Trisomy 18—when the diagnosis is compatible with life

Silva, Catarina; Ferreira, Mariana Cortez; Saraiva, Jorge; Cancelinha, Cândida

doi:10.1007/s00431-022-04477-w

Cited by 6 publications

(5 citation statements)

References 31 publications

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“…The analysis of the characteristics of patients and their mothers, seen in Table 1 — predominance of females, advanced maternal age (as compared to the general population), intrauterine growth restriction and low birthweight, low vitality at birth, prevalence of other malformations — is in accordance with the literature. 9 , 11 , 12 Regarding prenatal diagnosis, however, detection rates of the syndrome (30.3%) and cardiac malformations (69.7%) are below average of developed countries, 12 which points to the need for better prenatal care available to plan the birth of these children in proper places and with proper staff.…”

Section: Discussionmentioning

confidence: 99%

“…Many infants who received palliative care were discharged home, showing the importance of this kind of assistance in an early stage and not only at the end of life and, also, that the idea that Pediatric Palliative Care (PPC) is only for dying children and shortens life is only a myth. 9 , 16 PPC is a specialized medical care that should be indicated as soon as a life-limiting condition is diagnosed, whether there is availability or not of curative treatment.…”

Section: Discussionmentioning

confidence: 99%

“…Although the study hospital is a referral center for Fetal Medicine, this number was expected, considering the rarity of these syndromes (T18: 1.07 and T13: 0.81, per 10,000 live births). 1,9 Other studies carried out in single centers also found relatively small numbers: in a Japanese center, 17 patients with T18 who underwent surgeries in 5 years were studied; 10 in an American center, records of 19 patients with T18 or T13 and congenital heart diseases who underwent surgeries were found in 20 years. 5 In countries where abortion of fetus with those genetic conditions is common, the number of patients available to study is even lower.…”

Section: Discussionmentioning

confidence: 99%

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Patau and Edwards Syndromes in a University Hospital: beyond palliative care

Marçola,

Zoboli,

Polastrini

et al. 2024

Rev. paul. pediatr.

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Objective: To describe the newborn population with Patau (T13) and Edwards Syndrome (T18) with congenital heart diseases that stayed in the Intensive Care Unit (ICU) of a quaternary care hospital complex, regarding surgical and non-surgical medical procedures, palliative care, and outcomes. Methods: Descriptive case series conducted from January/2014 to December/2018 through analysis of records of patients with positive karyotype for T13 or T18 who stayed in the ICU of a quaternary hospital. Descriptive statistics analysis was applied. Results: 33 records of eligible patients were identified: 27 with T18 (82%), and 6 T13 (18%); 64% female and 36% male. Eight were preterm infants with gestational age between 30–36 weeks (24%), and only 4 among the 33 infants had a birth weight >2500 g (12%). Four patients underwent heart surgery and one of them died. Intrahospital mortality was 83% for T13, and 59% for T18. The majority had other malformations and underwent other surgical procedures. Palliative care was offered to 54% of the patients. The median hospitalization time for T18 and T13 was 29 days (range: 2–304) and 25 days (13–58), respectively. Conclusions: Patients with T13 and T18 have high morbidity and mortality, and long hospital and ICU stays. Multicentric studies are needed to allow the analysis of important aspects for creating protocols that, seeking therapeutic proportionality, may bring better quality of life for patients and their families.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Patau and Edwards Syndromes in a University Hospital: beyond palliative care

Marçola,

Zoboli,

Polastrini

et al. 2024

Rev. paul. pediatr.

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“…In another retrospective study, which included 255 pregnancies complicated by periviable FGR, a confirmed genetic abnormality (Trisomy 18) accounted for 33% cases of FGR [31]. Also, Silva et al [32] in their study based on 6 cases of Trisomy 18 provided that all patients had a diagnosis of fetal growth restriction. Saller et al [33] reinforce the importance of a karyotypic evaluation of selected pregnancies complicated by intrauterine growth retardation, even in the third trimester.…”

Section: Discussionmentioning

confidence: 99%

Prenatal echocardiography in Trisomy 18 — the key to diagnosis and further management in the second half of pregnancy

et al. 2023

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Objectives: Trisomy 18 is an autosomal chromosomal disorder, which is associated with numerous ranges of congenital anomalies. Purpose of this largest study in Poland was to analyze diagnosis and follow-up of fetuses with the prenatal diagnosis of Trisomy 18 in our tertiary center. Material and methods:The study was conducted in a tertiary center for fetal cardiology. The inclusion criteria comprised fetuses with karyotype of Trisomy 18. Data on number of delivery, number of pregnancy, cardiac and extracardiac diseases, type and date of childbirth, sex, birth date, Apgar score, survival time and autopsy were analyzed.Results: There were 41 fetuses with diagnosis confirmed by amniocentesis: 34 were females, 7 males. CHD was detected prenatally in 73% cases at mean gestational age of 26 weeks. The most common CHD was AV-canal (13 cases, 43%) and VSD (13 cases, 43%). In 1999-2010 the average time to detect a heart defect was 29 weeks, in 2011-2021 it was 23 weeks (p < 0.01, U-Mann-Whitney). IUGR was diagnosed in the 3 rd trimester in 29 cases (70%), polyhydramnion in 21 cases (51%).Conclusions: Congenital heart defects in female fetuses with intrauterine growth restriction in 3 rd trimester with polyhydramnios and in subsequent pregnancy, regardless of maternal age, were typical prenatal findings for Trisomy 18. Heart defects with incomplete septum such as AVC or VSD (which nowadays can be detected in the 1 st half of the pregnancy) were the most common anomaly in Edwards Syndrome. These heart defects did not require intervention in the early neonatal period.

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“…Limited experience of PPC with children affected by complex genetic disease is reported in literature (12)(13)(14), but a closer collaboration among genetic and PPC services is suitable, in order to maintain an ongoing consistent discussion about the goals of care.…”

Section: Geneticist's Perspectivementioning

confidence: 99%

Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report

Salerno¹,

Zanin²,

Cassina³

et al. 2023

Ann Palliat Med

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Background: We present a case of a Chinese child with one of the largest terminal deletions (21 Mb) of the short arm of chromosome 10 (10p) reported to date. Distal monosomy 10p is a rare chromosomal disorder characterized by intellectual disability, postnatal growth retardation, structural birth defects and dysmorphisms. Mutations in certain 10p regions have been associated with distinct clinical features, but the real weight of each component cannot be estimated in a large deletion like that of our child; therefore, long-term prognosis is difficult to predict precisely, although it certainly foresees a severe impact on the psychomotor development of the child.Case Description: Diagnosis was made in the early neonatal period because of several dysmorphic features and multiple organ involvement. Since the patient's care needs were complex, the Pediatric Palliative Care (PPC) and Pain Service team was involved as a case manager and coordinator from the beginning. In the Veneto region of Italy, our PPC center offers a palliative care approach, through the national health system, embedded with curative-restorative care providing many support activities (such as physiotherapy, physiological support and home assistance) valuable for patients and their families' quality of life. Despite overlap in many characteristics of our child and other children who receive PPC services, the experience of children who have rare genetic conditions and undetermined prognosis with PPC services is still largely unknown. Periodic hospitalization for multidisciplinary follow-up and reassessment of patient's needs were arranged and any rehabilitation program focused on improving her skills was followed. At 5 years of age, her medical condition is controlled and well managed.Conclusions: This case represents a good example of complex care management by the PPC team, which takes into account the patient's and family's needs enhancing their quality of lives, as reported and underlined by parents themselves. This approach could be considered for other children with rare medical conditions without a definite prognosis.

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Trisomy 18—when the diagnosis is compatible with life

Cited by 6 publications

References 31 publications

Patau and Edwards Syndromes in a University Hospital: beyond palliative care

Patau and Edwards Syndromes in a University Hospital: beyond palliative care

Prenatal echocardiography in Trisomy 18 — the key to diagnosis and further management in the second half of pregnancy

Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report

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