Implementation of Multiple Marker Screening for Preterm Preeclampsia in a Single Tertiary Obstetric Centre.

OBJECTIVES: Early assessment of pregnant individuals for risk of preterm preeclampsia (PE) is possible at the 11-14 week ultrasound visit using a validated multiple marker algorithm, allowing timely use of preventative low-dose acetylsalicylic acid (LDA) in high-risk patients. With no established early screening program for preterm PE in Canada, our objectives were to assess the acceptability and operational impact of routine screening for preterm PE during the 11-14 week ultrasound visit, evaluate uptake and adherence to LDA when recommended, and assess screening performance. METHODS: A prospective implementation study of preterm PE screening among pregnant patients at the ultrasound unit of a tertiary obstetric centre in Toronto, Canada. RESULTS: A total of 1057 patients were screened, with an acceptance rate of 87.1%. First-trimester ultrasound appointment time increased by a median time of 7 minutes (Interquartile range 6-9). By 16 weeks gestation, 88.7% of high-risk patients had started LDA, with adherence of 88.7%‒94.6% from 16‒36 weeks. Satisfaction with counselling was ≥7/10 in more than 95% of patients. There were 7 cases of preterm PE (0.73%), 3 in the low-risk group (0.35%), and 4 in the high-risk group (4.1%). When accounting for LDA use, the treatment-adjusted detection rate was 78.6%. CONCLUSIONS: We demonstrate successful implementation of a validated, effective screening and prevention program for preterm PE as a first step in the implementation of a broader program adaptable for cultural, access/equity considerations, and marker availability.

Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.

OBJECTIVE: Long-term outcomes of patients with mucopolysaccharidosis (MPS) VI treated with galsulfase enzyme replacement therapy (ERT) since infancy were evaluated. METHODS: The study was a multicenter, prospective evaluation using data from infants with MPS VI generated during a phase 4 study (ASB-008; Clinicaltrials.govNCT00299000) and clinical data collected ≥5 years after completion of the study. RESULTS: Parents of three subjects from ASB-008 (subjects 1, 2, and 4) provided written informed consent to participate in the follow-up study. One subject was excluded as consent was not provided. Subjects 1, 2, and 4 were aged 0.7, 0.3, and 1.1 years, respectively, at initiation of galsulfase and 10.5, 7.9, and 10.5 years, respectively, at follow-up. All subjects had classical MPS VI based on pre-treatment urinary glycosaminoglycans and the early onset of clinical manifestations. At follow-up, subject 4 had normal stature for age; subjects 1 and 2 had short stature, but height remained around the 90th percentile of growth curves for untreated classical MPS VI. Six-minute walk distance was normal for age/height in subjects 1 (550 m) and 4 (506 m), and reduced for subject 2 (340 m). Subject 2 preserved normal respiratory function, while percent predicted forced vital capacity and forced expiratory volume in 1 s decreased over time in the other subjects. Skeletal dysplasia was already apparent in all subjects at baseline and continued to progress. Cardiac valve disease showed mild progression in subject 1, mild improvement in subject 4, and remained trivial in subject 2. All subjects had considerably reduced pinch and grip strength at follow-up, but functional dexterity was relatively normal for age and there was limited impact on activities of daily living. Bruininks-Oseretsky Test of Motor Proficiency (BOT-2) results showed that subjects 2 and 4 had numerous fine and gross motor competencies. Corneal clouding progressed in all subjects, while progression of hearing impairment was variable. Liver size normalized from baseline in subjects 1 and 4, and remained normal in subject 2. CONCLUSION: Very early and continuous ERT appears to slow down the clinical course of MPS VI, as shown by preservation of endurance, functional dexterity, and several fine and gross motor competencies after 7.7-9.8 years of treatment, and less growth impairment or progression of cardiac disease than could be expected based on the patients' classical phenotype. ERT does not seem to prevent progression of skeletal or eye disease in the long term.

Obstetrical provider knowledge and attitudes towards cell-free DNA screening: results of a cross-sectional national survey.

BACKGROUND: Cell-free DNA (cfDNA) screening has recently acquired tremendous attention, promising patients and healthcare providers a more accurate prenatal screen for aneuploidy than other current screening modalities. It is unclear how much knowledge regarding cfDNA screening obstetrical providers possess which has important implications for the quality and content of the informed consent patients receive. METHODS: A survey was designed to assess obstetrical provider knowledge and attitudes towards cfDNA screening and distributed online through the Society of Obstetricians & Gynecologists of Canada (SOGC). Chi-squared tests were used to detect differences in knowledge and attitudes between groups. RESULTS: 207 respondents completed the survey, composed of 60.6% Obstetricians/Gynecologists (OB/GYN), 15.4% Maternal Fetal Medicine (MFM) specialists, 16.5% General Practitioners (GP), and 7.5% Midwives (MW). MFM demonstrated a significant trend of being most knowledgeable about cfDNA screening followed by OB/GYN, GP, and lastly MW in almost all aspects of cfDNA screening. All groups demonstrated an overall positive attitude towards cfDNA screening; however, OB/GYN and MFM demonstrated a significantly more positive attitude than GP and MW. Despite not yet being a diagnostic test, 19.4% of GP would offer termination of pregnancy immediately following a positive cfDNA screen result compared to none of the MFM and only few OB/GYN or MW. CONCLUSIONS: We have demonstrated that different types of obstetrical providers possess varying amounts of knowledge regarding cfDNA screening with MFM currently having greater knowledge to all other groups. All obstetrical providers must have adequate prenatal screening understanding so that we can embrace the benefits of this novel and promising technology while protecting the integrity of the informed consent process.

Comparison of first-tier cell-free DNA screening for common aneuploidies with conventional publically funded screening.

OBJECTIVE: This study evaluates the impact of offering cell-free DNA (cfDNA) screening as a first-tier test for trisomies 21 and 18. METHODS: This is a prospective study of pregnant women undergoing conventional prenatal screening who were offered cfDNA screening in the first trimester with clinical outcomes obtained on all pregnancies. RESULTS: A total of 1198 pregnant women were recruited. The detection rate of trisomy 21 with standard screening was 83% with a false positive rate (FPR) of 5.5% compared with 100% detection and 0% FPR for cfDNA screening. The FPR of cfDNA screening for trisomies 18 and 13 was 0.09% for each. Two percent of women underwent an invasive diagnostic procedure based on screening or ultrasound findings; without the cfDNA screening, it could have been as high as 6.8%. Amongst the 640 women with negative cfDNA results and a nuchal translucency (NT) ultrasound, only 3 had an NT greater or equal to 3.5 mm: one had a normal outcome and two lost their pregnancy before 20 weeks. CONCLUSIONS: cfDNA screening has the potential to be a highly effective first-tier screening approach leading to a significant reduction of invasive diagnostic procedures. For women with a negative cfDNA screening result, NT measurement has limited clinical utility.

No-271-Delayed Child-Bearing.

OBJECTIVE: To provide an overview of delayed child-bearing and to describe the implications for women and health care providers . OPTIONS: Delayed child-bearing, which has increased greatly in recent decades, is associated with an increased risk of infertility, pregnancy complications, and adverse pregnancy outcome . This guideline provides information that will optimize the counselling and care of Canadian women with respect to their reproductive choices . OUTCOMES: Maternal age is the most important determinant of fertility, and obstetric and perinatal risks increase with maternal age . Many women are unaware of the success rates or limitations of assisted reproductive technology and of the increased medical risks of delayed child-bearing, including multiple births, preterm delivery, stillbirth, and Caesarean section . This guideline provides a framework to address these issues . EVIDENCE: Studies published between 2000 and August 2010 were retrieved through searches of PubMed and the Cochrane Library using appropriate key words (delayed child-bearing, deferred pregnancy, maternal age, assisted reproductive technology, infertility, and multiple births) and MeSH terms (maternal age, reproductive behaviour, fertility) . The Internet was also searched using similar key words, and national and international medical specialty societies were searched for clinical practice guidelines and position statements . Data were extracted based on the aims, sample, authors, year, and results . VALUES: The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care. SPONSOR: The Society of Obstetricians and Gynaecologists of Canada.

No. 343-Routine Non-invasive Prenatal Prediction of Fetal RHD Genotype in Canada: The Time is Here.

The optimal management of the D-negative pregnant woman is now based on the non-invasive antenatal prediction of fetal D-blood group by cell-free DNA (cfDNA) in maternal plasma, with targeted prophylaxis for women carrying RHD-positive fetuses. This provides the optimal care for D-negative pregnant women and has been adopted as the standard approach in a growing number of countries around the world. This paper is the result of a consensus meeting of the Canadian National Rh Working Group, an interdisciplinary group formed to review the current status of fetal RHD genotyping based on cfDNA in Canada. The group, in collaboration with the SOGC Genetics committee, reviewed the benefits and challenges of implementing RHD genotyping with targeted prophylaxis in the context of the existing routine antenatal anti D prophylaxis program in Canada. The following summary statements and recommendations are based on this review. SUMMARY STATEMENTS: RECOMMENDATIONS.

No 343-Prédiction du génotype RHD fœtal par test prénatal non invasif de routine au Canada : l'heure est venue.

Actuellement, la meilleure façon de prendre en charge les femmes enceintes Rh négatives consiste à prédire la présence ou l'absence de l'antigène D chez le fœtus au moyen d'un test non invasif analysant l'ADN acellulaire (ADNa) dans le plasma maternel, et à administrer une prophylaxie à celles dont l'enfant est RHD positif. Cette approche, prise pour norme dans un nombre croissant de pays, assure aux femmes enceintes Rh négatives des soins optimaux. La présente directive est le fruit d'une réunion de consensus du groupe de travail national sur le facteur Rh du Canada, un groupe interdisciplinaire formé pour examiner la situation nationale actuelle du génotypage RHD fœtal effectué sur l'ADNa. En collaboration avec le Comité de génétique de la SOGC, le groupe s'est penché sur les avantages et les difficultés associés au génotypage RHD combiné à une prophylaxie ciblée dans le contexte du programme de prophylaxie anténatale anti-D de routine canadien existant. De ce travail ont émergé les déclarations sommaires et recommandations suivantes. DéCLARATIONS SOMMAIRES: RECOMMANDATIONS.

No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.

OBJECTIVE: To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. INTENDED USERS: Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. TARGET POPULATION: All pregnant women receiving counselling and providing informed consent for prenatal screening. EVIDENCE: Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to March 2016 using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, non-invasive prenatal screening) and key words (prenatal screening, prenatal genetic counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1985 to May 2016. Searches were updated on a regular basis and incorporated in the guideline. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical speciality societies. GUIDELINE UPDATE: Evidence will be reviewed 5 years after publication to determine whether all or part of the guideline should be updated. However, if important new evidence is published prior to the 5-year cycle, the review process may be accelerated for a more rapid update of some recommendations.

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. TARGET POPULATION: Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). OPTIONS: Women and their partners will be able to obtain appropriate genetic carrier screening information and possible diagnosis of AR, AD, or XL disorders (preferably pre-conception), thereby allowing an informed choice regarding genetic carrier screening and reproductive options (e.g., prenatal diagnosis, preimplantation genetic diagnosis, egg or sperm donation, or adoption). OUTCOMES: Informed reproductive decisions related to genetic carrier screening and reproductive outcomes based on family history, ethnic background, past obstetrical history, known carrier status, or genetic diagnosis. SOGC REPRODUCTIVE CARRIER SCREENING SUMMARY STATEMENT (2016): Pre-conception or prenatal education and counselling for reproductive carrier screening requires a discussion about testing within the three perinatal genetic carrier screening/diagnosis time periods, which include pre-conception, prenatal, and neonatal for conditions currently being screened for and diagnosed. This new information should be added to the standard reproductive carrier screening protocols that are already being utilized by the most responsible maternity provider through the informed consent process with the patient. (III-A; GRADE low/moderate) SOGC OVERVIEW OF RECOMMENDATIONS QUALITY AND GRADE: There was a strong observational/expert opinion (quality and grade) for the genetic carrier literature with randomized controlled trial evidence being available only for the invasive testing. Both the Canadian Task Force on Preventive Health Care quality and classification and the GRADE evidence quality and grade are provided. EVIDENCE: MEDLINE; PubMed; government neonatal screening websites; key words/common reproductive genetic carrier screened diseases/previous SOGC Guidelines/medical academic societies (Society of Maternal-Fetal Medicine [SMFM]; American College of Medical Genetics and Genomics; American College of Obstetricians and Gynecologists [ACOG]; CCMG; Royal College Obstetrics and Gynaecology [RCOG] [UK]; American Society of Human Genetics [ASHG]; International Society of Prenatal Diagnosis [ISPD])/provincial neonatal screening policies and programs; search terms (carrier screening, prenatal screening, neonatal genetic/metabolic screening, cystic fibrosis (CF), thalassemia, hemoglobinopathy, hemophilia, Fragile X syndrome (FXS), spinal muscular atrophy, Ashkenazi Jewish carrier screening, genetic carrier screening protocols, AR, AD, XL). SEARCH PERIOD: 10 years (June 2005-September 2015); initial search dates June 30, 2015 and September 15, 2015; completed final search January 4, 2016. Validation of articles was completed by primary authors RD Wilson and I De Bie. BENEFITS, HARMS, AND COST: Benefits are to provide an evidenced based reproductive genetic carrier screening update consensus based on international opinions and publications for the use of Canadian women, who are planning a pregnancy or who are pregnant and have been identified to be at risk (personal or male partner family or reproductive history) for the transmission of a clinically significant genetic condition to their offspring with associated morbidity and/or mortality. Harm may arise from having counselling and informed testing of the carrier status of the mother, their partner, or their fetus, as well as from declining to have this counselling and informed testing or from not having the opportunity for counselling and informed testing. Costs will ensue both from the provision of opportunities for counselling and testing, as well as when no such opportunities are offered or are declined and the birth of a child with a significant inherited condition and resulting morbidity/mortality occurs; these comprise not only the health care costs to the system but also the social/financial/psychological/emotional costs to the family. These recommendations are based on expert opinion and have not been subjected to a health economics assessment and local or provincial implementation will be required. GUIDELINE UPDATE: This guideline is an update of four previous joint SOGC-CCMG Genetic Screening Guidelines dated 2002, 2006, 2008, and 2008 developed by the SOGC Genetic Committee in collaboration with the CCMG Prenatal Diagnosis Committee (now Clinical Practice Committee). 2016 CARRIER SCREENING RECOMMENDATIONS.

RETIRED: Technical Update: Preimplantation Genetic Diagnosis and Screening

This document has been archived because it contains outdated information. It should not be consulted for clinical use, but for historical research only. Please visit the journal website for the most recent guidelines.

Ce document a été archivé, car il contient des informations périmées. Il ne devrait pas être consulté pour un usage clinique, mais uniquement pour des recherches historiques. Veuillez consulter le site web du journal pour les directives les plus récentes.

Pre-conception Folic Acid and Multivitamin Supplementation for the Primary and Secondary Prevention of Neural Tube Defects and Other Folic Acid-Sensitive Congenital Anomalies.

OBJECTIVE: To provide updated information on the pre- and post-conception use of oral folic acid with or without a multivitamin/micronutrient supplement for the prevention of neural tube defects and other congenital anomalies. This will help physicians, midwives, nurses, and other health care workers to assist in the education of women about the proper use and dosage of folic acid/multivitamin supplementation before and during pregnancy. EVIDENCE: Published literature was retrieved through searches of PubMed, Medline, CINAHL, and the Cochrane Library in January 2011 using appropriate controlled vocabulary and key words (e.g., folic acid, prenatal multivitamins, folate sensitive birth defects, congenital anomaly risk reduction, pre-conception counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1985 and June 2014. Searches were updated on a regular basis and incorporated in the guideline to June 2014 Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Costs, risks, and benefits: The financial costs are those of daily vitamin supplementation and eating a healthy folate-enriched diet. The risks are of a reported association of dietary folic acid supplementation with fetal epigenetic modifications and with an increased likelihood of a twin pregnancy. These associations may require consideration before initiating folic acid supplementation. The benefit of folic acid oral supplementation or dietary folate intake combined with a multivitamin/micronutrient supplement is an associated decrease in neural tube defects and perhaps in other specific birth defects and obstetrical complications. VALUES: The quality of evidence in the document was rated using the criteria described in the Report of the Canadian Task Force on Preventative Health Care (Table 1). Summary Statement In Canada multivitamin tablets with folic acid are usually available in 3 formats: regular over-the-counter multivitamins with 0.4 to 0.6 mg folic acid, prenatal over-the-counter multivitamins with 1.0 mg folic acid, and prescription multivitamins with 5.0 mg folic acid. (III) Recommendations 1. Women should be advised to maintain a healthy folate-rich diet; however, folic acid/multivitamin supplementation is needed to achieve the red blood cell folate levels associated with maximal protection against neural tube defect. (III-A) 2. All women in the reproductive age group (12-45 years of age) who have preserved fertility (a pregnancy is possible) should be advised about the benefits of folic acid in a multivitamin supplementation during medical wellness visits (birth control renewal, Pap testing, yearly gynaecological examination) whether or not a pregnancy is contemplated. Because so many pregnancies are unplanned, this applies to all women who may become pregnant. (III-A) 3. Folic acid supplementation is unlikely to mask vitamin B12 deficiency (pernicious anemia). Investigations (examination or laboratory) are not required prior to initiating folic acid supplementation for women with a risk for primary or recurrent neural tube or other folic acid-sensitive congenital anomalies who are considering a pregnancy. It is recommended that folic acid be taken in a multivitamin including 2.6 ug/day of vitamin B12 to mitigate even theoretical concerns. (II-2A) 4. Women at HIGH RISK, for whom a folic acid dose greater than 1 mg is indicated, taking a multivitamin tablet containing folic acid, should be advised to follow the product label and not to take more than 1 daily dose of the multivitamin supplement. Additional tablets containing only folic acid should be taken to achieve the desired dose. (II-2A) 5. Women with a LOW RISK for a neural tube defect or other folic acid-sensitive congenital anomaly and a male partner with low risk require a diet of folate-rich foods and a daily oral multivitamin supplement containing 0.4 mg folic acid for at least 2 to 3 months before conception, throughout the pregnancy, and for 4 to 6 weeks postpartum or as long as breast-feeding continues. (II-2A) 6. Women with a MODERATE RISK for a neural tube defect or other folic acid-sensitive congenital anomaly or a male partner with moderate risk require a diet of folate-rich foods and daily oral supplementation with a multivitamin containing 1.0 mg folic acid, beginning at least 3 months before conception. Women should continue this regime until 12 weeks' gestational age. (1-A) From 12 weeks' gestational age, continuing through the pregnancy, and for 4 to 6 weeks postpartum or as long as breast-feeding continues, continued daily supplementation should consist of a multivitamin with 0.4 to 1.0 mg folic acid. (II-2A) 7. Women with an increased or HIGH RISK for a neural tube defect, a male partner with a personal history of neural tube defect, or history of a previous neural tube defect pregnancy in either partner require a diet of folate-rich foods and a daily oral supplement with 4.0 mg folic acid for at least 3 months before conception and until 12 weeks' gestational age. From 12 weeks' gestational age, continuing throughout the pregnancy, and for 4 to 6 weeks postpartum or as long as breast-feeding continues, continued daily supplementation should consist of a multivitamin with 0.4 to 1.0 mg folic acid. (I-A). The same dietary and supplementation regime should be followed if either partner has had a previous pregnancy with a neural tube defect. (II-2A).

Objectif : Offrir des renseignements à jour sur l'utilisation pré et postconceptionnelle d'acide folique par voie orale, avec ou sans supplément de multivitamines / micronutriments, aux fins de la prévention des anomalies du tube neural et d'autres anomalies congénitales. Ces renseignements aideront les médecins, les sages-femmes, les infirmières et les autres professionnels de la santé à contribuer aux efforts de sensibilisation des femmes quant à l'utilisation et aux posologies adéquates de la supplémentation en acide folique / multivitamines, avant et pendant la grossesse. Résultats : La littérature publiée a été récupérée par l'intermédiaire de recherches menées dans PubMed, Medline, CINAHL et la Cochrane Library en janvier 2011 au moyen d'un vocabulaire contrôlé et de mots clés appropriés (p. ex. « folic acid ¼, « prenatal multivitamins ¼, « folate sensitive birth defects ¼, « congenital anomaly risk reduction ¼, « pre-conception counselling ¼). Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu'en juin 2014. La littérature grise (non publiée) a été identifiée par l'intermédiaire de recherches menées dans les sites Web d'organismes s'intéressant à l'évaluation des technologies dans le domaine de la santé et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques, et auprès de sociétés de spécialité médicale nationales et internationales. Coûts, risques et avantages : Les coûts financiers sont ceux de la supplémentation quotidienne en vitamines et de la consommation d'un régime alimentaire santé enrichi en folate. Les risques sont ceux qui sont liés à une association signalée entre la supplémentation alimentaire en acide folique et des modifications épigénétiques fœtales / la probabilité accrue d'obtenir une grossesse gémellaire. Ces associations pourraient devoir être prises en considération avant la mise en œuvre d'une supplémentation en acide folique. La supplémentation en acide folique par voie orale (ou l'apport alimentaire en folate combiné à un supplément de multivitamines / micronutriments) a pour avantage de mener à une baisse connexe du taux d'anomalies du tube neural et peut-être même des taux d'autres complications obstétricales et anomalies congénitales particulières. Valeurs : La qualité des résultats est évaluée au moyen des critères décrits par le Groupe d'étude canadien sur les soins de santé préventifs (Tableau). Déclaration sommaire 1. Au Canada, les comprimés de multivitamines comptant de l'acide folique sont habituellement offerts en 3 formats : multivitamines régulières en vente libre comptant de 0,4 à 0,6 mg d'acide folique, multivitamines prénatales en vente libre comptant 1,0 mg d'acide folique et multivitamines d'ordonnance comptant 5,0 mg d'acide folique. (III) Recommandations 1. Les femmes devraient se voir conseiller de maintenir un régime alimentaire santé riche en folate; la mise en œuvre d'une supplémentation en acide folique / multivitamines s'avère cependant requise pour leur assurer l'obtention des taux érythrocytaires de folate qui sont associés à l'octroi d'une protection maximale contre les anomalies du tube neural. (III-A) 2. Toutes les femmes en âge de procréer (12-45 ans) qui sont toujours fertiles (la grossesse demeure possible) devraient se voir offrir, dans le cadre de leurs consultations gynécologiques de dépistage (renouvellement de la contraception, test de Pap, examen gynécologique annuel), des services de counseling au sujet des avantages de l'acide folique administré sous forme d'une supplémentation multivitaminique, et ce, qu'elles envisagent ou non de connaître une grossesse. Puisqu'un si grand nombre de grossesses se manifestent de façon inattendue, cette recommandation s'applique à toutes les femmes qui pourraient devenir enceintes. (III-A) 3. La supplémentation en acide folique est peu susceptible de masquer la carence en vitamine B12 (anémie pernicieuse). La tenue d'explorations (examen ou épreuves de laboratoire) n'est pas requise avant la mise en œuvre d'une supplémentation en acide folique chez les femmes exposées à des risques d'anomalies du tube neural (ou d'autres anomalies congénitales sensibles à l'acide folique) primaires ou récurrentes qui envisagent une grossesse. Il est recommandé que l'acide folique soit administré sous forme de multivitamines comptant également 2,6 µg/jour de vitamine B12, de façon à atténuer toutes les préoccupations (même celles qui sont théoriques). (II-2A) 4. Les femmes exposées à des RISQUES ÉLEVÉS (pour lesquelles une dose d'acide folique supérieure à 1 mg s'avère indiquée) qui prennent des multivitamines contenant de l'acide folique devraient être avisées de respecter les consignes d'utilisation du produit en question et de ne pas prendre plus d'une dose quotidienne de supplément multivitaminique; ces femmes devraient plutôt prendre des comprimés additionnels ne contenant que de l'acide folique pour obtenir la dose requise. (II-2A) 5. Pendant au moins les deux à trois mois précédant la conception, tout au long de la grossesse et pendant de quatre à six semaines à la suite de l'accouchement (ou tant et aussi longtemps que se poursuit l'allaitement), les femmes qui sont exposées à un FAIBLE RISQUE d'anomalie du tube neural ou d'autres anomalies congénitales sensibles à l'acide folique et qui comptent un partenaire masculin également exposé à un faible risque doivent adopter un régime alimentaire composé d'aliments riches en folate et prendre un supplément multivitaminique oral quotidien contenant 0,4 mg d'acide folique. (II-2A) 6. À partir d'au moins trois mois avant la conception, les femmes qui sont exposées à un RISQUE MODÉRÉ d'anomalie du tube neural ou d'autres anomalies congénitales sensibles à l'acide folique et qui comptent un partenaire masculin également exposé à un risque modéré doivent adopter un régime alimentaire composé d'aliments riches en folate et prendre un supplément multivitaminique oral quotidien contenant 1 mg d'acide folique. Ces femmes devraient poursuivre l'utilisation de cette posologie jusqu'à l'atteinte d'un âge gestationnel de 12 semaines. (1-A) À partir de 12 semaines d'âge gestationnel, tout au long du reste de la grossesse et pendant de quatre à six semaines postpartum (ou tant et aussi longtemps que se poursuit l'allaitement), la supplémentation quotidienne utilisée devrait être composée d'une multivitamine contenant de 0,4 à 1,0 mg d'acide folique. (II-2A) 7. Pendant au moins trois mois avant la conception et jusqu'à l'atteinte d'un âge gestationnel de 12 semaines, les femmes qui sont exposées à un RISQUE ÉLEVÉ ou accru d'anomalie du tube neural et qui comptent un partenaire masculin présentant des antécédents personnels d'anomalie du tube neural (ou encore en présence d'antécédents personnels ou familiaux de grossesse affectée par une anomalie du tube neural chez l'un ou l'autre des partenaires) doivent adopter un régime alimentaire composé d'aliments riches en folate et prendre un supplément oral quotidien de 4 mg d'acide folique. À partir de 12 semaines d'âge gestationnel, tout au long du reste de la grossesse et pendant de quatre à six semaines postpartum (ou tant et aussi longtemps que se poursuit l'allaitement), la supplémentation quotidienne utilisée devrait être composée d'une multivitamine contenant de 0,4 à 1,0 mg d'acide folique. (I-A) Le même régime alimentaire et de supplémentation devrait être respecté en présence d'antécédents personnels ou familiaux de grossesse affectée par une anomalie du tube neural chez l'un ou l'autre des partenaires. (II-2A).

Prospective Validation of First-Trimester Screening for Preterm Preeclampsia in Nulliparous Women (PREDICTION Study).

BACKGROUND: Fetal Medicine Foundation (FMF) studies suggest that preterm preeclampsia can be predicted in the first trimester by combining biophysical, biochemical, and ultrasound markers and prevented using aspirin. We aimed to evaluate the FMF preterm preeclampsia screening test in nulliparous women. METHODS: We conducted a prospective multicenter cohort study of nulliparous women recruited at 11 to 14 weeks. Maternal characteristics, mean arterial blood pressure, PAPP-A (pregnancy-associated plasma protein A), PlGF (placental growth factor) in maternal blood, and uterine artery pulsatility index were collected at recruitment. The risk of preterm preeclampsia was calculated by a third party blinded to pregnancy outcomes. Receiver operating characteristic curves were used to estimate the detection rate (sensitivity) and the false-positive rate (1-specificity) for preterm (<37 weeks) and for early-onset (<34 weeks) preeclampsia according to the FMF screening test and according to the American College of Obstetricians and Gynecologists criteria. RESULTS: We recruited 7554 participants including 7325 (97%) who remained eligible after 20 weeks of which 65 (0.9%) developed preterm preeclampsia, and 22 (0.3%) developed early-onset preeclampsia. Using the FMF algorithm (cutoff of ≥1 in 110 for preterm preeclampsia), the detection rate was 63.1% for preterm preeclampsia and 77.3% for early-onset preeclampsia at a false-positive rate of 15.8%. Using the American College of Obstetricians and Gynecologists criteria, the equivalent detection rates would have been 61.5% and 59.1%, respectively, for a false-positive rate of 34.3%. CONCLUSIONS: The first-trimester FMF preeclampsia screening test predicts two-thirds of preterm preeclampsia and three-quarters of early-onset preeclampsia in nulliparous women, with a false-positive rate of ≈16%. REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT02189148.

Impact of observed versus hypothesized service utilization on the incremental cost of first trimester screening and prenatal diagnosis for trisomy 21 in a Canadian province.

OBJECTIVE: The aim of this research was to determine the impact of observed versus hypothesized service utilization on the cost of first trimester screening (FTS) and prenatal diagnosis for trisomy 21 in a Canadian province. METHODS: A population-based pregnancy cohort was created by linking 12 clinical and administrative databases. Care trajectories were derived to examine utilization patterns for FTS, prenatal diagnosis, and pregnancy termination. A literature review was conducted to determine what utilization parameters were used in economic evaluations of FTS. Local cost data was applied to observed and hypothesized care trajectories. RESULTS: The observed mean cost per fetus with trisomy 21 detected prenatally using FTS was $129,606.04 compared with $27,021.45 for women who did not access FTS. Observed utilization of FTS and prenatal diagnosis among screen positive women and termination of pregnancy following prenatal diagnosis of trisomy 21 were substantially lower than hypothesized in existing cost effectiveness studies. Cost estimates were sensitive to hypothetical changes in utilization of prenatal screening, prenatal diagnosis, and pregnancy termination. CONCLUSION: Literature-based estimates of the cost-effectiveness of prenatal screening may not accurately represent current local practice due to potentially unrealistic assumptions about what proportion of women will proceed to invasive testing and ultimately terminate an affected pregnancy.

Assessing the impact of the SOGC recommendations to increase access to prenatal screening on overall use of health resources in pregnancy.

OBJECTIVES: The 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. METHODS: Twelve 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. RESULTS: Women 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 resources CONCLUSION: In 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.

Objectifs : La recommandation de la Société des obstétriciens et gynécologues du Canada voulant que le dépistage prénatal de l'aneuploïdie fœtale soit offert à toutes les femmes enceintes constitue un changement important dans le domaine de l'obstétrique clinique. Toutefois, nous ne savons pas comment cette recommandation pourrait affecter l'utilisation d'autres ressources de santé au cours de la grossesse. Méthodes : Douze bases de données cliniques et administratives ont été liées, et des cheminements cliniques décrivant l'utilisation typique de services pendant la grossesse ont été créés en fonction du type de dépistage prénatal utilisé (dépistage au cours du premier trimestre [DPT], dépistage sérique maternel [DSM], dépistage effractif seulement ou aucun dépistage et/ou diagnostic). Des modèles logistique, de Poisson et binomial négatif ont été appliqués aux données pour examiner l'association entre l'utilisation du dépistage / diagnostic prénatal et celle d'autres services de santé pendant la grossesse. Résultats : Les femmes qui ont eu recours au dépistage / diagnostic prénatal étaient considérablement plus susceptibles de consulter un généticien médical (DPT, RC, 2,42; IC à 95 %, 1,75 - 3,33; DSM, RC, 4,84; IC à 95 %, 2,92 - 8,03; et dépistage effractif, RC, 8,58; IC à 95 %, 5,28 - 13,94); de plus, les femmes qui ont eu recours au DPT comptaient plus de consultations prénatales (DPT, ratio des taux d'incidence, 1,03; IC à 95 %, 1,01 - 1,05) que les femmes qui n'ont pas eu recours au dépistage / diagnostic prénatal. La mesure dans laquelle les tests effractifs ont été utilisés ne présentait pas de différence chez les femmes qui ont eu recours au DPT et chez celles qui ont eu recours au DSM. L'utilisation du dépistage / diagnostic prénatal n'a pas été associée de façon significative à l'utilisation de la plupart des autres ressources de santé. Conclusion : Dans le cadre d'un système de santé bénéficiant d'un financement public, il est important de comprendre les effets qu'exercent, sur d'autres services, les recommandations voulant augmenter l'accès à un service particulier. Les recommandations voulant augmenter l'accès aux services de dépistage prénatal pourraient exercer des effets en aval non prévus sur l'utilisation d'autres services pendant la grossesse. Toutefois, la plupart des aspects de l'utilisation des ressources de santé pendant la grossesse ne semblent pas être influencés par l'utilisation des services de dépistage prénatal.

First-trimester preeclampsia screening and prevention: impact on patient satisfaction and anxiety.

BACKGROUND: Preeclampsia affects between 2% and 5% of pregnant people in North America. First-trimester preeclampsia screening based on the Fetal Medicine Foundation risk calculation algorithm combined with treatment of high-risk patients with aspirin effectively reduces the incidence of preterm preeclampsia more than the currently used risk factor-based screening. However, the impact of such screening on patient satisfaction and maternal anxiety is unknown. OBJECTIVE: This study aimed to assess the impact of first-trimester prediction and prevention of preterm preeclampsia on patient satisfaction and anxiety. STUDY DESIGN: Consenting pregnant patients participating in a local first-trimester (11-13+6 weeks) preterm preeclampsia screening and prevention implementation study1 were contacted 6 weeks postpartum to complete an online patient satisfaction survey, designed to assess their satisfaction with the screening program and their levels of trait anxiety (using an abbreviated version of the State-Trait Anxiety Inventory [STAIT-5]). In addition to assessing overall patient satisfaction, the level of patient satisfaction was stratified and compared according to levels of patient risk for preterm preeclampsia. RESULTS: Between June 2021 and December 2021, surveys were emailed to 765 participants. The response rate was 47.80% (358/765). Overall, 93% of participants reported high levels of satisfaction with preterm preeclampsia screening (70%-100%), and 98% stated that they would recommend the screening to all pregnant patients. With respect to levels of satisfaction with the program's support in reducing feelings of worry and anxiety, 87.9% of the total sample reported high satisfaction (70%-100%). The level of clinically significant symptoms of anxiety did not differ significantly between low- and high-risk groups (8% vs 10.8%, respectively). CONCLUSION: Overall, first-trimester preeclampsia screening was associated with high patient satisfaction and did not lead to differences in patient anxiety between those with high- and low-risk screen results.