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1.
Zhonghua Fu Chan Ke Za Zhi ; 54(10): 660-665, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31648441

RESUMO

Objective: To analyze the pregnancy outcomes of fetal tetralogy of Fallot and to explore its prenatal diagnosis and treatment procedures. Methods: The clinical data of 63 cases of fetal tetralogy of Fallot (62 cases were singleton and 1 case was one of twin) were collected retrospectively from November, 2013 to November, 2017 in Beijing Obstetrics and Gynecology Hospital. Results: (1) Totally, 63 cases out of 46 352 pregnancies were diagnosed fetal tetralogy of Fallot by fetal ultrasonic cardiogram with about 0.136%(63/46 352) occurrence rate, and the mean gestational age was (23±3) weeks. And 50 cases (79%, 50/63) terminated pregnancy by induced labour. (2) Totally, 57 cases (90%,57/63) accepted genetic diagnosis.Eight cases (13%, 8/63) existed chromosome abnormality including 21-trimosy in 6 cases, 18-trisomy in 1 case and 22q11.2 microdeletion syndrome in 1 case; and these 8 cases were determined before 28 gestational weeks. (3) And 13 cases (21%, 13/63) of no fetal genetic abnormality selected to continue pregnancy. Twelve cases underwent full term delivery (5 cases were cesarean section delivery and 7 cases were vaginal delivery). Twelve newborns underwent surgical radical operation on heart malformation and got recovery. One case underwent preterm cesarean section at 35 gestational weeks for one of twin, and the newborn with tetralogy of Fallot was dead. The other the newborns survived and were followed up for tetralogy of Fallot surgery from 1 month to 3 years old after birth and recovered. Conclusions: Fetal tetralogy of Fallot mainly is diagnosed by ultrasonic cardiogram in the second trimester. The gestational age of diagnosis may be as early as 15 gestational weeks. Fetal tetralogy of Fallot with no genetic abnormality could underwent radical heart malformation operation after birth. It is necessary to undergo genetic testing on fetal tetralogy of Fallot and prenatal multidisciplinary counseling as well.


Assuntos
Resultado da Gravidez , Diagnóstico Pré-Natal/métodos , Tetralogia de Fallot/diagnóstico por imagem , Ultrassonografia Pré-Natal , Aorta/diagnóstico por imagem , Aorta/patologia , Cesárea , Feminino , Feto , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Gravidez , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Tetralogia de Fallot/diagnóstico
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 970-974, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598938

RESUMO

OBJECTIVE: To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT). METHODS: Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls. RESULTS: The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing. CONCLUSION: CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.


Assuntos
Aberrações Cromossômicas , Análise em Microsséries , Medição da Translucência Nucal , Resultado da Gravidez , Diagnóstico Pré-Natal , Aneuploidia , Cromossomos , Variações do Número de Cópias de DNA , Edema , Feminino , Feto , Humanos , Linfangioma Cístico , Gravidez , Ultrassonografia Pré-Natal
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1015-1018, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598949

RESUMO

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy (DMD). METHODS: Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletion and duplication of the Dystrophin gene. Haplotype analysis was performed using five short tandem repeat polymorphism loci (3'-STR, 5'-STR, 45-STR, 49-STR, 50-STR of the DMD gene. RESULTS: A same deletional mutation (exons 51-55) of the DMD gene was detected in two brothers but not in their mother. The patients and fetus have inherited different haplotypes of the Dystrophin gene from their mother, suggesting that the fetus was unaffected. CONCLUSION: The mother was very likely to harbor germline mosaicism for the Dystrophin gene variant. Genetic testing of peripheral blood samples cannot rule out germline mosaicism in the mother. Prenatal diagnosis should be provided for subsequent pregnancies in this family.


Assuntos
Distrofina/genética , Deleção de Genes , Mutação em Linhagem Germinativa , Mosaicismo , Distrofia Muscular de Duchenne/genética , Éxons , Feminino , Humanos , Masculino , Gravidez , Diagnóstico Pré-Natal
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1022-1024, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598951

RESUMO

OBJECTIVE: To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF). METHODS: Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing. RESULTS: The fetus was found to carry compound heterozygous variants c.1440+1G>A and c.925G>T of the NPHS1 gene, which were respectively inherited from its mother and father. CONCLUSION: Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.


Assuntos
Síndrome Nefrótica/congênito , Síndrome Nefrótica/diagnóstico , Feminino , Feto , Finlândia , Heterozigoto , Humanos , Proteínas de Membrana/genética , Gravidez , Diagnóstico Pré-Natal
5.
Medicine (Baltimore) ; 98(38): e17200, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31567968

RESUMO

The universal two-child policy has now been fully implemented in China. This change requires adaptations to maternal care and childcare systems, but the features of prenatal diagnosis before and after implementation of the policy have not been reported.We conducted a retrospective study of 6736 prenatal cytogenetic diagnoses performed on amniotic fluid cells over a 4-year period, including 2 years before and after implementation of the second child policy. Amniotic fluid cells collected through amniocentesis were cultured, harvested, and stained for chromosome analysis using standard laboratory protocols.The study included 3222 pregnant women referred before implementation of the policy, which we used as a control group, and 3514 pregnant women referred after policy implementation as an investigational study group. There were significantly fewer pregnant women aged <25 years in the investigational group than in the control group (P < .001). There were no significant between-group differences for other pregnant women aged >31 years and 27-28 years old (P > .05). A total of 358 cases with chromosomal abnormalities were diagnosed, including 129 (4%, 129/3222) in the control group which was significantly lower than the 229 (6.5%, 229/3514) in the study group (P < .001). In particular, significantly more trisomy 21 cases were observed in the study group than in the control group (120 vs 59). More pregnant women underwent non-invasive prenatal testing (NIPT) in the study group (46%) than in the control group (20%). In the study group, the average age of pregnant women who underwent NIPT was significantly higher than that of women who did not receive NIPT (P < .05). However, there were no significant between-group differences for the control group (P > .05).The number of cases with chromosomal abnormalities increased in northeastern China in the 2 years after implementation of the two-child policy. The number of pregnant women of advanced maternal age did not increase significantly, perhaps because of the widespread application of NIPT. However, the number of fetuses with Down syndrome increased significantly, suggesting that prenatal screening and diagnosis should be strengthened.


Assuntos
Controle da População , Diagnóstico Pré-Natal/estatística & dados numéricos , Política Pública , Adulto , Fatores Etários , Amniocentese/estatística & dados numéricos , China , Aberrações Cromossômicas , Feminino , Humanos , Controle da População/estatística & dados numéricos , Gravidez , Estudos Retrospectivos , Adulto Jovem
6.
Medicine (Baltimore) ; 98(38): e17236, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31567987

RESUMO

BACKGROUND: The number of citations a published article receives can be used to demonstrate its impact on a field of study. The objective of this study was to identify and characterize the 100 most-cited research articles (T100) published on prenatal diagnosis. METHODS: The Web of Science (WOS) database was searched for papers on prenatal diagnosis published between 1900 and 2018. The 100 most-cited original articles and reviews were recorded. Each eligible paper was reviewed for authors, journal name, year of publication, country, institution, total citations, citation density, H-index, research field, article type, and keywords. RESULTS: The T100 were published between 1972 and 2015 with a mean of 332.7 citations per paper (range: 196-1254). Most of the T100 were published between 1990 and 2005, in 35 journals led by New England Journal of Medicine (n = 14) followed by Lancet (n = 10), and Proceedings of The National Academy of Sciences of the United States of America (n = 8). Studies on method application, which promotes field development, were the majority article type. The team of Lo YM featured prominently in the field, and the United States of America, United Kingdom, and Hong Kong, China were the leading countries/regions. Frequency of cooperation was also highest among these 3 regions. Hierarchical cluster analysis produced 4 groups of keywords. CONCLUSION: Our analysis provides a historical perspective on scientific progress in prenatal diagnosis and may assist clinicians and researchers in assessing the quality of research over the past 50 years. It also provides concise information to guide future research.


Assuntos
Bibliometria , Diagnóstico Pré-Natal , Feminino , Humanos , Gravidez
7.
Rev Med Suisse ; 15(668): 1914-1919, 2019 Oct 23.
Artigo em Francês | MEDLINE | ID: mdl-31643151

RESUMO

Following the introduction of non-invasive tests, antenatal screening for trisomy 21 underwent important changes. Clinicians had to rapidly adapt their practice, especially in the field of antenatal counseling. On a population wide scale, new strategies and guidelines have been implemented. This article reviews the basic concepts of antenatal screening, including the use of non-invasive cell-free fetal DNA testing.


Assuntos
Diagnóstico Pré-Natal/métodos , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Feto/citologia , Feto/metabolismo , Humanos , Gravidez
8.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(5): 1585-1591, 2019 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-31607316

RESUMO

OBJECTIVE: To perform genetic analysis, prenatal diagnosis and preimplantation genetic diagnosis (PGD) in a family with a rare deletional ß- thalassemia. METHODS: Hematological parameters of the peripheral blood collected from all the family members were analyzed by whole blood cell analysis and capillary zone electrophoresis (CZE). Polymerase chain reaction-reverse dot blot (PCR-RDB) was used to identify 17 common ß- thalassemia gene mutations, the multiplex ligation-dependent probe amplification (MLPA) and gap-polymerase chain reaction (gap-PCR) were used to identify ß- globin gene cluster deletions. Chorionic villus sample or umbilical cord blood was obtained for prenatal diagnosis. Oligo-cells from blastocyst biopsy were collected for preimplantation genetic diagnosis by whole genome amplification and next generation sequencing. RESULTS: The proband was a carrier of Taiwanese deletion ß- thalassemia, two fetuses were both thalassemia majors. The PGD results showed that 6 of 11 tested embryos could be choose for transplantation. CONCLUSION: The Taiwanese deletion is a rare type deletion of ß- globin gene cluster, and it can lead to thalassemia intermedia or thalassemia major when compounded with other ß- globin gene mutation. PGD is another choice for thalassemia couples.


Assuntos
Diagnóstico Pré-Implantação , Talassemia beta , Feminino , Testes Genéticos , Humanos , Gravidez , Diagnóstico Pré-Natal , Talassemia alfa , Talassemia beta/genética
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 866-869, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515777

RESUMO

OBJECTIVE: To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation. METHODS: For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting. RESULTS: In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal. CONCLUSION: Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.


Assuntos
Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/diagnóstico , Diagnóstico Pré-Natal , Feminino , Heterozigoto , Humanos , Mutação , Gravidez
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 910-913, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515788

RESUMO

OBJECTIVE: To explore the genetic basis for an infant featuring developmental delay, hand deformity and hypertonia of extremities. METHODS: Clinical data and peripheral blood samples of the proband and her parents were collected. Following DNA extraction, potential mutations were screened on an Ion PGM platform using a gene panel. Suspected mutation was verified by PCR and Sanger sequencing. RESULTS: A novel heterozygous nonsense mutation, c.2521C>T(p.R841X), was identified in the NIPBL gene. The mutation may cause premature termination of translation of the adhesion protein loading factor at 841st amino acids. The same mutation was not found in her parents and 931 healthy controls, and was absent from public databases including ExAC and 1000G. Bioinformatic analysis suggested the mutation to be disease causing. CONCLUSION: The c.2521C>T (p.R841X) mutation of the NIPBL gene probably underlies the Cornelia De Lange syndrome in the infant. Prenatal diagnosis may be provided to this family upon their subsequent pregnancy.


Assuntos
Síndrome de Lange/genética , Diagnóstico Pré-Natal , Proteínas/genética , Síndrome de Lange/diagnóstico , Feminino , Heterozigoto , Humanos , Lactente , Mutação , Gravidez
11.
Pan Afr Med J ; 33: 86, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31489064

RESUMO

Placenta accreta spectrum disorders is a rare pathology but the incidence has not stopped to increase in recent years. The purpose of our work was the analysis of the epidemiological profile of our patients, the circumstances of diagnosis, the interest of paraclinical explorations in antenatal diagnosis and the evaluation of the evolutionary profile. We hereby report a case series spread over a period of one year from 01/01/2015 to 01/01/2016 at the Gynaecology-Obstetrics department of the University Hospital Center IBN SINA of Rabat where we identified six cases of placenta accreta. We selected patients whose diagnosis was confirmed clinically and histologically. The major risk factors identified were a history of placenta previa, previous caesarean section, advanced maternal age, multiparity. 2D ultrasound and magnetic resonance imaging (MRI) allowed us to strongly suspect the presence of a placenta accreta in a pregnant woman with risk factor(s) but the diagnosis of certainty was always histological. Placenta accreta spectrum disorders were associated with a high risk of severe postpartum hemorrhage, serious comorbidities, and maternal death. Leaving the placenta in situ was an option for women who desire to preserve their fertility and agree to continuous long-term monitoring in centers with adequate expertise but a primary elective caesarean hysterectomy was the safest and most practical option. Placenta accreta spectrum disorders is an uncommon pathology that must be systematically sought in a parturient with risk factors, to avoid serious complications. In light of the latest International Federation of Gynecology and Obstetrics (FIGO) recommendations of 2018, a review of the literature and finally the experience of our center, we propose a course of action according to whether the diagnosis of the placenta is antenatal or perpartum.


Assuntos
Histerectomia/métodos , Placenta Acreta/diagnóstico , Ultrassonografia Pré-Natal/métodos , Adulto , Cesárea/estatística & dados numéricos , Feminino , Humanos , Marrocos , Placenta Acreta/epidemiologia , Hemorragia Pós-Parto/etiologia , Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Fatores de Risco
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 765-768, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400123

RESUMO

OBJECTIVE: To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease. METHODS: Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing. RESULTS: The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic. CONCLUSION: PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.


Assuntos
Aconselhamento Genético , Doenças Renais Policísticas/diagnóstico , Doenças Renais Policísticas/genética , Diagnóstico Pré-Natal , Receptores de Superfície Celular/efeitos dos fármacos , Análise Mutacional de DNA , Feminino , Humanos , Mutação , Linhagem , Gravidez
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 813-816, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400135

RESUMO

OBJECTIVE: To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality. METHODS: Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis. RESULTS: The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal. CONCLUSION: 3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.


Assuntos
Cromossomos Humanos Par 3/genética , Diagnóstico Pré-Natal , Trissomia , Hibridização Genômica Comparativa , Feminino , Feto , Humanos , Cariotipagem , Masculino , Gravidez
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 826-288, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400138

RESUMO

OBJECTIVE: To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID). METHODS: The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis. RESULTS: G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome. CONCLUSION: Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.


Assuntos
Deficiência Intelectual , Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico , Diagnóstico Pré-Natal , Deleção Cromossômica , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 841-843, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400142

RESUMO

OBJECTIVE: To diagnose a fetus with Phelan-McDermid syndrome (PMS) using various techniques. METHODS: Single nucleotide polymorphism array (SNP Array), multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) were applied in conjunction for the prenatal diagnosis of the fetus. RESULTS: SNP Array detected a 4.03 Mb microdeletion at 22q13.31q13.33 in the fetus, which was confirmed by FISH and MLPA. FISH analysis of the parents suggested that the 22q13.31q13.33 deletion has a de novo origin. CONCLUSION: Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.


Assuntos
Transtornos Cromossômicos/diagnóstico , Diagnóstico Pré-Natal , Deleção Cromossômica , Cromossomos Humanos Par 22 , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Gravidez
17.
Rev Med Liege ; 74(7-8): 406-409, 2019 Jul.
Artigo em Francês | MEDLINE | ID: mdl-31373455

RESUMO

Antenatal diagnosis of the amniotic band syndrome often occurs during the second trimester of pregnancy when complex and asymmetrical limb deformities are observed. As vital prognosis depends on the gravity of malformations, lesion assessment should be as accurate as possible. Color doppler US screening is useful and could unravel limb vascular compression by an amniotic band. A vascular stop predicts in utero limb amputation. We hereby report the case of a 30-year-old patient pregnant with a fœtus presenting 4-limb deformities. One limb was highly suspected of undergoing amputation. Facing those heavy-burden anomalies, the patient asked for a medical termination of her pregnancy.


Assuntos
Síndrome de Bandas Amnióticas , Adulto , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Amputação , Feminino , Humanos , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal
18.
Bratisl Lek Listy ; 120(8): 563-565, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31379177

RESUMO

OBJECTIVES: Analyzing the clinical group to evaluate current indications for cordocenteses, their complications and data obtained in further pregnancy management. METHODS: Retrospective analysis evaluated 92 cordocenteses (diagnostic and therapeutic) performed during the period of 2007‒2018. These were performed between 17 and 36 weeks of gestation under ultrasound guidance by a specialist at 2nd Department of Gynecology and Obstetrics, Faculty of Medicine, Comenius University. RESULTS: Out of 92 procedures, 78 were diagnostic and 14 were therapeutic. The diagnostic cordocentesis was successful in 97.4 % and intrauterine therapy was successful in 85.7 %. There were 2 (2.56 %) diagnostic cordocenteses complicated by fetal demise and 2 (14 %) intrauterine demises in therapeutic cordocentesis. The pathological karyotype was detected in 14.5 %. Aneuploidia was present in 4 cases (44.4 %), mosaicism in 4 cases (44.4 %) and triploidia in one case (11.1 %). CONCLUSION: Despite of novel molecular genetic technique cordocentesis still plays unreplaceable role in current prenatal diagnosis and treatment. The risk of complications of cordocentesis increases depending on the severity of fetal pathology in pathologic pregnancies. In some situations it can be used as a useful tool for original fetal diagnosis and therapy (Tab. 3, Ref. 20).


Assuntos
Cordocentese , Diagnóstico Pré-Natal , Feminino , Feto , Humanos , Cariotipagem , Gravidez , Estudos Retrospectivos
19.
Lancet ; 394(10197): 533-540, 2019 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-31395441

RESUMO

One of the primary goals of genomic medicine is to improve diagnosis through identification of genomic conditions, which could improve clinical management, prevent complications, and promote health. We explore how genomic medicine is being used to obtain molecular diagnoses for patients with previously undiagnosed diseases in prenatal, paediatric, and adult clinical settings. We focus on the role of clinical genomic sequencing (exome and genome) in aiding patients with conditions that are undiagnosed even after extensive clinical evaluation and testing. In particular, we explore the impact of combining genomic and phenotypic data and integrating multiple data types to improve diagnoses for patients with undiagnosed diseases, and we discuss how these genomic sequencing diagnoses could change clinical management.


Assuntos
Doenças Raras/diagnóstico , Análise de Sequência de DNA/métodos , Adulto , Criança , Diagnóstico Precoce , Genômica , Humanos , Fenótipo , Diagnóstico Pré-Natal/métodos , Doenças Raras/genética , Sequenciamento Completo do Exoma , Sequenciamento Completo do Genoma
20.
Cytogenet Genome Res ; 158(4): 199-204, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31315112

RESUMO

Here, we report a molecular characterization of a small supernumerary marker chromosome (sSMC) derived from the most proximal region of 13q present in a fetus with coarctation of the aorta at ultrasound examination during prenatal diagnosis. Cultured umbilical cord blood cells showed a de novo extra ring-shaped sSMC in 76% of the cells using a standard banding technique. SNP array revealed a tetrasomy of about 28.4 Mb in the long arm of chromosome 13 from band 13q11 to 13q14.11 in the fetus's cells. Metaphase/interphase FISH using specific probes located at 13q11, 13q12.11, and 13q14.11, respectively, demonstrated that the supernumerary ring chromosome was derived from an inverted duplication of the region 13q11q14.11 with a conventional centromere. To the best of our knowledge, this is the first time that an inverted duplication of the most proximal region 13q11q14.11 in a ring chromosome is characterized. The findings we presented here deepen our understanding of the clinical consequences of tetrasomy in this region and may be of help for further studies of critical regions in chromosome 13.


Assuntos
Coartação Aórtica/genética , Duplicação Cromossômica/genética , Cromossomos Humanos Par 13/genética , Doenças Fetais/genética , Diagnóstico Pré-Natal , Cromossomos em Anel , Tetrassomia/genética , Adulto , Centrômero/genética , Bandeamento Cromossômico , Feminino , Doenças Fetais/diagnóstico , Feto/metabolismo , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único/genética , Gravidez
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