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Časopis Gynecology for practice – Článok NIPT500 – Prospective study in utilisation of multinomial distribution algorithm for non-invasive prenatal screening of the most frequent aneuploidy

Gynecology for practice

Reviewed, postgraduate scietific medical journal.
Period 4x per year
1336-3425
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Gynecology for practice
Gynecology for practice
Reviewed, postgraduate scietific medical journal.
Period 4x per year
Predplatné
Téma: Various

NIPT500 - Prospective study in utilisation of multinomial distribution algorithm for non-invasive prenatal screening of the most frequent aneuploidy

Michaela Hýblová, Jaroslav Budiš, František Ďuriš, Rastislav Hekel, Dagmar Landlová, Peter Križan, Alica Valachová, Miriam Vojvodová, Jana Kršiaková, František Cisárik, Iveta Mlkvá, Nadežda Mišovicová, Eleonóra Čmelová, Gabriel Minárik, Tomáš Szemes

NIPT500 - Prospective study in utilisation of multinomial distribution algorithm for non-invasive prenatal screening
of the most frequent aneuploidy
The prospective validation study NIPT 500 was running in the period from July 2015 to December 2016. The aim
of the study was to evaluate sensitivity and specificity of non-invasive prenatal detection of aneuploidy for chromosomes
21, 18 and 13 using the multinomial distribution model analysing the results of whole-genome sequencing
with low coverage in the group of pregnant women with increased risk of incidence in mentioned trisomies.
In the frame of the evaluated period, 447 samples were examined from pregnant women, in 381 a successful telephonic
survey was performed, with a sufficient time interval, aimed at confirmation of analysis results using
the multinomial algorithm. According to the information from the survey, 13 pregnancies were not discontinued.
In 65 samples the telephonic survey was not successful. One result of the analysis was non-informative also after
repeated blood sampling from a pregnant woman. The total number of samples positive for trisomy testing was
20. The test was positive for trisomy of the chromosome 21 in 13, for trisomy 18 in 3 and trisomy 13 in 4 pregnant
women. One test result was false positive for trisomy 21. In one case we detected partial monosomy of the
chromosome 18, which was confirmed postnatally (Picture 1). Sensitivity for all trisomies reached 100%. Specificity
for T21 was 99.71%, for T18 and T13 100%. The method „Multinomial” in combination with whole-genome
sequencing in the investigated cohort reached comparable values of sensitivity and specificity as in the other published
studies focused on the evaluation of other calculation models used in NIPT.

NIPT, free circulating DNA, trisomy 21, screening, sequencing
Gynekol. prax 2017; 15 (1): 73-76

Ročník 2017  Témy časopisu Gynecology for practice 1 / 2017

Miroslav Korbeľ, Zuzana Nižňanská, Zuzana Kosibová, Peter Kaščák, Zuzana Podmanická
Miroslav Korbeľ, Zuzana Nižňanská, Peter Kaščák, Darina Chovancová, Miroslava Dubčáková
Miroslav Korbeľ, Alexandra Krištúfková, Monika Dugátová, Jakub Daniš, Bianka Némethová, Zuzana Nižňanská, Peter Kaščák
Alexandra Krištúfková, Miroslav Korbeľ, Jakub Daniš, Monika Dugátová, Bianka Némethová, Miroslav Borovský
Jakub Daniš, Miroslav Korbeľ, Alexandra Krištúfková, Monika Dugátová, Bianka Némethová, Miroslav Borovský
Monika Dugátová, Miroslav Korbeľ, Alexandra Krištúfková, Jakub Daniš, Bianka Némethová, Miroslav Borovský
Miroslav Korbeľ, Andrej Havalda, Zuzana Nižňanská, Alexandra Krištúfková, Peter Kaščák, Jozef Záhumenský
Miroslav Korbeľ, Alexandra Krištúfková, Zuzana Nižňanská, Pavol Janáč, Peter Kaščák
Vladimír Cupaník, Miroslav Korbeľ, Peter Mareš, Jozef Záhumenský, Peter Kaščák
Darina Chovancová

Various

Miroslav Borovský
Michaela Hýblová, Jaroslav Budiš, František Ďuriš, Rastislav Hekel, Dagmar Landlová, Peter Križan, Alica Valachová, Miriam Vojvodová, Jana Kršiaková, František Cisárik, Iveta Mlkvá, Nadežda Mišovicová, Eleonóra Čmelová, Gabriel Minárik, Tomáš Szemes
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Nie sú dostupné žiadne voľne dostupné články
CHAIRMAN OF THE EDITORIAL BOARD
MUDr. Tibor Bielik PhD.

MEMBERS OF THE EDITORIAL BOARD
prof. MUDr. Miroslav Borovský, CSc.
prof. MUDr. Ján Danko, CSc.
prof. MUDr. Ľudovít Danihel, PhD.
doc. MUDr. Ivan Hollý, PhD.
MUDr. Ľudovít Janek st.
doc. MUDr. Miroslav Korbeľ, CSc.
prof. MUDr. Štefan Lukačín, PhD.
prof. MUDr. Miloš Mlynček, CSc.
MUDr. Zuzana Nižňanská, PhD.
doc. MUDr. Martin Redecha, PhD.

PROFESSIONAL EDITOR
doc. MUDr. Martin Redecha, PhD.

EDITOR-IN-CHIEF
Ing. Danica Paulenová
e-mail: paulenova@amedi.sk

GRAPHIC LAYOUT AND TYPESETTING
Lucia Vecseiová
e-mail: dtp@amedi.sk

MARKETING MANAGER
Ing. Dana Lakotová
mobil: 0903 224 625
e-mail: marketing@amedi.sk

ECONOMY AND SUBSCRIPTIONS
Ing. Mária Štecková
telefón: 02/55 64 72 48
mobil: 0911 117 949
e-mail: ekonom@amedi.sk

LANGUAGE PROOFREADING
Mgr. Eva Doktorová

PROOFREADING OF ENGLISH TEXTS
Mgr. Jana Bábelová
SECTIONS

OVERVIEW PAPERS
The latest knowledge on disease and disease groups aetiology, pathogenesis, diagnoses and therapy. Maximum size is 8 pages (font size 12, line spacing 1.5) with maximum five pictures (graphs). In case of more extensive theme elaboration it is possible to divide the paper to several parts after agreement with editorial office. Write the article with emphasis on its practical usage for gynaecologists.

CASE STUDY
Maximum extent is 7 pages. Structuring: summary, key words
(also in English), introduction, case study, discussion, conclusion, bibliography.

DIAGNOSTIC AND THERAPEUTICAL ALGORITHMS
Diagnosis and therapy processed into tables and schemes, with minimum text, with emphasis to conciseness and clarity.

MISCELLANEOUS
Reaction to overview articles, news in the field of diagnostics, therapy, trial results (maximum 3 pages), reports from professional events, abstracts from scientific work published abroad, not older than 1 year. Maximum extent is 1 page. Write the title of the paper in Slovak/Czech, authors, workplace, then title of the paper in English with full citation.

FROM BORDERLINE OF GYNECOLOGY
Intersectional theme elaborated complexly, well-arranged, clear (extent up to 8 pages).


MANUSCRIPT ELABORATION

Write the paper on computer in any common text editor.
- write full length of lines (do not use ENTER at the end of a line)
- do not arrange text into columns
- do not do page make-up, put tables at the end of the paper
- distinguish precisely numbers 1, 0 and letters l, O
- use always parentheses ( )
- explain abbreviations always when first used


MANUSCRIPT REQUIREMENTS

1. An accurate paper title, names and surnames of all authors including titles, authors` workplace. The first author address including the phone number, fax and e-mail address.
2. Summary - concise content summary in the extent maximum 10 lines (only at overview papers, case studies and From borderline of gynaecology). Write in 1st or 3rd person singular or plural (unify according the type of an article).
3. Key words - in the extent of 3-6 (just at overview papers, From borderline of cardiology).
4. English translation: paper title, summary, key words (only at overview papers, From borderline of gynaecology and case studies)
5. Text
If you insert pictures into a document, send also their original files in "jpg" format, create graphs in Excel and send also their original files. If you send photo documentation via post office, please, send just high-class originals. Mark each original by a number, under which it is mentioned in the text. Write in 1st or 3rd person singular or plural (unify according the type of an article).
6. Bibliography
Citations are numbered chronologically in bold, references in the text are stated by the number of citations in parentheses. Use maximum 20 citations.

Examples of citations:
1. Webb MJ. Chirurgia v gynekologickej onkológii – včera, dnes a zajtra. Gynekol prax 2003; 1 (1): 29-34.
2. Shaheen NJ, Crosby NA, Bozymski EM, et al. Is there publication bias in the reporting cancer risk in Barrett´ esophagus? Gastroenterology 2000; 119: 333-338.
3. Kistner RW. Gynecology. Principles and Practice. 3rd Ed. Chicago: Year Book Medical Publisher 1979: 823p.
4. Osborne BE.The electrocardiogram of the rat. In: Budden R, Detweiler DK, Zbinden G. The rat electrocardiogram in pharmacology and toxicology. Oxford: Pergamon Press 1981: 15-27.
5. Rodička a novorodenec 2000. Zdravotnická statistika, ÚZIS ČR 2001, 127.
6. http/www.nspnz.sk/neonatal/priority.htm

Do not use dots after first names in citations. Do not use colon but dot after names of authors. Use semi-colon after the year of publishing, colon is before pages. If an author is one, two or three - it is necessary to state all. If there are more than three authors it is necessary to write first three and "et all",. If there are more than three authors it is necessary to write first three and "et all", in Slovak and Czech citations "a spol.".

Due to publishing of autodidactic tests it is necessary to add 4 questions to your article and 4 answers with marking of one correct answer, e.g.:

For primary dysmenorrhoea from laboratory results it is characteristic:
a. increase of lymphocytes in differential BP over 40 %
b. increase of C-reactive protein and FW in the blood
c. decrease of Hb level in the blood below 100 g/l
d. none of them are characteristic

The editorial board reserves the right to make small stylistic changes in the paper. If it is necessary to shorten the paper, the consent of the author will be required. All articles are double reviewed.

All published papers are paid.

Due to practical focus of the journal we would like to ask you to write the paper comprehensively, with emphasis on practical use of provided information in out-patient gynaecological practice.

Send contributions by e-mail to the address: paulenova@amedi.sk
Period 4x per year
1336-3425
The journal is indexed in the Slovak National Bibliography, Bibliographiia Medica Slovaca (BMS) and listed to citation database CiBaMed. All articles are reviewed. The publisher does not bear any responsibility for data and opinions of particular authors of the articles or advertisements. The articles on grey pages are company promotions or non reviewed information, an author is responsible for the content. Any reproduction of the content is allowed only with direct consent of the editorial office.
Predplatné
Gynecology for practice
Gynecology for practice
Reviewed, postgraduate scietific medical journal.
Period 4x per year
Predplatné