.
- To inform individualized perinatal and neonatal care approaches for these conditions.
Main Methods
- Retrospective analysis of 193 pregnancies diagnosed with T13 or T18 between 2005 and 2023.
- Evaluation of fetal/maternal characteristics, survival rates, and perinatal/postnatal management.
- Comparison of outcomes based on diagnostic gestational age and parental decisions (TOP vs. continuation).
Main Results
- 142 cases of T18 and 51 cases of T13 were identified; 90.7% had associated malformations, most commonly congenital heart defects.
- 83.4% of women opted for termination of pregnancy (TOP).
- For continuing pregnancies, intrauterine fetal death occurred in 65.6%; 11 live births resulted, with survival ranging from minutes to 60 days (median 18 hours). T18 infants survived longer (median 33 hours) than T13 infants (median 6.5 hours).
Conclusions
- Survival duration for infants with T13 and T18 is highly variable and unpredictable.
- Management requires an interdisciplinary framework to support families in making informed, individualized decisions.
- Care should balance the poor prognosis with a focus on infant comfort, dignity, and quality of life.
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