Cartas da História (Parte 4)

Parte 4
14/11/2011 - A segunda descoberta


Queridos amigos/irmãos,

Antes de qualquer coisa, MUITO obrigado a cada um de vocês que conversou com Deus sobre a situação que temos passado. Sabemos que há muitas situações que julgamos serem insuportáveis para pessoas como nós... Sabemos que Deus não nos faria passar por situações que realmente não aguentaríamos. No entanto, as notícias que tenho para lhes dizer não são boas de nossa ótica.

Hoje de manhã a Nina passou por mais um exame: Ecocardiograma fetal; acho que este era o nome. A médica, especialista no assunto, visualizou o ventrículo direito do coração de Nina numa proporção muito maior que o normal. Isso sugere algumas coisas que somente serão possíveis de se ter certeza com o acompanhamento do quadro e mais exames. Um deles genético. Segundo a médica, a pior situação que este quadro indica é a síndrome de turner, que atinge somente o gênero feminino.

Obviamente que mais uma vez ficamos tristes e choramos. Pedimos perdão a Deus por algumas negligências e clamamos por sua misericórdia nesta situação. Espero que em toda esta situação nós sejamos fiéis - esta é uma das minhas orações.

Por favor, ore. Que o nome de Jesus Cristo seja exaltado, sempre! Que nós sejamos feitos pequenos... Contamos com vocês, precisamos de vocês!

Na graça do Criador.

Cartas da História (Parte 3)

Parte 3
10/11/2011 - A primeira descoberta


Olá,
é sempre muito gostoso enviar notícias alegres, mas sei que posso igualmente contar com vocês quando nossos corações estão partidos.

"Ao passar, Jesus viu um cego de nascença. Seus discípulos lhe perguntaram: "Mestre, quem pecou: este homem ou seus pais, para que ele nascesse cego?" Disse Jesus: "Nem ele nem seus pais pecaram, mas isto aconteceu para que a obra de Deus se manifestasse na vida dele." (Jo 9.1-3)

Ontem descobrimos, através do exame de ultrassom, que nossa pequenina e já amada Nina possivelmente nascerá com lábio leporino (fissura labiopalatal). Digo possivelmente porque creio que Deus é capaz de curá-la, apesar de tão pouca fé que tenho. Por isso oro para que Deus me dê mais fé e possa me usar para que seu Reino cresça e seja tão presente que ninguém poderá contestar sua existência. A cura do cego de nascença tinha o propósito de glorificar a Jesus Cristo.

Esta manhã derramei muitas lágrimas... Deus nunca nos desapontou, nem mesmo agora. Sei que isso tem seu propósito e que vai muito além da vida de cada membro de minha família. Aliás, Deus nunca me desapontará, tenho absoluta certeza disso. Chorei porque já fui confortado por vários queridos irmãos. Chorei em clamor, para que Deus me dê discernimento nas palavras e forma que quero expressar minha tristeza e alegria. Chorei porque sou impotente... Chorei porque posso contar com um maravilhoso Deus, que nos deu uma família que, apesar de ser com pessoas de corações incapazes de louvar o Senhor, ela tem sido transformada pelo poder de Deus para as boas obras. Isso inclui o carinho que temos recebidos desta divina família. Agradeço a Deus. Agradeço a vocês.

Além de compartilhar isso, preciso que orem conosco:

• Precisamos pensar direitinho sobre o nascimento de Nina. Segunda uma opinião do médico que fez a ultrassonografia, Campinas seria melhor do que aqui;
• Queremos ter um coração disposto a depender do Senhor, mas não queremos negligenciar o que cabe a nós buscarmos;
• Em dezembro estaremos em Campinas. Precisaremos de sabedoria para planejar bem os próximos meses e nossos afazeres com a Juvep.

Abraços a todos. Obrigado, MUITO OBRIGADO, pelo carinho.

Que nossa filha seja instrumento de Deus para a glória do único digno de louvor, o Senhor Jesus Cristo, o caminho, a verdade e a vida.

Cartas da História (Parte 2)

Parte 2
13/10/2011 - É uma menina!

Olá pessoal,

há algum tempo eu não lhes escrevo, desculpe-me. Somente pra garantir que todos entenderam o título do e-mail... Sim, teremos uma menininha e ela já tem nome: NINA! Acreditamos que ela sairá da mamãe no final de fevereiro.

(...)

Graças a Deus, a Karen e o Enzo estão muito bem. Depois de meses com enjoo sem cessar, a Karen agora sente o mal estar algumas poucas vezes por semana. Agradecemos a Deus porque pessoas têm demonstrado grande amor por todos nós. Estamos cercados de bons profissionais na área médica e, respondendo para alguns de nossos irmãos, sim, teremos a Nina aqui na Paraíba. :)

(...)
Pedido de oração: para que a gravidez seja tranquila, tanto para a Karen, quanto para a Nina.

Cartas da história (Introdução e parte 1)

Introdução

Já há algum tempo que tenho o desejo de compartilhar com mais detalhes sobre a história de Nina. Acredito que isso poderá, de algumas formas, ajudar aqueles que procuram respostas, sejam elas cognitivas, emocionais ou até mesmo espirituais.

Por isso, debaixo do marcador "Cartas da História," colocarei as cartas que nós enviamos para nossos amigos e irmãos em Cristo. Que o Propósito de Deus seja cumprido, nunca o meu.

Parte 1
29/06/2011 - Notícia da Gravidez

Queridos,

É com imenso prazer que escrevemos para dizer que estamos grávidos! Descobrimos hoje através de um exame de sangue e louvamos a Deus pelo presente. Orem para que possamos passar por essa fase, como todas as outras de nossas vidas, debaixo da dependência do único Deus, que é bondoso demais! Por causa de Jesus, único nome digno de louvor,

Zambellis

Parents of Severely Disabled Kids Say They Enrich Their Lives

By Jenifer Goodwin

HealthDay Reporter

Filed Under: Birth Defects / Misc. | Child Development | Computers, Internet / Misc. | Family | Genetic Disorders | Grief | Infant, Child Care | Parenting | Support Groups

Posted: Monday, July 23, 2012, 10:42 AM

MONDAY, July 23 (HealthDay News) -- When Vanessa Hernandez's sixth child was born, she knew right away her daughter was different.

Hernandez's pediatrician wept as she told her the diagnosis. The baby had trisomy 13, a devastating chromosomal abnormality. Most children die before their first birthday and have serious mental and physical disabilities, including heart and breathing problems.

Hernandez's daughter, now 19 months old, hasn't had an easy time. She's had seizures, has a tracheotomy to assist her with breathing and has been fed mostly through a feeding tube.

Despite the hurdles, Isabel is a source of great joy to her family, Hernandez said. Isabel smiles and laughs frequently, and there are no indications she is in pain. Her parents celebrate small achievements. Isabel's five siblings love her fiercely. "She gets the most love in the house. They are very protective of her. Nobody leaves the room without giving her a hug and a kiss," Hernandez said.

Though many people believe that raising child with severe birth defects would be more than they could bear, many parents of children with severe disabilities say that couldn't be further from the truth.

In a new study, nearly all -- 97 percent -- of 332 parents of children with trisomy 13 or trisomy 18, another chromosomal abnormality that can cause similarly severe problems and shortened lifespans, described their child as "happy." Parents also said that no matter how short their lives, their child enriched their family.

"Despite the fact that often these children live less than a year and they are disabled, families find they are happy children. They find joy in their children. They enrich the family, enrich the couple and the child's life had meaning," said study author Dr. Annie Janvier, an associate professor of pediatrics and clinical ethics at University of Montreal. "None of the parents said they regretted not terminating the pregnancy. None said the life was unworthy of living. All of the parents reported the quality of life of their child was a good quality of life."

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Children With Trisomy 13 And 18 Are Happy Despite Popular Beliefs

By Petra Rattue

Main Category: Pediatrics / Children's Health
Also Included In: Psychology / Psychiatry
Article Date: 24 Jul 2012 - 15:00 PDT

Trisomies 13 and 18 are rare chromosome disorders, which are predominantly diagnosed prior to a child's birth and sometimes after. Children with trisomy 13 or 18 generally do not survive beyond their first year of life, and those who do are severely disabled and only live a short life. When diagnosed before birth, parents often decide to have an abortion, whilst those who continue the pregnancy often have a miscarriage.

A study of parent members of a trisomy 13 or 18 children support group has now revealed that although these mostly severely disabled children only have a very short life expectancy, their families nevertheless lead an overall happy and rewarding life, contrary to the medical profession's common gloomy predictions at the time of diagnosis.

The study, published in Pediatrics was conducted by Dr. Annie Janvier of the Sainte-Justine University Hospital Center and the University of Montreal with special collaboration of the study's second author, Barbara Farlow, Eng, MSc who is the mother of a child who died from trisomy 13. Both experts sometimes give joint talks on the subject of trisomies 13 and 18.

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Linda canção: "Down the Road of Bittersweet"

Por Karl Kolhhase

Riscos do aborto

Riscos imediatos do aborto

Veja este post no novo site: http://ninaminhafilha.com/2012/12/29/riscos-do-aborto/

Anencefalia: a convicta decisão de um casal

Que este vídeo contribua positivamente para seu conhecimento e decisão sobre esta delicada e real situação.

Diário da gestação de um bebê com anencefalia

Vídeo com imagens da gestação, nascimento e sepultamento de Esther, que teve anencefalia e viveu 40 minutos após o nascimento, com 36 semanas. Após viver a experiência da gestação de um bebê com anencefalia, Quésia, que é obstetra, escreveu um livro: Os últimos quatro meses: diário da gestação de um bebê com anencefalia, onde conta como foram seus dias desde o diagnóstico até o nascimento da sua primeira filha.

Conheça o site: http://www.osultimosquatromeses.com.br e adquira o livro dessa história.

Gratidão e Consagração

NINA e ENZO (meus filhos) são as palavras que o vovô Wado usou para criar este poema em acróstico.

Gratidão e Consagração
Oswaldo Carreiro

Nunca meus lábios cessarão de cantar
Inspiração Tua graça me dá
No Teu amor estou sempre amparado
A Ti a honra, glória e louvor!

És para mim a razão de viver
Nada é melhor que a Ti pertencer
Zelo e temor têm meus pés bem firmados
Onde estiver sou todo teu Senhor!

Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome – Review of 5 cases

Vasilica PLAIASUa, MD; Diana OCHIANAa, biol.; Gabriela MOTEIa, biol.; Ioana ANCAb, MD, PhD; Adrian GEORGESCUb, MD, PhD
aGenetics Department, IOMC “Alfred Rusescu”, Bucharest, Romania bPediatrics Department, “Carol Davila” University of Medicine and Pharmacy, IOMC “Alfred Rusescu”, Bucharest, Romania

Resumo / Abstract

Introduction: Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Materials and methods: In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). Discussion: All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. Conclusion: The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

Keywords: trisomy 13, Patau syndrome, polydactyly, cleft palate, microphthalmia, genetics

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Patau syndrome with long survival in a case of unusual mosaic trisomy 13

Giuseppina Fogu a,*, Emanuela Maserati b, Francesca Cambosu a, Maria Antonietta Moro a, Fausto Poddie a, Giovanna Soro a, Pasquale Bandiera c, Gigliola Serra d, Gianni Tusacciu d, Giuseppina Sanna d, Vittorio Mazzarello c, Andrea Montella c
a Clinical Genetics, Department of Biomedical Sciences, University of Sassari, viale San Pietro,
43/C, 07100 Sassari, Italy
b Department of Experimental and Clinical Biomedical Sciences, University of Insubria, Varese, Italy
c Anatomy and Histology Division, Department of Biomedical Sciences, University of Sassari, Italy
d Institute of Child Neuropsychiatry, University of Sassari, Italy

Received 21 January 2008; accepted 27 March 2008
Available online 9 April 2008

Abstract / Resumo
We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth,
one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported. 2008 Elsevier Masson SAS. All rights reserved.

Keywords: Patau syndrome; Trisomy 13; Mosaicism; FISH; Phylloid hypomelanosis

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Persistent congenital milia involving the skin of the whole body in an infant with trisomy 13 syndrome

Abstract / Resumo

Milia are tiny pearly-white cysts on the surface of the skin. In newborns, milia are usually located around the nose and eyes and generally disappear after the first several weeks of life. Trisomy 13 is a severe chromosomal disorder, with various complications. Here, we report a case of a 9-month-old female infant with trisomy 13 who had persistent congenital milia covering her entire body surface.

Multiple pearly-white cysts measuring 1 to 2 mm in diameter on: (A) back; and (B) pudendum.

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Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

Chih-Ping Chen1,2,3,4,5,6*
1Department of Obstetrics and Gynecology and 2Medical Research, Mackay Memorial Hospital, Taipei, 3Department of Biotechnology, Asia University, 4School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, 5Institute of Clinical and Community Health Nursing and 6Department of Obstetrics and Gynecology, National Yang-Ming University, Taipei, Taiwan.

Resumo / Summary

Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13. [Taiwan J Obstet Gynecol 2010;49(1):13–22]

Key Words: confined placental mosaicism, mosaicism, phylloid hypomelanosis, prenatal diagnosis, trisomy 13

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

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

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

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

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Trisomy 13 (Patau Syndrome) and Craniosynostosis

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.

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Dia inesquecível - 09/Março/2012

Dia 09/03/2012 foi um dia inesquecível. Em primeiro lugar, porque era o aniversário de meu primeiro filho, Enzo. Em segundo e não menos importante, porque foi o dia em que Deus atendeu a um de meus pedidos: trazer Nina do hospital para casa.

Neste dia não celebramos somente a manutenção de Deus por mais um ano de vida completo de Enzo. Celebramos também o carinho e amor de Deus, que nos proporcionou dias maravilhosos com Nina em casa. Este foi somente o primeiro daqueles dias. Obrigado Jesus Cristo!

Nunca perca as esperanças

Uma história de inspiração sobre Kingston James, um lindo menino que nasceu com trissomia do cromossomo 13. Disseram a seus pais que ele não viveria mais que um mês. Milhares de pessoas no mundo todo tem orado por ele, por um milagre. Ele comemorou seu primeiro ano de vida em 27 de agosto de 2011.

A música que acompanha o vídeo é "Never give up hope", escrita por Victor Whitmore, pai de Kingston.