The Natural History of Pregnancies With Prenatal Diagnosis of Trisomy 18 or Trisomy 13: Retrospective Cases of a 23-Year Experience in a Brazilian Public Hospital

Duque, Julio Alejandro Peña; Ferreira, Charles Francisco; Sanseverino, Maria Teresa Vieira; Gus, Rejane; Magalhães, José Antônio de Azevedo

doi:10.22533/at.ed.83019231222

Cited by 2 publications

(4 citation statements)

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“…These results are in keeping with those of Duque et al. who reported on natural outcomes of a small series of 29 prenatally diagnosed cases with T18 from Brazil, where TOP is restricted 18 . Their live birth rate was 37%.…”

Section: Discussionsupporting

confidence: 91%

“…While earlier studies often included more postnatally diagnosed patients, all our patients had a prenatal diagnosis of T18, as is the case in more recent studies 18,19,22 . The South African Choice of Termination of Pregnancy act No 92 of 1996 26 allows for TOP for severe malformations up to term.…”

Section: Discussionmentioning

confidence: 89%

“…Although there are many published studies on survival rates of patients born with T18, these vary widely with reported live birth and 1‐year survival rates of 20%–90% and 0%–30%, respectively 14,17–20 . Older studies relied on population registries and many of the patients were diagnosed postnatally, while more recent studies included prenatally diagnosed patients.…”

Section: Discussionmentioning

confidence: 99%

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Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16‐year experience from a public hospital in South Africa

et al. 2022

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Objective Many studies, largely from high‐income countries (HIC), have reported outcomes in babies with trisomy 18 (T18), with a paucity of data from Africa. Knowledge of outcomes is important in counselling women prenatally diagnosed with T18. We aimed to review all prenatally diagnosed cases of T18 between January 2006 and December 2021. Method Demographic data, diagnosis, gestation and outcome data were obtained from the Astraia® database and patient files. Results We included 88 pregnant women of whom 46 terminated their pregnancies (30 beyond 24 weeks' gestation). Three underwent foeticides, one had a caesarean section for maternal obstetric reasons and 26 underwent inductions of labour without foetal monitoring. Four neonates were live born but none lived >8 h. In those who continued their pregnancies, the mean gestation at delivery was 34.8 weeks, 14 (33%) were live births and only 5 survived for >24 h with none surviving to 1 year of life. Conclusion In our cohort, infants with T18 had lower live birth rates and shorter survival than in the current literature from HIC. This may be due to the implementation of non‐aggressive intrapartum care and comfort care for the neonates. This has implications for counselling in our setting.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

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Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16‐year experience from a public hospital in South Africa

et al. 2022

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“…Additional information available in the literature regarding the use of a patient-centered care approach and the impact of surgical interventions on the long-term outcomes were also communicated [2,3,6,8,14,[25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44]. Following a painful decision-making process, a final request for therapeutic termination of pregnancy was made.…”

Section: Introductionmentioning

confidence: 99%

A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counselling on trisomy 18 in early second trimester

Triunfo¹,

Bonollo²,

Gaffuri³

et al. 2020

Preprint

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Identified by the eponym “Edwards’ Syndrome,” trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. The three-step evaluation includes first trimester screening for fetal aneuploidy using a combination of maternal age, fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A; followed by the research for fragments of fetal DNA in maternal blood; and, finally, invasive techniques leave to the established diagnosis. Starting with the first trimester scan, selected ultrasound findings should be investigated to define not only the impact of the genetic problem on the fetus, but also to address the prenatal counselling. Previous series underline that T18 is not uniformly lethal. An active dialogue on the choices in the management of infants with T18 has emerged, sustained by the transition from the comfort care to the intervention attitude. Survival rates for individuals with supposedly fatal conditions have increased. In this novel scenario, an ad hoc counselling is pivotal. To support it, a comparative analysis by pictorial assays between ultrasound and autopsy findings could be beneficial. We provide an illustrative tool from a clinical case managed in early second trimester, with the purpose to strive a balanced approach in the hard choice faced by couples of fetuses with T18.

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The Natural History of Pregnancies With Prenatal Diagnosis of Trisomy 18 or Trisomy 13: Retrospective Cases of a 23-Year Experience in a Brazilian Public Hospital

Cited by 2 publications

References 0 publications

Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16‐year experience from a public hospital in South Africa

Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16‐year experience from a public hospital in South Africa

A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counselling on trisomy 18 in early second trimester

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