Prenatal diagnosis and genetic counseling for two pedigrees with pericentric inversion of chromosome 18 / 中华围产医学杂志

Objective To investigate the roles of ultrasound,laboratory methods,and genetic diagnostic techniques in screening and diagnosing fetuses with an unbalanced recombination of chromosome 18[rec(18)] due to parental pericentric inversion,and the relationship between rec(18) fetal phenotypes and their recombinant chromosomes.Methods We analyzed two pedigrees with pericentric inversion of chromosome 18 (including the fetuses and their parents) which received prenatal diagnosis and genetic counseling on March 2017 and March 2018 respectively at Xiamen Maternity and Children Health Care Hospital through karyotype analysis,chromosome microarray analysis(CMA) and fluorescence in situ hybridization (FISH).Literatures were retrieved from Scientific Citation Index,PubMed,China National Knowledge Infrastructure(CNKI) and Wanfang Data from 1970 to June 2018.The genetic counseling records,ultrasound and laboratory findings,pregnancy outcomes of families with pericentric inversion of chromosome 18 in this study and the included literatures were reported and analyzed.Results Non-invasive prenatal testing (NIPT) of one case indicated high risk of fetal trisomy 18 at 22 weeks of gestation.And the imaging examination indicated that fetus had interventricular septal defect and micrognathia at 24+2 weeks.Prenatal diagnosis confirmed that the fetal karyotype was 46,XY,rec(1 8)dup(18q) inv(18)(p1 1.32q12.1) pat,which was originated from his father whose karyotype was 46,XY,inv(1 8)(p1 1.32q12.1).In the other case,serum screening testing indicated high risk of fetal trisomy 18 at 12+3 weeks.Imaging examination indicated that fetus had thickened nuchal translucency at 13+3 weeks and bilateral choroid plexus cysts at 15+6 weeks.Prenatal diagnosis confirmed that the fetal karyotype was 46,XY,rec(18)dup(18q)inv(18) (p11.32q12.1) mat,which was originated from his mother whose karyotype was 46,XX,inv(18)(p11.32q12.1).Among the nine fetuses,including seven from five pedigrees reported in the literature retrieved and two from the two pedigrees we reported,seven showed abnormal soft markers or structures in ultrasound and three of the seven pedigrees had high risk of fetal trisomy 18.Conclusions Ultrasound screening is highly sensitive in detecting rec(18) fetuses,yet the association between ultrasound features and fetal karyotypes is not clear.The combination of multiple genetic analysis methods,including karyotype analysis,CMA and FISH,may be conducive to clarifying the types and sources of complex derived chromosomes.

Prenatal diagnosis of fetal ring chromosome 18 with deletion: a case report / 中华围产医学杂志

We hereby reported a case of ring chromosome 18 complicated by the deletion of 18p11.32p11.31 and 18q21.33q23 diagnosed prenatally by G-banding karyotype and chromosomal microarray analysis (CMA). Ultrasound scan indicated a single umbilical artery and intrauterine growth retardation at the second trimester. The result of G-banding karyotyping was 46, XN, r(18)(p11.3q21.3) and CMA indicated that there was a 3.3 Mb deletion at 18p11.32p11.31 and a 16.9 Mb deletion at 18q21.33q23. All these suggested that the fetus might present with clinical manifestations such as growth retardation, epilepsy, speech delay and growth hormone deficiency after birth, so the couple decided to terminate the pregnancy after genetic counseling.

Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil / Coorte retrospectiva de trissomia do cromossomo 18 (síndrome de Edwards) no sul do Brasil

CONTEXT AND OBJECTIVE:Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18.DESIGN AND SETTING:Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).METHODS:All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis.RESULTS:Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days.CONCLUSIONS:T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.

CONTEXTO E OBJETIVO:A trissomia do cromossomo 18 (T18), ou síndrome de Edwards, é uma doença cromossômica caracterizada por um quadro clínico amplo e prognóstico pobre. Nosso objetivo foi descrever os dados clínicos, radiológicos e de sobrevida de uma coorte de pacientes com diagnóstico pré-natal de T18.TIPO DE ESTUDO E LOCAL:Coorte única retrospectiva no Serviço de Medicina Fetal do Hospital Materno Infantil Presidente Vargas (HMIPV).MÉTODOS:Foram considerados todos os pacientes consecutivos com T18 registrados no Serviço de Medicina Fetal do HMIPV entre janeiro de 2005 e setembro de 2013. Foram coletados os seus dados clínicos, radiológicos e de sobrevida. Foi utilizado o teste de Kaplan-Meier para análise de sobrevida.RESULTADOS:10 pacientes foram diagnosticados com T18, 7 (70%) do sexo feminino. A maioria (90%) foi encaminhada devido a malformações detectadas no ultrassom. A média da idade gestacional na primeira avaliação foi de 25,5 semanas. Ao cariótipo, os defeitos foram considerados múltiplos em apenas 4 pacientes (40%). Todos apresentaram trissomia livre do cromossomo 18. A principal anormalidade observada foi a cardiopatia congênita (n = 7). Morte intraútero ocorreu em metade dos pacientes (50%). Todos os pacientes vivos (n = 5) nasceram através de parto cesáreo, apresentando baixo peso e baixos escores de Apgar. A mediana de sobrevida após o nascimento foi de 18 dias.CONCLUSÕES:A T18 associa-se a risco elevado de morte fetal e neonatal. A maioria dos pacientes apresenta malformações identificadas através do ultrassom, como cardiopatias congênitas, que poderiam auxiliar na sua identificação pré-natal.

Clinical indications and detection efficiency of non-invasive prenatal testing in 13 041 cases from Jiangsu Province, China / 中华围产医学杂志

Objective To determine the clinical indications and detection efficiency of non-invasive prenatal testing (NIPT) in Jiangsu Province, China. Methods A total of 13 041 pregnant women from nine hospitals in Jiangsu Province who voluntarily accepted NIPT for chromosome 13, 18, 21 and sex chromosome from January 1, 2012 to December 31, 2013 were analyzed retrospectively. All cases were singleton pregnancies and spontaneously conceived. Invasive prenatal diagnosis followed by fetal chromosome karyotype analysis was recommended in high-risk women following NIPT. The clinical indications and positive predictive value of NIPT were conducted. Results NIPT detected 88, 19, 9 and 64 cases at high risk for trisomy 21, trisomy 18, trisomy 13 and X chromosome aneuploidy, and the positive rate was 0.67%, 0.15%, 0.07% and 0.49%, respectively. Among the 74, 13, 8 and 44 high-risk cases who accepted chromosome karyotype analysis, respectively, 67 cases were diagnosed with trisomy 21, 12 cases with trisomy 18, one case with trisomy 13, and 18 cases with numerical X chromosome abnormality. The positive predictive value was 90.5% (67/74), 12/13, 1/8 and 40.9% (18/44), respectively. One pregnant woman who was reported as high-risk trisomy 21 following NIPT, but high-risk trisomy 18 at prior serum screening, was eventually diagnosed with fetal trisomy 18 by chromosome karyotype analysis, whose placenta was a mosaic of trisomy 21 and trisomy 18. High-risk following serum screening was the most common indication for NIPT accounting for 46.4% (6 056/13 041), followed by low-risk but asking for testing (28.9%, 3 773/13 041) and advanced age (20.5%, 2 673/13 041). Conclusions High-risk, low-risk but asking for testing and advanced maternal age are common indications for NIPT in Jiangsu Province. The positive predictive value of NIPT for trisomy 21 or trisomy 18 is relatively high, but is much lower for trisomy 13 or X chromosome aneuploidy.

Craniofacial abnormalities among patients with Edwards Syndrome / Anormalidades craniofaciales entre pacientes con sindrome de Edwards / Anormalidades craniofaciais em pacientes com Sindrome de Edwards

OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. .

OBJETIVO Verificar la frecuencia y los tipos de alteraciones craniofaciales observadas en pacientes con trisomía del cromosoma 18 o síndrome de Edwards (SE). MÉTODOS: Estudio descriptivo y retrospectivo de una serie de casos que incluyó a todos los pacientes diagnosticados con SE en un Servicio de Genética Clínica de un hospital de referencia en el sur de Brasil, en el periodo de 1975 a 2008. Los resultados del análisis cariotípico, juntamente con datos clínicos, fueron recogidos a partir de los prontuarios médicos. RESULTADOS: La muestra fue compuesta por 50 pacientes. De estos, el 66% eran del sexo femenino. La mediana de edad en el momento de la primera evaluación fue de 14 días. Respecto a los cariotipos, la trisomía libre del cromosoma 18 fue la alteración principal (90%). Se observó mosaicismo en el 10%. Las principales anormalidades craniofaciales observadas consistieron en microrretrognatia (76%), anormalidades de hélix de las orejas/orejas displásicas (70%), occipital prominente (52%), orejas retrovertidas (46%) y bajo implantadas (44%) y hendiduras palpebrales/blefarofimosis (46%). Otras anormalidades poco comunes, pero relevantes, fueron microtia (18%), hendiduras orofaciales (12%), apéndices preauriculares (10%), parálisis facial (4%), encefalocele (4%), ausencia de conducto auditivo externo (2%) y asimetría facial (2%). Uno de los pacientes presentaba sospecha inicial de espectro óculo-auricular-vertebral (EOAV) o síndrome de Goldenhar. CONCLUSIONES A pesar de la descripción en la literatura de cuadro clínico usualmente característico para la SE, las alteraciones craniofaciales pueden ser variables en esos pacientes. Llaman la atención los hallazgos pertenecientes al EOAV, siendo que la asociación de SE con esa condición se observó en la literatura en un relato de caso. .

OBJETIVO Verificar a frequência e os tipos de alterações craniofaciais observadas em pacientes com trissomia do cromossomo 18 ou síndrome de Edwards (SE). MÉTODOS: Estudo descritivo e retrospectivo de uma série de casos que incluiu todos os pacientes diagnosticados com SE em um Serviço de Genética Clínica de um hospital de referência do sul do país, no período de 1975 a 2008. Os resultados da análise cariotípica, juntamente com dados clínicos, foram coletados a partir dos prontuários médicos. RESULTADOS A amostra foi composta de 50 pacientes. Destes, 66% eram do sexo feminino. A mediana da idade no momento da primeira avaliação foi de 14 dias. Quanto aos cariótipos, a trissomia livre do cromossomo 18 foi a alteração principal (90%). Observou-se mosaicismo em 10%. As principais anormalidades craniofaciais observadas consistiram de microrretrognatia (76%), anormalidades de hélix das orelhas/orelhas displásicas (70%), occipital proeminente (52%), orelhas retrovertidas (46%) e baixo implantadas (44%) e fendas palpebrais pequenas/blefarofimose (46%). Outras anormalidades incomuns, mas relevantes, foram microtia (18%), fendas orofaciais (12%), apêndices pré-auriculares (10%), paralisia facial (4%), encefalocele (4%), ausência de conduto auditivo externo (2%) e assimetria de face (2%). Um dos pacientes apresentava suspeita inicial de espectro óculo-aurículo-vertebral (EOAV) ou síndrome de Goldenhar. CONCLUSÕES Apesar da descrição na literatura de quadro clínico usualmente característico para a SE, as alterações craniofaciais podem ser variáveis nesses pacientes. Chamam atenção os achados pertencentes ao EOAV, sendo que a associação de SE com essa condição foi observada na literatura em um relato de caso. .

Trissomia 18: revisão dos aspectos clínicos, etiológicos, prognósticos e éticos / Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects / Trisomía 18 (síndrome de Edwards): revisión de los aspectos clínicos, etiológicos, pronósticos y éticos

OBJETIVO: Revisar as características clínicas, etiológicas, diagnósticas e prognósticas da trissomia do cromossomo 18 (síndrome de Edwards). FONTES DE DADOS: Foram pesquisados artigos científicos presentes nos portais MedLine, Lilacs e SciELO, utilizando-se os descritores 'trisomy 18' e 'Edwards syndrome'. A pesquisa não se limitou a um período determinado e englobou artigos presentes nestes bancos de dados. SÍNTESE DOS DADOS: A síndrome de Edwards é uma doença caracterizada por um quadro clínico amplo e prognóstico bastante reservado. Há descrição na literatura de mais de 130 anomalias diferentes, as quais podem envolver praticamente todos os órgãos e sistemas. Seus achados são resultantes da presença de três cópias do cromossomo 18. A principal constituição cromossômica observada entre estes pacientes é a trissomia livre do cromossomo 18, que se associa ao fenômeno de não disjunção, especialmente na gametogênese materna. A maioria dos fetos com síndrome de Edwards acaba indo a óbito durante a vida embrionária e fetal. A mediana de sobrevida entre nascidos vivos tem usualmente variado entre 2,5 e 14,5 dias. CONCLUSÕES: O conhecimento do quadro clínico e do prognóstico dos pacientes com a síndrome de Edwards tem grande importância no que diz respeito aos cuidados neonatais e à decisão de instituir ou não tratamentos invasivos. A rapidez na confirmação do diagnóstico é importante para a tomada de decisões referentes às condutas médicas. Muitas vezes, as intervenções são realizadas em condições de emergência, sem muita oportunidade de reflexão ou discussão, e envolvem questões médicas e éticas difíceis.

OBJECTIVE: To review the clinical, etiological, diagnostic, and prognostic characteristics of trisomy 18 (Edwards syndrome). DATA SOURCES: Scientific articles in the MedLine, Lilacs, and SciELO databases were searched using the descriptors 'trisomy 18' and 'Edwards syndrome'. The research was not limited to a specific time period and included all articles in such databases. DATA SYNTHESIS: Edwards syndrome is a disease characterized by a broad clinical picture and a very reserved prognosis. There are descriptions of more than 130 different anomalies, which can involve virtually all organs and systems. Its findings are the result of the presence of three copies of chromosome 18. The main chromosomal constitution observed among these patients is a free trisomy of chromosome 18, which is associated with the phenomenon of nondisjunction, especially in maternal gametogenesis. Most fetuses with Edwards syndrome die during the embryonic and fetal life. The median of survival among live births has usually varied between 2.5 and 14.5 days. CONCLUSIONS: Knowledge on the clinical picture and on the prognosis of Edwards syndrome patients is of great importance regarding the neonatal care and the decisions about invasive treatments. The speed to have a confirmed diagnosis is important for making decisions about medical procedures. Often, interventions are performed under emergency conditions, without many opportunities for discussion, and they involve difficult medical and ethical issues.

OBJETIVO: Revisar las características clínicas, etiológicas, diagnósticas y pronósticas de la trisomía del cromosoma 18 (síndrome de Edwards). FUENTES DE DATOS: Fueron investigados artículos científicos presentes en los portales MedLine, Lilacs y SciELO, utilizando los descriptores "trisomy 18" y "Edwards syndrome". La investigación no se limitó a un periodo determinado y abarcó artículos presentes en estas bases de datos. SÍNTESIS DE LOS DATOS: La síndrome de Edwards es una enfermedad caracterizada por un cuadro clínico amplio y pronóstico bastante reservado. Hay descripción en la literatura de más de 130 anomalías distintas, que pueden implicar a prácticamente todos los órganos y sistemas. Sus hallazgos son resultantes de la presencia de tres copias del cromosoma 18. La principal constitución cromosómica observada entre estos pacientes es la trisomía libre del cromosoma 18, que se asocia al fenómeno de no disyunción, especialmente en la gametogénesis materna. La mayoría de los fetos con síndrome de Edwards evoluciona a óbito durante la vida embrionaria y fetal. La mediana de sobrevida entre los nacidos vivos tiene usualmente variado entre 2,5 y 14,5 días. CONCLUSIONES: El conocimiento del cuadro clínico y del pronóstico de los pacientes con el síndrome de Edwards tiene gran importancia en lo que se refiere a los cuidados neonatales y a la decisión de instituir o no tratamientos invasivos. La rapidez en la confirmación del diagnóstico es importante para la toma de decisiones referentes a las conductas médicas. Muchas veces, las intervenciones son realizadas en condiciones de emergencia, sin muchas oportunidades de reflexión o discusión, e implican cuestiones médicas y éticas difíciles.

Anestesia caudal combinada à anestesia geral para cirurgia abdominal em paciente com Síndrome de Edwards: relato de caso / Combined caudal-general anesthesia for an abdominal procedure in a patient with Edwards?s syndrome: case report

Introdução: a síndrome de Edwards, ou trissomia do 18, é uma anomalia cromossômica rara e frequentemente fatal. Os pacientes que sobrevivem têm múltiplas malformações, que resultam em risco anestésico aumentado, mesmo em cirurgias de menor porte. Objetivo: discutir o uso da anestesia caudal, em associação com anestesia geral, como técnica anestésica e analgésica para cirurgia abdominal em criança portadora de síndrome de Edwards. Relato do caso: criança de 75 dias de idade, 2,9 kg, com diagnóstico de síndrome de Edwards e cardiopatia congênita, foi submetida à correção de refluxo gastroesofágico sob anestesia geral combinada ao bloqueio peridural caudal com bupivacaína 0,125%, morfina e clonidina. A anestesia geral foi mantida com sevoflurano, sem a necessidade do uso endovenoso de opioides. O paciente manteve estabilidade durante todo o procedimento cirúrgico. No final da cirurgia, o anestésico inalatório foi suspenso e a paciente foi extubada na sala de ciurgia após 17 minutos. O pós-operatório foi realizado em centro de terapia intensiva, sem intercorrências e sem a necessidade do uso suplementar de analgésicos. Conclusão: a anestesia geral inalatória combinada com o bloqueio caudal mostrou-se técnica anestésica segura e satisfatória em crianças com síndrome de Edwards.

Introduction: Edwards syndrome or trisomy 18 is a rare and often fatal chromosome abnormality. Patients who survive are dysmorphic with multiple malformations leading to an increase anesthetic risk even during small surgery. Objective: to discuss the use of caudal anesthesia combined with general anesthesia as an anesthetic and analgesic technique for abdominal surgery in a child with Edwards?s syndrome. Case report: a girl with 75-day-old, 2.9 kg, with Edward?s syndrome and congenital heart disease who underwent surgical correction of gastroesophageal reflux with combined caudal-general anaesthesia using 0.125% bupivacaine, morphine and clonidine. General anesthesia was maintained with sevoflurane and no opioid was used. Throughout the procedure, no major changes in the monitored parameters were recorded. At the completion of the procedure, the inhalational agent was discontinued and the patient was extubated in the operating room after 17 min. The postoperative period at the intensive care unit was uneventful and no postoperative analgesics were necessary. Conclusion: inhalatory general anesthesia associated with caudal anesthesia seems to be a good and safe technique in children with Edwards?s syndrome.

Ceratose pilar e ulerythema ophryogenes em mulher com monossomia do braço curto do cromosomo 18 / Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18

A monossomia parcial do braço curto do cromosomo 18 (síndrome do 18p) caracteriza-se, principalmente, por atraso na aquisição da fala, retardo mental leve a moderado e baixa estatura. Relatamos o caso de uma paciente com esta síndrome associada à ceratose pilar extensa e ulerythema ophryogenes. Este é o quarto relato de caso que descreve tal associação, que desperta considerável interesse porque pode revelar uma região candidata a sede de genes responsáveis pela queratinização folicular.

Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by speech delay, mild to moderate mental retardation and short stature. We describe a patient with the 18psyndrome and widespread severe keratosis pilaris and ulerythema ophryogenes. This is the fourth case in which such an association has been reported. This association is of considerable interest because it may uncover a candidate genomic region and help to identify the gene responsible for follicular keratinization.

Prenatal diagnosis of trisomy 18 syndrome with sonogram index scoring system / 中华妇产科杂志

Objective To explore the value of sonogram index scoring system in the prenatal diagnosis of trisomy 18 syndrome.Methods Neonates who had prenatal sonographic screening in our tertiary center were followed up from January 2004 to December 2009.The fetuses who were suspected with abnormalities received karyotype analysis.All fetuses were divided into case group ( trisomy 18 group) and the control group (non-trisomy 18 group).The latter group was constituted of fetuses with trisomy 21,trisomy 13,other chromosomal abnormalitis and fetuses with normal karyotype.Logistic regression analysis was done to decide the individual sonographic features of trisomy 18.A score was assigned for ultrasound markers according to their likelihood ratios for trisomy 18 syndrome.A score of 3 was assigned for the sonographic features with likelihood ratio over 200,2 for those with likelihood ratio between 100 and 200,and 1 for those with likelihood ratio less than 100.The diagnostic efficacy of the ultrasound index scoring system was evaluated by diagnostic test.The optimal cutoff value was determined by receiver operating characteristic (ROC) curve.Results The study group included 59 fetuses with trisomy 18.And 26 486 fetuses did not have trisomy 18 syndrome,including 93 fetuses with trismoy 21,19 fetuses with trisomy 13,134 fetuses with other chromosomal abnormalities,3739 fetuses with normal karyotype and 22 501 fetuses with normal appearance after birth.Two or more structural defects were observed in each trisomy 18 fetus.The highest incidence of sonogram abnormalities was extremities abnormalities (85％,50/59 ),followed by cardiac defects (83％,49/59) and central nervous system (CNS) malformations (75％,44/59).Overlapping fingers,ventricular septal defect and strawberry-shaped skull were the most common abnormalities in extremities abnormalities,cardiac defects and CNS malformations,respectively.Logistic regression identified 16 markers,including choroid plexus cyst,strawberry-shaped skull,enlarged cisterua magna,holoprosencephaly,low-set ears,ventricular septal defect,hypoplastic left heart syndrome,etc.Different scores were assigned according to the likelihood ratios of these markers.In trisomy 18 group,fetuses with the sonographic score of 1,4,9,10 to 16 were 2％ ( 1/59),9％ (5/59),10％ (6/59) and 32％ (19/59) respectively,whereas in non-trisomy 18 group they were 2.549％ (675/26 486),0.215％ (57/26 486),0.004％ ( 1/26 486) and zero,respectively.When a score of 4 was used as the cutoff value for diagnosing fetal trisomy 18,the sensitivity and specificity were 0.966 and 0.997,respectively.The area under ROC curve was 0.999.Conclusions The ultrasound index scoring system may help to quantify the ultrasound features and has a good diagnostic value for fetal trisomy 18 syndrome.The cutoff value of 4 has the best diagnostic efficacy.

Apresentações clínicas não usuais de pacientes portadores de síndrome de Patau e Edwards: um desafio diagnóstico? / Unusual clinical presentations of patients with Patau and Edwards syndromes: a diagnostic challenge?

OBJETIVO: Relatar dois pacientes, um acometido por trissomia do cromossomo 13 em mosaico e outro por trissomia do cromossomo 18, ambos com apresentações clínicas não usuais. DESCRIÇÃO DO CASO: Paciente do sexo feminino de dois meses de idade, que apresentava deficiência de crescimento, dismorfias menores de face e de membros, paresia facial unilateral, cardiopatia congênita, hipotonia e evolução com o surgimento de manchas hipocrômicas e atraso do desenvolvimento neuropsicomotor. O segundo caso é de um paciente do sexo masculino, com 19 dias de vida, que também mostrava deficiência de crescimento, anomalias faciais menores, defeito radial, cardiopatia congênita e hipertonia. Os cariótipos por bandas GTG confirmaram o diagnóstico, respectivamente, de síndromes de Patau e de Edwards. COMENTÁRIOS: Os presentes relatos têm por objetivo alertar os pediatras sobre manifestações não usuais nas trissomias dos cromossomos 13 e 18, as quais podem dificultar a suspeita diagnóstica.

OBJECTIVE: Report two patients, one with trisomy 13 mosaicism and the other with trisomy 18, both with unusual clinical presentations. CASE DESCRIPTION: The first case was a female patient with two months of age who presented growth deficiency, minor dysmorphia of face and limbs, unilateral facial paresis, congenital heart defect and hypotonia, who developed hypochromic spots and neuropsychomotor delay. The second case was a male patient with 19 days of age who also had growth deficiency, minor facial anomalies, radial defect, congenital heart defect and hypertonia. GTG-Banding karyotypes confirmed the diagnosis of Patau and Edwards syndromes respectively. COMMENTS: The aim of these reports is to call attention to the fact that Patau and Edwards syndromes may present an unusual pattern of abnormalities, making the diagnostic hypothesis difficult.

Prenatal diagnosis for trisomy 18——analysis of 9 cases / 中华围产医学杂志

Objective To assess the effectiveness of prenatal screening with maternal serum markers and the sonographic characteristics of the foetus for detecting trisomy 18. Methods Amniotic fluid or the fetal blood samples were obtained and cultured in women with positive results in serum screening (n=36) and with abnormal findings in sonography (n=92) at 18~32 weeks of gestation, and then fetal karyotyping was performed. Results Nine cases of trisomy 18 and 2 cases of other abnormal karyotype were found among the 128 pregnant women (8.59%, 11/128). Four cases were diagnosed as trisomy 18 among the 36 women with positive screening results. The rate of abnormal karyotype among those women with abnormal sonographic findings was 7.61%(7/92,5 cases of trisomy 18 and 2 cases of other abnormal karyotype). Two cases of trisomy 18 had both positive result in screening and abnormality in sonography. Conclusions Prenatal screening for maternal serum markers combined with sonographic examinations for the fetus is effective in detecting foetus with trisomy 18.

Síndrome 18 q -heredado

Se presenta el hallazgo de una monosomía 18q-heredada por translocación materna (3q, 18q), en un niño de 4 años de edad con las características clínicas típicas, que presenta retraso mental y patrón dismórfico facial. Se realizó la correlación fenotipo-cariotipo, y el árbol genealógico de la familia. Se comparan los hallazgos del paciente con otros informados en la literatura médica y se enfatiza en el interés genético del estudio clínico y citogenético de los padres.

It is presented the finding of an 18q-monosomy inherited by maternal translocation (3q, 18q) in a 4-year-old boy with the typical clinical characteristics, that is, mental retardation and facial dysmorphia pattern. The phenotype-karyotype correlation and the pedigree were made. The patient's findings are compared with others reported in the medical literature, and the genetical interest of the clinical and cytogenetic study of the parents is emphasized.