Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004

Lin, Hsiang‐Yu; Lin, Shuan‐Pei; Chen, Yen-Jiun; Hung, Han-Yang; Kao, Hsin-An; Hsu, Chyong-Hsin; Chen, Ming–Ren; Chang, Jui‐Hsing; Ho, Che‐Sheng; Huang, Fu‐Yuan; Shyur, Shyh-Dar; Lin, Dar-Shong; Lee, Hung‐Chang

doi:10.1002/ajmg.a.31173

Cited by 117 publications

(165 citation statements)

References 25 publications

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“…at the first and fifth minute that we observed in our study was similar to what was described by Lin et al 19 and Rosa et al 4 A significant proportion of the fetuses with T18 die while still in utero, as observed in our sample (50% …”

supporting

confidence: 92%

“…Regarding low birth weight, our frequency of 100% was similar to that described in the literature, 13,19,20 including studies developed in Brazil. 4,5 Regarding Apgar scores, the high rate of patients presenting scores below 7 (suggestive of some degree of anoxia)…”

supporting

confidence: 86%

“…These high rates of cesarean section have also been frequently described in the literature (50 to 90%). 4,5,13,17,19,20 It is noteworthy that there are some studies specifically drawing attention to this finding. 17 In our sample, we believe that this feature was related to prenatal detection of major malformations, which thus influenced the choice of cesarean section as the delivery route.…”

mentioning

confidence: 80%

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Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil

Denardin¹,

Savaris²,

Cunha³

et al. 2014

Sao Paulo Med. J.

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supporting

confidence: 92%

supporting

confidence: 86%

mentioning

confidence: 80%

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Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil

Denardin¹,

Savaris²,

Cunha³

et al. 2014

Sao Paulo Med. J.

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“…Diaphragmatic hernia is considered to be a less common abnormality, and has been described in less than 8% of the patients. [2][3][4] This frequency was similar to our study (2%).Thus, Edwards syndrome should always be considered among dysmorphic children presenting these major gastrointestinal malformations. Diagnosing it is important for proper management and for determining the prognosis for these patients.…”

supporting

confidence: 85%

Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations

Rosa

Lorenzen

et al. 2013

Sao Paulo Med. J.

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Trisomy 18 or Edwards syndrome is a chromosomal disease characterized by involvement of many organs and systems, and limited survival. 1 The aim of our study was to determine the frequency and types of major gastrointestinal abnormalities observed among patients withEdwards syndrome. The sample consisted of patients consecutively evaluated over the period between 1975 and 2008 in a clinical genetics service at a referral hospital in southern Brazil.Clinical data and karyotype results were gathered from this hospital's medical records. We useFisher's exact test (two-tailed) to compare frequencies (P values < 0.05 were considered significant). Thus, our sample was composed of 50 patients, of whom 33 (66%) were female. Their ages at the first evaluation ranged from 1 day to 16 years (median 14 days). Eight of the patients (16%) were born in that hospital.Presence of a single lineage with free trisomy of chromosome 18 was the main abnormality, observed in 90% of the cases. The remainder consisted of patients with mosaicism. Major gastrointestinal abnormalities were observed in eight patients (16%): two cases of esophageal atresia (4%), three of tracheoesophageal fistula (6%) (one associated with esophageal atresia), one of diaphragmatic hernia (2%) and three of omphalocele (6%). Among these eight patients, five (62%) were female. Their ages at the time of the initial evaluation ranged from one to 70 days (median 7.5 days). Only two patients (25%) presented a clinical suspicion of Edwards syndrome. Additional abnormalities, including minor and major anomalies, were observed in all cases. These included dysmorphic features like a clenched fist with overlapping fingers and major malformations like congenital heart defects. None had a chromosomal constitution with mosaicism. Three patients underwent surgical correction of their defects (one with esophageal atresia, one with tracheoesophageal fistula and one with omphalocele). In all cases, the diagnosis of Edwards syndrome was made only after surgery.Gastrointestinal malformations are frequent among patients with Edwards syndrome. In the literature, the frequency of esophageal atresia among these patients ranges from 16 to 18%. 2-4Despite the frequency of 4% observed in our study, no statistically significant difference was seen using Fisher's exact test when we compared it with these studies. However, it is noteworthy that the samples in other studies (n = 24 to 39 patients) were smaller than in ours (n = 50).Patients with esophageal atresia usually present the associated finding of tracheoesophageal fistula, 4,5 as observed in one of our two patients. Omphalocele has been described in less than 10% of the patients, 2-5 which is compatible with the rate in our study (6%). Despite the possible association described in the literature, 5 none of our patients with omphalocele presented a neural tube defect. Diaphragmatic hernia is considered to be a less common abnormality, and has been described in less than 8% of the patients. [2][3][4] This frequency was similar to our ...

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“…9,10 An estimated 60% to 80% of fetuses with trisomy 18 have congenital heart disease; one-third of these have complex lesions. 11 Experience with cardiac repairs for infants with trisomy 18 or 13 is limited. 9 The largest series of 24 operative cases was published by Graham et al 12 in 2004; none involved complex single-ventricle anatomy.…”

Section: The Fetal Medicine Team's Responsementioning

confidence: 99%

Trisomy 18 and Complex Congenital Heart Disease: Seeking the Threshold Benefit

et al. 2013

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A prenatal diagnosis of ductal-dependent, complex congenital heart disease was made in a fetus with trisomy 18. The parents requested that the genetic diagnosis be excluded from all medical and surgical decision-making and that all life-prolonging therapies be made available to their infant. There was conflict among the medical team about what threshold of neonatal benefit could outweigh maternal and neonatal treatment burdens. A prenatal ethics consultation was requested.

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Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004

Cited by 117 publications

References 25 publications

Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil

Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil

Trisomy 18 (Edwards syndrome) and major gastrointestinal malformations

Trisomy 18 and Complex Congenital Heart Disease: Seeking the Threshold Benefit

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