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

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.

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Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

European Journal of Human Genetics ◽

10.1038/s41431-021-00940-8 ◽

2021 ◽

Author(s):

Karuna R. M. van der Meij ◽

Annabel Njio ◽

Linda Martin ◽

Janneke T. Gitsels-van der Wal ◽

Mireille N. Bekker ◽

...

Keyword(s):

Down Syndrome ◽

Pregnant Women ◽

Prenatal Screening ◽

Screening Program ◽

Informed Choice ◽

Aneuploidy Screening ◽

Non Invasive ◽

Fetal Aneuploidy ◽

Societal Pressure ◽

Prenatal Test

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.

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

Frontiers in Genetics ◽

10.3389/fgene.2021.666648 ◽

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.

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Economic Analysis of The Use of Non-Invasive Prenatal Test (NIPT) For Prenatal Screening of Trisomy 21, 18, 13 In Pregnant Women

Value in Health ◽

10.1016/j.jval.2017.08.1018 ◽

2017 ◽

Vol 20 (9) ◽

pp. A578

Author(s):

D Paolini ◽

L Camurri ◽

M Dionisi ◽

G Speranza ◽

F Prefumo

Keyword(s):

Economic Analysis ◽

Pregnant Women ◽

Trisomy 21 ◽

Prenatal Screening ◽

Non Invasive ◽

Prenatal Test

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Compelling Choices: Tensions in the Practice and Experience of Prenatal Screening in New Zealand

10.26686/wgtn.17009750.v1 ◽

2021 ◽

Author(s):

◽

Sarah Ellen Donovan

Keyword(s):

Health Policy ◽

New Zealand ◽

Pregnant Women ◽

Prenatal Screening ◽

Risk Groups ◽

Population Based ◽

Ethical Practice ◽

Policy Makers ◽

Pregnancy Care ◽

Recent Developments

<p>Recently there has been a shift in health policy in New Zealand, as internationally, away from prenatal screening for fetal abnormalities targeting specific 'high risk' groups of pregnant women, towards the implementation of population-based screening programmes. As a result, for the majority of pregnant women in Western countries, prenatal screening is now undertaken as part of the standard 'package' of maternity care. This thesis explores the constitution of prenatal screening as a now taken-for-granted aspect of contemporary pregnancy care. It considers tensions between popular and medical understandings of the value and purpose of this practice, in particular examining the contradictory nature of discourses which, on one hand, construct acceptance of prenatal screening as an empowering 'choice' available to pregnant women, and on the other hand, as an institutionally-endorsed, morally appropriate practice of risk management. Recent developments within the New Zealand context are presented as a 'case study' of the representational politics of prenatal screening within contemporary public health policy. The question of informed consent for prenatal screening is a key focus within the research. It examines the extent to which the scope of women's choices and the degree of consent possible are materially shaped and constrained within the context of current clinical practice, and the broader climate of contemporary pregnancy care. Empirically, the research investigates key themes in women's experience of prenatal screening decisions within this climate, and explores the private 'moral work' undertaken by pregnant women as they navigate the contradictory imperatives which circulate in mainstream screening discourse. The findings of the research suggest a need for clinicians and policy makers to recognise prenatal screening as an ethically complex 'special case', qualitatively distinct from other projects of population-based health screening. It is argued that ethical practice in prenatal screening requires an approach which acknowledges the discursive and material factors which problematise liberal conceptions of prenatal screening as an authentic, deliberative 'choice' available to pregnant women.</p>

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

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.03.74-75 ◽

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.

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

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.3109/14767058.2012.712569 ◽

2012 ◽

Vol 25 (12) ◽

pp. 2616-2619 ◽

Cited By ~ 18

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

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

Molecular Cytogenetics ◽

10.1186/s13039-019-0457-x ◽

2019 ◽

Vol 12 (1) ◽

Cited By ~ 2

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.

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Provision of Critical Maternity Care during the Coronavirus Disease 2019 (COVID-19) Pandemic in the Islamic Republic of Iran

Archives of Iranian Medicine ◽

10.34172/aim.2020.59 ◽

2020 ◽

Vol 23 (8) ◽

pp. 557-560

Author(s):

Nasrin Changizi ◽

Alireza Raeisi ◽

Hamed Barekati ◽

Abbas Habibolahi ◽

Haniye Sadat Sajadi ◽

...

Keyword(s):

Pregnant Women ◽

Maternity Care ◽

Risk Groups ◽

Health Care Facilities ◽

Local Health ◽

The Sustainable Development ◽

Team Working ◽

Local Health Care ◽

Islamic Republic Of Iran ◽

Development Goals

Reducing maternal mortality is one of the Sustainable Development Goals. Although there is no vigorous evidence that pregnant women are in the high-risk groups in response to coronavirus disease 2019 (COVID-19), it is crucial to respond to the pandemic through providing required action plans for confirmed or suspected pregnant women cases while maintaining routine functions. Iran’s response and preparedness measures to COVID-19 aimed to meet the essential needs required to protect pregnant women and their families. Establishing a national maternal health network, relying on mechanisms for timely reporting, monitoring, and following-up, preparing guidelines and protocols required for COVID-19 management in pregnant women though a multidisciplinary team working approach, and embedding the precautions of reducing transmission in maternity care were the main measures taken to cope with COVID-19 in pregnancy. Iran’s experience in providing maternity care during the COVID-19 can guide other countries affected by COVID-19. However, it should be adapted to local health-care facilities, as well as in response to any further updates on COVID-19.

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Why NIPT should be publicly funded

Journal of Medical Ethics ◽

10.1136/medethics-2020-106218 ◽

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.

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