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1.
PeerJ ; 11: e14678, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36684682

RESUMO

Background: Invasive prenatal evaluation by chromosomal microarray analysis (CMA) and karyotyping might represent an important option in pregnant women, but limited reports have applied CMA and karyotyping of fetuses conceived by assisted reproductive technology (ART). This study aimed to examine the value of CMA and karyotyping in prenatal diagnosis after ART. Methods: This retrospective study included all singleton fetuses conceived by ART from January 2015 to December 2021. Anomalies prenatally diagnosed based on karyotyping and CMA were analyzed. Prevalence rates for various CMA and karyotyping results were stratified based on specific testing indications including isolated-and non-isolated ART groups. The rates of CMA findings with clinical significance (pathogenic/likely pathogenic) and karyotype anomalies were assessed and compared to those of local control individuals with naturally conceived pregnancies and without medical indications. Results: In total, 224 subjects were assessed by karyotyping and CMA. In the examined patients, chromosomal and karyotype abnormality rates were 3.57% (8/224) and 8.93% (20/224), respectively. This finding indicated a 5.35% (12/224)-incremental rate of abnormal CMA was obtained over karyotype analysis (p = 0.019). The risk of CMA with pathogenic findings for all pregnancies conceived by ART (5.80%, 13/224) was markedly elevated in comparison with the background value obtained in control individuals (1.47%, 9/612; p = 0.001). In addition, risk of CMA with clinically pathogenic results in isolated ART groups was significant higher compared to the background risk reported in the control cohort (p = 0.037). Conclusions: Prenatal diagnosis including karyotyping and CMA is recommended for fetuses conceived by ART, with or without ultrasound findings.


Assuntos
Feto , Diagnóstico Pré-Natal , Gravidez , Feminino , Humanos , Estudos Retrospectivos , Diagnóstico Pré-Natal/métodos , Cariotipagem , Análise em Microsséries/métodos , Feto/anormalidades , Cariótipo
2.
Braz. J. Biol. ; 83: 1-9, 2023. tab, graf, ilus
Artigo em Inglês | VETINDEX | ID: vti-765473

RESUMO

Previous studies have suggested that arsenic crosses the placenta and affects the fetus development. The study under consideration aims to show comparative ameliorative effect of Moringa oleifera leaf and flower extracts against sodium arsenate induced fetus toxicity of mice. Pregnant mice (N=44) were kept in lab and divided into eleven group from (A to K) and were orally administered the doses 6 mg/kg, 12 mg/kg for sodium arsenate, 150 mg/kg and 300 mg/kg for Moringa oleifera leaf extracts (MOLE) and 150 mg/kg and 300 mg/kg for Moringa oleifera flower extracts (MOFE) comparing with control. The investigation revealed evident reduction in the fetuses weight, hind limb, fore limb, tail and snout length, crown rump and head circumferences well as malformations in tail, feet, arms, legs, skin and eyes in the negative control group (only administered with sodium arsenate). Co-administration of sodium arsenate with MOLE and MOFE ameliorate the reversed effect of sodium arsenate on the shape, length, body weight and DNA damage of fetus significantly at 95% confidence interval. However, Moringa oleifera leaf extract showed more significant results in comparison to Moringa oleifera flower extract. Hence concluded that Moringa oleifera leaf extract ameliorated the embryo toxic effects of sodium arsenate and can be used against environmental teratogens.(AU)


Estudos anteriores sugeriram que o arsênio atravessa a placenta e afeta o desenvolvimento do feto. O estudo em consideração visa mostrar o efeito melhorador comparativo de extratos de folhas e flores de Moringa oleifera contra a toxicidade fetal induzida por arseniato de sódio em camundongos. Camundongos grávidas (N = 44) foram mantidos em laboratório e divididos em 11 grupos (de A a K) e foram administrados por via oral nas doses de 6 mg/kg, 12 mg/kg para arseniato de sódio, 150 mg/kg e 300 mg/kg para extratos de folhas de Moringa oleifera (MOLE) e 150 mg/kg e 300 mg/kg para extratos de flores de Moringa oleifera (MOFE) em comparação com o controle. A investigação revelou redução evidente no peso do feto, membro posterior, membro anterior, comprimento da cauda e focinho, coroa, nádega e circunferência da cabeça, bem como malformações na cauda, pés, braços, pernas, pele e olhos no grupo de controle negativo (apenas administrado com arseniato de sódio). A coadministração de arseniato de sódio com MOLE e MOFE melhora significativamente o efeito reverso do arseniato de sódio na forma, comprimento, peso corporal e dano ao DNA do feto, com intervalo de confiança de 95%. No entanto, o extrato da folha da Moringa oleifera apresentou resultados mais significativos em comparação ao extrato da flor da Moringa oleifera. Portanto, concluiu que o extrato da folha de Moringa oleifera melhorou os efeitos tóxicos do arseniato de sódio para o embrião e pode ser usado contra teratógenos ambientais.(AU)


Assuntos
Animais , Feminino , Gravidez , Camundongos , Moringa oleifera/embriologia , Ensaio Cometa/veterinária , Feto/anormalidades , Feto/efeitos dos fármacos , Lesões Pré-Natais/veterinária , Arseniatos/toxicidade
3.
Ann Diagn Pathol ; 61: 152059, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36343605

RESUMO

OBJECTIVE: The aim was to evaluate the main indications for prenatal diagnosis, the prevalence of abnormal copy number variations (CNVs), correlate them with clinical findings, analyze the prevalence of VUS, report the rare variants found and additionally highlight the clinical importance of microarray-based comparative genomic hybridization (aCGH) in prenatal diagnosis. STUDY DESIGN: We retrospectively analyzed a cohort of 772 fetuses with indication for genetic study in two tertiary hospitals, in a 9-years-period, using aCGH. RESULTS: Our results demonstrated 8.3 % (6.4-10.5 %, 95 % CI) detection rate of pathogenic CNVs. Within this group, the main indication was structural malformations (57 %) mainly involving central nervous system, skeletal and cardiac systems. Pathogenic results in cases with multiple malformations were higher than in cases with isolated anatomical system malformations showing statistical significant differences (p < 0.001). The second indication where we found more pathogenic CNVs was increased nuchal translucency (5-6.4 mm). In fact, the rate of pathogenic CNVs did not show significant differences between structural and non-structural malformations (p > 0.001), highlighting the relevance of genetic study by aCGH also in cases with no structural malformations. A total of 217 fetuses with CNVs classified as VUS were identified, mainly involving chromosomes X, 1 and 16. CONCLUSION: Our findings demonstrate 4.9 % (4.2-5.6 %, 95 % CI) increased in the diagnostic yield using aCGH compared to the use of conventional karyotype alone, confirming that the aCGH can improve the accuracy of prenatal diagnosis. Our survey provides a full genotype-phenotype analysis that can be clinically useful for the classification of variants in the context of prenatal setting, helping to provide a better reproductive genetic counselling.


Assuntos
Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Gravidez , Feminino , Humanos , Hibridização Genômica Comparativa/métodos , Estudos Retrospectivos , Diagnóstico Pré-Natal/métodos , Feto/anormalidades , Estudos de Associação Genética
4.
Genes (Basel) ; 13(11)2022 11 10.
Artigo em Inglês | MEDLINE | ID: mdl-36360323

RESUMO

With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year. We established a web-based multidisciplinary team to facilitate case selection among the expert members. We retrospectively analyzed the fetal phenotypes, test results, turnaround time and clinical impact in the first 15 whole exome sequencing and 14 whole genome sequencing. Overall, the molecular diagnostic rate was 37.9% (11/29). De novo autosomal dominant disorders accounted for 72.7% (8/11), inherited autosomal recessive disorders for 18.2% (2/11), and inherited X-linked disorders for 9.1% (1/11). The median turnaround time for ongoing pregnancy was 19.5 days (range, 13-31 days). Our study showed an overall clinical impact of 55.2% (16/29), which influenced reproductive decision-making in four cases, guided perinatal management in two cases and helped future family planning in ten cases. In conclusion, our findings support the important role of genome sequencing services in the prenatal diagnosis of fetal structural anomalies in a population setting. It is important to adopt a multidisciplinary team approach to support the comprehensive genetic service.


Assuntos
Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal , Gravidez , Feminino , Humanos , Estudos Retrospectivos , Feto/anormalidades
5.
Medicine (Baltimore) ; 101(43): e31321, 2022 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-36316869

RESUMO

RATIONALE: Fetal skeletal anomalies are one of the most common and potentially pathogenic developmental abnormalities detected by ultrasound screening. Any suspected fetal skeletal dysplasias often require further comprehensive evaluations. PATIENT CONCERNS: Here 4 families with adverse fetal skeletal system histories were enrolled, including their histories of gestation, childbirth, familial skeletal abnormalities, and pregnancy outcomes. The corresponding diagnosis were done by whole exome sequencing (WES) combined with dynamic examination. DIAGNOSIS: All of the families were definitively diagnosed through cytogenetics, molecular genetics, ultrasound, combined with multidisciplinary evaluation. Both of the fetuses in case 1 and case 2 were diagnosed with thanatophoric dysplasia type I, while the neonate in case 3 was diagnosed with Apert syndrome and a 3-years-old proband daughter with Crouzon syndrome in case 4. INTERVENTIONS: We conducted karyotyping, copy number variation sequencing (CNV-seq), combined with WES to evaluate genetic conditions of abnormal fetus, neonate or proband patient. WES was preferred to obtain a relatively definitive diagnosis. OUTCOMES: In cases 1 and 2, the families decided to choose termination of pregnancy due to fatal dysplasias. The couple in case 3, delivered a female baby diagnosed with Apert syndrome. Fortunately, in case 4, the family, which had a 3-years-old baby with Crouzon syndrome, gave birth to a healthy baby through prenatal diagnosis. LESSONS SUBSECTIONS: Invasive prenatal diagnosis and dynamic assessments for the management of fetal skeletal dysplasias could contribute to revealing possible causes of fetal skeletal abnormalities and help clinicians conduct further genetic counseling in clinical practice.


Assuntos
Acrocefalossindactilia , Disostose Craniofacial , Anormalidades Musculoesqueléticas , Osteocondrodisplasias , Gravidez , Recém-Nascido , Feminino , Humanos , Pré-Escolar , Variações do Número de Cópias de DNA , Feto/diagnóstico por imagem , Feto/anormalidades , Diagnóstico Pré-Natal , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Ultrassonografia Pré-Natal
6.
PLoS One ; 17(10): e0275674, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36260644

RESUMO

BACKGROUND: In early terminations of pregnancy for fetal anomaly (TOPFA) without identified cytogenetic abnormality, a fetal autopsy is recommended for diagnostic purposes, to guide genetic counseling. Medical induction, which allows analysis of a complete fetus, is generally preferred over surgical vacuum aspiration. Our objective was to assess the diagnostic value of fetal autopsies in these early terminations, relative to the first-trimester ultrasound, overall and by termination method. MATERIALS: For this retrospective study at the Port Royal Maternity Hospital, we identified all TOPFA performed from 11 weeks to 16 weeks diagnosed at the first-trimester ultrasound in cases with a normal karyotype. The principal endpoint was the additional value of the autopsy over /compared to the ultrasound and its impact on genetic counseling, globally and by termination method. The secondary objective was to compare the complication rate by method of termination. RESULTS: The study included 79 women during period of 2013-2017: 42 with terminations by medical induction and 37 by aspiration. Fetal autopsy found additional abnormalities in 54.4% of cases, more frequently after medical induction (77.5%) than after aspiration (21.4%, p < .01). Genetic counseling was modified in 20.6% of cases, more often after induction (32.5% vs 3.6%, p < .01). The length of stay was significantly longer and a secondary aspiration was required in 16,7% of case in the medical induction group (p < .01). CONCLUSION: Medically induced vaginal expulsion appears preferable and can change genetic counseling for subsequent pregnancies.


Assuntos
Aborto Induzido , Feto , Feminino , Gravidez , Humanos , Autopsia , Estudos Retrospectivos , Feto/diagnóstico por imagem , Feto/anormalidades , Aborto Induzido/métodos , Segundo Trimestre da Gravidez
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(10): 1076-1079, 2022 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-36184086

RESUMO

OBJECTIVE: To assess the diagnostic value of copy number variation sequencing (CNV-seq) in the genetic etiology of fetuses with nasal bone dysplasia (NBD). METHODS: A total of 217 fetuses discovered with NBD from December 2017 to December 2020 were divided into the isolated NBD group and NBD combined with other anomalies group, for which copy number variations (CNVs) were analyzed. RESULTS: A total of 40 fetal abnormalities were detected in 217 cases, with an overall abnormal rate of 18.4%. These included 31 cases with aneuploidies (14.3%, 31/217) and 9 cases with genomic CNVs (4.1%, 9/217). Five cases of trisomy 21 (3.5%, 5/144) and two CNVs cases with unknown clinical significance (1.4%, 2/144) were detected in the isolated group. As for the combined NBD group, 26 aneuploidies (35.6%, 26/73), including 19 cases with trisomy 21, 6 cases with trisomy 18, 1 case with trisomy 13, 5 cases with pathogenic CNVs (6.8%, 5/73), and 2 cases with CNVs of unknown clinical significance (2.7%, 2/73) were detected. A significant difference was detected between the two groups (P < 0.01). CONCLUSION: The detection rate of CNV-seq is high for chromosomal aneuploidies and pathogenic CNVs in fetuses with NBD, particularly in those combined with other ultrasonic abnormalities.


Assuntos
Doenças do Desenvolvimento Ósseo , Síndrome de Down , Aneuploidia , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Síndrome de Down/genética , Feminino , Feto/anormalidades , Humanos , Gravidez , Diagnóstico Pré-Natal , Trissomia
8.
Sci Rep ; 12(1): 15899, 2022 09 23.
Artigo em Inglês | MEDLINE | ID: mdl-36151134

RESUMO

Fetal aberrant right subclavian artery (ARSA) is a relatively common sonographic finding. Congenital heart disease (CHD) is the most common structural abnormality in patients with ARSA. We aimed to assess the prevalence of genetic abnormalities, particularly sequence variants, in fetuses with CHD and ARSA. By clinical phenotyping and genomic sequencing, we retrospectively reviewed all fetuses with a prenatal diagnosis of CHD combined with ARSA at a single center. As a result, we identified 30 fetuses with ARSA combined with CHD, with conotruncal anomalies being the most common (n = 12, 40%), followed by left ventricular outflow tract obstruction (n = 6, 20%) and atrioventricular septal defects (n = 6, 20%). Overall, 18 (60%) cases had a genetic diagnosis. Copy number variation sequencing analysis identified six (20%) fetuses with aneuploidy and seven (23%) with pathogenic copy-number variants. Whole-exome sequencing (WES) analysis of the remaining 17 cases revealed diagnostic genetic variants in five (29%) cases, indicating that the diagnostic yield of WES for the entire cohort was 17% (5/30). Our findings reveal the high burden of genetic abnormalities in fetal CHD with ARSA. Single-gene disorders contribute substantially to the genetic etiology of fetal CHD with ARSA.


Assuntos
Doenças Fetais , Cardiopatias Congênitas , Anormalidades Cardiovasculares , Variações do Número de Cópias de DNA , Feminino , Feto/anormalidades , Feto/diagnóstico por imagem , Cardiopatias Congênitas/genética , Humanos , Gravidez , Estudos Retrospectivos , Artéria Subclávia/anormalidades , Ultrassonografia Pré-Natal
9.
Genes (Basel) ; 13(9)2022 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-36140685

RESUMO

Congenital malformations diagnosed by ultrasound screening complicate 3-5% of pregnancies and many of these have an underlying genetic cause. Approximately 40% of prenatally diagnosed fetal malformations are associated with aneuploidy or copy number variants, detected by conventional karyotyping, QF-PCR and microarray techniques, however monogenic disorders are not diagnosed by these tests. Next generation sequencing as a secondary prenatal genetic test offers additional diagnostic yield for congenital abnormalities deemed to be potentially associated with an underlying genetic aetiology, as demonstrated by two large cohorts: the 'Prenatal assessment of genomes and exomes' (PAGE) study and 'Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study' performed at Columbia University in the US. These were large and prospective studies but relatively 'unselected' congenital malformations, with little Clinical Genetics input to the pre-test selection process. This review focuses on the incremental yield of next generation sequencing in single system congenital malformations, using evidence from the PAGE, Columbia and subsequent cohorts, with particularly high yields in those fetuses with cardiac and neurological anomalies, large nuchal translucency and non-immune fetal hydrops (of unknown aetiology). The total additional yield gained by exome sequencing in congenital heart disease was 12.7%, for neurological malformations 13.8%, 13.1% in increased nuchal translucency and 29% in non-immune fetal hydrops. This demonstrates significant incremental yield with exome sequencing in single-system anomalies and supports next generation sequencing as a secondary genetic test in routine clinical care of fetuses with congenital abnormalities.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Hidropisia Fetal , Feminino , Feto/anormalidades , Feto/diagnóstico por imagem , Humanos , Recém-Nascido , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal
10.
Genes (Basel) ; 13(9)2022 09 09.
Artigo em Inglês | MEDLINE | ID: mdl-36140791

RESUMO

BACKGROUND: There are few studies on the burden of chromosomal abnormalities and single gene disorders in fetal hemivertebra (HV). We aim to investigate the cytogenetic and monogenic risk and evaluate prenatal outcomes of fetal HV. METHOD: This study included fetuses diagnosed with HV divided into two groups: isolated HV and non-isolated HV. Data on other sonographic structural anomalies, chromosomal and sub-chromosomal abnormalities, monogenic variations detected by WES, and prenatal outcomes are recorded and reviewed. RESULTS: Among 109 fetal HV cases, forty-seven (43.1%) non-isolated HV cases were associated with structural anomalies. Chromosomal test results were available in 58 cases, identifying six (10.3%) chromosomal aberrations involved in four isolated and two non-isolated HV. WES identified four (likely) pathogenic variants in three cases among 16 fetuses with HV, involving three novel variants, 1250G > T and c.1277G> inherited from parents, respectively, in DLL3 and c.7213C > A ** in the FLNB. The live birth rate (LB) was higher in the isolated fetal HV group than in the non-isolated group (67.7% (42/62) vs. 12.5% (12/47), p < 0.001). CONCLUSION: This study emphasizes the risk of cytogenetic abnormalities in isolated HV. WES yields a diagnostic rate of 18.3% in HV with normal CMA, probably aiding the prenatal counseling and management of fetal HV.


Assuntos
Feto , Diagnóstico Pré-Natal , Aberrações Cromossômicas , Feminino , Feto/anormalidades , Feto/diagnóstico por imagem , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Proteínas de Membrana , Gravidez , Diagnóstico Pré-Natal/métodos
11.
Prenat Diagn ; 42(12): 1514-1524, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36068917

RESUMO

OBJECTIVE: To evaluate the impact of implementing commercial whole exome sequencing (WES) and targeted gene panel testing in pregnancies with fetal anomalies. METHODS: A retrospective chart review of 124 patients with sequencing performed by commercial laboratories. RESULTS: The diagnostic yield of WES and panel testing was 21.5% and 26%, respectively, based on likely pathogenic (LP) or pathogenic (P) variants. Forty-two percent of exomes and 32% of panels analysed had one or more variants of uncertain significance (VUS) reported. A multidisciplinary in-depth review of the fetal phenotype, disease phenotype, variant data, and, in some patients, additional prenatal or postnatal investigations increased the diagnostic yield by 5% for exome analysis and 6% for panel analysis. CONCLUSIONS: The diagnostic yield of WES and panel testing combined was 23% based on LP and P variants. Although the reporting of VUS contributed to a 5% increase in diagnostic yield for WES and 6% for panels, the large number of VUS reported by commercial laboratories has significant resource implications. Our results support the need for greater adherence to the recommendations on the prenatal reporting of VUS and the importance of a multidisciplinary approach that brings together clinical and laboratory expertise in prenatal genetics and genomics.


Assuntos
Exoma , Laboratórios , Gravidez , Feminino , Humanos , Estudos Retrospectivos , Feto/anormalidades , Testes Genéticos/métodos
12.
BMC Med Imaging ; 22(1): 154, 2022 09 02.
Artigo em Inglês | MEDLINE | ID: mdl-36056307

RESUMO

BACKGROUND: The aim of this study was to evaluate the accuracy and reliability of a semiautomated volumetric approach (5D CNS+™) when examining fetuses with an apparent abnormal anatomy of the central nervous system (CNS). METHODS: Stored 3D volumes extracted from a cohort of > 1.400 consecutive 2nd and 3rd trimester pregnancies (range 15-36 gestational weeks) were analyzed using the semiautomatic software tool 5D CNS+™, enabling detailed reconstruction of nine diagnostic planes of the fetal brain. All 3D data sets were examined and judged for plane accuracy, the need for manual adjustment, and fetal CNS anomalies affecting successful plane reconstruction. RESULTS: Based on our data of 91 fetuses with structural cerebral anomalies, we were able to reveal details of a wide range of CNS anomalies with application of the 5D CNS+™ technique. The corresponding anatomical features and consecutive changes of neighboring structures could be clearly demonstrated. Thus, a profound assessment of the entire altered CNS anatomy could be achieved in nearly all cases. The comparison with matched controls showed a significant difference in volume acquisition (p < 0.001) and in need for manual adjustment (p < 0.001) but not in the drop-out rates (p = 0.677) of both groups. CONCLUSION: 5D CNS+™ is applicable in the majority of cases with brain lesions and constitutes a reliable tool even if the integrity of the fetal CNS is compromised by structural anomalies. Using volume data that were acquired in identical cutting sections needed for conventional biometry allows for detailed anatomic surveys grossly independent of the examiner's experience.


Assuntos
Imageamento Tridimensional , Ultrassonografia Pré-Natal , Sistema Nervoso Central/diagnóstico por imagem , Feminino , Feto/anormalidades , Feto/diagnóstico por imagem , Humanos , Imageamento Tridimensional/métodos , Gravidez , Reprodutibilidade dos Testes , Ultrassonografia Pré-Natal/métodos
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(8): 819-823, 2022 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-35929929

RESUMO

OBJECTIVE: To explore the genetic basis for fetuses with renal anomalies. METHODS: Genomic DNA of four fetuses and their parents was extracted from amniotic fluid and peripheral blood samples and subjected to whole genome sequencing. Candidate variants were predicted according to the American College of Medical Genetics and Genomics (ACMG) guidelines and validated by SNP-array and Sanger sequencing. RESULTS: Two fetuses were found to carry a 1.45 Mb pathogenic microdeletion in 17q12 and a pathogenic 1.85 Mb microduplication at 1q21.1-21.2, respectively. One fetus was found to harbor compound heterozygous variants c.8301del (p.Asn2768Thrfs*18) and c.4481del (p.Asn1494Thrfs*6) of the PKHD1 gene, which were predicted to be pathogenic. And one fetus has harbored homozygous c.1372dup (p.Thr458Asnfs*5) variants of the BBS12 gene, which was predicted to be likely pathogenic. All variants were validated by Sanger sequencing. CONCLUSION: Whole genome sequencing can enable efficient prenatal diagnosis for fetuses with renal anomalies with high accuracy.


Assuntos
Feto , Diagnóstico Pré-Natal , Feminino , Feto/anormalidades , Humanos , Gravidez , Sequenciamento Completo do Genoma
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(7): 735-738, 2022 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-35810432

RESUMO

OBJECTIVE: To carry out genetic analysis for a family with a fetus manifesting micrognathia and a previous history for fetal micromandibular deformity. METHODS: Systematic ultrasound examination was carried out for the fetus, and the prenatal and postnatal phenotype of the first fetus were retrospectively analyzed. The fetus and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Candidate variants were verified by Sanger sequencing. RESULTS: Fetal ultrasound has indicated micrognathia. The first fetus was found to have micrognathia by prenatal ultrasonography and have featured macrosomia and dyspnea due to with tongue retraction, high palatal arch and small mandibular deformity. WES revealed that the fetus has a harbored a c.3G>C (p.Met1?) variant of the COL2A1 gene, which was inherited from the father who had myopia and retinal detachment. CONCLUSION: Stickler syndrome is mainly characterized prenatally by micrognathia, in addition with a variety of postnatal anomalies. The c.3G>C (p.Met1?) variant probably underlay the Stickler syndrome in this pedigree.


Assuntos
Oftalmopatias Hereditárias , Micrognatismo , Osteocondrodisplasias , Descolamento Retiniano , Artrite , Doenças do Tecido Conjuntivo , Feminino , Feto/anormalidades , Feto/diagnóstico por imagem , Perda Auditiva Neurossensorial , Humanos , Mutação , Linhagem , Gravidez , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/genética , Estudos Retrospectivos
15.
Ginekol Pol ; 93(8): 677-678, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35894497

RESUMO

Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital brain malformation defined as overgrowth of one cerebral hemisphere or part of it resulting from abnormal cortical development and neuronal migration. However, cortical developmental abnormalities are rarely diagnosed prenatally. This is the reason for our study, in which we describe and compare ultrasound and MRI findings in a fetus with HME.


Assuntos
Hemimegalencefalia , Malformações do Desenvolvimento Cortical , Humanos , Hemimegalencefalia/complicações , Hemimegalencefalia/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Imageamento por Ressonância Magnética , Feto/anormalidades
16.
Clin Genet ; 102(4): 262-287, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35802600

RESUMO

Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation during embryogenesis that may be associated with additional abnormalities. A systematic review was conducted to investigate genetic etiologies of non-isolated hemivertebra identified in the fetal, neonatal, and infant periods using PubMed, Cochrane database, Ovid Medline, and ClinicalTrials.gov from inception through May 2022 (PROSPERO ID CRD42021229576). The Human Phenotype Ontology database was accessed May 2022. Studies were deemed eligible for inclusion if they addressed non-isolated hemivertebra or genetic causes of non-isolated hemivertebra identified in the fetal, neonatal, or infant periods. Cases diagnosed clinically without molecular confirmation were included. Systematic review identified 23 cases of non-isolated hemivertebra with karyotypic abnormalities, 2 cases due to microdeletions, 59 cases attributed to single gene disorders, 18 syndromic cases without known genetic etiology, and 14 cases without a known syndromic association. The Human Phenotype Ontology search identified 49 genes associated with hemivertebra. Non-isolated hemivertebra is associated with a diverse spectrum of cytogenetic abnormalities and single gene disorders. Genetic syndromes were notably common. Frequently affected organ systems include musculoskeletal, cardiovascular, central nervous system, genitourinary, gastrointestinal, and facial dysmorphisms. When non-isolated hemivertebra is identified on prenatal ultrasound, the fetus must be assessed for associated anomalies and genetic counseling is recommended.


Assuntos
Feto , Anormalidades Musculoesqueléticas , Feminino , Feto/anormalidades , Aconselhamento Genético , Humanos , Lactente , Recém-Nascido , Cariotipagem , Gravidez , Estudos Retrospectivos , Coluna Vertebral/anormalidades , Ultrassonografia Pré-Natal
17.
Prenat Diagn ; 42(12): 1493-1502, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35788948

RESUMO

OBJECTIVE: We describe the prenatal ultrasound findings and autopsy of three fetuses with multiple congenital anomalies (MCA) whose diagnostic workup suggested the same genetic etiology. We conducted a literature review to corroborate the molecular results and find evidence that the identified variants are responsible for the phenotype seen. METHODS: Trio-based Exome Sequencing (ES) analysis was performed on chorionic villus samples. We reviewed available reports dealing with prenatal manifestations of genes involved in the Glycosylphosphatidylinositols (GPI) biosynthesis defects (GPIBDs). RESULTS: Prenatal findings shared by all the three pregnancies included facial dysmorphisms, brain malformations of the posterior fossa, skeletal and genitourinary anomalies. ES analysis identified homozygous variants of uncertain significance in PIGW in the three fetuses. Prenatal findings of the three pregnancies overlapped with those previously described for PIGW variants and with those associated with PIGN, PIGV and PIGA variants. CONCLUSION: Based on the phenotypic overlap between the prenatal findings in our three cases and other cases with pathogenic variants in other genes involved in GPIBDs, we speculate that the variants identified in the three fetuses are likely causal of their phenotype and that the PIGWclinical spectrum might extend to MCA, mainly involving brain, skeletal and genitourinary systems. Moreover, we suggest that also PIGW could be involved in Fryns/Fryns-like phenotypes.


Assuntos
Anormalidades Múltiplas , Hérnia Diafragmática , Deformidades Congênitas dos Membros , Feminino , Gravidez , Humanos , Facies , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Feto/diagnóstico por imagem , Feto/anormalidades , Ultrassonografia Pré-Natal , Diagnóstico Pré-Natal
18.
Neuroimaging Clin N Am ; 32(3): 663-681, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35843668

RESUMO

"Fetal brain development has been well studied, allowing for an ample knowledge of the normal changes that occur during gestation. Imaging modalities used to evaluate the fetal central nervous system (CNS) include ultrasound and MRI. MRI is the most accurate imaging modality for parenchymal evaluation and depiction of developmental CNS anomalies. The depiction of CNS abnormalities in a fetus can only be accurately made when there is an understanding of its normal development. This article reviews the expected normal fetal brain anatomy and development during gestation. Additional anatomic structures seen on brain imaging sequences are also reviewed."


Assuntos
Feto , Diagnóstico Pré-Natal , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Feminino , Feto/anormalidades , Feto/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez , Diagnóstico Pré-Natal/métodos
19.
Congenit Anom (Kyoto) ; 62(5): 198-202, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35665967

RESUMO

In recent years, the Japanese Teratology Society has worked with the DevTox Berlin Workshops project to provide internationally consistent terminology for teratogenic effects. This paper summarizes a satellite workshop of the 60th Annual Meeting of the Japanese Teratology Society, which was entitled "Current activities between DevTox Berlin Workshops to develop a harmonized terminology for classifying anomalies in laboratory animals in developmental toxicity studies." The Japanese Teratology Society - Laboratory Animal Terminology Project (JTS-LATP) reviewed "gray zone" anomalies and focused on developing criteria for reclassifying a large number of gray zone anomalies to clarify them and to make it easier to judge fetal categories. This effort will lead to international agreement, based on shared conceptions. The present article aimed to provide the reader with a summary of the issues discussed at the 2020 satellite meeting, which included discussions on open issues from the DevTox Berlin Workshops, ongoing work by the JTS-LATP on gray zone (GZ) anomalies, current industrial concerns, and future challenges.


Assuntos
Anormalidades Induzidas por Medicamentos , Animais de Laboratório/anormalidades , Teratologia , Animais , Berlim , Feto/anormalidades , Feto/efeitos dos fármacos , Japão
20.
Ciênc. Anim. (Impr.) ; 32(2): 159-167, abr.-jun. 2022. ilus
Artigo em Português | VETINDEX | ID: biblio-1402168

RESUMO

A anasarca fetal é caracterizada pelo edema generalizado do tecido subcutâneo, pela ampliação excessiva do feto, e, consequentemente, pela distocia obstrutiva durante o parto. Sua etiologia não foi elucidada, porém, acredita-se na relação da anasarca fecal com genes autossômicos recessivos, consanguinidade, malformações congênitas, dentre outros fatores. Além disso, o diagnóstico é feito por meio de ultrassonografia, pois não são observados sinais clínicos durante a gestação. Assim sendo, o objetivo deste estudo foi descrever o caso de um cão recém-nascido da raça Husky Siberiano diagnosticado com anasarca fetal. O laudo, o qual foi obtido com a realização de uma ultrassonografia, estimou a presença de seis fetos com movimentação presente e normal. Entretanto, em um dos fetos os achados ultrassonográficos foram edema e cistos repletos de líquido no tecido subcutâneo, efusão pleural e peritoneal, os quais são compatíveis com anasarca fetal. Assim, foi realizado o procedimento de cesariana programada. Devido ao edema, o filhote nasceu pesando um quilo, enquanto os outros filhotes pesavam em média 350 gramas. Apesar de nascer com batimentos cardíacos presentes, o animal veio a óbito instantaneamente após o parto. A necropsia confirmou os achados ultrassonográficos e revelou a presença de hipoplasia pulmonar. O caso relatado apresenta como causa a consanguinidade, destacando a importância de proporcionar estratégias de reprodução que visem evitar a endogamia.


Fetal anasarca is characterized by generalized swelling of the subcutaneous tissue, excessive enlargement of the fetus, and, consequently, obstructive dystocia during delivery. Its etiology has not been elucidated; however, it is believed that the fetal anasarca is related to autosomal recessive genes, consanguinity, congenital malformations, among other factors. In addition, the diagnosis is made through ultrasound, as clinical signs are not observed during pregnancy. Thus, this study aimed to describe the case of a newborn Siberian Husky dog diagnosed with fetal anasarca. The report, which was obtained with ultrasonography, estimated the presence of six fetuses with present and normal movement. However, in one of the fetuses, the sonographic findings were edema and cysts filled with liquid in the subcutaneous tissue, pleural and peritoneal effusion, which are consistent with fetal anasarca. Therefore, a scheduled cesarean section was performed. Due to the edema, the puppy was born weighing one kilo, while the other puppies weighed an average of 350 grams. Despite being born with a heartbeat, the animal died instantly after delivery. The necropsy confirmed the sonographic findings and revealed the presence of pulmonary hypoplasia. The reported case presents consanguinity as the cause, highlighting the importance of providing reproduction strategies to avoid inbreeding.


Assuntos
Animais , Feminino , Cães , Hidropisia Fetal/veterinária , Distocia/veterinária , Feto/anormalidades , Pulmão/anormalidades , Animais Recém-Nascidos/anormalidades
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