A survey of pregnant women about their preferences for prenatal tests with different characteristics

2020 ◽  
pp. 74-75
Author(s):  
Е.Е. Баранова ◽  
Е.Е. Заяева ◽  
Л.А. Жученко ◽  
С.П. Щелыкалина ◽  
В.Л. Ижевская
Keyword(s):  
Pregnant Women ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Different Characteristics

Проанализировано мнение 800 беременных женщин, проходящих ранний пренатальный скрининг (РПС) врожденных пороков развития и хромосомных аномалий у плода, относительно различных характеристик пренатальных тестов Проведенный опрос позволит сравнить результаты с другими странами, где НИПТ используется в РПС, и выработать собственные рекомендации. Relatively different characteristics of prenatal tests, the opinion of 800 pregnant women undergoing early prenatal screening (EPS) of congenital malformations and chromosomal abnormalities in the fetus was analyzed. The survey will allow you to compare the results with other countries where NIPT is used in the EPS, and to develop our own recommendations.

Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018

2020 ◽  
pp. 76-78
Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  
Keyword(s):  
Reference Values ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Overall Effectiveness ◽  
Regions Of Russia

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women

2012 ◽  
Vol 25 (12) ◽  
pp. 2616-2619 ◽  
Author(s):  
Tze Kin Lau ◽  
Mei Ki Chan ◽  
Pui Shan Salome Lo ◽  
Hon Yee Connie Chan ◽  
WaiSze Kim Chan ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Fetal Sex ◽  
Non Invasive

scholarly journals Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Rulin Dai ◽  
Yang Yu ◽  
Qi Xi ◽  
Xiaonan Hu ◽  
Haibo Zhu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Northeast China ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Screening Methods ◽  
Serological Screening ◽  
Diagnostic Center ◽  
Positive Results

Abstract Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to determine the relationships between fetal chromosomal abnormalities and indicators of prenatal abnormalities in Northeast China. Methods We evaluated 4953 16- to 23-week singleton gestation cases using amniocentesis and a total of 3583 participants received serological screening. Fetal chromosomal analyses were performed for all samples using fluorescence in situ hybridization and karyotyping. Results Among these samples, 204 (4.12%) had fetal chromosomal abnormalities. A total of 3583 participants received serological screening, among whom 102 (2.85%) exhibited positive results. A total of 309 participants had ultrasonography; 42 (13.6%) of these had abnormalities. Among 97 participants who had non-invasive prenatal testing (NIPT), 59 (61%) had positive results. Among 1265 participants with advanced maternal age, 78 (6.2%) had abnormal results. Conclusion The serological screening and NIPT that were included in the prenatal screening methods all had false positive and false negative rates. Although they are both prenatal screening techniques, maternal serum screening cannot be replaced by NIPT. The pregnancy women should accept NIPT in a qualified prenatal diagnostic center. We recommend that pregnant women at high or critical risk undergoing prenatal screening should confirm the fetal karyotype through amniocentesis. Moreover, if women receive a positive result via NIPT, they should not have a pregnancy termination without undergoing further prenatal diagnosis.

scholarly journals Pregnant women’s and healthcare professionals’ preferences in decision-making process for prenatal screening: world experience

2019 ◽  
pp. 3-10
Author(s):  
Е.Е. Заяева ◽  
Е.Е. Баранова ◽  
Л.А. Жученко ◽  
Л.Ю. Иванова ◽  
В.Л. Ижевская
Keyword(s):  
Pregnant Women ◽  
Healthcare Professionals ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Risk Groups ◽  
Routine Practice ◽  
Sociological Research ◽  
Local Health ◽  
Local Health Policy ◽  
Prenatal Test

Многие страны внедряют неинвазивное пренатальное тестирование (НИПТ) в систему общественного здравоохранения в качестве контингентного скрининга для беременных, что позволяет повысить эффективность выявления хромосомных аномалий (ХА) у плода и снизить количество необоснованных инвазивных процедур. Анализ литературных источников показал, что большинство врачей и беременных из групп высокого и промежуточного рисков готовы воспользоваться НИПТ в качестве дополнительного скрининга в связи с его безопасностью, высокой чувствительностью и возможностью раннего получения результатов. Однако обнаружены различия в выборе метода раннего пренатального скрининга ХА между странами, которые зависели от этнических, социо-демографических и религиозных характеристик опрошенных, а также от особенностей политики местного здравоохранения, связанных с необходимостью частичной или полной оплаты пренатального теста и доступностью прерывания беременности. Сделан вывод, что для каждой страны необходимы свои руководства, разработанные с учетом социального контекста, а вопрос о внедрении НИПТ в рутинную практику должен решаться по результатам социологических исследований в больших группах беременных и врачей страны. Many countries are introducing a non-invasive prenatal test, NIPT, into the public health system as a contingent screening for pregnant women, which improves the detection of chromosomal abnormalities of the fetus and reduces the number of unwarranted invasive procedures. Analysis of the literature showed that the majority of doctors and pregnant women from the high and intermediate risk groups are ready to use NIPT as an additional screening due to its safety, high sensitivity and the possibility of early reception of results. However, there were found differences between countries in choosing the method of prenatal screening for chromosomal abnormalities of the fetus, which depend on the ethnic, sociodemographic and religious characteristics of the respondents, as well as on the peculiarities of the local health policy related to the need for partial or full payment of the prenatal test and the availability of abortion. It was concluded that each country needs its own guidelines, developed with taking into account the social context, and the issue of introducing NIPT into routine practice should be decided by the results of sociological research among large groups of pregnant women and healthcare professionals in the country.

scholarly journals Why NIPT should be publicly funded

2020 ◽  
Vol 46 (11) ◽  
pp. 783-784
Author(s):  
Eline Maria Bunnik ◽  
Adriana Kater-Kuipers ◽  
Robert-Jan H Galjaard ◽  
Inez de Beaufort
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Public Funding ◽  
Prenatal Testing ◽  
Universal Coverage ◽  
First Trimester ◽  
Relevant Information ◽  
Publicly Funded ◽  
Legitimate Argument

Asking pregnant women to (co)pay for non-invasive prenatal testing (NIPT) out of pocket leads to unequal access across socioeconomic strata. To avoid these social justice issues, first-trimester prenatal screening should be publicly funded in countries such as the Netherlands, with universal coverage healthcare systems that offer all other antenatal care services and screening programmes free of charge. In this reply, we offer three additional reasons for public funding of NIPT. First, NIPT may not primarily have medical utility for women and children, but rather offers relevant information and reproductive options, and thus serves important autonomy interests of women. Second, public funding of NIPT can be justified because it results in a reduction of collectively borne costs associated with care and support for children with chromosomal abnormalities. It is important to note that this is not an argument for individual women to take part in screening or to terminate an affected pregnancy. However, it is a legitimate argument in policy making regarding funding arrangements for screening programmes. Finally, public funding would help to amend current misunderstandings among pregnant women (eg, that they are not at risk), and thus to support informed consent for first-trimester prenatal screening.

scholarly journals Prenatal diagnosis of 2193 pregnant women with invasive indications for chromosomal abnormalities in southern China: a retrospective study

2020 ◽  
Author(s):  
Xiaodong Gu ◽  
Sudong Liu ◽  
Huaxian Wang ◽  
Ruiqiang Weng ◽  
Xuemin Guo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Genetic Screening ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Screening Methods ◽  
Non Invasive

Abstract Background: Although a variety of non-invasive techniques are used for prenatal genetic screening and diagnosis, our knowledge remains limited regarding the relationship between high-risk prenatal indications and fetal chromosomal abnormalities.Methods: We retrospectively investigated the prenatal genetic screening and karyotype analysis results of pregnant women who had undergone invasive prenatal testing in Prenatal Diagnosis Department of Meizhou People’s Hospital during Jan. 1, 2015 to Dec. 31, 2019. We analyzed the frequencies of chromosome abnormalities in women with high-risk indications.Results: A total of 2,193 pregnant women who had underwent invasive prenatal testing were included in our analysis. Chromosomal abnormalities occurred in 10.3% of these women, and rate increased with maternal age (P < 0.001). The frequencies of chromosome abnormalities varied for women with different high-risk indications, which was 10.3% (226/2193) for abnormal ultrasound results, 3.3% (31/938) for positive serum screening test results, 61.4% (78/127) for positive NIPT results, 9.3% (13/140) for AMA and 11.1% (10/90) for obstetric/family history. Follow up data showed that 380 pregnant women opted for termination the pregnancy, including 211 (55.5%) due to karyotype abnormalities and 169 (45.5%) due to abnormal ultrasonic outcomes.Conclusion: Our data suggested that the prenatal screening methods have high false positive rates. NIPT is the most accurate non-invasive prenatal screening. Apart from karyotype abnormality, abnormal ultrasound results alone accounted for a big part of pregnancy termination.

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.

FETAL GROWTH RESTRICTION WITH EARLY AND LATE MANIFESTATION, PROGNOSTIC MARKERS

2020 ◽  
pp. 27-30
Author(s):  
Yakubova D.I.
Keyword(s):  
Risk Factors ◽  
Pregnant Women ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Prenatal Screening ◽  
Prognostic Markers ◽  
Growth Restriction ◽  
Late Manifestation ◽  
Late Form ◽  
Early Manifestation

Objective of the study: Comprehensive assessment of risk factors, the implementation of which leads to FGR with early and late manifestation. To evaluate the results of the first prenatal screening: PAPP-A, B-hCG, made at 11-13 weeks. Materials and Methods: A retrospective study included 110 pregnant women. There were 48 pregnant women with early manifestation of fetal growth restriction, 62 pregnant women with late manifestation among them. Results of the study: The risk factors for the formation of the FGR are established. Statistically significant differences in the indicators between groups were not established in the analyses of structures of extragenital pathology. According to I prenatal screening, there were no statistical differences in levels (PAPP-A, b-hCG) in the early and late form of FGR.

Sign in / Sign up

Export Citation Format

Share Document