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The Impact of Cardiac Surgery in Patients with Trisomy 18 and Trisomy 13 in Japan

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Jun Maeda,1 Hiroyuki Yamagishi,1* Yoshiyuki Furutani,2 Mitsuhiro Kamisago,3 Tadashi Waragai,4 Shinji Oana,5 Hiroki Kajino,6 Hiroyuki Matsuura,7 Katsuhiko Mori,8 Rumiko Matsuoka,2 and Toshio Nakanishi9
1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women’s Medical University, Tokyo, Japan 3Department of Pediatrics, Nippon Medical School, Tokyo, Japan 4Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan 5Division of General Pediatrics, Department of Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan 6Department of Pediatrics, Asahikawa Medical School, Hokkaido, Japan 7The First Department of Pediatrics, Toho University Omori Medical Center, Tokyo. Japan 8Department of Pediatrics, Sakakibara Memorial Hospital, Tokyo. Japan 9Department of Pediatric Cardiology, Tokyo Women’s Medical University, Tokyo, Japan 
Received 9 December 2010; Accepted 29 July 2011
 
Congenital heart defects (CHD) are very common in patients with trisomy 18 (T18) and trisomy 13 (T13). The surgical indication of CHD remains controversial since the natural history of these trisomies is documented to be poor. To investigate the outcome of CHD in patients with T18 and T13, we collected and evaluated clinical data from 134 patients with T18 and 27 patients with T13 through nationwide network of Japanese Society of Pediatric Cardiology and Cardiac Surgery. In patients with T18, 23 (17%) of 134 were alive at this survey. One hundred twenty-six (94%) of 134 patients had CHDs. The most common CHD was ventricular septal defect (VSD, 59%). Sixtyfive (52%) of 126 patients with CHD developed pulmonary hypertension (PH). Thirty-two (25%) of 126 patients with CHD underwent cardiac surgery and 18 patients (56%) have survived beyond postoperative period. While palliative surgery was performed in most patients, six cases (19%) underwent intracardiac repair for VSD. Operated patients survived longer than those who did not have surgery (P<0.01). In patients with T13, 5 (19%) of 27 patients were alive during study period. Twenty-three (85%) of 27 patients had CHD and 13 (57%) of 27 patients had PH. Atrial septal defect was the most common form of CHD (22%). Cardiac surgery was done in 6 (26%) of 23 patients. In this study, approximately a quarter of patients underwent surgery for CHD in both trisomies. Cardiac surgery may improve survival in selected patients with T18. 2011 Wiley Periodicals, Inc.
 
Key words: trisomy 18; trisomy 13; cardiac surgery
 
 

The Risk of Fetal Loss Following a Prenatal Diagnosis of Trisomy 13 or Trisomy 18

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Joan K. Morris1* and George M. Savva2
1Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St. Bartholomew’s and the London, Queen Mary’s School of Medicine and Dentistry, Charterhouse Square, London, UK
2Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
Received 12 July 2007; Accepted 23 November 2007
 
The objective of this study is to determine the risk of fetal loss (spontaneous abortion or stillbirth) following a prenatal diagnosis of trisomy 13 (T13; Patau syndrome) or trisomy 18 (T18; Edwards syndrome). Five regional congenital anomaly registers in England and Wales provided details on the outcomes of 198 pregnancies prenatally diagnosed with T13 and 538 prenatally diagnosed with T18. For each pregnancy the time from prenatal diagnosis until birth, miscarriage or termination occurred was calculated and these times were analyzed using Kaplan–Meier survival functions. Our results showed that between 12 weeks gestation and term an estimated 49% (95% CI: 29–73%) of pregnancies diagnosed with T13 and 72% (61–81%) of pregnancies diagnosed with T18 ended in a miscarriage or stillbirth. Between 18 weeks and term the proportions were 42% (18–72%) for T13 and 65% (57–79%) for T18 and between 24 weeks and term the proportions were 35% (5–70%) for T13 and 59% (49–77%) for T18. Male fetuses with T18 appeared to be more likely to be lost than female fetuses. These are the most precise estimates currently available for the risk of loss in a general population. These estimates should be useful in counseling women who are carrying an affected fetus and knowing the risk of fetal loss is essential to compare the performance of prenatal screening programs occurring in the first and second trimester. 2008 Wiley-Liss, Inc.
 
Key words: trisomy 13; trisomy 18; spontaneous fetal loss
 

Trisomy 13 (Patau Syndrome) and Craniosynostosis

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By Rafael F.M. Rosa,1,2 Rosana C.M. Rosa,2 Jos e A.M. Flores,3 Daniel T. Chazan,4 Cristine Dietrich,5 Mariana B. de Barth,5 Vanessa F. Carpes,5 Andr e C. da Cunha,5 Carla Graziadio,2,6 and Paulo R.G. Zen2,6*
1Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), RS, Brazil
2Graduate Program in Pathology, Universidade Federal de Ci^encias da Sa ude de Porto Alegre (UFCSPA), RS, Brazil
3Pediatric Radiology Service, Hospital da Crianc¸a Santo Ant^onio (HCSA)/Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), RS, Brazil
4Pediatrics Service, HMIPV, RS, Brazil
5Fetal Medicine Service, HMIPV, RS, Brazil
6Clinical Genetics, UFCSPA and CHSCPA, RS, Brazil
Received 18 March 2011; Accepted 6 April 2011
 
Trisomy 13 or Patau syndrome is considered a rare chromosomal disease. It was first described by Patau et al. [1960] and its prevalence ranges from 1 to 5,000–12,000 births. It is clinical characterized by multiple malformations, involving especially the face, heart, and limbs, besides a very limited survival [Jones, 2006; Pont et al., 2006; Carey, 2010]. Despite the great variability of the clinical picture presented by the syndrome, craniosysnostosis seems to be a feature uncommonly described among these patients [Mankinen and Sears, 1976; Sullivan et al., 1990; Unal et al., 2009; Aypar et al., 2011].
 
We report on two patients with trisomy 13 presenting craniosynostosis who show involvement of different sutures. The first was a 1-day-old Caucasian girl, the fourth child of nonconsanguineous parents aged 44 years (mother) and 26 years (father). The child was born through vaginal delivery, prematurely at 36 weeks and 3 days of gestation, weighing 2,640 g (10–50th centile), measuring 46 cm (10–50th centile), with head circumference of 32 cm (10–50th centile), and Apgar score of 5 at first minute and 6 at fifth minute. The mother had chronic hypertension and used the angiotensin-converting enzyme inhibitor captropril during the first 2 months of gestation. Later, she was changed to methyldopa. She denied the use of other drugs or smoking. She drank occasionally (beer) during the pregnancy. During the pregnancy she had an ultrasound at 36 weeks, which showed the fetus had a keel shaped skull (trigonocephaly) (Fig. 1), long bones at 10th centile, and bilateral pyelocalicial dilatation. This last feature was confirmed postnatally through an abdominal ultrasound.
 
Onphysical exam, the proposita presented with a keel shape skull (trigonocephaly); upslanting palpebral fissures; broad nose; anteverted nares; micrognathia; small, dysplastic, and low set ears; and postaxial polydactyly of the right hand. The images of the patient at age of 16 days can be seen in Figure 2. Skull radiographies confirmed the finding of premature closure of the metopic suture. Ophthalmologic assessment disclosed a bilateral cataract. The echocardiographic study showed a heart deviatedto the right presenting a small atrial septal defect of ostium secundum type and a tinny patent ductus arteriosus. Karyotype with GTG-Banding showed 47,XX,þ13[15]. The child developed seizures and episodes of apnea and cyanosis, and died at 20 days of life.
 

Variable Expressivity in Patau Syndrome is Not All Related to Trisomy 13 Mosaicism

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By Hui-Fang Hsu1 and Jia-Woei Hou
Department of Pediatrics, Chang Gung Children’s Hospital, Taoyuan, Taiwan
Chang Gung Institute of Technology, Taoyuan, Taiwan

Received 17 April 2006; Accepted 13 March 2007

Patau syndrome (trisomy 13) is very rare in live-born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13. We reviewed the detailed data of 13 Patau syndrome live-born babies. Among them two individuals were delivered from continuation of pregnancy even after prenatal diagnosis. The remaining 11 patients were born to younger mothers who did not undergo amniocentesis because no major anomalies except for cleft lip/palate were found on prenatal sonograms. The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in our series. However, certain serious central defects (holoprosencephaly, omphalocele, and single umbilical artery), which are easily recognized from prenatal sonogram, occurred less frequently than those stated in the literature. The median survival time was 95 days and was longer than that previously reported. There were two infants with trisomic mosaicism with different outcomes in both clinical spectrum and survival. Otherwise, we also found the increased recurrence risks of aneuploidy in two individuals, and the longest survivor (84 months) of nonmosaic trisomy 13 in Taiwan. We thus suggest that longterm survival in our series is strongly correlated with different expressivity after prenatal selection, in addition to cytogenetic mosaicism. Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses. 2007 Wiley-Liss, Inc.
 
Key words: Patau syndrome; trisomy 13; recurrent aneuploidy; mosaicism; long-term survival
 

Patau syndrome with a long survival: a case report

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By: A.C. Duarte, A.I.C. Menezes, E.S. Devens, J.M. Roth, G.L. Garcias and M.G. Martino-Roth
Genetics and Molecular Research 3 (2): 288-292 (2004)
 
ABSTRACT
Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.