Demographic Factors, Autopsy Findings and Syndrome Diagnosis in Congenital Anomalies with Imperforate Anus

Introduction: Imperforate anus is a relatively rare birth defectin which rectum is malformed. Cases of isolate imperforateanus exist, but most commonly, this condition is found as apart of syndromes and congenital anomalies. Therefore, weconducted a prospective fetal autopsy study to know theassociation of imperforate anus in congenital anomalies,analyse the demographic factors and correctly diagnose thesyndromes.Materials and Methods: Perinatal deaths with congenitalanomalies over a period of 1 year at our institute wereincluded in the study. Standard protocol for autopsy wasfollowed in each case. External examination andanthropometric measurements were carried out. Autopsy wasconducted according to Virchow’s technique by giving amodified “Y” shaped incision starting from below the ears tosymphysis pubis encircling umbilicus on the left side. Boththorax and abdomen were opened. Internal examinationincluding viscera was done and samples were collected forhistopathological examination. Results were noted andanalysed.Results: Out of the 57cases with congenital anomalies, 9cases were found to be associated with imperforate anuswhich included VACTERL anomaly with Prune Belly syndrome,Edward’s syndrome, Fraser syndrome, OEIS complex (2cases), Ellis-Van-Creveld syndrome, TRAP baby andGastroschisis (2 cases).Conclusion: Autopsy has an important role in the diagnosis ofsyndromes and associations with imperforate anus. Our studyalso pointed at the contribution of demographic and maternalrisk factors towards these syndromes.

Síndrome de trisomía 18: reporte de un caso clínico / Trisomy 18 syndrome: a case report

Introducción El síndrome de trisomía 18 (T18) ocurre por la presencia de un cromosoma 18 extra completo en la mayoría de los casos. La prevalencia en recién nacidos oscila entre uno en 6.000 a uno en 8.000. Los afectados tienen una elevada mortalidad, solo el 4% supera el primer año de vida. Son pocos los casos reportados que superan los 5 años. Objetivo El objetivo de este artículo es reportar un caso de T18 de larga sobrevida con características en la cavidad oral no descritas en la literatura, y aportar información a médicos y pediatras sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Reporte de caso Paciente de sexo femenino de 7 años con 2 cariotipos realizados en cultivo de linfocitos que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia del lenguaje verbal, sordera neurosensorial, marcha atáxica, hipoplasia cerebelosa; genitales con labios mayores y menores hipoplásicos. En la cavidad oral paladar en forma de cúpula, macroglosia, no se observaron incisivos centrales superiores y primeros molares superiores e inferiores. En las radiografías se encuentran hallazgos de formación de las piezas dentales ausentes en la boca, concluyéndose erupción tardía. Conclusiones En los casos de T18 la mortalidad in útero y neonatal es alta, las características clínicas in útero y en recién nacidos han sido bien descritas. Dado que son pocos los casos que superan los 5 años el fenotipo aún está por establecerse. En la paciente aquí reportada se encontraron hallazgos en la cavidad oral no descritos en la literatura.

Introduction The trisomy 18 syndrome occurs due to the presence of an extra chromosome 18 in most cases. The prevalence in infants is estimated at 1:6000 to 1:8000. Those affected have a high mortality rate, only 4% may survive their first year of life. There are few reported cases exceeding five years of age. Objective The aim of this paper is to report a case of trisomy 18 of long survival with oral cavity features not described in the literature, and to provide information to physicians and paediatricians about aetiology, phenotype, survival and genetic counselling. Case report A 7 year-old female patient with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. She presented with growth deficiency, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language, sensorineural hearing loss, ataxia, cerebellar hypoplasia, and genitals with hypoplastic labia majora and minora. In the oral cavity: dome shaped palate, macroglossia, absence of upper central incisors and first upper and lower molars in mouth. X-ray findings showed formation of missing teeth, with late eruption being concluded. Conclusions In cases of trisomy 18 syndrome there is an increased risk of neonatal and infant mortality. The clinical characteristics in utero and in neonates have been well described. Since few cases exceeding five years of age have been reported, the phenotype is yet to be established. In the case being reported we describe oral cavity findings not documented in the literature.

Genetic Polymorphisms of STR Loci D18S53, D18S59 and D18S488 in Fetus in Tianjin / 天津医药

Objective To investigate the genetic polymorphisms of 3 short tandem repeat (STR) loci D18S53, D18S59 and D18S488 on chromosome 18 in fetus of Tianjin Han population, and to provide basic data in the use of 3 STR lo-ci in the prenatal diagnosis of Edward syndrome (ES). Methods A total of 64 villus samples and 374 amniotic fluid sam-ples were collected from gravida in Tianjin Han population. QF-PCR and ABI PRISM 377 sequence were used in this study. The frequencies of the genotypes were tested with H-W equilibrium. Genetic analysis was performed to conclude some data of population genetics such as the frequency of the alleles, the heterozygosity of observation (Ho), the polymorphism informa-tion content (PIC), the probability of discrimination power (DP), and the probability of exclusion (PE). Results The 15, 13 and 15 alleles of D18S53, D18S59 and D18S488 were observed respectively. The frequencies of the genotypes were in good agreement with H-W equilibrium. The Ho of 3 STR loci were 0.797, 0.847 and 0.792. The PIC was 0.81, 0.75 and 0.73. The DP was 0.944, 0.901 and 0.881. The PE was 0.593, 0.689 and 0.585. Conclusion D18S53, D18S59 and D18S488 STR lo-ci were the favorable genetic markers of chromosome 18, which can be used in prenatal genetic diagnosis of ES.

Edward’s syndrome with a novel karyotype.

Edward’s syndrome was first described as a clinical entity in 1960 as a disorder of trisomy 18 (47 XX/XY; + 18) in babies with particular pattern of malformations. The Karyotype found in our case was (47 XX + 18 add (22) (p13) which has not been published so far in the literature. The less common findings noted in the baby were rocker bottom feet, syndactyly of 2nd and 3rd toes, microcephaly and corneal opacities. Though we didn’t find any significant association between phenotypic ranges with genotypic variation in literature, but further research is needed for it. We are reporting this case as the genotype is found to be novel.

Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization:Clinical experience with 309 cases

PURPOSE: The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis METHODS: A retrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results were compared with conventional cytogenetic karyotypings. RESULTS: The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. CONCLUSION: FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome- wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

TRISOMY 18 in a 50-year-old female.

She was brought to our Institute at the age of 31, with speech delay and mental handicap. She was assessed by the multidisciplinary team in the institute to determine the cause of her problems. Clinical evaluation revealed dysmorphic facial features, microbrachycephaly, camptodactyly, clinodactyly, abnormal dermatoglyphics and severe mental handicap. Cardiovascular system examination was normal. Chromosomal analysis revealed a trisomy of Chromosome 18. The phenotype of trisomy 18 and the rarity of prolonged survival in this case are discussed.

Anesthetic Management of a Patient with Edward's Syndrome: A case report / 대한마취과학회지

Edward's syndrome (trisomy 18) is the second most common chromosomal anomaly next to Down syndrome. The patients are dysmorphic, have multiple organ malformation which is made to die with 90% by 12 months. Information in the literature about anesthetic management in trisomy 18 is rare. We report the case of a 7 months old male with trisomy 18 who underwent inguinal hernioplaty and orchiopexy with general anesthesia.

A Case of Edward Syndrome with Choroid Plexus Cyst / 대한산부인과학회잡지

Trisomy 18 is the second most common chromosomal anomaly which reach to live birth next to Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels of total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol or free beta hCG with AFP, but the serum screening has only 67% detection rate with a 7.2% of false positive rate. Therefore, in order to overcome the limitations which the serum markers have, detailed ultrasound examination is also necessary and sensitivity of 80% was reported. We report a case of Trisomy 18 fetus in which choroid plexus cyst was the only abnormal sonographic finding.

A case of Full Term Delivery of a Edward Syndrome Associated with Dandy-Walker Syndrome subsequent to Prenatal Diagnosis / 대한산부인과학회잡지

Dandy-Walker syndrome indicates the association of cystic dilatation of fourth ventricle, dysgenesis of the cerebellar vermis and a high position of the tentorium. Dandy-Walker syndrome has an estimated prevalence of about 1 in 30,000 births and is found in 4% to 12% of all cases of infantile hydrocephalus. And trisomy 18 was present in 4.8% of the Dandy-Walker syndrome. Trisomy 18 is a chromosomal aneuploid, which results in multiple severe structural abnormalities that mostly involve the heart, extremities, face, and brain. We experienced a case of Edward syndrome associated with Dandy-Walker syndrome. She did not want to terminate her pregnancy. So, we reviewed a Edward syndrome with Dandy-Walker syndrome and presented the final result in full term delivery.

A Case of Edward Syndrome / 대한산부인과학회잡지

Trisomy 18, called Edward syndrome, occurs in about 3500-8000 births. It is much more common at conception, with about 95% of cases resulting in spontaneous abortion or stillbirth. Postnatal survival is poor, with the majority of patients dying in early infancy. Characteristic findings include cardiac malformations, mental retardation, growth retardation, a prominent occiput, micrognathia, clenched hands, and rocker-bottom feet, omphalocele. The prenatal sonographic findings of our case include delayed growth, omphalocele, wrist joint fixation, choroid plexus cyst, hydramnios and postnatal gross findings include growth retardation, omphalocele, wirst joint fixation, absence of radius, syndactyly, focal absence of phalanges and flexion deformities of fingers and toes. We report a case of prenatally diagnosed Edward syndrome, which is confirmed by chromosome analysis, with brief review of related literatures.

A case of Edward syndrome with radius aplasia / 대한산부인과학회잡지

Trisomy 18 is the second most common chromosomal anomaly that reach to live birth after Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels using total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol (uE3), or free beta hCG with AFP, but the serum screening has only 50-60% detection rate with a 1-2% of false positive rate. So to cover the limitations that serum marker has, detailed ultrasound examination is also necessary and sensitivities of 65-70% were reported. We report a case of trisomy 18 fetus in which second trimester triple markers of maternal serum was normal, but by detailed ultrasound examination, unilateral radius aplasia was diagnosed cytogenetic study confirmed the fetus as trisomy 18.

Review of Prenatal Sonographic findings in Edward syndrome / 대한산부인과학회잡지

PURPOSE: The purpose is to aid in the diagnosis and obstetric management by analysing the ultrasonographic findings of prenatally diagnosed Edward syndrome. METHOD: The study population consisted of 15 cases prenatally diagnosed Edward syndrome from January 1993 to January 1999. The medical charts and ultrasonographic findings were reviewed retrospectively, and especially the ultrasonographic findings before prenatal genetic diagnosis were anlyzed. RESULTS: All of the 15 cases reviewed showed at least one ultrasonographic finding suggesting Edward syndrome. In the first trimester, 2 cases revealed cystic hygroma and increased nuchal translucency, and after the second trimester, major structural anomalies including congenital heart anomalies and minor ultrasonographic findings such as choroid plexus cyst were noted. All of cases after 21 weeks of gestation showed congenital heart anomaly, and as the pregnancy progressed there was an increased tendency of intrauterine growth restriction and polyhydramnios. CONCLUSION: Prenatal ultrasonography in the screening process of Edward syndrome can be placed as a very informative method, as all of the Edward syndrome cases revealed at least one abnormal ultrasonographic findings. As congenital heart anomalies were found in all of the cases after 21 weeks of gestation, fetal echocardiography should be considered in evaluating suspected cases of Edward syndrome.

Detection of Down Syndrome & Edward Syndrome in uncultured amniocytes using FISH ( Fluorescence In Situ Hybridization / 대한산부인과학회잡지

FISH is suggested as a possible method to detect the numerical and structural abnormalities of chromosomes in interphase nucleus. We performed this study to discuss the clinical usefulness of FISH in uncultured amniocytes and to set up the cut-off value for further study. We collected amniotic fluid samples from patients whose chromosome studies were recommended due to screen positive for Down and Edword syndrome in triple marker test using maternal serum. The centromeric probe for chromosome 18 and the locus-specific probe for chromosome 21 were used and the results were compared to their karyotypes. We could find 2 cases of trisony 21 and 2 cases of trisony 18 and the other cases represented normal karyotypes. The accuracies were 91% for disomy 18, 89% for trisomy 18, 92% for disomy 21 and 88% for trisomy 21. Therefore FISH technique is a possible method to detect the chromosomal abnormalities in uncultured amniocytes and the use of locus-specific probe for chromosome 21 would be more useful for detecting the aneuploidy of chromosome 21 than 13/21 centromeric probe.

Two cases of Edward syndrome

No abstract available.

A Case of Trisomy Syndrome

We have seen a case of Edward syndrome in a new born neonate who was born at local obstetrics clinics to a healthy 27 years old mother. Just after birth, she was transfered to us and brought to emergency room, because of dyspnea and abnormal apperance, characterized by prominent occiput low set malformed ear, micrognathia, webbed neck, short sternum, small hip and bilaterally abducted index and 3rd fingers flexed upon with semian lines. She also had small sized great toes with mild dorsiflex bilaterally. There was cardiomegaly as shown on chest AP and EKG, as well as a Grade III/IV systolic murmmer on auscultation. There was however, no specific bnormalities on IVP. Chromosomal studies showed the presence of third chromosome in No. 18 chromosome resulting in a total of 47 chromosomes for this patient. A review of literature is made briefly.