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1.
Ieva Miceikaite Christina Fagerberg Charlotte Brasch-Andersen Pernille Mathiesen Torring Britta Schlott Kristiansen Qin Hao Lene Sperling Mette Holm Ibsen Katrin Löser Eske Alf Bendsen Lilian Bomme Ousager Martin Jakob Larsen 《黑龙江环境通报》2023,43(9):1132-1141
Objective
This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies by comparing the results with conventional chromosomal microarray (CMA) analysis.Methods
A total of 40 pregnancies with fetal anomalies or increased nuchal translucency (NT ≥ 5 mm) were included between the 12th and 21st week of gestation. Trio WES/WGS and CMA were performed in all cases.Results
The trio WES/WGS analysis increased the diagnostic yield by 25% in cases with negative CMA results. Furthermore, all six chromosomal aberrations identified by CMA were independently detected by WES/WGS analysis. In total, 16 out of 40 cases obtained a genetic sequence variant, copy number variant, or aneuploidy explaining the phenotype, resulting in an overall WES/WGS diagnostic yield of 40%. WES analysis provided a more reliable identification of mosaic sequence variants than WGS because of its higher sequencing depth.Conclusions
Prenatal WES/WGS proved to be powerful diagnostic tools for fetal anomalies, surpassing the diagnostic yield of CMA. They have the potential to serve as standalone methods for prenatal diagnosis. The study highlighted the limitations of WGS in accurately detecting mosaic variants, which is particularly relevant when analyzing chorionic villus samples. 相似文献2.
Theresa Reischer Sandra Liebmann-Reindl Dieter Bettelheim Sukirthini Balendran-Braun Berthold Streubel 《黑龙江环境通报》2020,40(12):1532-1539
Objective
In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia.Materials and Methods
We enrolled 22 eukaryotic fetuses of 18 families, diagnosed with fetal akinesia between 2008 and 2016 at the Department of Obstetrics and Feto-Maternal Medicine at the Medical University of Vienna. Routine genetic evaluation included karyotyping and chromosomal microarray analysis. Retrospectively, exome sequencing was performed in the index case of 11 families, if stored DNA was available. Confirmation analyses and genetic diagnosis of siblings were performed by using Sanger sequencing.Results
Whole exome sequencing identified pathogenic variants of CNTN1, RYR1, NEB, GLDN, HRAS and TNNT3 in six cases of 11 families. In three of these families, the variants were confirmed in the respective sibling.Conclusions
The present study demonstrates a high diagnostic yield of exome sequencing in fetuses affected by akinesia syndrome, especially if family history is positive. Still, in a large part the underlying genetic cause remained unknown, whereas precise clinical evaluation in combination with exome sequencing shows to be the best tool to find the disease causing variants. 相似文献3.
We describe two fetuses from unrelated families with likely pathogenic variants in ITPR1 that presented with nonimmune fetal hydrops. Trio exome sequencing revealed a de novo heterozygous likely pathogenic missense variant c.7636G > A (p.Val2531Met) in ITPR1 (NM_001378452.1) in proband 1 and a de novo heterozygous likely pathogenic missense variant c.34G > A [p.Gly12Arg] in proband 2. Variants in ITPR1 have been associated with several genetic conditions, including spinocerebellar ataxia 15, spinocerebellar ataxia 29, and Gillespie syndrome. Our report on two patients details a previously undescribed severe fetal presentation of nonimmune hydrops fetalis associated with missense variants in the ITPR1 gene. 相似文献
4.
Trio exome sequencing was performed on a fetus presenting with severe hydrops fetalis at 21 + 0 weeks gestation. A novel de novo BICD2 missense variant was identified in the fetus. Pathogenic variants in the BICD2 gene are associated with lower extremity-predominant spinal muscular atrophy. The variant was initially classified as a variant of uncertain clinical significance (VUS) as at the time of analysis and initial report, pathogenic variants in the BICD2 gene specifically had not been associated with fetal hydrops and no other abnormalities had been detected. It was agreed in multidisciplinary team discussions to include the variant in the report as a VUS recommending phenotypic follow-up. The pregnancy was terminated and post-mortem findings were in keeping with a BICD2-pathogenic variant. In addition, a paper was published reporting another case with a pathogenic BICD2 variant presenting with fetal hydrops. The variant classification was then upgraded to class 4 likely pathogenic and reported as consistent with the diagnosis. This case demonstrates the importance of reporting these new gene/phenotypes in enabling others in the classification of variants, staying up-to-date with literature and following up phenotype for class 3 variants of interest. 相似文献
5.
Nicole Corsten-Janssen Katelijne Bouman Janouk C. D. Diphoorn Arjen J. Scheper Rianne Kinds Julia el Mecky Hanna Breet Joke B. G. M. Verheij Ron Suijkerbuijk Leonie K. Duin Gwendolyn T. R. Manten Irene M. van Langen Rolf H. Sijmons Birgit Sikkema-Raddatz Helga Westers Cleo C. van Diemen 《黑龙江环境通报》2020,40(10):1300-1309
Objective
Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study, we implemented rES in prenatal care to increase diagnostic yield.Methods
We prospectively studied 55 fetuses. Inclusion criteria were: (a) two or more independent major fetal anomalies, (b) hydrops fetalis or bilateral renal cysts alone, or (c) one major fetal anomaly and a first-degree relative with the same anomaly. In addition to conventional genetic tests, we performed trio rES analysis using a custom virtual gene panel of ~3850 Online Mendelian Inheritance in Man (OMIM) genes.Results
We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9), Zellweger (PEX1), Walker-Warburg (POMGNT1), Noonan (PTNP11), Kabuki (KMT2D), and CHARGE (CHD7) syndrome and two cases of Osteogenesis Imperfecta type 2 (COL1A1). In six cases, rES diagnosis aided perinatal management. The median turnaround time was 14 (range 8-20) days.Conclusion
Implementing rES as a routine test in the prenatal setting is challenging but technically feasible, with a promising diagnostic yield and significant clinical relevance. 相似文献6.
Ivonne Bedei Tascha Gehrke Karl-Philipp Gloning Matthias Meyer-Wittkopf Daria Willner Martin Krapp Alexander Scharf Jan Degenhardt Kai-Sven Heling Peter Kozlowski Kathrin Trautmann Kai M. Jahns Annegret Geipel Jan-Erik Baumüller Lucas Wilhelm Ingo Gottschalk Andreas Schröer Alexander Graf Aline Wolter Johanna Schenk Axel Weber Ignatia B. Van den Veyver Roland Axt-Fliedner 《黑龙江环境通报》2023,43(2):192-206
Objective
We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X.Methods
From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant.Results
We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with “variant” karyotypes had different anomalies.Conclusion
Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant. 相似文献7.
Hanane Bouchghoul Chloé Quelin Philippe Loget Féréchté Encha-Razavi Marie-Victoire Senat Lorraine Maheut Julie Galimand Sophie Collardeau-Frachon Lydie Da Costa Jelena Martinovic 《黑龙江环境通报》2018,38(10):772-778
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present. 相似文献
8.
Ivonne Bedei Karl-Philipp Gloning Luc Joyeux Matthias Meyer-Wittkopf Daria Willner Martin Krapp Alexander Scharf Jan Degenhardt Kai-Sven Heling Peter Kozlowski Kathrin Trautmann Kai M. Jahns Annegret Geipel Ismail Tekesin Michael Elsässer Lucas Wilhelm Ingo Gottschalk Jan-Erik Baumüller Cahit Birdir Andreas Schröer Felix Zöllner Aline Wolter Johanna Schenk Tascha Gehrke Alicia Spaeth Roland Axt-Fliedner 《黑龙江环境通报》2023,43(2):183-191
Objective
Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.Method
Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.Results
680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.Conclusion
TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester. 相似文献9.
We report a fetus with hydrops, congenital heart disease and bilateral radioulnar synostosis caused by a novel pathogenic MECOM variant. The female fetus was referred for post-mortem examination after fetal hydrops and intrauterine death was diagnosed at 20 weeks gestation. Post-mortem examination confirmed fetal hydrops, pallor, truncus arteriosus and bilateral radioulnar synostosis. Trio whole genome sequencing analysis detected a novel de novo heterozygous pathogenic loss-of-function variant in MECOM (NM_004991), associated with a diagnosis of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT-2). RUSAT-2 is a variable condition associated postnatally with bone marrow failure, radioulnar synostosis and congenital anomalies. RUSAT-2 is not currently associated with a prenatal phenotype or fetal demise, and was not present on diagnostic NHS prenatal gene panels at time of diagnosis. This case highlights the diagnostic value of detailed phenotyping with post-mortem examination, and of using a broad sequencing approach. 相似文献
10.
Brigitte H. W. Faas Dineke Westra Sonja A. de Munnik Maartje van Rij Carlo Marcelis Sara Joosten Ingrid Krapels Vivian Vernimmen Malou Heijligers Marjolein H. Willemsen Nicole de Leeuw Tuula Rinne Rolph Pfundt Sanne P. Smeekens Sander P. A. Stegmann Merryn Macville Esther Sikkel Audrey Coumans Lia Wijnberger Irma Derks Josefa van Lent-Albrechts Tom Hofste Raoul Timmermans Janneke van den End Servi J. C. Stevens Ilse Feenstra 《黑龙江环境通报》2023,43(4):527-543
Objective
We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.Methods
After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.Results
In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days.Conclusion
We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result. 相似文献11.
Lotte Hatt Katarina Ravn Line Dahl Jeppesen Bolette Hestbek Nicolaisen Inga Baasch Christensen Ripudaman Singh Palle Schelde Simon Horsholt Thomsen Rikke Christensen Marianne Sinding Laura Vase Marianne Oestergaard Marie Bender Ruggard Hanne S. Jensen Helle Mogensen Niels Uldbjerg Naja Becher Sara Markholt Puk Sandager Lars Henning Pedersen Ida Vogel 《黑龙江环境通报》2023,43(7):854-864
Objectives
We aimed to compare cell-based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell-free NIPT (cfNIPT).Material and Methods
Study 1: Women (N = 92) who accepted CVS were recruited for cbNIPT (53 normal and 39 abnormal). Samples were analyzed with chromosomal microarray (CMA). Study 2: Women (N = 282) who accepted cfNIPT were recruited for cbNIPT. cfNIPT was analyzed using sequencing and cbNIPT by CMA.Results
Study 1: cbNIPT detected all aberrations (32/32) found in CVS: trisomies 13, 18 and 21 (23/23), pathogenic copy number variations (CNVs) (6/6) and sex chromosome aberrations (3/3). cbNIPT detected 3/8 cases of mosaicism in the placenta. Study 2: cbNIPT detected all trisomies found with cfNIPT (6/6) and had no false positive (0/246). One of the three CNVs called by cbNIPT was confirmed by CVS but was undetected by cfNIPT, two were false positives. cbNIPT detected mosaicism in five samples, of which two were not detected by cfNIPT. cbNIPT failed in 7.8% compared to 2.8% in cfNIPT.Conclusion
Circulating trophoblasts in the maternal circulation provide the potential of screening for aneuploidies and pathogenic CNVs covering the entire fetal genome. 相似文献12.
Dr Antonio Perez-Aytes Nuria Sanchis Agnes Barbal Maria Jose Artés Julio Domene Melitina Chirivella Andres Baamonde 《黑龙江环境通报》1995,15(9):859-863
A large intrapericardial teratoma was found at necropsy in a 38−week stillborn fetus, in which prenatal diagnosis of hydrops fetalis and an ehogenic cardiac mass had been made. Clinical and pathological data are reported. In utero intrapericardial teratomata lead to different outcomes depending on whether fetal hydrops is associated. When generalized fetal hydrops is not present, the outcome is good, even in cases with large pericardial effusions. When generalized fetal hydrops occurs, it often results in a poor outcome. In our literature review, we have found eight perinatal deaths in nine similar cases reported. 相似文献
13.
R. Douglas Wilson 《黑龙江环境通报》2008,28(7):619-625
Fetal thoracic lung anomalies are rare. The specific diagnosis can be made by utilizing ultrasound, magnetic resonance imaging (MRI), and Doppler studies. Perinatal surveillance is required for large lesions and mediastinal shift regardless of the pathological diagnosis. These can cause physiological changes in the cardiovascular system with resulting hydrops. In utero therapies are variable but with no large randomized trials to compare risks and benefits. In most cases of fetal lung lesions, continued observation with postnatal therapy is the outcome. When fetal hydrops is present or impending, in utero fetal therapy is required to try to reverse that pathological course associated with fetal or neonatal death. Maternal morbidity is increased with the development of MIRROR syndrome following the presence of long-standing fetal hydrops and possible surgical procedures. Copyright © 2008 John Wiley & Sons, Ltd. 相似文献
14.
Ilaria Fantasia Silvia Catagini Giulia Zamagni Pantaleo Greco Irene Bianchini Sofia Bussolaro Mariachiara Quadrifoglio Leila Lo Bello Lorenzo Monasta Giuseppe Ricci Flavio Faletra Agnese Feresin Tamara Stampalija 《黑龙江环境通报》2023,43(7):929-936
Objectives
To evaluate the clinical significance of nuchal translucency (NT) between the 95th–99th percentile in terms of typical and atypical chromosomal abnormalities (ACAs), associated fetal congenital defects and postnatal outcome.Methods
A retrospective cohort study of fetuses with NT between the 95th–99th percentile. Data regarding the rate of associated fetal defects, genetic abnormalities and postnatal outcome were collected.Results
A total of 306 cases of fetuses with an NT between the 95th–99th percentiles were included. The overall rate of genetic abnormalities was 12.1% (37/306). Chromosomal abnormalities were found in 10.1% (31/306) of cases and 2% were ACA (6/306). Within this group, two were pathogenic Copy Number Variants (CNVs) and four were single gene disorders. The overall rate of fetal congenital defects was 13.7% (42/306). All ACAs were found in fetuses with congenital defects. Postnatally, a new diagnosis of a single gene disorder was made in 0.85% of cases (2/236).Conclusions
The presence of an NT between the 95th–99th percentiles carries a 10-fold increased risk of fetal defects, representing an indication for referral for a detailed fetal anatomy evaluation. The risk of ACA is mainly related to the presence of fetal defects, irrespective of the combined test risk. 相似文献15.
Chantal Deden Kornelia Neveling Dimitra Zafeiropopoulou Christian Gilissen Rolph Pfundt Tuula Rinne Nicole de Leeuw Brigitte Faas Thatjana Gardeitchik Suzanne C. E. H. Sallevelt Aimee Paulussen Servi J. C. Stevens Esther Sikkel Mariet W. Elting Merel C. van Maarle Karin E. M. Diderich Nicole Corsten-Janssen Klaske D. Lichtenbelt Guus Lachmeijer Lisenka E. L. M. Vissers Helger G. Yntema Marcel Nelen Ilse Feenstra Wendy A. G. van Zelst-Stams 《黑龙江环境通报》2020,40(8):972-983
Objective
The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.Methods
In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).Results
A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.Conclusions
These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making. 相似文献16.
17.
Objective To evaluate the effect of prenatal therapeutic interventions on perinatal outcome in pregnancies complicated by isolated fetal hydrothorax with hydrops. Methods A systematic review of the literature from January 1982 to January 2006 of perinatal outcome in pregnancies with isolated fetal hydrothorax with hydrops with any form of prenatal treatment was conducted. Results Forty-four articles met our selection criteria, reporting a total of 172 fetuses treated prenatally. Reported treatment options were single (n = 13) or serial thoracocentesis (n = 18), thoraco-amniotic shunt placement (n = 100) or a combination of thoracocentesis and shunting (n = 36). Four case-reports described pleurodesis with OK-432, (n = 3) and intrapleural injection of autologous blood (n = 2). Overall survival rate was 63%, ranging from 54% for single thoracocentesis to 80% in the 5 cases treated with pleurodesis, without statistically significant differences between the treatment modalities. Shunt-placement with or without prior thoracocentesis was most often described, with survival rates of 67 and 61% respectively. Discussion The available literature consists exclusively of case reports and case series. This systematic review suggests that with prenatal intervention, perinatal survival rates around 63% are possible. There is a need for prospective, adequately controlled studies with long-term follow-up to determine the best treatment and more reliable outcome data in pregnancies complicated by fetal hydrothorax with hydrops. Copyright © 2007 John Wiley & Sons, Ltd. 相似文献
18.
养鸡场空气中抗性基因和条件致病菌污染特征 总被引:3,自引:0,他引:3
集约化养殖场被认为是空气环境中抗性基因和致病菌的重要来源.本研究采集了养鸡场粪便和舍内外空气样本,对其抗生素抗性基因和条件致病菌的种类进行分析,包括五类抗生素(β-内酰胺类的23个基因、四环素23个基因、喹诺酮5个基因、磺胺类5个基因和红霉素2个基因)抗性基因、5种条件致病菌(肠球菌属、大肠杆菌属、葡萄球菌属、弯曲杆菌属和产气荚膜梭状芽胞杆菌属各1个基因)以及一类整合子(int I1)特异基因;并利用荧光定量PCR对检出率较高的典型基因浓度进行检测.结果显示,空气中5类抗生素抗性基因分别检出8、7、2、3和2个,同时检测到两种致病菌.目标基因在舍内空气中的检出率小于等于粪便样本.蛋鸡和肉鸡舍内空气中总细菌基因(16S r DNA)浓度为106copies·m-3,其他典型基因浓度约104copies·m-3,且在舍外的浓度要远低于舍内.抗生素抗性基因和条件致病菌基因在空气中所占比例高于粪便,舍内高于舍外.初步研究结果表明,粪便可能是舍内抗生素抗性基因、条件致病基因以及一类整合子的重要来源.本研究结果将为集约化养殖场抗生素抗性基因和致病菌的来源分析,以及养殖场对周边空气环境污染的风险评估提供基础数据. 相似文献
19.
Joe Shaw Elizabeth Scotchman Ben Paternoster Maureen Ramos Sarah Nesbitt Sophie Sheppard Tristan Snowsill Lyn S. Chitty Natalie Chandler 《黑龙江环境通报》2023,43(4):477-488
Objectives
To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches.Methods
Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare Mendelian conditions. Three analytical methods were compared: sequential probability ratio testing (SPRT), Bayesian and z-score analyses.Results
The SPRT, Bayesian and z-score analyses performed similarly well with correct prediction rates of 96%, 97% and 98%, respectively. However, there were high rates of inconclusive results for each cohort, particularly for z-score analysis which was 31% overall. Two samples were incorrectly classified by all three analytical methods; a false negative result predicted for a fetus affected with sickle cell disease and a false positive result predicting the presence of an X-linked IDS variant in an unaffected fetus.Conclusions
ddPCR can be applied to RMD for diverse conditions and inheritance patterns, but all methods carry a small risk of erroneous results. Further evaluation is required both to reduce the rate of inconclusive results and explore discordant results in more detail. 相似文献20.
Raphaële Mangione Etienne Voirin-Mathieu Marianne Yvert Nicolas Fries Eve Mousty Vanina Castaigne Françoise Muller Sophie Dreux for the DILDIG Study Group 《黑龙江环境通报》2023,43(3):328-338