scholarly journals The Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing

Diagnostics ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 1607
Author(s):  
Anna Nykel ◽  
Rafał Woźniak ◽  
Agnieszka Gach
Keyword(s):  
Clinical Laboratory ◽  
Chorionic Villus ◽  
Digital Pcr ◽  
Pcr Analysis ◽  
Chorionic Villus Sampling ◽  
Maternal Cell ◽  
Fetal Aneuploidy ◽  
Set Up ◽  
High Level ◽  
Fetal Aneuploidies

Prenatal samples obtained by amniocentesis or chorionic villus sampling are at risk of maternal cell contamination (MCC). In traditional prenatal analysis, MCC is recommended to be assayed by special tests, such as the short tandem repeat analysis and, if detected at a high level, may result in failed analysis report. The objective of this study was to test the ability of chip-based digital PCR to detect fetal aneuploidies in the presence of MCC. To determine the level of accuracy of MCC detection, an aneuploid male sample was subjected to serial dilution with an euploid female sample. DNA was extracted from prenatal samples and analyzed with QuantStudio 3D Digital PCR. Digital PCR analysis allowed the detection of trisomy 21, trisomy 18, and X monosomy accurately in samples with 90%, 85%, and 92% of MCC, respectively. Moreover, our results indicated that digital PCR was able to accurately confirm the presence of Y chromosome at up to 95% contamination. The amniotic fluid and chorionic villus sampling (CVS) received in our clinical laboratory was subjected to further analysis of MCC based on the aneuploidy assessment algorithm, resulting in the identification of 10 contaminated samples and four cases of true fetal mosaicism. We conclude that chip-based digital PCR analysis enables the detection of fetal aneuploidy with high levels of accuracy, even in cases of significant MCC. Importantly, the algorithm eliminates the need for maternal DNA and additional MCC tests, which reduces costs and simplifies the diagnostic procedure. The method is easy to set up and suitable for routine clinical practice.

scholarly journals Invasive Prenatal Diagnosis: Chorionic Villus Sampling

2015 ◽  
Vol 9 (3) ◽  
pp. 293-306
Author(s):  
Panos Antsaklis ◽  
Aris Antsaklis ◽  
Michael Sindos ◽  
Fotodotis M Malamas
Keyword(s):  
Prenatal Diagnosis ◽  
Obstet Gynecol ◽  
Genetic Material ◽  
Chorionic Villus ◽  
First Trimester ◽  
Chorionic Villus Sampling ◽  
Maternal Circulation ◽  
Maternal Cell ◽  
Non Invasive ◽  
Limb Reduction

ABSTRACT Chorionic villus sampling (CVS) is the method of choice for first trimester invasive prenatal diagnosis. In expert hands, it is nowadays considered as safe as amniocentesis and has the advantage of an earlier diagnosis. In this review, we describe the technique of the procedure, its indications and contraindications and the requirements concerning adequate training and optimum clinical practice. We also discuss issues concerning the safety of the procedure in singleton and multiple pregnancies, other complications and controversies, such as the association with limb reduction defects and pre-eclampsia, as well as diagnostic problems and dilemmas, such as maternal cell contamination and confined placental mosaicism. We also describe new and promising methods of non-invasive diagnosis, based on the isolation and analysis of fetal cells or cell-free fetal genetic material from the maternal circulation, that aim to replace the invasive methods of prenatal diagnosis in the future. How to cite this article Sindos M, Malamas FM, Antsaklis P, Antsaklis A. Invasive Prenatal Diagnosis: Chorionic Villus Sampling. Donald School J Ultrasound Obstet Gynecol 2015; 9(3):293-306.

scholarly journals Antenatal detection of chromosomal abnormalities combining QF-PCR and cytogenetic analysis

2020 ◽  
Vol 3 (1) ◽  
pp. 34-43
Author(s):  
Ana Vicic ◽  
Vedrana Skaro ◽  
Petar Projic ◽  
Petra Korac ◽  
Romana Gjergja-Juraski ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Pcr Analysis ◽  
Chorionic Villus Sampling ◽  
Tissue Samples ◽  
Conventional Cytogenetic Analysis ◽  
Diagnostic Values ◽  
Fluorescent Polymerase Chain Reaction

Aim: To compare the diagnostic values and limitations of quantitative fluorescent polymerase chain reaction (QF-PCR) and conventional cytogenetic analysis in prenatal diagnosis of chromosomal abnormalities. Methods: A prospective study included simultaneous QF-PCR and cytogenetic analysis of 133 prenatal samples routinely obtained by amniocentesis or chorionic villus sampling (CVS). Additionally, QF-PCR analysis was performed on 14 tissue samples collected after termination of pregnancy (TOP) for which karyotyping could not be performed due to culture failure. Results: Among 133 analyzed prenatal samples, chromosomal abnormalities were diagnosed in 12 cases (9%), including 10 cases of numerical chromosomal aberrations and two cases with unbalanced structural rearrangements. Nine out of 12 chromosomal abnormalities were also detected with QF-PCR. However, all cases of major aneuploidies were successfully disclosed with QF-PCR, resulting in 100% detection rate for chromosomes 21, 18, 13, X and Y. Using a set of markers specific for chromosomes 21, 18 and 13, QF-PCR analysis of tissues collected after TOP revealed chromosomopathy in 21.4% of cases (two cases of trisomy 18 and one triploidy). A comparison of STR markers confirmed monozygosity in two monochorionic/diamniotic twin pregnancies. Conclusion: QF-PCR has been shown as a rapid and reliable method for prenatal diagnosis of the most common chromosomal aneuploidies, and as an adequate alternative to conventional karyotyping in cases where cytogenetic analysis is not possible due to failure of culturing process. However, conventional cytogenetics still presents a gold standard for the detection of structural aberrations and rare aneuploidies.

scholarly journals Diagnostic Prenatal Invasive Procedures in Obstetrics

2013 ◽  
Vol 7 (4) ◽  
pp. 426-428 ◽  
Author(s):  
Maria Angelica Zoppi
Keyword(s):  
Single Gene ◽  
Chorionic Villus ◽  
Genetic Diagnosis ◽  
Beta Thalassemia ◽  
Pcr Analysis ◽  
Comparative Genomic ◽  
Chorionic Villus Sampling ◽  
Invasive Procedures ◽  
Diagnostic Prénatal ◽  
Fetal Blood Sampling

ABSTRACT In 1977, we performed in Cagliari the first invasive prenatal diagnosis for beta-thalassemia in Europe, using fetal blood sampling by placentacentesis and chain globins analysis at 20th week of gestation. Since then we have performed more than 8,000 fetal diagnoses for beta-thalassemia using placentacentesis, fetoscopy, cordocentesis, cardiocentesis, amniocentesis, transcervical-chorionic villus sampling (TC-CVS), transabdominal (TA-CVS) and preimplantation genetic diagnosis (PGD) by embryo biopsy. Since 1986 we have been using for the beta-thalassemia and other single gene diseases only TA-CVS and PGD and DNA polymerase chain reaction (PCR) analysis. For karyotype we have been using mostly TA-CVS and amniocentesis and traditional cytogenetic analysis, in several cases also fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) array. How to cite this article Monni G, Zoppi MA, Iuculano A. Diagnostic Prenatal Invasive Procedures in Obstetrics. Donald School J Ultrasound Obstet Gynecol 2013;7(4):426-428.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

Early ultrasound prenatal diagnosis of the Meckel — Gruber syndrome in combination with 47,XYY

2018 ◽  
Author(s):  
N.P. Veropotvelyan , E.S. Savarovskaya , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Autosomal Recessive Disorder ◽  
Chorionic Villus Sampling ◽  
Previous Pregnancy ◽  
Cystic Kidneys ◽  
Occipital Encephalocele ◽  
Posterior Fossa Cyst ◽  
The Family ◽  
Hands And Feet

Meckel — Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder characterised by occipital encephalocele, polydactyly and bilateral dysplastic cystic kidneys. A case of prenatal diagnosis of MGS at 12 weeks of gestation is described. The previous pregnancy was terminated at 20 weeks due to polycystic kidneys of the fetus. The transabdominal scan of the present pregnancy revealed occipital encephalocele of the fetus. There was no oligohydramnios, but the fetal urinary bladder was not visualised and both kidneys were enlarged. The transvaginal sonogram demonstrated intracranial space dilatation (6 mm) and encepalocele with posterior fossa cyst, protrunding from the occipital bone deffect. The kidneys had the polycystic structure suggesting cystic dysplasia and there was no evidence of the hands and feet polydactyly. Based on these findings the diagnosis of the MGS was made. Chorionic villus sampling revealed 47,XYY. The family elected to terminate pregnancy and the diagnosis was confirmed by autopsy.

Onchocerciasis in Osse, Ondo State, Nigeria: Effectiveness of Motivational Strategies in Sustaining Compliance with Community Ivermectin Therapy

2002 ◽  
Vol 21 (2) ◽  
pp. 177-189
Author(s):  
O. U. Manafa ◽  
T. S. Awolola ◽  
A. N. Isamah
Keyword(s):  
Community Intervention ◽  
Intervention Group ◽  
Control Group ◽  
Group Discussions ◽  
Participant Satisfaction ◽  
Attitudes And Practices ◽  
Ondo State ◽  
Set Up ◽  
High Level ◽  
Knowledge Attitudes And Practices

A study in human Onchocerciasis was undertaken in four endemic communities in Ondo State, Nigeria. In-depth interviews were conducted on peoples' knowledge, attitudes, and practices regarding Onchocerciasis aetiology, treatment, prevention, and symptoms. These were complemented by key informant interviews and focus group discussions. Based on this information, an educational program was set up which included the training of selected villagers (motivators) and community intervention organized by these motivators. Evaluation used a control group where intervention was focused on other health problems in the area. Onchocerciasis education took place only with the intervention group. At the start of the project, peoples' knowledge about Onchocerciasis, its cause, treatment, prevention, and symptoms were varied and only a small proportion could link the bite of the blackfly to Onchocerciasis. The educational intervention achieved a high level of participant satisfaction which was expressed in continuous attendance at workshops and keeping appointments with motivators. The intervention helped to bring a significant improvement in the knowledge, attitudes, and practices (KAP) of the respondents. The knowledge of Onchocerciasis aetiology increased to 79.8 percent, 71.5 percent, and 74 percent from 48.5 percent, 48.7 percent, 34 percent, and 45 percent pre-intervention in the four study areas used. The project demonstrated that a community-based health education can be effective in Onchocerciasis control.

scholarly journals Developing a BIM-Based MUVR Treadmill System for Architectural Design Review and Collaboration

2021 ◽  
Vol 11 (15) ◽  
pp. 6881
Author(s):  
Calvin Chung Wai Keung ◽  
Jung In Kim ◽  
Qiao Min Ong
Keyword(s):  
Architectural Design ◽  
Human Locomotion ◽  
Virtual Space ◽  
Design Stage ◽  
Design Review ◽  
Team Members ◽  
Physical Constraints ◽  
Simulated Environment ◽  
Set Up ◽  
High Level

Virtual reality (VR) is quickly becoming the medium of choice for various architecture, engineering, and construction applications, such as design visualization, construction planning, and safety training. In particular, this technology offers an immersive experience to enhance the way architects review their design with team members. Traditionally, VR has used a desktop PC or workstation setup inside a room, yielding the risk of two users bump into each other while using multiuser VR (MUVR) applications. MUVR offers shared experiences that disrupt the conventional single-user VR setup, where multiple users can communicate and interact in the same virtual space, providing more realistic scenarios for architects in the design stage. However, this shared virtual environment introduces challenges regarding limited human locomotion and interactions, due to physical constraints of normal room spaces. This study thus presented a system framework that integrates MUVR applications into omnidirectional treadmills. The treadmills allow users an immersive walking experience in the simulated environment, without space constraints or hurt potentialities. A prototype was set up and tested in several scenarios by practitioners and students. The validated MUVR treadmill system aims to promote high-level immersion in architectural design review and collaboration.

Sign in / Sign up

Export Citation Format

Share Document