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1.
Eur. j. anat ; 23(5): 369-376, sept. 2019. ilus, graf, tab
Artigo em Inglês | IBECS | ID: ibc-183867

RESUMO

Hepatic organogenesis is a complex process involving various molecular and cellular determinants. Knowledge of the anatomical and functional structure of the liver and its relationship with other abdominal organs is fundamental from a surgical point of view. Clinical autopsies were performed upon twelve fetal specimens. Photographic footage was reviewed for fetal livers presenting macroscopic abnormalities, and relevant cases were included. A search was conducted employing terms pertaining hepatic malformations’ morphogenetic, anatomical and pathological features. A thorough review was elaborated introducing an updated classification based on autopsy findings and available literature. Twelve fetal specimens underwent clinical autopsies. Gestational age ranged between 18 and 38 weeks (mean 28 weeks). All livers displayed symmetrical lobes. Seven of them presented at least one dysmorphic feature on macroscopic examination. Hepatic malformations can be classified into anomalies due to excessive development, defective development or extrinsic factors. The relevance of the proper identification of liver malformations lies in the broad spectrum of clinical manifestations with different degrees of morbidity associated with them


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Assuntos
Humanos , Feto/anormalidades , Feto/anatomia & histologia , Fígado/anormalidades , Fígado/anatomia & histologia , Cadáver , Morfogênese , Autopsia/métodos , Fígado/patologia , Organogênese
2.
Cad. Ibero Am. Direito Sanit. (Impr.) ; 8(1): 110-118, jan.-mar. 2019.
Artigo em Português | LILACS | ID: biblio-996367

RESUMO

Objetivo: evidenciar o conflito normativo sobre a capacidade da adolescente grávida de feto anencefálico e o não respeito a sua capacidade autônoma na tomada de decisões. Metodologia:foi utilizada análise documental, revisão bibliográfica e legislativa. A população estudada pertence à faixa etária compreendida entre 12 anos e 17 anos, por ser definida no Código Civil Brasileiro, respectivamente, como fases de incapacidade absoluta e capacidade parcial para atos da vida civil. Resultados: necessidade da construção de propostas de ação que garantam capacidade autônoma às adolescentes sobre o exercício do seu direito à privacidade e à saúde. (AU)


Objetivo: evidenciar el conflicto normativo sobre la capacidad de la adolescente embarazada de feto anencefálico y el no respeto a su capacidad autónoma en la toma de decisiones. Metodología: se utilizó análisis documental, con realización revisión bibliográfica y legislativa. La población estudiada pertence a la franja etaria comprendida entre 12 años y 17 años, por ser definida en el Código Civil Brasileño respectivamente como: fases de incapacidad absoluta y capacidad parcial para actos de la vida civil. Resultados: necesidad de la construcción de propuestas de acción que garantan la capacidad autónoma de las adolescentes sobre el ejercicio de su derecho a la privacidad ya la salud. (AU)


Objective: highlight the normative conflict about the capacity of pregnant adolescent anencephalic fetus and the lack of respect for their autonomous capacity in decision making. Methodology: documentary analysis with bibliographical and legislative revision. The population studied belongs to the age range between 12 years and 17 years, since it is defined in the Brazilian Civil Code respectively as: phases of absolute incapacity and partial capacity for acts of civil life. Results: need to construct proposals for action that guarantee the adolescentes their autonomous capacity on the exercise of their right to privacy and health. (AU)


Assuntos
Humanos , Feminino , Gravidez , Gravidez na Adolescência , Aborto Eugênico , Feto/anormalidades
3.
Obstet Gynecol Clin North Am ; 46(2): 367-378, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31056137

RESUMO

Diagnostic ultrasound is a powerful tool in obstetrics/gynecology. It has multiple applications, but for every use there are potential pitfalls that can have significant deleterious effects. Guidelines and certifications have been implemented to enhance the safety of this technique.


Assuntos
Ginecologia/métodos , Obstetrícia/métodos , Ultrassonografia Pré-Natal , Ultrassonografia , Colo do Útero/diagnóstico por imagem , Feminino , Desenvolvimento Fetal , Doenças Fetais/diagnóstico por imagem , Feto/anormalidades , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Erros Médicos , Placenta/diagnóstico por imagem , Gravidez , Complicações na Gravidez/diagnóstico por imagem , Gravidez Múltipla , Nascimento Prematuro/diagnóstico por imagem
4.
Methods Mol Biol ; 1965: 421-434, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31069690

RESUMO

Teratology is the study of anatomical and physiological abnormalities, commonly known as birth defects. If an embryo is exposed to a harmful substance, or teratogen, during the critical period of development, an ensuing malformation may occur. These malformations and their associated mechanisms are studied and analyzed in laboratory animals in order to prevent them from occurring in humans. Rodents such as rats and mice have commonly been used in such studies because of their similarity to humans. In 1959, James G. Wilson designed, developed, and tested a protocol on how to observe and analyze structural malformations in rodent fetuses, which included: external examination, skeletal evaluation, soft tissue analysis, and data collection/analysis. For standardization purposes, i.e., to normalize findings from one lab to another, it is important that this protocol be followed with precision. Although many years have passed since Wilson initially created this protocol, it is still widely used to this day, and only minor changes have been made to his instructions such as the chemical reagents used in the experiments and methods of analysis of the experimental data. Such testing has resulted in major advances in the dissemination of teratology information, including the identification of an increasing number of teratogens and the understanding of the pathogenesis of birth defects. While mechanistically birth defect prevention will include the understanding of individual genomes and pharmacogenomics, overall, morphological assessment will still be required as an integral part of birth defects research. As the interaction between teratogenic and genetic factors is better understood, it is anticipated that the incidence of most types of defects will substantially be reduced.


Assuntos
Anormalidades Induzidas por Medicamentos/diagnóstico , Anormalidades Congênitas/diagnóstico , Teratogênios/toxicidade , Anormalidades Induzidas por Medicamentos/genética , Animais , Osso e Ossos/anormalidades , Osso e Ossos/efeitos dos fármacos , Osso e Ossos/embriologia , Anormalidades Congênitas/genética , Feminino , Feto/anormalidades , Feto/efeitos dos fármacos , Humanos , Camundongos , Gravidez , Ratos
5.
Zhonghua Fu Chan Ke Za Zhi ; 54(4): 221-225, 2019 Apr 25.
Artigo em Chinês | MEDLINE | ID: mdl-31006186

RESUMO

Objective: To investigate pathogenic genes related to the phenotype of fetus with severely short limbs in the first and second trimester by whole exome sequencing (WES). Methods: Thirteen fetuses with severely short limbs detected by ultrasonography in the first and second trimester admitted in Chinese PLA General Hospital from September 2016 to June 2018 were collected. All cases were performed induced abortion, 6 of which were carried out karyotype analysis of amniotic fluid at the same time. WES and copy number variations (CNV) were performed on specimens from fetal tissues after labor induction. The suspected pathogenic mutations were validated by Sanger sequencing reactions. Results: No abnormal karyotypes or pathological CNV were found. In 10 fetuses, pathogenic or possibly pathogenic mutations were detected in the following genes: COL2A1, FGFR3, COL1A1, COL1A2, DYNC2LI1 and TRIP11, all of which were essential to skeletal development. The diagnostic yield of WES in the fetuses with severe short limbs was 10/13. Conclusions: In the first and second trimester, most of the fetuses with extremely short limbs suffer from monogenic diseases. WES is likely to be a valuable diagnostic testing option for the fetuses with severe short limbs.


Assuntos
Anormalidades Congênitas/genética , Dineínas do Citoplasma , Variações do Número de Cópias de DNA , Desenvolvimento Fetal/genética , Feto/anormalidades , Sequenciamento Completo do Exoma/métodos , Anormalidades Congênitas/diagnóstico , Variações do Número de Cópias de DNA/genética , Feminino , Feto/diagnóstico por imagem , Humanos , Cariotipagem , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Ultrassonografia Pré-Natal
6.
J Vet Med Sci ; 81(5): 657-659, 2019 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-30853669

RESUMO

A captured Japanese wild boar (Sus scrofa leucomystax) fetus was dicephalic. The fetus had two heads, but one body from the cranial neck region. Computed tomography imaging revealed that the two crania merged at the occipital bone, and the vertebral bodies between the atlas and the seventh thoracic vertebra were deformed. The fetus was found to have two tongues and laryngopharynges, but its esophagus and trachea were not duplicated. Each head contained a cerebrum and cerebellum, but the brains merged at the obex of the medulla oblongata, and the cervical spinal cord had duplicated ventral clefts. The heart was composed of three atria and four ventricles. This is the first report of a dicephalus with cardiac malformation in a wild boar.


Assuntos
Sus scrofa/anormalidades , Gêmeos Unidos , Animais , Feto/anormalidades , Feto/diagnóstico por imagem , Cardiopatias Congênitas/veterinária , Japão , Tomografia Computadorizada por Raios X/veterinária
7.
Lancet ; 393(10173): 758-767, 2019 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-30712878

RESUMO

BACKGROUND: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected prenatal cases, its value in routine clinical settings has not been prospectively assessed in a large unselected cohort of fetuses with structural anomalies. We therefore aimed to determine the incremental diagnostic yield (ie, the added value) of WES following uninformative results of standard investigations with karyotype testing and chromosomal microarray in an unselected cohort of sequential pregnancies showing fetal structural anomalies. METHODS: In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study. These participants were predominantly identified in or were referred to the Columbia University Carmen and John Thain Center for Prenatal Pediatrics (New York, NY, USA). Fetuses with confirmed aneuploidy or a causal pathogenic copy number variant were excluded from WES analyses. By use of WES of the fetuses and parents (parent-fetus trios), we identified genetic variants that indicated an underlying cause (diagnostic genetic variants) and genetic variants that met the criteria of bioinformatic signatures that had previously been described to be significantly enriched among diagnostic genetic variants. FINDINGS: Between April 24, 2015, and April 19, 2017, 517 sequentially identified pregnant women found to have fetuses with a structural anomaly were screened for their eligibility for inclusion in our study. 71 (14%) couples declined testing, 87 (17%) trios were missing at least one DNA sample (from either parent or the fetus), 69 (13%) trios had a clinically relevant abnormal karyotype or chromosomal microarray finding, 51 (10%) couples did not consent to WES or withdrew consent, and five (1%) samples were not of good enough quality for analysis. DNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures. INTERPRETATION: Our analysis of WES data in a prospective cohort of unselected fetuses with structural anomalies shows the value added by WES following the use of routine genetic tests. Our findings suggest that, in cases of fetal anomalies in which assessment with karyotype testing and chromosomal microarray fail to determine the underlying cause of a structural anomaly, WES can add clinically relevant information that could assist current management of a pregnancy. The unique challenges of WES-based prenatal diagnostics require analysis by a multidisciplinary team of perinatal practitioners and laboratory specialists. FUNDING: Institute for Genomic Medicine (Columbia University Irving Medical Center).


Assuntos
Cariótipo Anormal/embriologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Aneuploidia , Variações do Número de Cópias de DNA/genética , Desenvolvimento Fetal/genética , Feto/anormalidades , Sequenciamento Completo do Exoma/estatística & dados numéricos , Anormalidades Múltiplas/epidemiologia , Amniocentese , Amostra da Vilosidade Coriônica , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal , Sequenciamento Completo do Exoma/métodos
8.
Lancet ; 393(10173): 747-757, 2019 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-30712880

RESUMO

BACKGROUND: Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneuploidy and CNVs is routine during the investigation of fetal structural anomalies, but there is little information on the clinical usefulness of genome-wide next-generation sequencing in the prenatal setting. We therefore aimed to evaluate the proportion of fetuses with structural abnormalities that had identifiable variants in genes associated with developmental disorders when assessed with whole-exome sequencing (WES). METHODS: In this prospective cohort study, two groups in Birmingham and London recruited patients from 34 fetal medicine units in England and Scotland. We used whole-exome sequencing (WES) to evaluate the presence of genetic variants in developmental disorder genes (diagnostic genetic variants) in a cohort of fetuses with structural anomalies and samples from their parents, after exclusion of aneuploidy and large CNVs. Women were eligible for inclusion if they were undergoing invasive testing for identified nuchal translucency or structural anomalies in their fetus, as detected by ultrasound after 11 weeks of gestation. The partners of these women also had to consent to participate. Sequencing results were interpreted with a targeted virtual gene panel for developmental disorders that comprised 1628 genes. Genetic results related to fetal structural anomaly phenotypes were then validated and reported postnatally. The primary endpoint, which was assessed in all fetuses, was the detection of diagnostic genetic variants considered to have caused the fetal developmental anomaly. FINDINGS: The cohort was recruited between Oct 22, 2014, and June 29, 2017, and clinical data were collected until March 31, 2018. After exclusion of fetuses with aneuploidy and CNVs, 610 fetuses with structural anomalies and 1202 matched parental samples (analysed as 596 fetus-parental trios, including two sets of twins, and 14 fetus-parent dyads) were analysed by WES. After bioinformatic filtering and prioritisation according to allele frequency and effect on protein and inheritance pattern, 321 genetic variants (representing 255 potential diagnoses) were selected as potentially pathogenic genetic variants (diagnostic genetic variants), and these variants were reviewed by a multidisciplinary clinical review panel. A diagnostic genetic variant was identified in 52 (8·5%; 95% CI 6·4-11·0) of 610 fetuses assessed and an additional 24 (3·9%) fetuses had a variant of uncertain significance that had potential clinical usefulness. Detection of diagnostic genetic variants enabled us to distinguish between syndromic and non-syndromic fetal anomalies (eg, congenital heart disease only vs a syndrome with congenital heart disease and learning disability). Diagnostic genetic variants were present in 22 (15·4%) of 143 fetuses with multisystem anomalies (ie, more than one fetal structural anomaly), nine (11·1%) of 81 fetuses with cardiac anomalies, and ten (15·4%) of 65 fetuses with skeletal anomalies; these phenotypes were most commonly associated with diagnostic variants. However, diagnostic genetic variants were least common in fetuses with isolated increased nuchal translucency (≥4·0 mm) in the first trimester (in three [3·2%] of 93 fetuses). INTERPRETATION: WES facilitates genetic diagnosis of fetal structural anomalies, which enables more accurate predictions of fetal prognosis and risk of recurrence in future pregnancies. However, the overall detection of diagnostic genetic variants in a prospectively ascertained cohort with a broad range of fetal structural anomalies is lower than that suggested by previous smaller-scale studies of fewer phenotypes. WES improved the identification of genetic disorders in fetuses with structural abnormalities; however, before clinical implementation, careful consideration should be given to case selection to maximise clinical usefulness. FUNDING: UK Department of Health and Social Care and The Wellcome Trust.


Assuntos
Cariótipo Anormal/estatística & dados numéricos , Anormalidades Congênitas/genética , Desenvolvimento Fetal/genética , Feto/anormalidades , Sequenciamento Completo do Exoma/estatística & dados numéricos , Cariótipo Anormal/embriologia , Aborto Eugênico/estatística & dados numéricos , Aborto Espontâneo/epidemiologia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Variações do Número de Cópias de DNA/genética , Feminino , Feto/diagnóstico por imagem , Humanos , Recém-Nascido , Nascimento Vivo/epidemiologia , Masculino , Medição da Translucência Nucal , Pais , Morte Perinatal/etiologia , Gravidez , Estudos Prospectivos , Natimorto/epidemiologia , Sequenciamento Completo do Exoma/métodos
9.
Fetal Pediatr Pathol ; 38(1): 14-29, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30633599

RESUMO

INTRODUCTION: Congenital heart defects (CHDs) carry significant morbidity and mortality in pediatric patients. This study determined the spectrum of CHDs based on fetal and pediatric autopsies. METHODS: Autopsy reports over a 15-year period were reviewed. Postmortem findings were correlated with echocardiography records. RESULTS: From 608 autopsies, 119 cases with CHDs were identified (11% of fetal, 53% of neonatal, 18% of infant, and 4.5% of childhood autopsies). Persistent left superior vena cava was the most common individual defect. 41% of cases had extracardiac malformations. 18.5% of cases had chromosomal abnormalities. Prenatal echocardiography was available in 52 cases, showing 85% correlation with autopsy findings. Defects missed by echocardiography were generally of mild severity. CONCLUSION: Postmortem examination is important to delineate the anatomy of CHDs, and recognize extracardiac malformations for identification of possible genetic syndromes. This information can be used for parental counseling and for assessment of accuracy of pre-mortem imaging studies.


Assuntos
Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/patologia , Adolescente , Autopsia , Criança , Pré-Escolar , Feminino , Feto/anormalidades , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos
10.
Fetal Pediatr Pathol ; 38(1): 57-62, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30661433

RESUMO

INTRODUCTION: The main characteristics of absent pulmonary valve syndrome (APVS) include the absence or hypoplasia of the pulmonary valve, stenosis of the pulmonary valve annulus, and aneurysmal dilatation of the pulmonary trunk and its branches. In the more common type 1, the tetralogy of Fallot-like type, there is a ventricular septal defect, overriding aorta, pulmonary arterial dilatation, and absence of ductus arteriosus, The second type has an intact ventricular septum, less pulmonary artery dilatation, and a patent ductus arteriosus, with or without tricuspid atresia. CASE REPORT: This APVS had an intact ventricular septum with an absent ductus arteriosus. CONCLUSION: The APVS with intact ventricular septum with an absent ductus arteriosus may represent a third type of APVS.


Assuntos
Feto/anormalidades , Cardiopatias Congênitas/patologia , Valva Pulmonar/anormalidades , Humanos , Masculino
11.
Eur J Gastroenterol Hepatol ; 31(4): 425-433, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30676472

RESUMO

Coeliac disease (CD) is a chronic gluten-dependent enteropathy very common in the general population and characterized by an extremely heterogeneous clinical picture. Although its prevalence is growing worldwide, case-finding strategy remains the mainstay to diagnosis. Thus, correct identification of high-risk categories of patients who need to be tested for CD is an essential part of medical knowledge to a large number of specialists and primary care providers. In this regard, although CD might have a serious effect on women's reproductive health, a widespread consensus is lacking on which categories of obstetric and gynaecological disorders should be tested for CD. The aim of this review is to critically summarize the current literature relevant to CD and obstetric and gynaecological disorders and to provide practical proposals that may be helpful to clinicians involved in the management of these patients.


Assuntos
Doença Celíaca/complicações , Doenças dos Genitais Femininos/etiologia , Complicações na Gravidez/etiologia , Doença Celíaca/diagnóstico , Feminino , Feto/anormalidades , Doenças dos Genitais Femininos/diagnóstico , Humanos , Infertilidade Feminina/etiologia , Gravidez , Complicações na Gravidez/diagnóstico , Resultado da Gravidez , Cuidado Pré-Natal/métodos
12.
Pediatr Radiol ; 49(3): 387-398, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30547222

RESUMO

The term cloacal malformation is commonly used to describe the classic cloacal malformation where there is a single common urogenital and intestinal channel located at the expected site of the urethra. There is, however, a spectrum of cloacal abnormalities that differ from this classic type and are less well discussed in the radiologic and surgical literature. The aim of this pictorial essay is to familiarize radiologists with the anatomy, appropriate terminology and key prenatal imaging findings that differentiate the six entities that constitute the spectrum of cloacal abnormalities.


Assuntos
Cloaca/anormalidades , Cloaca/diagnóstico por imagem , Feto/anormalidades , Feto/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Anormalidades Urogenitais/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Gravidez
13.
Fetal Pediatr Pathol ; 38(1): 63-71, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30585108

RESUMO

INTRODUCTION: A range of cerebrocortical development malformations (MCD) ranging from simplified gyral patterns to the complete loss of gyri and sulci is associated with mutations in a cluster of highly homolog ß-tublin genes, such as TUBB2A and TUBB2B. CASE REPORT: The fetus had pachygyria, asymmetrical perisylvian polymicrogyria, dysplasia of the lateral sulcus and insula, agenesis of the splenium and partial agenesis of the body corpus callosum, cerebellar superior vermian hypoplasia with agenesis of the inferior vermis. Karyotype and microarray were normal. Trio Medical Exome Sequencing detected a de novo novel heterozygous mutation c.862G > A (p.E288K) in the tubulinpathy genes. Long-range PCR and Sanger sequencing specific for TUBB2A and TUBB2B gene detected a heterozygous variant c.862G > A specific to TUBB2B. CONCLUSION: The combination of LR-PCR amplification and medical exome sequencing allows mutational assessment in tubulinopathy genes. Our study expands the spectrum of malformations associated with mutations in the ß-tubulin gene TUBB2B.


Assuntos
Análise Mutacional de DNA/métodos , Lisencefalia/genética , Reação em Cadeia da Polimerase/métodos , Tubulina (Proteína)/genética , Sequenciamento Completo do Exoma/métodos , Feto/anormalidades , Humanos , Mutação
14.
Diagn Interv Imaging ; 100(2): 109-116, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30527913

RESUMO

PURPOSE: The purpose of this study was to compare non-invasive high-spatial-resolution postmortem cardiac magnetic resonance imaging (MRI) and autopsy findings for evaluating the septal insertion of atrioventricular valves in fetuses. MATERIALS AND METHODS: Five fetal heart specimens including two normal hearts, one heart with complete atrioventricular septal defect (AVSD) and two hearts with linear insertion of atrioventricular valves (LIAVV; gestational age 17 to 34 weeks) were studied with cardiac MRI using a 4.7 T MRI scanner without sample preparation. Three (3D) and two-dimensional (2D) turbo-RARE (rapid imaging with refocused echoes) sequences in four-chamber and left-ventricular long-axis planes were obtained with a minimal isotropic/in-plane resolution of 156µm. Nonparametric tests were performed to compare the distance between insertions of medial leaflets of the atrioventricular valves and the inlet/outlet distance ratio between MRI and autopsy findings in normal, complete AVSD and with linear insertion of atrioventricular valves (LIAVV) fetal hearts. RESULTS: Despite apparent differences between LIAVV/normal hearts, no significant differences were found between differential insertion of medial leaflets and inlet/outlet distance ratios with both techniques. Very good to excellent reliability between both techniques was found for differential insertion (ICC: 87.2%; 95% CI: -21.7%, 99.1%) (P=0.963) and inlet/outlet distance ratio (ICC 98.3%; 95%CI: 85.2%, 99.8%) (P=0.537) measurements. CONCLUSION: Postmortem cardiac MRI could replace autopsy for assessing normal or abnormal septal insertion of atrioventricular valves in fetuses without requiring specific preparation of the heart.


Assuntos
Feto/anormalidades , Feto/diagnóstico por imagem , Defeitos dos Septos Cardíacos/diagnóstico por imagem , Valvas Cardíacas/anormalidades , Valvas Cardíacas/diagnóstico por imagem , Imagem por Ressonância Magnética , Cadáver , Estudos de Viabilidade , Humanos , Imagem por Ressonância Magnética/métodos
15.
Biomed Res Int ; 2018: 4032543, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30581852

RESUMO

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases. To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features. Most of them are autosomal recessive, while only the subtype 10 (JBTS10) is a quite rare X-linked recessive disorder caused by OFD1 mutations with few reports. In this study, by using whole exome sequencing (WES), a novel OFD1 splicing mutation (c.2488+2T>C) was identified in a male fetus with suspected Dandy-Walker variant (DWV) and syndactyly, for whom abnormal karyotype and pathogenic CNV have been excluded. This mutation was inherited from the mother who has experienced two similar pregnancies before. An abnormal skipping of exon 18 in OFD1 mRNA was confirmed by RT-PCR and sequencing. Result from quantitative RT-PCR also showed that total OFD1 mRNA in the index fetus was significantly lower than the control. After a combined analysis of genetic testing results and genotype-phenotype correlations, the novel mutation c.2488+2T>C in OFD1 was considered to be the genetic cause for the affected fetus. Thus the diagnosis should be JBTS10 rather than the primary clinical diagnosis of DWV. We report the first prenatal case of JBTS10 in Chinese population, which not only helps the family to predict recurrence risks for future pregnancies but also provides more information for understanding such a rare disease. The results also present evidence that WES is an effective method in prenatal diagnosis for those fetuses with Joubert syndrome.


Assuntos
Doenças Cerebelares/diagnóstico , Doenças Cerebelares/genética , Síndrome de Dandy-Walker/genética , Feto/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Mutação/genética , Proteínas/genética , Processamento de RNA/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Exoma/genética , Éxons/genética , Feminino , Estudos de Associação Genética/métodos , Humanos , Masculino , Linhagem , Gravidez , Diagnóstico Pré-Natal/métodos , Sequenciamento Completo do Exoma/métodos
16.
Medicine (Baltimore) ; 97(38): e12437, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30235725

RESUMO

Fetal adducted thumbs have been described in association with hydrocephalus and other abnormalities, but in cases without other structural malformations the determination of prognosis and recurrence risk is challenging. The aim of our study is to analyze the characteristics, natural history, and postnatal outcome of such cases.A retrospective study was conducted over a period of 4 years in a tertiary referral center. All fetuses diagnosed as adducted thumbs without other structural malformations comprised the study group. Prenatal sonographic features and neonatal outcome are documented.There were 4 cases of fetal adducted thumbs diagnosed during the study period. No cases demonstrated other structural malformations throughout the gestation. A smaller head was noted in 2 cases during the follow-up, and all cases presented with polyhydramnios on the first or ensuing scans. Three cases died after birth due to swallowing or breathing difficulty, and the surviving 1 showed convulsion and mental retardation.Fetal adducted thumb might be an early and specific sonographic marker of impaired neurodevelopment. Close follow-up and genetic investigation should be performed in these cases. Ultrasound examination plays an important role in the prenatal diagnosis and counseling of cases without detailed prenatal genetic analysis.


Assuntos
Feto/diagnóstico por imagem , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico por imagem , Deformidades da Mão/diagnóstico por imagem , Deficiência Intelectual/diagnóstico por imagem , Transtornos do Neurodesenvolvimento/diagnóstico por imagem , Diagnóstico Pré-Natal/instrumentação , Paraplegia Espástica Hereditária/diagnóstico por imagem , Polegar/anormalidades , Polegar/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Variações do Número de Cópias de DNA/genética , Feminino , Feto/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/mortalidade , Idade Gestacional , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/mortalidade , Imagem por Ressonância Magnética/métodos , Masculino , Poli-Hidrâmnios/diagnóstico por imagem , Gravidez , Estudos Retrospectivos , Paraplegia Espástica Hereditária/genética , Paraplegia Espástica Hereditária/mortalidade , Polegar/patologia
17.
Ginekol Pol ; 89(4): 205-10, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29781076

RESUMO

OBJECTIVES: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. MATERIAL AND METHODS: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free ß-human chorionic gonadotropin (fß-hCG) and pregnancy-associated plasma protein-A (PAPP-A). RESULTS: 87% of patients were evaluated using all the additional ultrasound markers and 97% of patients were assessed using at least two markers, in any combination. 70.5% of patients were also evaluated using maternal serum biochemistry. The most common risk calculation used nuchal translucency, FHR, all additional ultrasound markers, fß-hCG and PAPP-A in 851 (62.7%) of cases. The adjusted risk of trisomy 21 was greater than 1:100 in 65 (4.8%) women. Of these patients, 58 (87.7%) chose to have an invasive test. There were 24 aneuploid fetuses (1.7%); and from these we identified 12 (50%) trisomy 21, 6 (25%) sex chromosome anomalies, with the remainder being triploidy and trisomy 18/13. The combined test detected 11 of the 12 cases as having trisomy 21, with a first trimester detection rate of 91.7%. 39 fetuses (2.8%) had various types of structural anomalies. CONCLUSIONS: The combined test enhanced with all additional ultrasound markers did not show any substantial improvement in T21 detection rate, when compared with using only one of the additional markers.


Assuntos
Aneuploidia , Transtornos Cromossômicos/diagnóstico , Síndrome de Down/diagnóstico , Feto/anormalidades , Testes Genéticos/métodos , Medição da Translucência Nucal , Adolescente , Adulto , Biomarcadores , Feminino , Predisposição Genética para Doença , Humanos , Gravidez , Primeiro Trimestre da Gravidez/genética , Diagnóstico Pré-Natal/métodos , Estudos Prospectivos , Medição de Risco , Ultrassonografia , Adulto Jovem
18.
Fetal Pediatr Pathol ; 37(3): 177-183, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29737941

RESUMO

OBJECTIVE: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. MATERIALS AND METHODS: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases. We evaluated cases for presence of DNA methylation pathway-related gene polymorphisms. RESULTS: We demonstrated that renal abnormalities and disorders exist in 75% of the cases. Pulmonary system anomalies and single umbilical artery were the most frequently observed associated abnormalities. Polymorphisms with known reduced MTHFR activity were found in 81.8% (9/11) of the cases.Association between urinary system abnormalities and polymorphisms with known reduced MTHFR activity was observed in 88.8% (8/9) of the cases. CONCLUSION: Physicians should keep in mind that polymorphisms with known reduced MTHFR activity may be associated with urinary tract abnormalities and OAH.


Assuntos
Feto/anormalidades , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Oligo-Hidrâmnio/genética , Sistema Urinário/anormalidades , Feminino , Humanos , Polimorfismo de Nucleotídeo Único , Gravidez , Estudos Retrospectivos
19.
BMJ Open ; 8(3): e020815, 2018 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-29500216

RESUMO

OBJECTIVE: This study aims to explore the perspectives of professionals around the issue of termination of pregnancy for non-lethal fetal anomaly (TOPFA). METHODS: Semi-structured interviews were undertaken with medical professionals (14 consultants in fetal medicine, obstetrics, neonatology and paediatrics) and social care professionals (nine individuals with roles supporting people living with impairment) from the Northeast of England. Analysis adopted an inductive thematic approach facilitated by NVivo. RESULTS: The overarching theme to emerge from the interview data was of professionals, medical and social care, wanting to present an acceptable self-image of their views on TOPFA. Professionals' values on 'fixing', pain and 'normality' influenced what aspects of moral acceptability they gave priority to in terms of their standpoint and, in turn, their conceptualisations of acceptable TOPFA. Thus, if a termination could be defended morally, including negotiation of several key issues (including 'fixing', perceptions of pain and normality), then participants conceptualised TOPFA as an acceptable pregnancy outcome. CONCLUSION: Despite different professional experiences, these professional groups were able to negotiate their way through difficult terrain to conceptualise TOPFA as a morally acceptable principle. While professionals have different moral thresholds, no one argued for a restriction of the current legislation. The data suggest that social care professionals also look at the wider social context of a person with an impairment when discussing their views regarding TOPFA. Medical professionals focus more on the individual impairment when discussing their views on TOPFA.


Assuntos
Aborto Induzido/ética , Feto/anormalidades , Corpo Clínico/psicologia , Negociação , Assistentes Sociais/psicologia , Inglaterra , Feminino , Humanos , Entrevistas como Assunto , Percepção , Gravidez , Resultado da Gravidez , Pesquisa Qualitativa
20.
Birth Defects Res ; 110(2): 87-91, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29377643

RESUMO

BACKGROUND: Many different causes of malformations have been established. The surveillance of a consecutive population of births, including stillbirths and elective terminations of pregnancy because of fetal anomalies, can identify each infant with malformations and determine the frequency of the apparent etiologies. This report is a sequel to the first such analysis in the first 10 years of this Active Malformations Surveillance Program (Nelson and Holmes, ). METHODS: The presence of malformations was determined among 289,365 births over 41 years (1972-2012) at the Brigham and Women's Hospital in Boston. The abnormalities were identified from the review of the examination findings of the pediatricians and consultants and diagnostic testing for the live-born infants and the autopsies of the fetuses in elective terminations and stillbirths. RESULTS: A total of 7020 (2.4%) infants and fetuses with one or more malformations were identified with these apparent etiologies in 26.6%: Mendelian disorders, including infants with postaxial polydactyly, type B; chromosome abnormalities; vascular disruption; complications of monozygous twinning; and environmental factors. The malformations of unknown etiology were a much larger group. CONCLUSION: While several causes of malformations have been identified, many remain unexplained. Combining the ascertainment in a future surveillance programs with genome sequencing and chromosome microarray analysis will increase significantly the number of malformations attributed to genetic mechanisms. Birth Defects Research 110:87-91, 2018.© 2018 Wiley Periodicals, Inc.


Assuntos
Aberrações Cromossômicas/embriologia , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Boston/epidemiologia , Anormalidades Congênitas/genética , Feminino , Desenvolvimento Fetal/genética , Feto/anormalidades , Humanos , Transmissão Vertical de Doença Infecciosa , Exposição Materna , Gravidez , Diagnóstico Pré-Natal
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