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1.
Epidemiol Prev ; 45(3): 196-204, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34212701

RESUMO

OBJECTIVES: to assess the potential of a new algorithm based on current healthcare databases to identify potential cases of malformation, particularly chromosomal anomalies associated with terminations of pregnancy. DESIGN: retrospective observational study. SETTING AND PARTICIPANTS: Registry of Congenital Anomalies of Milan, live births, still births, and termination of pregnancies for fetal anomalies from 2012 to 2016, detected by using current healthcare data. MAIN OUTCOME MEASURES: prevalence between 2012 and 2016 of congenital malformations recorded by Milan's Registry of Congenital Anomalies, with particular regard to chromosomal anomaly trends. Variation in the percentage of malformations detected from terminations of pregnancy. RESULTS: prevalence of malformations increased from 270 in 2012 to 283 per 10,000 in 2016; specifically, chromosomal abnormalities increased from 35 to 51 per 10,000 births. The algorithm detected a greater proportion of anomalies associated with therapeutic abortion, especially with respect to chromosomal anomalies, with an increase from 57.7% in 2012 to 75.8% in 2016 (test for trend p=0.002). CONCLUSIONS: the proposed algorithm identified a greater number of chromosomal anomalies that caused termination of pregnancy and may be applied to existing Italian registries to evaluate the quality of healthcare services, in particular with regard to the effectiveness of prenatal trisomy screening policies. The algorithm may also be used where no active surveillance systems are present, as well as in epidemiological studies, to assess environmental impact on congenital anomalies.


Assuntos
Algoritmos , Aberrações Cromossômicas , Anormalidades Congênitas , Diagnóstico Pré-Natal , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Feminino , Humanos , Itália/epidemiologia , Gravidez , Prevalência , Sistema de Registros , Reprodutibilidade dos Testes , Estudos Retrospectivos
2.
BMJ Case Rep ; 14(7)2021 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-34244192

RESUMO

Uterine scar dehiscence with underlying placenta is often misdiagnosed as placenta accreta spectrum both prenatally and intraoperatively due to the absence of myometrial tissue in the area. Misdiagnosis generates obstetric anxiety and results in overtreatment which carries a risk of iatrogenic injury. We present a case of the antenatal diagnosis of uterine dehiscence in a 36-year-old woman with a history of two caesarean deliveries and a low-lying placenta. We further describe the sonographic features useful for differentiating this condition from placenta accreta spectrum in instances where the placenta lies under an area of full thickness uterine scar dehiscence.


Assuntos
Placenta Acreta , Placenta Prévia , Adulto , Cesárea/efeitos adversos , Feminino , Humanos , Placenta/diagnóstico por imagem , Placenta Acreta/diagnóstico por imagem , Placenta Acreta/cirurgia , Placenta Prévia/diagnóstico por imagem , Placenta Prévia/cirurgia , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 613-619, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247362

RESUMO

Genomic disorders caused by pathogenic copy number variation (pCNV) have proven to underlie a significant proportion of birth defects. With technological advance, improvement of bioinformatics analysis procedure, and accumulation of clinical data, non-invasive prenatal screening of pCNV (NIPS-pCNV) by high-throughput sequencing of maternal plasma cell-free DNA has been put to use in clinical settings. Specialized standards for clinical application of NIPS-pCNV are required. Based on the discussion, 10 pCNV-associated diseases with well-defined conditions and 5 common chromosomal aneuploidy syndromes are recommended as the target of screening in this consensus. Meanwhile, a standardized procedure for NIPS-pCNV is also provided, which may facilitate propagation of this technique in clinical settings.


Assuntos
Ácidos Nucleicos Livres , Variações do Número de Cópias de DNA , Aneuploidia , Ácidos Nucleicos Livres/genética , Consenso , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Gravidez , Diagnóstico Pré-Natal
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 659-662, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247372

RESUMO

OBJECTIVE: To analyze the prenatal diagnosis, parental verification and pregnancy outcome of 6 fetuses with 22q11.2 microdeletion syndrome. METHODS: Copy number variation sequencing (CNV-seq)and chromosomal microarray analysis (CMA) were carried out for the fetuses. RESULTS: The fetuses were found to harbor 2.54-3.2 Mb microdeletions of the 22q11.2 region, among which one was maternally inherited and one was paternally inherited. Two parents opted to continue with the pregnancy, and 4 chose induced labor. One fetus was found to have tetralogy of Fallot, while two carrier parents and one fetus appeared to have normal phenotype. CONCLUSION: 22q11.2 microdeletions identified upon prenatal diagnosis should be treated carefully, with ultrasonic scan and parental verification taken into account.


Assuntos
Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal , Feminino , Feto , Humanos , Análise em Microsséries , Gravidez , Resultado da Gravidez , Ultrassonografia Pré-Natal
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 694-698, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247381

RESUMO

As a prenatal testing for chromosomal abnormalities, non-invasive prenatal testing (NIPT) has been integrated into prenatal healthcare service. NIPT has shown a high sensitivity and specificity for screening fetal trisomies 13, 18 and 21, and has attained excellent clinical results. With the propagation of the NIPT screening, international organizations have issued guidelines and comments for its clinical utility with regular updating. China has also developed guidelines for NIPT in 2016. NIPT guidelines in various countries have provided valuable guidance for its target diseases and suitable patient groups, but there has been few research data on its clinical application for special groups of patients. Based on the guidelines and comments of various professional bodies and published data on the clinical utility of NIPT, in addition with consideration of the conditions in China, clinical utility of NIPT for particular groups of pregnant women, including those with advanced maternal age, obesity, twin pregnancy and fetal ultrasonographic anomalies, are reviewed. The value of genetic counseling for NIPT is also emphasized, which is critical for the clinical application of NIPT.


Assuntos
Gestantes , Diagnóstico Pré-Natal , China , Aberrações Cromossômicas , Feminino , Humanos , Gravidez , Síndrome da Trissomia do Cromossomo 13
6.
Orv Hetil ; 162(29): 1156-1165, 2021 07 18.
Artigo em Húngaro | MEDLINE | ID: mdl-34274918

RESUMO

Összefoglaló. Bevezetés és célkituzés: A gyakori autoszomális trisomiák és a nemi kromoszómaeltérések a mikroszkóppal észlelheto kromoszóma-rendellenességek kb. 80-85%-át képviselik. A ritka kromoszóma-rendellenességek klinikai következménye jelentos, kimutatásukat a jelenlegi szurovizsgálatok ugyan nem célozzák, de a teljes kromoszómaszerelvényt vizsgáló, nem invazív praenatalis tesztelés új lehetoséget nyitott a korai felismerésükre. Módszer: Retrospektív analízis (2014-2019) a mikroszkóppal kimutatható kromoszóma-rendellenességek eloszlására, a fetoplacentaris mozaikosság elofordulására, klinikai összefüggéseire a praenatalis vizsgálatok tükrében egy hazai tercier centrumban. Eredmények: 2504 invazív beavatkozást végeztünk és 200 kromoszómaeltérést mutattunk ki (8%), melyek közül újonnan kialakult, ritka rendellenesség 27 volt (13,5%). Ritka autoszomális trisomia 14, poliploidia 6, de novo szerkezeti kromoszómaeltérés 5, marker kromoszóma 2 esetben igazolódott. A fetoplacentaris mozaikosság aránya a gyakori/ritka kromoszómaeltérésekben 12,4%/77,8% volt (p = 0,001), 17/40 esetben lepényre korlátozódott. A gyakori trisomiákkal kóros tarkóredo-vastagság 58%-ban, major ultrahangeltérés 35%-ban társult, melyek jelentosen különböztek a ritka kromoszómaeltérésekben (11%, p = 0,006; 67%, p = 0,047). A ritka kromoszómaeltérések jellemzo praenatalis major ultrahangeltérése a facialis dysmorphismus volt. A teljes kromoszómaszerelvényt vizsgáló praenatalis tesztelés a ritka kromoszómaeltérések 12 lepényi mozaikos esetében (44%) feltételezhetoen álpozitív, 1 esetben (3,7%) álnegatív eredményt generált volna, miközben a ritka autoszomális trisomiák 2 esetében ultrahangeltérés nélkül is korán detektálta volna a ritka magzati kromoszómaeltérést (7,4%). Következtetés: A normális tarkóredo-vastagság esetén észlelt major ultrahangeltérések felhívhatják a figyelmet a döntoen mozaikos ritka kromoszóma-rendellenességekre. A teljes kromoszómaszerelvényt vizsgáló, nem invazív szuroteszt a korai diagnosztika alternatívája lehet, a mozaikosságból adódó álpozitív eredményekre azonban számítani kell. A fetoplacentaris mozaikosság ismerete fontos klinikai információt biztosít, mely befolyásolhatja a terhesség kimenetelét, a terhesség követésének módját. A pontos citogenetikai karakterizálás elengedhetetlen. Orv Hetil. 2021; 162(29): 1156-1165. INTRODUCTION AND OBJECTIVE: To determine the prevalence of microscopically visible de novo atypical chromosomal aberrations and fetoplacental mosaicism in a prenatal tertial referral center, and to investigate the maternal and fetal characteristics in connection with genomewide non-invasive prenatal screening. METHOD: Retrospective cohort study from 2014 to 2019 of pregnancies with invasive genetic analysis. RESULTS: In the cohort of 2504 cases, the proportion of CVS was 53.3%. We diagnosed 200 chromosomal aberrations (8%), including 13.5% of de novo rare chromosomal aberrations (14 rare autosomal trisomies, 6 polyploidies, 5 structural aberrations and 2 small supernumerary marker chromosomes). The rate of fetoplacental mosaicism was 12.4%/77.8% in common/atypical chromosomal aberrations (p = 0.001) and confined to placenta in 17/40 cases. Associated ultrasound abnormalities were abnormal nuchal translucency and major malformations in 58% and 35% with common trisomies and 11% (p = 0.006) and 67% (p = 0.047) with true mosaic cases of rare abnormalities, respectively. Major ultrasound malformation was facial dysmorphism with rare aberrations. Potential application of genomewide non-invasive prenatal test in atypical chromosomal aberrations presumably would have been false-positive in 12 cases (44%), false-negative in 1 case (3.7%), and would have early detected 2 cases of rare autosomal trisomies (7.4%) without ultrasound anomalies. CONCLUSION: Structural ultrasound malformations with normal nuchal translucency thickness may be indicative of rare chromosomal aberrations. Application of genomewide non-invasive prenatal test is an alternative of early diagnostic methods with a potential of discordant results due to mosaicism. Knowledge about the presence of fetoplacental mosaicism influences risk estimation and genetic counseling, detailed cytogenetic characterization is of utmost importance. Orv Hetil. 2021; 162(29): 1156-1165.


Assuntos
Mosaicismo , Diagnóstico Pré-Natal , Feminino , Humanos , Masculino , Gravidez , Prevalência , Estudos Retrospectivos , Ultrassonografia
7.
BMJ Glob Health ; 6(6)2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34117012

RESUMO

Zika virus (ZIKV) is a vectorborne infectious agent of global public health significance due to its potential to cause severe teratogenic outcomes. The question of whether health systems should consider adopting screening programmes for ZIKV infections during pregnancy warrants consideration. In this analysis, we apply the Wilson-Jungner framework to appraise the potential utility of a prenatal ZIKV screening programme, outline potential screening strategies within the case-finding pathway, and consider other epidemiological factors that may influence the planning of such a screening programme. Our evaluation of a potential prenatal ZIKV screening programme highlights factors affirming its usefulness, including the importance of Congenital Zika Syndrome as a public health problem and the existence of analogous congenital prenatal screening programmes for STORCH agents (syphilis, toxoplasmosis, others (eg, human immunodeficiency virus, varicella-zoster virus, parvovirus B19), rubella, cytomegalovirus, and herpes simplex virus). However, our assessment also reveals key barriers to implementation, such as the need for more accurate diagnostic tests, effective antiviral treatments, increased social service capacity, and surveillance. Given that the reemergence of ZIKV is likely, we provide a guiding framework for policymakers and public health leaders that can be further elaborated and adapted to different contexts in order to reduce the burden of adverse ZIKV-related birth outcomes during future outbreaks.


Assuntos
Epidemias , Viroses , Infecção por Zika virus , Zika virus , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Viroses/epidemiologia , Infecção por Zika virus/diagnóstico , Infecção por Zika virus/epidemiologia , Infecção por Zika virus/prevenção & controle
8.
Medicine (Baltimore) ; 100(24): e26092, 2021 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-34128846

RESUMO

RATIONALE: Fetal alloimmune thrombocytopenia (FAIT) is a serious life-threatening disease caused by platelet-antigen incompatibility between the mother and fetus. FAIT can lead to fetal thrombocytopenia, intracranial hemorrhage (ICH), fetal death and severe neurological disorders after birth. Noninvasive prenatal diagnosis technology has not been widely used in China, and thus few cases of FAIT can be diagnosed prenatally. In this study, we report a case of prenatal diagnosis and treatment of FAIT. PATIENT CONCERNS: A 29-year-old female was admitted at 32 weeks' gestational age (GA). Fetal ultrasound at 32 weeks' GA showed a hemorrhagic focus area in the left lateral ventricle and the sign of severe fetal anemia. Hence, fetal umbilical cord puncture was ordered to identify the etiology. DIAGNOSES: The fetal cord blood test revealed a normal hemoglobin level but severe fetal thrombocytopenia (platelet count, 23 × 109/L). Antibodies of human platelet antigens and human leukocyte antigens between mother and fetus were positive, and thus the diagnosis of FAIT was confirmed. INTERVENTIONS: The patient refused intravenous immunoglobulin (IVIG) therapy owing to financial consideration. She was treated with dexamethasone acetate tablets (Xianju Company, China) 0.75 mg twice a day until delivery and cesarean section was performed at 34 weeks' GA. The newborn received postnatal anti-platelet antibody treatment. OUTCOMES: The platelet count of the newborn progressively decreased until the third day after birth and it increased to normal level after postnatal treatment. The neonatal cerebral ultrasound showed the area of hemorrhage was in the process of absorption. During the postnatal one-year follow-up, the neonate showed normal developmental milestones and had no abnormal signs of neurological symptoms. LESSONS: For FAIT, the fetal umbilical cord puncture can be carried out by skilled fetal medical teams. Dexamethasone acetate tablets can be an alternative choice for patients from underdeveloped areas.


Assuntos
Sangue Fetal/imunologia , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal/métodos , Trombocitopenia Neonatal Aloimune/diagnóstico , Adulto , Antígenos de Plaquetas Humanas/sangue , Antígenos de Plaquetas Humanas/imunologia , Feminino , Doenças Fetais/imunologia , Antígenos HLA/sangue , Antígenos HLA/imunologia , Humanos , Recém-Nascido , Contagem de Plaquetas , Gravidez , Trombocitopenia Neonatal Aloimune/imunologia
9.
Medicine (Baltimore) ; 100(25): e26331, 2021 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-34160397

RESUMO

ABSTRACT: Mosaicism can be observed in karyotype analyses of amniotic fluid cells. Differentiating between true mosaicism and pseudomosaicism and determining mosaic proportions can help avoid misjudgments by doctors and effectively reduce mental and physical harm to pregnant women. However, the detection of mosaicism and mosaic proportions via karyotype analysis and fluorescence in situ hybridization (FISH) is extremely complex. We have developed a novel approach, "segmental duplication quantitative fluorescent PCR" (SD-QF-PCR), to detect mosaicism and mosaic proportions.In this study, twenty control samples and fourteen mosaic samples were tested by first-line karyotype analysis; by second-line karyotype analysis, SD-QF-PCR and FISH were used to reassess fetal sex chromosome mosaicism and mosaic proportions.Detection of the 20 control samples by second-line karyotype analysis via FISH and SD-QF-PCR showed normal and consistent results. Among the 14 mosaic samples, the numbers of samples showing true mosaicism and pseudomosaicism detected by the three methods were 6 and 8, respectively.Our study demonstrates that SD-QF-PCR can be used as a complementary method to traditional cytogenetic analysis of amniotic fluid mosaics and has clinical application value.


Assuntos
Cariotipagem/métodos , Mosaicismo , Reação em Cadeia da Polimerase/métodos , Diagnóstico Pré-Natal/métodos , Aberrações dos Cromossomos Sexuais , Amniocentese , Líquido Amniótico/citologia , Células Cultivadas , Estudos de Viabilidade , Feminino , Humanos , Hibridização in Situ Fluorescente , Gravidez , Cultura Primária de Células
10.
Pan Afr Med J ; 38: 310, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34178228

RESUMO

Introduction: genetic diseases and congenital anomalies place a significant burden on the health of new-borns and their mothers. Despite the availability of a variety of prenatal screening tests, mothers' knowledge has been documented to determine uptake. This study aims to assess the knowledge of pregnant women about birth defects and the associated correlates with regard to willingness to do prenatal screening. Methods: a cross-sectional descriptive study was conducted among 422 antenatal mothers recruited sequentially as they attended antenatal clinics at the Lagos University Teaching Hospital. An interviewer-administered questionnaire was used to determine their knowledge of birth defects and willingness to do prenatal testing. Results: majority of the participants (92.2%) had at least secondary education. The mean total knowledge score of the respondents was 63%. Age and knowledge scores were not significantly correlated (r=-0.071, p=0.14). Being employed predicted higher knowledge scores (95% CI: 0.09, 2.09, p=0.03). Respondents who had primary school education and those who replied "I don't know" to willingness to test had significantly lower knowledge scores (95% CI: -15.01, -1.19, p=0.02 and 95% CI: -4.52, -0.68, p=0.01 respectively). Majority (79.1%) of the respondents were willing to undergo testing. Respondents' level of education was significantly associated with willingness to test (p=0.03). Conclusion: the observed knowledge gaps were considerable. There is need for improvement in education, the empowerment of women and access to quality healthcare including prenatal screening.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Cuidado Pré-Natal/psicologia , Diagnóstico Pré-Natal/psicologia , Adolescente , Adulto , Idoso , Anormalidades Congênitas/diagnóstico , Estudos Transversais , Feminino , Doenças Genéticas Inatas/diagnóstico , Hospitais de Ensino , Humanos , Pessoa de Meia-Idade , Nigéria , Gravidez , Gestantes/psicologia , Inquéritos e Questionários , Adulto Jovem
11.
Pan Afr Med J ; 39: 9, 2021.
Artigo em Francês | MEDLINE | ID: mdl-34178237

RESUMO

We conducted a study of five patients with congenital diaphragmatic hernia (CDH) in the department of antenatal diagnosis over a period of two years. Our study highlights the overall benchmarks for this disease and its management as well as the news on prenatal assessment of neonatal prognosis using Lung Over Head Ratio (LHR): ultrasound versus magnetic resonance imaging (MRI) in the third world. The purpose of this study is to evaluate the prognosis of these new-born babies and support parents of a fetus with diaphragmatic hernia.


Assuntos
Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Diagnóstico Pré-Natal , Prognóstico , Estudos Prospectivos , Adulto Jovem
12.
Eur J Obstet Gynecol Reprod Biol ; 262: 239-247, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34091159

RESUMO

INTRODUCTION: Alongside initial screening obstetric US, use of placental MRI has been increasing in the last few decades to aid with antenatal diagnosis and delivery planning in Placenta Accreta Spectrum (PAS). The aim of this study was to determine if the MRI pathophysiological sign subcategories described in the current literature can predict the severity of pathologic diagnosis. METHODS: Institutional imaging records were reviewed for placental MRIs performed for suspicion of PAS in the last decade. Electronic health records were searched for patient history and pathology. The 59 MRI studies were reviewed using the 11 MRI signs described by the SAR and ESUR joint consensus statement. Further breakdown of the signs was divided by underlying pathophysiologic subcategories including gross morphologic, interface and tissue architecture signs. RESULTS: Pathologic diagnosis yielded 34 cases: accreta 4/34, incerta 14/34, percreta 10/34 and normal 6/34. Of the accreta cases all of them demonstrated at least two interface and half of the cases had tissue architecture signs, 13/14 increta cases demonstrated interface signs and 12/14 demonstrated tissue architecture signs, 9/10 percreta cases had two interface and at least six demonstrated three tissue architecture signs. Statistical analysis showed significant difference between pathologic diagnosis and the number of positive interface signs with p = 0.02. DISCUSSION: Interface signs were the most objective and sensitive MRI subcategory. Statistical analysis determined there was a significant difference between PAS diagnosis and number of interface signs present. This subcategory has the most overlap with classic US signs which are traditionally used before MRI referral.


Assuntos
Placenta Acreta , Feminino , Humanos , Imageamento por Ressonância Magnética , Placenta/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Ultrassonografia Pré-Natal
14.
Arch. argent. pediatr ; 119(3): e215-e228, Junio 2021. tab, ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1223321

RESUMO

A partir del estudio seminal Management of Myelomeningocele Study en el año 2011, el cual demostró que la reparación prenatal del defecto del mielomeningocele antes de la semana 26 mejoraba los resultados neurológicos, la cirugía fetal fue incorporada dentro de las opciones de estándar de cuidado. Así, el diagnóstico prenatal del mielomeningocele dentro de la ventana terapéutica se convirtió en un objetivo obligatorio y, por ello, se intensificó la investigación de estrategias de tamizaje, sobre todo, en el primer trimestre. Además, se desarrollaron distintas técnicas de cirugía fetal para mejorar los resultados neurológicos y disminuir los riesgos maternos. El objetivo de la siguiente revisión es actualizar los avances en tamizaje y diagnóstico prenatal en el primer y segundo trimestre, y en cirugía fetal abierta y fetoscópica del mielomeningocel


A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved neurological outcomes; based on this study, fetal surgery was introduced as a standard of care alternative. Thus, prenatal myelomeningocele diagnosis within the therapeutic window became a mandatory goal; therefore, research efforts on screening strategies were intensified, especially in the first trimester. In addition, different fetal surgery techniques were developed to improve neurological outcomes and reduce maternal risks. The objective of this review is to provide an update on the advances in prenatal screening and diagnosis during the first and second trimesters, and in open and fetoscopic fetal surgery for myelomeningocele


Assuntos
Humanos , Masculino , Feminino , Gravidez , Meningomielocele/cirurgia , Feto/cirurgia , Cuidado Pré-Natal , Diagnóstico Pré-Natal , Disrafismo Espinal , Meningomielocele/diagnóstico por imagem , Terapias Fetais , Fetoscopia
15.
Int J Mol Sci ; 22(11)2021 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-34073611

RESUMO

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. Resolving a genetic diagnosis with thorough testing enables a more accurate diagnosis and more informed prognosis and should also provide information on inheritance patterns which may be of particular interest to patients of a child-bearing age. Given that IRDs are heritable conditions, genetic counselling may be offered to help inform family planning, carrier testing and prenatal screening. Additionally, a verified genetic diagnosis may enable access to appropriate clinical trials or approved medications that may be available for the condition.


Assuntos
Aconselhamento Genético , Doenças Genéticas Inatas , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Diagnóstico Pré-Natal , Doenças Retinianas , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Humanos , Doenças Retinianas/diagnóstico , Doenças Retinianas/genética
16.
Clin Lab ; 67(6)2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34107630

RESUMO

BACKGROUND: We analyzed the 2019 external quality assessment (EQA) results to evaluate the analytical performance of maternal serum prenatal screening for Down Syndrome (DS) in the first trimester in China. METHODS: In each round, five lyophilized EQA samples with detailed clinical information were distributed to participants and used to test the concentration of human chorionic gonadotropin free beta subunits (free ß-HCG) and pregnancy-associated plasma protein-A (PAPP-A) to calculate the risk value of DS. The robust coefficient of variability (CV) was calculated or test results for free ß-HCG and PAPP-A using analytes and major measurement platforms. For DS risk values, the robust CV was calculated using a professional calculation platform. Failed EQA results were analyzed using serum marker testing results and DS risk values. RESULTS: EQA results were collected from 242 laboratories in round 1 and 239 laboratories in round 2. Total acceptable rates of testing results for free ß-HCG and PAPP-A ranged from 95.04% to 97.91%. Overall acceptable rates of DS risk values ranged from 97.52% to 97.90%. The proportion of laboratories exhibiting satisfactory performance was higher in round 2 than in round 1 for serum marker testing results and DS risk values. The robust CV for risk values for each sample were significantly higher than those of serum markers. Three EQA result failure types were found, including result reporting errors, serum marker concentration testing errors, and DS risk calculation errors. CONCLUSIONS: The analytical performance of maternal serum prenatal screening for DS in the first trimester in China can be improved further.


Assuntos
Síndrome de Down , Biomarcadores , China , Gonadotropina Coriônica Humana Subunidade beta , Síndrome de Down/diagnóstico , Feminino , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Proteína Plasmática A Associada à Gravidez , Diagnóstico Pré-Natal
17.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(6): 747-751, 2021 Jun 06.
Artigo em Chinês | MEDLINE | ID: mdl-34139815

RESUMO

Objective: To discuss the prediction efficacy of Down's screening serological indicators in the second trimester of gestational hypertension (GH). Methods: 64 849 pregnant women who had undergone regular check-ups at the Beijing Obstetrics and Gynecology Hospital from June 2013 to June 2019 and finally gave birth were the subjects of the study. There were 3 808 cases of the GH group (including patients with GH, preeclampsia, and eclampsia diagnosed) and 61 041 cases of non-GH group respectively. 3 ml of fasting venous blood was drawn during 14-19 weeks of pregnancy, and body weight, serum ß-human chorionic gonadotropin (ß-HCG), free estriol (uE3) and alpha fetal protein (AFP) were obtained through physical check and laboratory testing. ß-HCG, AFP, uE3 were analyzed by using the corresponding median times of gestational age (MOM value), and multivariate logistic regression model and receiver operating characteristic curve (ROC curve) were used to analyze the predictive efficiency of serological indicators. Results: Among 64 849 research subjects, the GH group (3 808 cases) and the non-GH group (61 041) were (29.51±2.72), (29.38±2.68) years old, the weights were (65.46±12.17), (58.73±9.13) kg, gestational age of blood collection were (16.53±0.89) and (16.58±0.90) weeks respectively. The analysis of multivariate logistic regression model showed that the risk of GH increased with the increase of body weight, ß-HCG and AFP concentration, OR (95%CI) values were 1.059 (1.056-1.062), 1.329 (1.188-1.487) and 1.195 (1.125-1.269); so did when the concentration of uE3 decrease, OR (95%CI) value was 0.527 (0.464-0.599). ROC curve analysis results show that age, weight, serum AFP, ß-HCG, uE3 and multivariate diagnosis all have predictive efficiency for GH (P values<0.05); combined diagnosis of multiple indicators and weight AUC (95%CI) were 0.684 (0.675-0.693) and 0.673 (0.663-0.682), but the Youden index, sensitivity, and specificity of the two were relatively small. Conclusion: The ß-HCG, AFP and uE3 of Down's screening in the second trimester of pregnancy were relatively low in predicting GH.


Assuntos
Síndrome de Down , Hipertensão Induzida pela Gravidez , Adulto , Biomarcadores , Gonadotropina Coriônica Humana Subunidade beta , Feminino , Humanos , Hipertensão Induzida pela Gravidez/diagnóstico , Lactente , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(6): 541-544, 2021 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-34096021

RESUMO

OBJECTIVE: To explore the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with high risk signaled by non-invasive prenatal testing (NIPT). METHODS: From June 2017 to August 2019, 628 pregnant women with high risk signaled by NIPT underwent invasive prenatal diagnosis. Amniotic fluid or cord blood samples were subjected to chromosomal karyotyping analysis or CMA. Pregnancy outcome and postnatal conditions of the fetuses were followed up. RESULTS: The positive predictive value for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidy, other rare trisomies and copy number variants (CNVs) among the 628 women were 86.4% (127/147), 41.7% (30/72), 12.9% (4/31), 43.7% (101/231), 16.5% (14/85) and 52.2% (35/67), respectively. In 218 samples with normal karyotype, 5.5% (12/218) of additional pathogenic CNVs and 2.3% (5/218) of loss of heterozygosity were detected by CMA. CONCLUSION: CMA combined with karyotyping analysis can be used as first-tier test for prenatal diagnosis for women with high-risk signaled by NIPT.


Assuntos
Diagnóstico Pré-Natal , Feminino , Humanos , Cariotipagem , Análise em Microsséries , Gravidez , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18
19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(6): 569-572, 2021 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-34096028

RESUMO

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing. METHODS: G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan. RESULTS: The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent. CONCLUSION: Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.


Assuntos
Deleção Cromossômica , Diagnóstico Pré-Natal , Cromossomos , Feminino , Feto , Humanos , Cariotipagem , Gravidez
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(6): 573-576, 2021 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-34096029

RESUMO

OBJECTIVE: To determine the chromosomal karyotype of a fetus with copy number variation (CNV) of the X chromosome signaled by non-invasive prenatal testing (NIPT). METHODS: NIPT was performed on the peripheral blood sample taken from the pregnant women. Amniotic fluid and cord blood samples were subjected to conventional G banded karyotyping, and were further analyzed by high-throughput sequencing for chromosome microdeletion/microduplication. The results were then verified by fluorescence in situ hybridization (FISH) on metaphase cells. RESULTS: The NIPT test of pregnant women suggested low risk for 21-trisomy, 18-trisomy, and 13-trisomy, whilst indicated the number of chromosome X to be low. The G banded karyotype of the amniotic fluid and cord blood cells was 46,XX. The result of high-throughput sequencing chromosome microdeletion/microduplication detection was seq[hg19](X)× 1, (Y)× 2. FISH showed a clear red signal at each end of a whole chromosome, and a green signal on the other chromosome, with a karyotype of 46,X,ish idic(Y) (q11.23) (SRY++, DXZ1+). C banding showed that there is a dense and a slightly loose centromere at both ends of the Y chromosome, and the parachromatin region was missing. The karyotype of amniotic fluid and cord blood cells was finally determined to be 46,X, pus idic(Y) (q11.23). CONCLUSION: For chromosome anomalies suggested by auxiliary report of NIPT, conventional karyotyping combined with high-throughput sequencing for chromosome microdeletion/microduplication should be adopted for the prevention and reduction of the rate of chromosome microdeletion/microduplication syndromes.


Assuntos
Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal , Aberrações Cromossômicas , Feminino , Humanos , Hibridização in Situ Fluorescente , Gravidez , Cromossomo X
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