Care of children with trisomy 18 in Japan

Kosho, Tomoki

doi:10.1002/ajmg.a.32355

Cited by 26 publications

(30 citation statements)

References 9 publications

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“…In our country, there is no specific guideline for the management of patients with trisomy 18 in the public health system. However, the management plan is very similar to that in Japan, illustrated by Kosho [2008]: the parents are informed about the conditions of the patient and the prognosis related to the disease and they have total autonomy to decide withdrawal or withholding the life-sustaining medical treatment.…”

Section: Discussionmentioning

confidence: 98%

Trisomy 18: Experience of a reference hospital from the south of Brazil

Rosa

Lorenzen³

et al. 2011

American J of Med Genetics Pt A

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Trisomy 18 is a chromosomal syndrome characterized by a broad clinical picture, as well as a very reserved prognosis. The aim of our study was to verify the clinical characteristics and survival of patients diagnosed in a referral hospital in southern Brazil. Our sample consisted of 31 patients, 22 were female (71%), ages ranging from 1 to 1,395 days (median 14 days). The majority had a single cell lineage with full trisomy of chromosome 18 (94%). Concerning pregnancy complications, pre-eclampsia was the main abnormality described (17%). Fetal ultrasound was performed in 23 cases, and the most frequent abnormalities were polyhydramnios (41%) and intrauterine growth retardation (27%). There were no reports of prenatal identification of the syndrome. Most patients were born by cesarean due to pregnancy and fetal complications and about half of the cases were premature. Congenital heart defects represented the main major malformation observed (94%). Thirty patients (97%) progressed to death (survival ranged from 2 to 780 days, and 87% died within the first 6 months of life). Trisomy 18 is a serious chromosomal disorder with limited survival. Abnormalities of pregnancy appear to be frequent, which can lead to complications for both fetus and mother. The prenatal identification of these patients in our country is still inadequate, resulting in important implications for genetic counseling and management of these patients and their families. And this makes the possibility of interruption of pregnancy, regardless of ethical factors involved, an unlikely option.

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Section: Discussionmentioning

confidence: 98%

Trisomy 18: Experience of a reference hospital from the south of Brazil

Rosa

Lorenzen³

et al. 2011

American J of Med Genetics Pt A

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“…In an Invited Comment Kosho [103] reflected on the varied views in Japan on the care of infants with trisomy 18. This author summarized a series of guidelines for parents and providers in determining choices around the medical care of serious newborn conditions of which trisomy 18 represents the prototype.…”

Section: Unresolved Questionsmentioning

confidence: 99%

The trisomy 18 syndrome

Cereda

Carey

2012

Orphanet J Rare Dis

304

328

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The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%.Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition.Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team.The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.

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“…The most important problems in this argument were that there was no evidence about the improvement of prognosis of trisomy 13 treated at the Neonatal Intensive Care Unit (NICU) of Dokkyo Medical University Hospital. In the same context, Kosho et al [11, 13] investigated the prognosis of intensive treatments in 24 Japanese patients with trisomy 18 at NICU. This report argued better prognosis of trisomy 18 through treatment at NICU based on improved survival period, and the data provide helpful guidelines for clinicians by offering the best information on treatment options for families of patients with trisomy 18.…”

Section: Introductionmentioning

confidence: 99%

Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients

Tsukada

Imataka

Suzumura

et al. 2012

Cell Biochem Biophys

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Intensive treatment for newborns with trisomy 13 is controversial because of their lethal prognosis. We report the better life prognosis of patients with trisomy 13 who received intensive treatment. At our hospital, we provided an intensive management to such patients including resuscitation and surgical procedures as required. Herein, we present the results of a retrospective study (1989–2010) of 16 trisomy 13 cases who received an intensive treatment. None was diagnosed to have trisomy 13 before birth; 9 were delivered by C-section and oxygen was administered to all patients during postpartum resuscitation. Mechanical ventilation was used in 9 patients after tracheal intubation and tracheotomy was performed in 2 patients when withdrawing of extubation was difficult. Regarding prognosis, 9 patients died, 3 were referred to another hospital, and 4 were discharged from the hospital. Four and 7 patients died within 7 and 30 days after birth, respectively. Nine patients survived for >1 month, 7 for >180 days, and 5 for >3 years. Median survival for 16 patients was 733 days. The patients who received intensive treatments survived longer compared to the previous data. This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13.

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Care of children with trisomy 18 in Japan

Cited by 26 publications

References 9 publications

Trisomy 18: Experience of a reference hospital from the south of Brazil

Trisomy 18: Experience of a reference hospital from the south of Brazil

The trisomy 18 syndrome

Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients

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