Participation in prenatal screening tests and intentions concerning selective termination in Finnish maternity care

AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS: Questionnaires were given to pregnant women visiting maternity centres in two Finnish towns in which serum screening was offered (n = 1,035) and in one town where midtrimester ultrasound screening was offered (n = 497). Response rates to the questionnaires were 88 and 85%, respectively. Other questionnaires asking about selective terminations following detected fetal disorders were sent in 1993 to all public hospitals with obstetrics or gynaecology departments (response rate 100%). RESULTS: The serum screening test had usually been offered to women as a free choice, but for 22% of them it was presented as a routine procedure. Most women (92%) underwent serum screening and most (86%) found the decision to participate or not easy. In almost every aspect of presentation and participation studied, serum and ultrasound screening differed from each other. 85% of respondents to ultrasound screening answered that it was offered as a routine procedure. Close acquaintance with a person with congenital disability was negatively associated with participation in serum screening and with the intention to terminate pregnancy in case of a detected disability. 27% of women in the serum screening survey and 22% in the ultrasound survey declared that they would have declined pregnancy termination if a fetal disorder had been detected. However, according to the hospitals' data, only 13% of pregnancies with a serious fetal disorder detected were continued. CONCLUSIONS: All prenatal screening tests, including ultrasound examinations, require an adequate process of informed consent. Because the aim of such tests is to detect fetal malformations and syndromes, health care professionals should discuss the implications with women before they decide. Because acquaintance with a disabled person was found to associate with participation in screening and with intentions about selective termination, women's perceptions of lives of the disabled should receive more attention in future studies.     

Awareness and attitude toward prenatal diagnosis of chromosomal abnormalities in patients with no access to legal termination of pregnancy

OBJECTIVE: To analyze variables affecting couples' decision making about prenatal cytogenetic diagnosis in patients with no access to legal termination of pregnancy (TOP). METHODS: Patients undergoing invasive prenatal diagnosis were anonymously surveyed after counseling and before the procedure. The questionnaire enquired about sociodemographic features, medical history, knowledge of and attitudes toward genetic testing and TOP. RESULTS: Two genetic units distributed 372 questionnaires. Mean maternal age was 36 +/- 4 years. Access to prenatal genetic counseling was mainly patient's own initiative, or 'self-referral'. Most self-referred patients (87%) considered that 'receiving accurate information' was the main issue. Eighty-one per cent of all couples knew that TOP because of fetal anomalies was not legal. In case of a serious anomaly, 68.2% of patients would contemplate TOP, in spite of the risk of being exposed to an unsafe abortion. CONCLUSIONS: In many countries, prenatal genetic testing is offered, but TOP is not available. In the present study, although most of the couples who decided to undergo prenatal genetic testing were aware of this, they still chose to perform prenatal diagnosis. The main reason given was to obtain reliable information about fetal condition. Finally, if a fetal chromosomal abnormality were detected, most of them would consider TOP.     

Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women's reasons

OBJECTIVES: Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give more insight into the decision for or against prenatal screening through nuchal translucency measurement or maternal serum screening. PATIENTS AND METHODS: The study is part of a randomized controlled trial with two groups, each being offered a different prenatal screening test, and a control group. Pregnant women received postal questionnaires at three stages of their pregnancy. RESULTS: Of the women being offered the nuchal translucency measurement or the second trimester maternal serum test, 53 and 38% respectively accepted the test offer. The main reasons for accepting were 'gaining knowledge about the health of the foetus/curiosity' (50%), 'favourable characteristics of the screening test' (18%), and 'increased risk of having a child with DS' (15%). The main reasons for declining were 'unfavourable characteristics of the screening test' (42%), 'not applicable/not necessary' (35%), 'anxiety/uncertainty' (36%), 'adverse characteristics of the invasive tests' (32%), and 'being against abortion' (15%). DISCUSSION: The uptake of prenatal screening was relatively low, and different distributions of reasons were reported, compared to other studies. These differences may be due to the specific Dutch situation in which prenatal screening is not part of standard prenatal care. The question arises as to whether informed decision-making would be reduced if prenatal screening became routinised.     

Are pregnant Australian women well informed about prenatal genetic screening? A systematic investigation using the Multidimensional Measure of Informed Choice

BACKGROUND: Ethical practice requires that decisions to participate in medical care be well informed. Investigations into prenatal genetic screening for Down syndrome have assessed women's knowledge but have not examined whether being well informed about the potential consequences of screening, such as subsequent diagnostic testing, diagnosis and termination, is associated with psychological distress for women. AIMS: To assess informed choice to participate in second trimester maternal serum screening (2MSS) in pregnant women using a validated measure and to compare anxiety levels in women who were well informed versus poorly informed. METHODS: A prospective cohort study where pregnant women completed the Multidimensional Measure of Informed Choice and the Hospital Anxiety and Depression Scale immediately prior to the offer of 2MSS. Follow-up questionnaires assessing psychological symptomatology were completed at 20 and 30 weeks gestation. RESULTS: Only 37% of decisions were informed; those who participated in screening were more likely to have made an informed decision than those who did not (P = 0.01); 31% did not know that miscarriage was a possible consequence of diagnostic testing subsequent to an increased risk screening result and only 62% correctly identified that termination of pregnancy would be offered if Down syndrome were to be diagnosed. Short-term anxiety levels in those who were well informed were not significantly different from those who were poorly informed (P = 0.14). CONCLUSIONS: Health promotion strategies, which are readily applicable in clinical settings and address diverse learning needs and attitudes of pregnant women, are needed. The impact of antenatal screening on other dimensions of pregnancy psychology remains to be investigated.     

An Update on Current Prenatal Testing Options: First Trimester and Noninvasive Prenatal Testing

Prenatal genetic testing is rapidly evolving and requires that prenatal care providers stay up‐to‐date with accurate, evidence‐based knowledge. Noninvasive prenatal testing (NIPT), first trimester maternal serum markers, and fetal nuchal translucency are the most recently developed screening tests added to the testing repertoire for detection of chromosomal disorders such as trisomy 21 (Down syndrome). NIPT is a new, highly accurate technique that uses maternal serum and is rapidly being introduced as a first trimester screening tool and increasingly being requested by pregnant women. The American College of Obstetricians and Gynecologists recommends that all pregnant women be offered first and second trimester screening options, regardless of risk status, but does not yet recommend NIPT. It is important for prenatal care providers to be aware of and understand these testing options in order to assist women and their families in making well‐informed decisions during pregnancy. The purpose of this article is to update midwives and other prenatal care providers on the current prenatal genetic testing options available and how to appropriately offer and discuss them with their clients. We discuss how these tests work; what to do with the results; and most importantly, how to support and communicate accurate information to women and families as they navigate through an increasingly complicated array of testing choices.     

Womens' preference in Down syndrome screening

OBJECTIVE: To determine the knowledge of pregnant women about prenatal tests, and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed. PATIENTS AND METHODS: Pregnant women receiving antenatal care in a decentralized primary care system (n=80), and pregnant women that were offered a prenatal diagnosis at the Academic Medical Centre (n=195), were asked to complete a questionnaire. RESULTS: The response rate was over 80%. Most women in both groups preferred a screening test for Down syndrome to be performed in the first trimester of pregnancy. A combination of nuchal translucency measurement and first-trimester serum screening was the option of choice. The screening possibilities for Down syndrome were less well known to the women in the low-risk group compared with the women in the high-risk group. The offer of a prenatal screening test would have been declined by more than 30% of women at low risk for carrying a fetus with Down syndrome. CONCLUSIONS: Our results show that women prefer screening for Down syndrome to be performed in the first trimester of pregnancy, using both serum and ultrasound tests. In women at low risk for Down syndrome the knowledge of prenatal screening methods was less, as well as the acceptance of prenatal screening being lower.     

To know or not to know – parents’ attitudes to and preferences for prenatal diagnosis

Objective: To highlight expectant parents’ attitudes concerning prenatal diagnosis, what the parents wish to know and what they chose not to know about their unborn baby, also in what form and to what extent they wish for prenatal diagnosis. Background: Parents have to make decisions concerning prenatal diagnosis. Screening programmes change rapidly and there is a need for parental influence on this development. Methods: An interview study with 10 women in late pregnancy and six partners. Results: The main categories ‘A time for preparation’ and ‘A lot but not everything’ included the parents’ positive attitudes towards prenatal diagnosis, especially if it could be carried out in early pregnancy and was of help for the baby, but also their negative attitudes toward information about possible future diseases that could not be prevented and towards invasive diagnosis. The parents had confidence in the caregivers’ offers of screening programmes, but described their own attitudes as changing from before pregnancy, when newly pregnant and after their ultrasound examination. The parents described themselves as partly lacking knowledge about what the existing options for prenatal diagnosis involved. Conclusions: There is a great need for competent caregivers to inform the parents-to-be about the different methods for fetal diagnosis available to them and also what information the different methods can give. Partners need to be involved in the decision-making process.     

Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping

Objective To investigate the applicability of carrier screening in women undergoing invasive prenatal diagnosis.
Design Prospective study.
Setting University-based clinic.
Participants Two hundred and fifty-six pregnant women.
Methods Gene tests were offered for fragile X syndrome, aspartylglycosaminuria and infantile neuronal ceroid lipofuscinosis at the time of invasive prenatal testing.
Results The overall uptake of the tests was 92%. Previously unrecognised carriership was found in 10 women: aspartylglycosaminuria (7); infantile neuronal ceroid lipofuscinosis (2) and fragile X (1). Fetal genotyping was carried out in one carrier of aspartylglycosaminuria whose partner was also a carrier, and in one woman who was found to have fragile X premutation. Both fetuses were unaffected.
Conclusion Carrier screening for single-gene disorders is feasible and well accepted among pregnant women undergoing invasive prenatal testing. The major benefit is that there is no need to consider extra invasive tests when carriership is detected. Incorporation of genetic testing into fetal karyotyping gives more security to future parents.     

Women’s opinions of legal requirements for drug testing in prenatal care

Purpose: To explore women’s attitudes and perceptions regarding legal requirements for prenatal drug testing.

Methods: Web-based survey of 500?US women (age 18–45) recruited from a market research survey panel. A 24-item questionnaire assessed their opinion of laws requiring doctors to routinely verbal screen and urine drug test patients during pregnancy; recommendations for consequences for positive drug tests during pregnancy; and opinion of laws requiring routine drug testing of newborns. Additional questions asked participants about the influence of such laws on their own care-seeking behaviors. Data were analyzed for associations between participant characteristics and survey responses using Pearson’s chi-squared test.

Results: The majority of respondents (86%) stated they would support a law requiring verbal screening of all pregnant patients and 73% would support a law requiring universal urine drug testing in pregnancy. Fewer respondents were willing to support laws that required verbal screening or urine drug testing (68% and 61%, respectively) targeting only Medicaid recipients. Twenty-one percent of respondents indicated they would be offended if their doctors asked them about drug use and 14% indicated that mandatory drug testing would discourage prenatal care attendance.

Conclusion: Women would be more supportive of policies requiring universal rather than targeted screening and testing for prenatal drug use. However, a noteworthy proportion of women would be discouraged from attending prenatal care – a reminder that drug testing policies may have detrimental effects on maternal child health.     

双胎妊娠染色体异常的产前筛查及产前诊断

双胎妊娠发生胎儿畸形、染色体异常的风险较单胎妊娠高。近年来双胎妊娠发生率和高龄产妇数量不断增加,双胎妊娠的早期筛查以及产前诊断十分重要。早孕期,颈项透明层(nuchal translucency,NT)超声筛查是重要手段,不建议单独使用血清学筛查;中孕期超声结构筛查对检出胎儿结构异常有一定意义。无创产前基因检测技术的发展,对降低侵入性产前诊断的风险有重要意义,但由于目前临床证据尚不充分,双胎妊娠行无创基因检测仍需谨慎。     

Population-based carrier screening for cystic fibrosis in Victoria: The first three years experience

Background: Cystic fibrosis (CF) is the most common inherited, life-shortening condition affecting Australian children. The carrier frequency is one per 25 and most babies with CF are born to parents with no family history. Carrier testing is possible before a couple has an affected infant.
Aims:  To report the outcomes of a carrier screening program for CF.
Method: Carrier screening was offered to women and couples planning a pregnancy, or in early pregnancy, through obstetricians and general practitioners in Victoria, Australia. Samples were collected by cheek swab and posted to the laboratory. Twelve CFTR gene mutations were tested. Carriers were offered genetic counselling and partner testing. Carrier couples were offered prenatal testing by chorionic villous sampling (CVS) if pregnant. The number of people tested, carriers detected and pregnancy outcomes were recorded from January 2006 to December 2008.
Results: A total of 3200 individuals were screened (3000 females). One hundred and six carriers were identified (one per 30, 95% confidence interval one per 25, one per 36). All carrier partners were screened, and nine carrier couples identified (total carriers 115). Ninety-six individuals (83%) were carriers of the p.508del mutation. Of the nine carrier couples, six were pregnant at the time of screening (five natural conception and one in vitro fertilisation) and all had CVS (mean gestation 12.5 weeks). Two fetuses were affected, three were carriers and one was not a carrier. Termination of pregnancy was undertaken for the affected fetuses.
Conclusion: Carrier screening for CF by obstetricians and general practitioners by cheek swab sample can be successfully undertaken prior to pregnancy or in the early stages of pregnancy.     

Maternal anxiety induced by prenatal diagnostic techniques: detection and management]

Recent improvement in the screening for chromosomal defects, in particular the widespread use of ultrasonography and maternal biochemistry, is leading to a high number of fetal invasive tests (amniocentesis or chorion villus sampling). An increased level of anxiety in the pregnant women, which may sometimes continue until the postnatal period, is believed to be due to these prenatal diagnosis procedures. Maternal anxiety originates in the doubts related to fetal integrity and pregnancy outcome after information of a positive biochemical screening or visualisation of an ultrasound marker of chromosomal abnormality. Each specialist involved in prenatal care should take special attention to this, because of at least two reasons. First, anxiety may reduce maternal well being during pregnancy. Second, because it could have deleterious effects on parent to infant relationships. Without any intention of lowering the positive aspects of prenatal diagnosis, it appears essential to consider the negative effects anxiety may have on both parents. From our own experience and the conclusion of previous reported studies, we suggest some measures to reduce the level of maternal anxiety related to prenatal diagnosis: (i) improvement in the quality and transparency of information offered to pregnant women; (ii) training and involvement in psychological and emotional care for each member in the medical team; (iii) special and systematic psychological care for the "high risk" pregnant women regarding anxious disorders.     

Attitudinal ambivalence towards Down’s syndrome and uncertainty in prenatal testing and termination intentions

This study aimed to investigate the relationship between attitudinal ambivalence towards Down’s syndrome (DS) and prenatal testing and termination intentions. Intentions towards using a screening test, a diagnostic test and termination of pregnancy for DS were collected from 140 pregnant women along with their attitudes and attitudinal ambivalence towards the condition. Women who were unsure about diagnostic testing and termination were more likely to hold ambivalent attitudes towards DS than were women who gave a definite yes or no response. In particular, a higher level of ambivalence about how a child with DS might impact on parental quality of life was significantly associated with an uncertain attitude towards termination of pregnancy. Qualitative data suggested that ambivalence towards DS was associated with a desire to make diagnostic testing and termination decisions with a significant other. The findings from this study inform debate on the link between ambivalence and informed choice and have implications for supporting prenatal testing decisions in women who hold ambivalent attitudes towards parenting a child with DS.     

Exploring Physicians’ Views and Values in Relation to Maternal Serum Screening

ObjectiveLittle is known about physician support for prenatal screening. We sought a better understanding of physicians’ values and opinions as they relate to prenatal screening, termination of affected pregnancies, and disability.MethodsSurveys were sent to all family physicians/general practitioners and obstetricians in Saskatchewan during May and June 2005.ResultsOf those physicians who responded, all obstetricians and 91% of family physicians reported offering maternal serum screening (MSS) to pregnant women in their practices. Of respondents who offered MSS to their patients, 87% of obstetricians and 72% of family physicians reported offering MSS to all pregnant women. Approximately one half of respondents agreed that they had enough knowledge to counsel a pregnant woman with a fetus affected by Down syndrome or spina bifida; 40% said the same about a fetus with trisomy 18. Twenty-six percent of physicians agreed that offering MSS was in conflict with their culture, religion, or personal value systems if it led to termination of pregnancy. One third of physicians reported having concerns about the increasing capacity for genetic testing of fetuses and the social, ethical, and clinical implications of such testing.ConclusionPhysicians held diverse views regarding prenatal screening, selective termination, and disability. Personal views and biases, in either direction, are relevant to our understanding of the clinical encounter and the ethical quandaries faced by practitioners. These value differences also may explain at least some of the variation in the use of MSS observed across the country, although the current study was not designed to make a causal link. There is a need to better understand how value differences affect the uptake of new reproductive technologies and the implications for health care policy and medical practice.     

Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies

ObjectiveTo provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies.OptionsThe process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancyOutcomesClinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins.EvidencePubMed and Cochrane Database were searched for relevant English and French language articles published between 1985 and 2010, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis, twin gestation). Results were restricted to systematic reviews, randomized controlled trials, and relevant observational studies. Searches were updated on a regular basis and incorporated in the guideline to August 2010. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies The previous Society of Obstetricians and Gynaecologists of Canada guidelines regarding prenatal screening were also reviewed in developing this clinical practice guideline.ValuesThe quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).Benefits, harms, and costsThere is a need for specific guidelines for prenatal screening and diagnosis in twins These guidelines should assist health care providers in the approach to this aspect of prenatal care of women with twin pregnancies.Summary StatementsFetal nuchal translucency combined with maternal age is an acceptable first trimester screening test for aneuploidies in twin pregnancies. (II-2)First trimester serum screening combined with nuchal translucency may be considered in twin pregnancies It provides some improvement over the performance of screening by nuchal translucency and maternal age by decreasing the false-positive rate. (II-3)Integrated screening with nuchal translucency plus first and second trimester serum screening is an option in twin pregnancies. Further prospective studies are required in this area, since it has not been validated in prospective studies in twins (III)Non-directive counselling is essential when invasive testing is offered (III)When chorionic villus sampling is performed in non-monochorionic multiple pregnancies, a combination of transabdominal and transcervical approaches or a transabdominal only approach appears to provide the best results to minimize the likelihood of sampling errors. (II-2)RecommendationsAll pregnant women in Canada, regardless of age, should be offered, through an informed counselling process, the option of a prenatal screening test for the most common clinically significant fetal aneuploidies. In addition, they should be offered a second trimester ultrasound for dating, assessment of fetal anatomy, and detection of multiples. (I-A)Counselling must be non-directive and must respect a woman's right to accept or decline any or all of the testing or options offered at any point in the process. (III-A)When non-invasive prenatal screening for aneuploidy is available, maternal age alone should not be an indication for invasive prenatal diagnosis in a twin pregnancy. (II-2A) If non-invasive prenatal screening is not available, invasive prenatal diagnosis in twins should be offered to women aged 35 and over. (II-2B)Chorionicity has a major impact on the prenatal screening process and should be determined by ultrasound in the first trimester of all twin pregnancies (II-2A)     

Nasal bone (NB) length measurement in the first trimester of pregnancy in Polish population and its validity as fetal aneuploidy indicator

OBJECTIVES: Dynamic development of prenatal diagnostics is mostly directed towards search for non-invasive screening. The main role of the screening methods is to select high-risk fetal aneuploidy group of pregnant women. The base for the prenatal screening in modern obstetrics is ultrasound scanning. DESIGN: The aim of the study was to estimate typical value range for the fetal nasal bone length measurement (NB) between 11th and 20th week of pregnancy, in Polish population. The second aim was to assess the value of the parameter as an aneuploidy marker. MATERIALS AND METHODS: The study was conducted between 1999-2006, in the 1st Division of Obstetrics and Gynaecology, Medical University in ?ód?. The investigated population comprised 2960 pregnant women. 53 cases of the fetal chromosomal aneuploidies were diagnosed. RESULTS: Typical values for the nasal bone measurement were estimated. The investigations showed that until 13th gestation week, visualization of the presence or absence of the nasal bone on the ultrasound scan is a better marker for fetal aneuploidy diagnosis than the measurement. However, since the 14th week, it is the measurement that becomes the most adequate method of the fetal nasal bone assessment. CONCLUSIONS: (1) We estimated the normal value range for the fetal nasal bone length measurement (NB) between 11 and 20 weeks of pregnancy. (2) The nasal bone length is an useful marker for the fetal aneuploidy. 3. The predictive value of the method suggests the visualization of the nasal bone presence in the 1st trimester of the pregnancy as a screening method. The measurement of the NB proves to be a useful method in the prenatal diagnostic in the 2nd trimester of the pregnancy.     

Obstetrician gynecologists' knowledge and practice regarding human immunodeficiency virus screening

OBJECTIVE: To gather more information regarding prenatal human immunodeficiency virus (HIV) testing by examining the practice patterns of obstetrician-gynecologists. METHODS: Survey questionnaires were sent to 1,032 American College of Obstetricians and Gynecologists (ACOG) Fellows and Junior Fellows in practice. Questionnaires included inquiries about obstetrician-gynecologist characteristics, testing practices, and knowledge regarding HIV screening. RESULTS: A total of 582 surveys (56%) were returned. We found that 1) most (97%) obstetrician-gynecologists reported recommending HIV testing to all of their pregnant patients, 2) almost half (48%) of the physicians reported using the opt-out approach to prenatal HIV testing, and 3) respondents were sometimes unaware of whether their state requires recommending HIV testing during pregnancy. CONCLUSION: The finding that some obstetrician-gynecologists are unaware of their state regulations regarding prenatal HIV testing suggests that they would benefit from an increased awareness of state laws and regulations and having timely access to these requirements. The finding that most obstetrician-gynecologists offer HIV testing to all of their pregnant patients is consistent with the literature regarding prenatal HIV screening and with federal and national recommendations. However, study results also suggest that obstetrician-gynecologists may benefit from additional information to increase knowledge and strengthen perinatal HIV testing practice patterns. LEVEL OF EVIDENCE: III.     

Cell-free fetal nucleic acid testing: a review of the technology and its applications

Cell-free fetal nucleic acids circulating in the blood of pregnant women afford the opportunity for early, noninvasive prenatal genetic testing. The predominance of admixed maternal genetic material in circulation demands innovative means for identification and analysis of cell-free fetal DNA and RNA. Techniques using polymerase chain reaction, mass spectrometry, and sequencing have been developed for the purposes of detecting fetal-specific sequences, such as paternally inherited or de novo mutations, or determining allelic balance or chromosome dosage. Clinical applications of these methods include fetal sex determination and blood group typing, which are currently available commercially although not offered routinely in the United States. Other uses of cell-free fetal DNA and RNA being explored are the detection of single-gene disorders, chromosomal abnormalities, and inheritance of parental polymorphisms across the whole fetal genome. The concentration of cell-free fetal DNA may also provide predictive capabilities for pregnancy-associated complications. The roles that cell-free fetal nucleic acid testing assume in the existing framework of prenatal screening and invasive diagnostic testing will depend on factors such as costs, clinical validity and utility, and perceived benefit-risk ratios for different applications. As cell-free fetal DNA and RNA testing continues to be developed and translated, significant ethical, legal, and social questions will arise that will need to be addressed by those with a stake in the use of this technology. Target Audience: Obstetricians & Gynecologists and Family Physicians Learning Objectives: After participating in this activity, physicians should be better able to evaluate techniques and tools for analyzing cell-free fetal nucleic acids, assess clinical applications of prenatal testing, using cell-free fetal nucleic acids and barriers to implementation, and distinguish between relevant clinical features of cell-free fetal nucleic acid testing and existing prenatal genetic screening and diagnostic procedures.     

Assessing the Impact of the SOGC Recommendations to Increase Access to prenatal Screening on Overall Use of Health Resources in Pregnancy

ObjectivesThe recommendation by the Society of Obstetricians and Gynaecologists of Canada that prenatal screening for fetal aneuploidy be offered to all pregnant women is an important change in clinical obstetrics. However, it is unknown how this recommendation might affect the use of other health resources during pregnancy.MethodsTwelve clinical and administrative databases were linked, and care paths outlining typical service use in pregnancy were created based on the type of prenatal screening accessed (first trimester screening [FTS], maternal serum screening [MSS], invasive testing only, or no screening and/or diagnosis). Logistic, Poisson, and negative binomial models were applied to the data to examine the association between use of prenatal screening/diagnosis and other health services during pregnancy.ResultsWomen who accessed prenatal screening/diagnosis were significantly more likely to have a consultation with a medical geneticist (FTS OR 2.42; 95% CI 1.75 to 3.33; MSS OR 4.84; 95% CI 2.92 to 8.03; and invasive testing OR 8.58; 95% CI 5.28 to 13.94), and women who accessed FTS had more prenatal visits (FTS incidence rate ratio 1.03; 95% CI 1.01 to 1.05) than women who did not access prenatal screening/diagnosis. Uptake of invasive tests did not differ between women who accessed FTS and those who accessed MSS. Use of prenatal screening/diagnosis was not significantly associated with use of most other health resourcesConclusionIn a publicly funded health care system, understanding the impact of recommendations to increase access to a specific service on other services is important. Recommendations to increase access to prenatal screening services may have some unanticipated downstream effects on the use of other services during pregnancy. However, most aspects of health resource use in pregnancy do not appear to be influenced by the use of prenatal screening services.