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Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated hypogonadotropic hypogonadism, central diabetes insipidus, vertebral anomalies, eye anomalies, and cardiac malformations. Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1-related disorders such as Hartsfield syndrome, hypogonadotropic hypogonadism with or without anosmia, Jackson-Weiss syndrome, osteoglophonic dysplasia, Pfeiffer syndrome, and trigonocephaly Type 1. Here, we report three patients with Hartsfield syndrome from two unrelated families. Exome sequencing revealed two siblings harboring a novel de novo heterozygous synonymous variant c.1029G>A, p.Ala343Ala causing a cryptic splice donor site in exon 8 of FGFR1 likely due to gonadal mosaicism in one parent. The third case was a sporadic patient with a novel de novo heterozygous missense variant c.1868A>G, p.(Asp623Gly).
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Fenda Labial/diagnóstico , Fenda Labial/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Dedos/anormalidades , Estudos de Associação Genética , Predisposição Genética para Doença , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Holoprosencefalia/diagnóstico , Holoprosencefalia/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Mutação de Sentido Incorreto , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Mutação Silenciosa , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética/métodos , Humanos , Masculino , Linhagem , FenótipoRESUMO
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (cohort 1, n = 562; cohort 2, n = 387), 603 with CHDs (cohort 1, n = 363; cohort 2, n = 240) and 346 with normal cardiac anatomy (cohort 1, n = 199; cohort 2, n = 147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p = 3.12 × 10(-3), two-tailed Fisher's exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30 × 10(-2), two-tailed Fisher's exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68 × 10(-4), two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS.
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Variações do Número de Cópias de DNA/genética , Síndrome de DiGeorge/genética , Transportador de Glucose Tipo 3/genética , Cardiopatias Congênitas/genética , Adulto , Aorta Torácica/fisiopatologia , Síndrome de DiGeorge/fisiopatologia , Feminino , Genótipo , Cardiopatias Congênitas/fisiopatologia , Humanos , Masculino , Polimorfismo de Nucleotídeo ÚnicoRESUMO
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60-75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic arch defect. The etiology of the cardiac phenotypic variability is not currently known for the majority of patients. We hypothesized that rare copy number variants (CNVs) outside the 22q11.2 deleted region may modify the risk of being born with a CHD in this sensitized population. Rare CNV analysis was performed using Affymetrix SNP Array 6.0 data from 946 22q11DS subjects with CHDs (n = 607) or with normal cardiac anatomy (n = 339). Although there was no significant difference in the overall burden of rare CNVs, an overabundance of CNVs affecting cardiac-related genes was detected in 22q11DS individuals with CHDs. When the rare CNVs were examined with regard to gene interactions, specific cardiac networks, such as Wnt signaling, appear to be overrepresented in 22q11DS CHD cases but not 22q11DS controls with a normal heart. Collectively, these data suggest that CNVs outside the 22q11.2 region may contain genes that modify risk for CHDs in some 22q11DS patients.
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Variações do Número de Cópias de DNA , Síndrome de DiGeorge/genética , Cardiopatias Congênitas/genética , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/diagnóstico , Técnicas de Genotipagem , Cardiopatias Congênitas/diagnóstico , HumanosRESUMO
In the original publication [...].
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Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in social communication and repetitive behavior. Although the etiology of ASD is heterogeneous, with many genes involved, a crucial role is believed to be played by copy number variants (CNVs). The present study examines the role of copy number variation in the development of isolated ASD, or ASD with additional clinical features, among a group of 180 patients ranging in age from two years and four months to 17 years and nine months. Samples were taken and subjected to array-based comparative genomic hybridization (aCGH), the gold standard in detecting gains or losses in the genome, using a 4 × 180 CytoSure Autism Research Array, with a resolution of around 75 kb. The results indicated the presence of nine pathogenic and six likely pathogenic imbalances, and 20 variants of uncertain significance (VUSs) among the group. Relevant variants were more prevalent in patients with ASD and additional clinical features. Twelve of the detected variants, four of which were probably pathogenic, would not have been identified using the routine 8 × 60 k microarray. These results confirm the value of microarrays in ASD diagnostics and highlight the need for dedicated tools.
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Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in "lethal regions". Our results contribute to a better understanding of the clinical and genetic aspects of OI.
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Colágeno Tipo I , Osteogênese Imperfeita , Humanos , Colágeno Tipo I/genética , Osteogênese Imperfeita/genética , Polônia/epidemiologia , Cadeia alfa 1 do Colágeno Tipo I , Mutação , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patients with the recurrent deletion. To examine the presence of additional variants affecting the phenotype, we performed microarray in 82 prenatal and 77 postnatal cases and performed exome sequencing in 86 postnatal patients with 22q11.2DS. Within those 159 patients where array was performed, 5 pathogenic and 5 likely pathogenic CNVs were identified outside of the 22q11.2 region. This indicates that in 6.3% cases, additional CNVs most likely contribute to the clinical presentation. Additionally, exome sequencing in 86 patients revealed 3 pathogenic (3.49%) and 5 likely pathogenic (5.81%) SNVs and small CNV. These results show that the extension of diagnostics with genome-wide methods can reveal other clinically relevant changes in patients with 22q11 deletion syndrome.
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Síndrome de DiGeorge , Humanos , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/complicações , Fenótipo , Análise em MicrossériesRESUMO
The most common form of inherited lipid disorders is familial hypercholesterolemia (FH). It is characterized primarily by high concentrations of the clinical triad of low-density lipoprotein cholesterol, tendon xanthomas and premature CVD. The well-known genetic background are mutations in LDLR, APOB and PCSK9 gene. Causative mutations can be found in 60−80% of definite FH patients and 20−30% of those with possible FH. Their occurrence could be attributed to the activity of minor candidate genes, whose causal mechanism has not been fully discovered. The aim of the conducted study was to identify disease-causing mutations in FH-related and candidate genes in pediatric patients from Poland using next generation sequencing (NGS). An NGS custom panel was designed to cover 21 causative and candidate genes linked to primary dyslipidemia. Recruitment was performed using Simon Broome diagnostic criteria. Targeted next generation sequencing was performed on a MiniSeq sequencer (Illumina, San Diego, CA, USA) using a 2 × 150 bp paired-end read module. Sequencing data analysis revealed pathogenic and possibly pathogenic variants in 33 out of 57 studied children. The affected genes were LDLR, APOB, ABCG5 and LPL. A novel pathogenic 7bp frameshift deletion c.373_379delCAGTTCG in the exon 4 of the LDLR gene was found. Our findings are the first to identify the c.373_379delCAGTTCG mutation in the LDLR gene. Furthermore, the double heterozygous carrier of frameshift insertion c.2416dupG in the LDLR gene and missense variant c.10708C>T in the APOB gene was identified. The c.2416dupG variant was defined as pathogenic, as confirmed by its cosegregation with hypercholesterolemia in the proband's family. Although the APOB c.10708C>T variant was previously detected in hypercholesterolemic patients, our data seem to demonstrate no clinical impact. Two missense variants in the LPL gene associated with elevated triglyceride plasma level (c.106G>A and c.953A>G) were also identified. The custom NGS panel proved to be an effective research tool for identifying new causative aberrations in a genetically heterogeneous disease as familial hypercholesterolemia (FH). Our findings expand the spectrum of variants associated with the FH loci and will be of value in genetic counseling among patients with the disease.
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Hiperlipoproteinemia Tipo II , Pró-Proteína Convertase 9 , Apolipoproteínas B/genética , Criança , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hiperlipoproteinemia Tipo II/genética , Fenótipo , Pró-Proteína Convertase 9/genética , Receptores de LDL/genéticaRESUMO
Introduction: Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. We aimed to determine the prevalence, mechanism, and genetic background of autoimmunity, immune deficiency, and allergy in a cohort of patients with 18q deletions. Material and Methods: Medical registries and social media were used to recruit the patients. Microarray oligonucleotide comparative genomic hybridization (aCGH) (Agilent, Santa Clara, CA, USA) was performed in all patients to identify size and location of chromosome 18 deletion. Clinical evaluation and medical record collection were performed in each of the study participants. The history of autoimmune disorders, severe and/or recurrent infections, and symptoms of allergy were noted. Total immunoglobulin IgG, IgA, IgM, IgE, and IgG1-4 serum levels were measured using nephelometry and ELISA methods. Lymphocyte T subset phenotyping was performed in 24 subjects from 18q del cohort. To predict the most promising candidate genes, we used the ENDEAVOUR-a free web resource for gene prioritization. Results: 18q deletion was confirmed by means of array CGH analysis in 27 individuals, 15 (55.6%) females and 12 males, referred to the project by specialists in medical genetics, diabetology, or pediatric endocrinology between May 2015 and December 2019. The mean age at examination was 11.8 years (min-max: 4.0-33.5). Autoimmune disorders were present in 14/27 (51.8%) of the cohort. In eight of patients, symptoms of immune deficiency coexisted with autoimmunity. Allergy was reported in nine of 27 (33.4%) patients. Over 89% of patients presented with at list one type of immunoglobulin (IgA, IgM, IgG, IgE, and IgG1-4) deficiency and eight of 25 (32%) had abnormalities in at least two major immunoglobulin (IgG, IgA, IgM) measurements (CVID-like phenotype). Patients with 18q del exhibited a significantly decreased CD4, Treg FOXP3+, TregFOXP3+Helios+, and TemCD4 cell numbers in comparison with the control groups of 24 T1DM patients and 28 healthy controls. Conclusions: Patients with 18q deletions frequently suffer from autoimmune disorders, recurrent infections, and allergy due to immune dysregulation presenting with variable antibody deficiencies and T-regulatory cell deficiency (CD4+CD25+CD127lowFOXP3+). The spectrum of speculations regarding which gene might be responsible for such phenotype ranges from single gene haploinsufficiency to deletion of a cluster of immunogenes located distally to 18q21.
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Autoimunidade/genética , Transtornos Cromossômicos/imunologia , Hipersensibilidade/genética , Síndromes de Imunodeficiência/genética , Adolescente , Adulto , Autoimunidade/imunologia , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 18/imunologia , Estudos de Coortes , Feminino , Humanos , Hipersensibilidade/imunologia , Síndromes de Imunodeficiência/imunologia , Masculino , Adulto JovemRESUMO
The aim of our study is to introduce a larger number of doctors to the subject of lentigines. They may be a first syndrome coexistent with very rare multiple organ defects as syndrome Peutz-Jeghers, LEOPARD, LAMB and Carney syndrome.
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Lentigo/diagnóstico , Diagnóstico Diferencial , Humanos , Síndrome LEOPARD/diagnóstico , Lentigo/classificação , Síndrome de Peutz-Jeghers/diagnóstico , SíndromeRESUMO
Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual genomes were interrogated for single-nucleotide variants (SNV) and copy number variants (CNV) with whole-exome sequencing and chromosomal microarray studies. Variation affecting known MCDs-associated genes was found in 16/54 cases, including 11 patients with SNV, 2 patients with CNV, and 3 patients with both CNV and SNV, at distinct loci. Diagnostic pathogenic SNV and potentially damaging variants of unknown significance (VUS) were identified in two groups of seven individuals each. We demonstrated that de novo variants are important among patients with MCDs as they were identified in 10/16 individuals with a molecular diagnosis. Three patients showed changes in known MCDs genes and a clinical phenotype beyond the usual characteristics observed, i.e., phenotypic expansion, for a particular known disease gene clinical entity. We also discovered 2 likely candidate genes, CDH4, and ASTN1, with human and animal studies supporting their roles in brain development, and 5 potential candidate genes. Our findings emphasize genetic heterogeneity of MCDs disorders and postulate potential novel candidate genes involved in cerebral cortical development.
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Variações do Número de Cópias de DNA , Exoma , Malformações do Desenvolvimento Cortical/genética , Polimorfismo de Nucleotídeo Único , Caderinas/genética , Feminino , Heterogeneidade Genética , Humanos , Masculino , Malformações do Desenvolvimento Cortical/patologia , Proteínas do Tecido Nervoso/genética , Receptores de Superfície Celular/genéticaRESUMO
The 22q11.2 deletion syndrome occurs in approximately 1 of 3000-5000 children. This is a congenital disorder characterized by facial dysmorphic features, cardiac defects, thymic hypoplasia, cleft palate, hypoparathyroidism, and psychiatric disorders. Patients generally exhibit a mild to moderate decrement in T-cell numbers with preservation of T-cell function. We describe advances in understanding the genetic basis of this syndrome, its clinical manifestations, and new information on immunodeficiences in this syndrome.
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Anormalidades Múltiplas/genética , Anormalidades Múltiplas/imunologia , Deleção Cromossômica , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/imunologia , Cromossomos Humanos Par 22/genética , Síndromes de Imunodeficiência/genética , Anormalidades Múltiplas/diagnóstico , Criança , Aberrações Cromossômicas , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 22/imunologia , Testes Genéticos , Humanos , Subpopulações de Linfócitos T/imunologiaRESUMO
BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest subset of severe congenital heart disease in the cohort. METHODS AND RESULTS: To identify common genetic variants associated with TOF in individuals with 22q11.2DS, we performed a genome-wide association study using Affymetrix 6.0 array and imputed genotype data. In our cohort, TOF was significantly associated with a genotyped single-nucleotide polymorphism (rs12519770, P=2.98×10-8) in an intron of the adhesion GPR98 (G-protein-coupled receptor V1) gene on chromosome 5q14.3. There was also suggestive evidence of association between TOF and several additional single-nucleotide polymorphisms in this region. Some genome-wide significant loci in introns or noncoding regions could affect regulation of genes nearby or at a distance. On the basis of this possibility, we examined existing Hi-C chromatin conformation data to identify genes that might be under shared transcriptional regulation within the region on 5q14.3. There are 6 genes in a topologically associated domain of chromatin with GPR98, including MEF2C (Myocyte-specific enhancer factor 2C). MEF2C is the only gene that is known to affect heart development in mammals and might be of interest with respect to 22q11.2DS. CONCLUSIONS: In conclusion, common variants may contribute to TOF in 22q11.2DS and may function in cardiac outflow tract development.
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Síndrome de DiGeorge/genética , Estudo de Associação Genômica Ampla , Receptores Acoplados a Proteínas G/genética , Tetralogia de Fallot/genética , Cromatina/metabolismo , Cromossomos Humanos Par 5 , Síndrome de DiGeorge/complicações , Loci Gênicos , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Desequilíbrio de Ligação , Fatores de Transcrição MEF2/genética , Análise de Sequência com Séries de Oligonucleotídeos , Fenótipo , Polimorfismo de Nucleotídeo Único , Receptores Acoplados a Proteínas G/metabolismo , Análise de Sequência de DNA , Tetralogia de Fallot/complicaçõesRESUMO
The coexistence of atopic dermatitis and psoriasis is especially rare diagnosed disease in small children. Authors present a 12 months-old girl with both of these diseases. It is important to underline that early diagnosis can apply proper coexistence therapy.
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Dermatite Atópica/complicações , Dermatite Atópica/diagnóstico , Psoríase/complicações , Psoríase/diagnóstico , Dermatite Atópica/tratamento farmacológico , Dermatite Atópica/patologia , Feminino , Humanos , Lactente , Psoríase/tratamento farmacológico , Psoríase/patologia , Resultado do TratamentoRESUMO
The aim of the study was to present rarely reported neurologic complications in Nijmegen breakage syndrome. A 13-year-old female was referred because of chronic progressive headaches. There were dysmorphic features on physical examination, which suggested a diagnosis of chromosomal instability syndrome. The results of genetic and immunologic examinations confirmed the diagnosis. Cerebral magnetic resonance imaging revealed an 8 mm thickening of the meninges over the left hemisphere, corresponding with a chronic inflammatory condition, and symptoms of left cavernous thrombophlebitis were detected. Cerebrospinal fluid examination and an infusion test demonstrated disorders in its absorption. Antibiotic, anticoagulant and cerebral edema treatment was given and after 1 week improvement was observed. Regression of symptoms occurred after 14 days.
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Trombose do Corpo Cavernoso/etiologia , Quebra Cromossômica , Transtornos Cromossômicos/complicações , Adolescente , Trombose do Corpo Cavernoso/patologia , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/patologia , Feminino , Cefaleia/etiologia , Cefaleia/patologia , Humanos , Imageamento por Ressonância MagnéticaRESUMO
OBJECTIVES: To determine whether it is fetal blood and not with mother blood in question. DESIGN: We discuss the "Apt test" results which examines the fetal hemoglobin in blood samples obtained by genetic cordocentesis. This material was used to elaborate the fetal cariotypes. MATERIALS AND METHODS: 106 samples of blood samples obtained by genetic cordocentesis were examined. Examination of each cordocentesis blood sample intended for genetic tests by means of a test estimating fetal hemoglobin (HbF). In each case the estimation was independently done by means of the Kleihauer-Betke method. RESULTS: The obtained results have evidenced the full usefulness of the "APT test" in genetic cordocentesis. CONCLUSIONS: The ATP test allows to estimate the HbF in the analysed sample of fetal blood in a course of few seconds.
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Cordocentese , Sangue Fetal , Hemoglobina Fetal/metabolismo , Troca Materno-Fetal , Adulto , Cordocentese/instrumentação , Cordocentese/métodos , Feminino , Humanos , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal/métodos , Sensibilidade e Especificidade , Coloração e RotulagemRESUMO
In the years 1994-1999 at the Department for Diagnosis of Congenital Malformations at the PPMH Institute, there were ultrasound and echocardiography examinations performed in 40 foetuses with Down Syndrome. In our study most of the cases come from low risk groups of pregnant women. Extracardiac malformations were diagnosed prenatally in 25% fetuses with Down Syndrome. The most common anomaly from extracardiac malformations was duodenal atresia (13/40 cases--32.5%).
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Síndrome de Down/diagnóstico por imagem , Ecocardiografia , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/diagnóstico por imagem , Adulto , Síndrome de Down/complicações , Síndrome de Down/genética , Feminino , Humanos , Atresia Intestinal/etiologia , Polônia , Valor Preditivo dos Testes , Gravidez , Segundo Trimestre da Gravidez , Estudos Retrospectivos , Risco , Sensibilidade e EspecificidadeRESUMO
Between 1994-1999 at the Department for Diagnosis of Congenital Malformations at the PPMH Institute there were ultrasound and echocardiography examinations performed in 40 fetuses with Down Syndrome. In our study most of the cases come from low risk groups of pregnant women. Congenital heart defects (AV-canal in 13/18 cases) were the most common anomalies diagnosed prenatally in fetuses with Down Syndrome. In fetuses with DS, functional cardiac anomalies with normal heart anatomy were recorded: disproportion and hypertrophy in 4/12 cases, tricuspid valve regurgitation, bright spot and pericardial effusion in 3/12 cases. The aim of our study was a retrospective analysis of fetuses with DS, which were diagnosed at the Department for Diagnosis of Congenital at the Institute of "PMMH" in 1994-1999 years.
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Síndrome de Down/diagnóstico por imagem , Ecocardiografia , Cardiopatias Congênitas/diagnóstico por imagem , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/diagnóstico por imagem , Adulto , Síndrome de Down/complicações , Síndrome de Down/genética , Feminino , Cardiopatias Congênitas/genética , Humanos , Polônia , Valor Preditivo dos Testes , Gravidez , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: Assessment of usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 13 (retrospective analysis). MATERIAL AND METHOD: Between 1994-1999 at the Department for Diagnosis of Congenital Malformation at the Institute of PPMH in 11 fetuses with Patau Syndrome ultrasound and echocardiography examination were performed. In our study the most of cases come from low risk of pregnant women. RESULTS: Fetal heart defect was the most common anomaly diagnosed prenatally in fetuses with Patau Syndrome (7/11), the second one were central nervous system anomalies (6/11) and genitourinary system anomalies (6/11).