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Objective To update and review the techniques and indications of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Options Discussion about the genetic and technical aspects of preimplantation reproductive techniques, particularly those using new cytogenetic technologies and embryo-stage biopsy. Outcomes Clinical outcomes of reproductive techniques following the use of PGD and PGS are included. This update does not discuss in detail the adverse outcomes that have been recorded in association with assisted reproductive technologies. Evidence Published literature was retrieved through searches of The Cochrane Library and Medline in April 2014 using appropriate controlled vocabulary (aneuploidy, blastocyst/physiology, genetic diseases, preimplantation diagnosis/methods, fertilization in vitro) and key words (e.g., preimplantation genetic diagnosis, preimplantation genetic screening, comprehensive chromosome screening, aCGH, SNP microarray, qPCR, and embryo selection). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies published from 1990 to April 2014. There were no language restrictions. Searches were updated on a regular basis and incorporated in the update to January 2015. Additional publications were identified from the bibliographies of retrieved articles. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline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. Values The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care. (Table 1) Benefits, harms, and costs This update will educate readers about new preimplantation genetic concepts, directions, and technologies. The major harms and costs identified are those of assisted reproductive technologies. Summary Preimplantation genetic diagnosis is an alternative to prenatal diagnosis for the detection of genetic disorders in couples at risk of transmitting a genetic condition to their offspring. Preimplantation genetic screening is being proposed to improve the effectiveness of in vitro fertilization by screening for embryonic aneuploidy. Though FISH-based PGS showed adverse effects on IVF success, emerging evidence from new studies using comprehensive chromosome screening technology appears promising.

Resume Objectif Offrir aux fournisseurs de soins de maternite et a leurs patientes des lignes directrices factuelles contemporaines en ce qui concerne les services de counseling traitant des risques et des avantages maternels propres a la tenue des interventions diagnostiques prenatales orientees par echographie (et/ou des techniques permettant l'etablissement d'un diagnostic genetique) necessaires dans les cas ou il a ete etabli pendant la periode prenatale que la grossesse serait exposee a des risques, ainsi qu'en ce qui concerne la prise de decisions subsequentes quant a la prise en charge de la grossesse (questions abordant des aspects tels que le niveau du fournisseur de soins obstetricaux, la surveillance prenatale, le lieu ou devraient se derouler les soins et l'accouchement, et la decision de poursuivre ou d'interrompre la grossesse). La presente directive clinique se limite aux services de counseling traitant des risques et des avantages maternels, et aux decisions en matiere de prise en charge de la grossesse pour les femmes qui necessitent (ou qui envisagent) la mise en oeuvre d'une intervention ou d'une technique effractive orientee par echographie aux fins de l'etablissement d'un diagnostic prenatal. Population de patientes Femmes enceintes identifiees, a la suite de la mise en oeuvre de protocoles etablis de depistage prenatal (taux seriques maternels ± imagerie, resultats d'analyse de l'ADN acellulaire indiquant des risques eleves, resultats anormaux au moment de l'imagerie foetale diagnostique ou antecedents familiaux de troubles hereditaires), comme etant exposees a un risque accru d'anomalie genetique foetale. Ces femmes pourraient necessiter ou demander des services de counseling au sujet des risques et des avantages pour la grossesse de la tenue d'une intervention effractive orientee par echographie visant a determiner l'etiologie, le diagnostic, et/ou la pathologie de possibles anomalies foetales.

Objective To provide a review of published studies on the use of cell-free fetal DNA in maternal plasma for the non-invasive diagnosis of Down syndrome, trisomy 18, and trisomy 13. Evidence: PubMed was searched for articles published between 2006 and October 2012, using appropriate key words (e.g., non-invasive prenatal diagnosis, Down syndrome, cell-free fetal DNA, aneuploidy screening). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated in the guideline to October 31, 2012. 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. Values: The studies reviewed were classified according to criteria described by the Canadian Task Force on Preventive Health Care, and the recommendations for practice were ranked according to this classification (Table 1).

To provide Canadian health care providers with current information on the use of quantitative fluorescent polymerase chain reaction (QF-PCR) or equivalent technology in the prenatal diagnosis of fetal chromosomal abnormalities.Over the last few decades, prenatal diagnosis of fetal chromosomal abnormalities has relied on conventional cytogenetic analysis of cultured amniocytes, chorionic villi, or fetal blood. In the last few years, the clinical validity of a newer technique, QF-PCR, to detect the common aneuploidies has been reported by a number of investigators. This technique has the advantage of providing rapid results for the diagnosis or exclusion of aneuploidy in chromosomes 13, 18, 21, X or Y. It is now possible to choose standard chromosome analysis or QF-PCR for the prenatal diagnosis of chromosomal abnormalities, or to perform both tests, depending on the clinical indication for testing. This document reviews the clinical utility of QF-PCR and makes recommendations for its use in the care of Canadian patients.Medline and PubMed were searched for articles published in English between January 2000 and December 2010 that presented data on the use of QF-PCR versus standard cytogenetic analysis of prenatal samples. A second search was done to identify publications in English that provided results of cytogenetic analysis performed on prenatal samples for women at an increased risk of fetal aneuploidy because of maternal age, abnormal prenatal screening results, or fetal soft ultrasound markers suggestive of an increased risk of aneuploidy. Publications were included if they provided detailed information on the abnormalities detected, regardless of whether or not rapid aneuploidy screening was undertaken. Results were restricted to systematic reviews, randomized controlled trials, and relevant observational studies. 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 quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).This guideline promotes the use of a rapid aneuploidy DNA test for women at increased risk of having a pregnancy affected by a common aneuploidy. This will have the benefit of providing rapid and accurate results to women at increased risk of fetal Down syndrome, trisomy 13, trisomy 18, sex chromosome aneuploidy or triploidy. It will also promote better use of laboratory resources and reduce the cost of prenatal diagnosis. However, a small percentage of pregnancies with a potentially clinically significant chromosomal abnormality will remain undetected by QF-PCR but detectable by conventional cytogenetics. Recommendations 1. QF-PCR is a reliable method to detect trisomies and should replace conventional cytogenetic analysis whenever prenatal testing is performed solely because of an increased risk of aneuploidy in chromosomes 13, 18, 21, X or Y. As with all tests, pretest counselling should include a discussion of the benefits and limitations of the test. In the initial period of use, education for health care providers will be required. (II-2A) 2. Both conventional cytogenetics and QF-PCR should be performed in all cases of prenatal diagnosis referred for a fetal ultrasound abnormality (including an increased nuchal translucency measurement3.5 mm) or a familial chromosomal rearrangement. (II-2A) 3. Cytogenetic follow-up of QF-PCR findings of trisomy 13 and 21 is recommended to rule out inherited Robertsonian translocations. However, the decision to set up a back-up culture for all cases that would allow for traditional cytogenetic testing if indicated by additional clinical or laboratory information should be made by each centre offering the testing according to the local clinical and laboratory experience and resources. (III-A) 4. Other technologies for the rapid detection of aneuploidy may replace QF-PCR if they offer a similar or improved performance for the detection of trisomy 13, 18, 21, and sex chromosome aneuploidy. (III-A).

To review the literature with respect to the use of diagnostic ultrasound in the management of twin pregnancies. To make recommendations for the best use of ultrasound in twin pregnancies.Reduction in perinatal mortality and morbidity and short- and long-term neonatal morbidity in twin pregnancies. Optimization of ultrasound use in twin pregnancies.Published literature was retrieved through searches of PubMed and the Cochrane Library in 2008 and 2009 using appropriate controlled vocabulary (e.g., twin, ultrasound, cervix, prematurity) and key words (e.g., acardiac, twin, reversed arterial perfusion, twin-to-twin transfusion syndrome, amniotic fluid). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date restrictions. Studies were restricted to those with available English or French abstracts or text. Searches were updated on a regular basis and incorporated into the guideline to September 2009. 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 evidence collected was reviewed by the Diagnostic Imaging Committee of the Society of Obstetricians and Gynaecologists of Canada, with input from members of the Maternal Fetal Medicine Committee and the Genetics Committee of the SOGC. The recommendations were made according to the guidelines developed by The Canadian Task Force on Preventive Health Care (Table 1).The benefit expected from this guideline is facilitation and optimization of the use of ultrasound in twin pregnancy. SUMMARY STATEMENTS: 1. There are insufficient data to make recommendations on repeat anatomical assessments in twin pregnancies. Therefore, a complete anatomical survey at each scan may not be needed following a complete and normal assessment. (III) 2. There are insufficient data to recommend a routine preterm labour surveillance protocol in terms of frequency, timing, and optimal cervical length thresholds. (II-2) 3. Singleton growth curves currently provide the best predictors of adverse outcome in twins and may be used for evaluating growth abnormalities. (III) 4. It is suggested that growth discordance be defined using either a difference (20 mm) in absolute measurement in abdominal circumference or a difference of 20% in ultrasound-derived estimated fetal weight. (II-2) 5. Although there is insufficient evidence to recommend a specific schedule for ultrasound assessment of twin gestation, most experts recommend serial ultrasound assessment every 2 to 3 weeks, starting at 16 weeks of gestation for monochorionic pregnancies and every 3 to 4 weeks, starting from the anatomy scan (18 to 22 weeks) for dichorionic pregnancies. (II-1) 6. Umbilical artery Doppler may be useful in the surveillance of twin gestations when there are complications involving the placental circulation or fetal hemodynamic physiology. (II-2) 7. Although many methods of evaluating the level of amniotic fluid in twins (deepest vertical pocket, single pocket, amniotic fluid index) have been described, there is not enough evidence to suggest that one method is more predictive than the others of adverse pregnancy outcome. (II-3) 8. Referral to an appropriate high-risk pregnancy centre is indicated when complications unique to twins are suspected on ultrasound. (II-2) These complications include: 1. Twin-to-twin transfusion syndrome 2. Monoamniotic twins gestation 3. Conjoined twins 4. Twin reversed arterial perfusion sequence 5. Single fetal death in the second or third trimester 6. Growth discordance in monochorionic twins. Recommendations 1. All patients who are suspected to have a twin pregnancy on first trimester physical examination or who are at risk (e.g., pregnancies resulting from assisted reproductive technologies) should have first trimester ultrasound performed. (II-2A) 2. Every attempt should be made to determine and report amnionicity and chorionicity when a twin pregnancy is identified. (II-2A) 3. Although the accuracy in confirmation of gestational age at the first and second trimester is comparable, dating should be done with first trimester ultrasound. (II-2A) 4. Beyond the first trimester, it is suggested that a combination of parameters rather than a single parameter should be used to confirm gestational age. (II-2C) 5. When twin pregnancy is the result of in vitro fertilization, accurate determination of gestational age should be made from the date of embryo transfer. (II-1A) 6. There is insufficient evidence to make a recommendation of which fetus (when discordant for size) to use to date a twin pregnancy. However, to avoid missing a situation of early intrauterine growth restriction in one twin, most experts agree that the clinician may consider dating pregnancy using the larger fetus. (III-C) 7. In twin pregnancies, aneuploidy screening using nuchal transluscency measurements should be offered. (II-2B) 8. Detailed ultrasound examination to screen for fetal anomalies should be offered, preferably between 18 and 22 weeks' gestation, in all twin pregnancies. (II-2B) 9. When ultrasound is used to screen for preterm birth in a twin gestation, endovaginal ultrasound measurement of the cervical length should be performed. (II-2A) 10. Increased fetal surveillance should be considered when there is either growth restriction diagnosed in one twin or significant growth discordance. (II-2A) 11. Umbilical artery Doppler should not be routinely offered in uncomplicated twin pregnancies. (I-E) 12. For defining oligohydramnios and polyhydramnios, the ultrasonographer should use the deepest vertical pocket in either sac: oligohydramnios when2 cm and polyhydramnios when8 cm. (II-2B).

Objectives To evaluate diagnostic performance of intracranial translucency (IT) for detection of open spina bifida and interobserver agreement for visualization of IT during the 11–13-week scan. Methods A retrospective study was undertaken in a tertiary referral center. Two hundred 11–13-week scans for nuchal translucency, performed by sonographers certified by The Fetal Medicine Foundation, UK, were reviewed independently for IT by two expert observers. When IT was not seen, the observers determined whether this was due to poor IT image quality or the presence of spina bifida. Discordant cases were reviewed by a third observer and the majority decision was used for analysis. All observers were blinded to individual pregnancy outcome and the number of cases with spina bifida. Results There were 191 normal fetuses, eight fetuses with open spina bifida and one with closed spina bifida (this case was excluded from analysis). IT was seen in 150 fetuses and all were normal. In six of the 49 cases in which IT was not seen, IT non-visibility was attributed to open spina bifida; among these cases, four fetuses had open spina bifida and two were normal. In the remaining 43 cases (including 39 normal fetuses), IT non-visibility was attributed to inadequate image quality. Sensitivity was 50% (4/8) and specificity was 99% (150/152). Concordance between the two observers concerning IT visibility was 79%, (κ = 0.47, representing moderate agreement). Conclusion There was moderate interobserver agreement for visualization of IT on images obtained for nuchal translucency measurement at 11–13 weeks. When IT was confidently seen, open spina bifida could be excluded. However, non-visibility of IT correctly diagnosed only 50% of fetuses with open spina bifida. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

Resume Objectif Analyser le risque d'infection in utero attribuable aux interventions effractives prenatales chez les femmes qui presentent des infections par le virus de l'hepatite B, le virus de l'hepatite C et/ou le virus de l'immunodeficience humaine (VIH). Issues Morbidite et mortalite foetales et neonatales. Resultats La litterature publiee a ete recuperee par l'intermediaire de recherches menees dans Medline, CINAHL et The Cochrane Library au moyen d'un vocabulaire controle (p. ex. « amniocentesis », « chorionic villus sampling », « cordocentesis », « fetal and neonatal infection ») et de mots cles (p. ex. « hepatitis B », « hepatitis C », « HIV ») appropries. Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles publies en anglais ou en francais entre 2002 et 2012 (les etudes publiees entre 1966 et 2002 ont deja fait l'objet d'une analyse dans le cadre de la directive clinique n° 123). Les recherches ont ete mises a jour de facon reguliere et integrees a la directive clinique jusqu'en fevrier 2014. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs La qualite des resultats est evaluee au moyen des criteres decrits dans le rapport du Groupe d'etude canadien sur les soins de sante preventifs (Tableau). Recommandations 1.Pour l'evaluation du risque prenatal chez les femmes infectees par le virus de l'hepatite B, le virus de l'hepatite C et/ou le virus de l'immunodeficience humaine, il est recommande d'utiliser des methodes non effractives qui font appel a des tests comptant une sensibilite elevee et un faible taux de faux positif (comme le depistage serique combine [ou non] a la mesure de la clarte nucale, l'echographie anatomique et le depistage prenatal moleculaire non effractif). (III-B) 2.Dans le cas des femmes infectees par le virus de l'hepatite B, le virus de l'hepatite C et/ou le virus de l'immunodeficience humaine qui doivent subir une amniocentese, aucun effort ne devrait etre menage pour faire en sorte d'eviter d'inserer l'aiguille au travers du placenta ou tres pres de ce dernier. (II-2B) 3.Nous ne disposons que de peu de donnees au sujet des autres interventions effractives prenatales diagnostiques et therapeutiques; nous devrions donc proceder a l'analyse des risques et des avantages de telles interventions avant de les utiliser. (III-C) 4.Le taux d'infection neonatale par le virus de l'hepatite B qui est attribuable a l'amniocentese peut atteindre jusqu'a 1,4 % chez les nouveau-nes issus de meres seropositives pour l'antigene de surface de l'hepatite B. Toutefois, le taux d'infection neonatale attribuable a l'amniocentese chez les nouveau-nes issus de meres seropositives pour l'antigene e de l'hepatite B pourrait atteindre pas moins de 16 %. Bien que l'on n'ait constate aucune difference significative sur le plan statistique en matiere de taux d'infection entre les nouveau-nes exposes a l'amniocentese et ceux qui ne l'ont pas ete, au sein de ces deux populations maternelles, le fait de connaitre l'etat serologique de la mere quant a l'antigene e de l'hepatite B pourrait se reveler utile au moment de lui offrir des renseignements au sujet des risques associes a l'amniocentese. (II-2A) 5.Chez les femmes infectees par le virus de l'hepatite C, la tenue d'une amniocentese ne semble pas entrainer une hausse significative du risque de transmission verticale; quoi qu'il en soit, les femmes devraient etre avisees que tres peu d'etudes se sont adequatement penchees sur une telle possibilite. (II-2C) La tenue d'autres recherches a ce sujet est recommandee. (III-L) 6.Chez les femmes infectees par le virus de l'immunodeficience humaine qui font l'objet d'un traitement antiretroviral combine, l'amniocentese ne semble pas entrainer une hausse significative du risque de transmission verticale, particulierement lorsque la charge virale est indetectable; quoi qu'il en soit, les femmes devraient etre avisees que nous ne disposons que de peu de donnees sur le sujet. (II-2B) 7.Chez les femmes qui ne font pas l'objet d'un traitement antiretroviral combine, la tenue d'une amniocentese entraine la hausse du risque de transmission verticale. Dans la mesure du possible, l'administration d'un traitement antiretroviral combine devrait etre entamee et la tenue de l'amniocentese devrait etre differee jusqu'a ce que la charge virale devienne indetectable. Les autres aspects de la prise en charge devraient etre personnalises en consultation avec des specialistes en maladies infectieuses et des obstetriciens. (III-B)

Objective To investigate the associations between four defined adverse pregnancy outcomes and levels of first and second trimester maternal serum markers focusing in particular on how well combinations of markers predict these adverse outcomes. Methods This was a retrospective review of associations between first and second trimester serum markers and adverse pregnancy outcomes among 141 698 women who underwent prenatal screening for Down syndrome in Ontario, Canada. Detection rates (DR), false positive rates (FPR), and odds ratios were estimated using both single and combinations of markers for the adverse outcomes defined. Results Women with decreased second trimester unconjugated oestriol (uE3), deceased first trimester maternal serum pregnancy-associated plasma protein A (PAPP-A), increased second trimester serum alpha fetoprotein (AFP), or increased second trimester total human chorionic gonadotrophin (hCG) were at greater risk of developing adverse pregnancy outcomes. At a 5% FPR, combinations of these markers predicted at best 33.3% of fetal loss and 31.5% of preterm births (PTB) before 32 weeks of gestation. Conclusion There are significant associations between the levels of first and second trimester serum markers and adverse obstetric outcomes. However, even combinations of these markers can only predict adverse obstetric outcomes with modest accuracy. Copyright © 2010 John Wiley & Sons, Ltd.

Objectives To evaluate the performance of integrated prenatal screening (IPS) and first trimester combined screening (FTS) for trisomy 21 in a large Canadian urban center. Method Prospective data collection on women having FTS at one center from 1 November 2003 to 31 December 2005, or IPS at another from 1 January 2003 to 31 December 2005. A positive screen was defined as adjusted risk for trisomy 21 ≥ 1/200 at term or nuchal translucency ≥ 3.5 mm. Results 32 227 and 14 487 women were screened in the IPS and FTS programs, respectively. Detection rates (DRs) and positive rates (PRs) for trisomy 21 were 88.4% (95% CI: 81.6–91.5) and 3.3% (95% CI: 3.1–3.5) for IPS, and 83.9% (95% CI: 74.7–93.0) and 4.0% (95% CI: 3.7–4.3) for FTS. DR adjusted for viability bias was 85.2% for IPS and 78.6% for FTS. Applying both the screens to the 78 134 women who submitted prenatal screens in Ontario in 2005, thereby eliminating the effect of differences in the distribution of maternal age between screens, gave a DR (corrected for viability bias) and PR of 81 and 3.1% for IPS, and 76 and 3.4% for FTS. Conclusions Both IPS and FTS perform well and are feasible in a practical clinical setting. Copyright © 2008 John Wiley & Sons, Ltd.

Resume Objectif Fournir une analyse des etudes publiees sur l'utilisation de l'ADN fœtal acellulaire se trouvant dans le plasma maternel aux fins du diagnostic non effractif du syndrome de Down, de la trisomie 18 et de la trisomie 13. Resultats: Des recherches ont ete menees dans PubMed en vue d'en tirer des articles publies entre 2006 et octobre 2012, au moyen de mots cles appropries (p. ex. « non-invasive prenatal diagnosis », « Down syndrome », « cell-free fetal DNA », « aneuploidy screening »). Les resultats ont ete restreints aux analyses systematiques, aux essais comparatifs randomises / essais cliniques comparatifs et aux etudes observationnelles. Les recherches ont ete mises a jour de facon reguliere et integrees a la directive clinique jusqu'au 31 octobre 2012. La litterature grise (non publiee) a ete identifiee par l'intermediaire de recherches menees dans les sites Web d'organismes s'interessant a l'evaluation des technologies dans le domaine de la sante et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et aupres de societes de specialite medicale nationales et internationales. Valeurs Les etudes analysees ont ete classees conformement aux criteres decrits par le Groupe d'etude canadien sur les soins de sante preventifs et les recommandations visant la pratique ont ete evaluees en fonction de cette classification (Tableau).

Spontaneous coronary artery dissection remains a rare but important cause of acute coronary syndromes. Presentation depends on the extent of the dissection, the vessels involved and the rate of its development, and can encompass the entire spectrum of coronary syndromes, with some patients being asymptomatic and others presenting with angina, non-ST segment elevation myocardial infarction, ST-elevation myocardial infarction and sudden cardiac death. The authors describe a 33-year-old pregnant woman who presented with a non-ST segment elevation myocardial infarction secondary to a spontaneous dissection of the left main coronary artery.

Objective To explore the relationship between maternal obesity and shoulder dystocia while controlling for the potential confounding effects of other variables associated with obesity. Methods We performed a case-control study of provincial delivery records audited by the Northern and Central Alberta Perinatal Outreach Program. Risk factors evaluated were selected based on previously published studies. Cases and controls were drawn from 45,877 live singleton cephalic vaginal deliveries weighing more than 2500 g between January 1995 and December 1997. There were 413 cases of shoulder dystocia (0.9% incidence). Controls (n = 845) were randomly chosen from the remainder of the target population to create a 1:2 case/control ratio. Univariate analysis with calculation of odds ratios (ORs) was used to determine which of the chosen risk factors were significantly related to the incidence of shoulder dystocia. Multivariable regression analyses were then used to determine the independently associated variables, and the adjusted ORs were obtained for each relevant risk factor. Results Maternal obesity was not significant as an independent risk factor for shoulder dystocia after adjusting for confounding variables (adjusted OR 0.9; 95% confidence interval [CI] 0.5, 1.6). Fetal macrosomia was the single most powerful predictor. The adjusted ORs were 39.5 (95% CI 19.1, 81.4) for birth weight greater than 4500 g and 9.0 (95% CI 6.5, 12.6) for birth weight between 4000 and 4499 g. Conclusion The strongest predictors of shoulder dystocia are related to fetal macrosomia. For obese nondiabetic women carrying fetuses whose weights are estimated to be within normal limits, there is no increased risk of shoulder dystocia.

Objective: To determine the incidence of maternal cell contamination (MCC) in the open-needle amniocentesis sampling technique compared with the trocar-in-place technique. Methods: A retrospective analysis was conducted on 2,498 mid-trimester amniocenteses performed in two tertiary care centres in Canada. The University of Alberta centre used the open-needle (without the trocar) technique and the University of British Columbia centre used the standard (with the trocar in place) technique. Data were gathered regarding the nature of the amniotic fluid, number of needle passes, amniocentesis results, and the occurrence of maternal cell contamination. The statistical analysis used logistic regression, and controlled for the potential confounders of bloody fluid taps and requirement for more than one needle insertion. Results: The incidence of maternal cell contamination was 1.16% with the open-needle technique and 0.78% with the standard trocar-in-place technique (p Conclusion: The data suggested there is no significant increase in maternal cell contamination with the open-needle versus trocar-in-place techniques of amniocentesis. However, the small sample size, combined with the low prevalence of the outcome of interest (MCC), provides insufficient power to draw firm conclusions about the difference in MCC between the two techniques.

Objective To review the literature with respect to the use of diagnostic ultrasound in the management of twin pregnancies. To make recommendations for the best use of ultrasound in twin pregnancies Outcomes Reduction in perinatal mortality and morbidity and short- and long-term neonatal morbidity in twin pregnancies. Optimization of ultrasound use in twin pregnancies. Evidence Published literature was retrieved through searches of PubMed and the Cochrane Library in 2008 and 2009 using appropriate controlled vocabulary (e. g., twin, ultrasound, cervix, prematurity) and key words (e. g., acardiac, twin, reversed arterial perfusion, twin-to-twin transfusion syndrome, amniotic fluid). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date restrictions. Studies were restricted to those with available English or French abstracts or text. Searches were updated on a regular basis and incorporated into the guideline to September 2009. 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. Values The evidence collected was reviewed by the Diagnostic Imaging Committee of the Society of Obstetricians and Gynaecologists of Canada, with input from members of the Maternal Fetal Medicine Committee and the Genetics Committee of the SOGC. The recommendations were made according to the guidelines developed by The Canadian Task Force on Preventive Health Care (Table 1). Benefits, harms, and costs The benefit expected from this guideline is facilitation and optimization of the use of ultrasound in twin pregnancy.

OBJECTIVE: Although there is general agreement that conception should be avoided when Crohn’s disease is active, many questions remain unanswered for the woman with Crohn’s disease in remission who becomes pregnant. METHODS: Sixty-five charts of women with Crohn’s disease quiescent at the start of pregnancy were identified between January 1993 and December 1997. Each pregnancy was matched to a healthy control pregnancy by date, age, parity, smoking status, and gestational age ± 1 wk, and comparisons were carried out using matched analyses. RESULTS: The two groups were similar in terms of maternal height, weight, and body mass index (BMI), in addition to the matched variables. The incidence of pregnancy complications was similar for most of the complications examined, whereas the incidence of poor maternal weight gain differed significantly between the groups (17/65 vs 2/65, p < 0.001). Flare-up of the Crohn’s disease was seen in 13/65 (20%) of pregnancies. The greatest differences in neonatal outcomes were in terms of birth weight (3150 ± 80 g vs 3500 ± 60 g) and birth weight percentile (36.7% ± 3.6% vs 57.5% ± 3.4%). Overall, there were 16 (24.6%) small for gestational age (SGA) births in the Crohn’s group, compared with only one (1.5%) in the control group (p = 0.0007). Multivariate analysis was performed to identify factors predictive of SGA births in the Crohn’s group. Ileal Crohn’s disease was a statistically significant predictor (p = 0.035), whereas previous bowel resection trended toward statistical significance (p = 0.065). CONCLUSIONS: In view of the risk of low birth weight, all women with Crohn’s disease who become pregnant should be followed carefully during the pregnancy, particularly those who have ileal disease or who have previously undergone bowel resection. Furthermore, smoking cessation needs to be aggressively pursued in these patients.

Objective: The objective was to develop, validate, and recommend a scaling model for a discriminative obstetric outcome measure named the Morbidity Assessment Index for Newborns. The purpose of this tool is to allow comparison of obstetric therapeutic strategies on neonatal morbidity, particularly in the mild to moderate morbidity range. Study Design: A list of 66 check-mark (yes or no) items of readily available clinical and laboratory data from the early neonatal period was compiled by a panel of obstetric and neonatal experts. These data were collected on 411 neonates born at ≥28 weeks' gestation and representing all grades of morbidity. Detailed psychometric testing included dimensionality testing and item analysis with the item response theory. The scores obtained with this new assessment tool were correlated with newborn and maternal disease conditions or events and with other measures of newborn morbidity. Results: The Morbidity Assessment Index for Newborns is easy to apply in prospective or retrospective studies. Detailed psychometric evaluation resulted in modification of the list to 47 items, each item with a relative scale value according to severity of morbidity. The test was demonstrated to be a reliable and generalizable scaled index that performs optimally for the mild to moderate neonatal morbidity range. Conclusion: The Morbidity Assessment Index for Newborns is a validated outcome measurement scale of neonatal morbidity. This new tool may facilitate the conduct of obstetric clinical trials or epidemiologic population-based studies in obstetrics. (Am J Obstet Gynecol 1999;181:701-8.)

The purpose of this case-control study was to determine the relative importance of various predictors of newborn macrosomia, with particular reference to maternal constitutional factors and glucose intolerance of pregnancy. Macrosomia was defined by both absolute birthweightor = 4,000 g and birthweightor = 90th centile for gestational age. One thousand mother/newborn pairs [209 macrosomic (cases) and 791 non-macrosomic newborns (controls)] were recruited. Mothers with pre-gestational diabetes mellitus were excluded. Data on pregnancy and pregnancy variables were collected by review of prenatal, labour, and delivery and newborn assessment records and interview with the mother. Predictors that entered the stepwise multiple regression model in order of significance were: previous history of macrosomia, increasing maternal weight, nonsmoking status, multiparity, male newborn gender, gestational age of 40-42 weeks, North American Aboriginal ethnicity, maternal birthweight4,000 g, maternal height and maternal age17 years. Glucose screen positive/100-g oral glucose tolerance test (GTT) negative status was a significant predictor for macrosomia as defined by birthweight greater than the 90th percentile for gestational age, but not for absolute birthweight over 4,000 g. It was the least significant of all the factors examined. Treated gestational diabetes was not a significant predictor. By multivariate analysis, maternal constitutional factors are more powerful predictors of newborn macrosomia than maternal mild glucose intolerance. Treatment of mothers with GDM may be masking the effect of more pronounced carbohydrate intolerance.

Ninety term breech-presenting singletons with birth weights greater than 2500 g and no congenital anomalies were matched with similar cephalic-presenting infants on gender and mode of delivery ( n =180). Thirteen primitive reflexes were examined at birth, 6 weeks and 3 and 5 months. No significant differences in the intensity of the asymmetrical tonic neck, symmetrical tonic neck, positive support, tonic labyrinthine (prone and supine), segmental rolling (head-on-body and body-on-body), Galant, Moro, upper and lower extremity grasp, lower extremity placing and stepping reflexes were observed between these two groups of infants. Infants delivered vaginally, regardless of presentation, had weaker Moro reflexes at 5 months than infants delivered by cesarean section. The popular notion that precursors to early motor behaviors, such as the placing and stepping reflexes, are determinants of fetal presentation at the end of pregnancy is not supported by these results. Instead, spontaneously generated active whole body movements may be more significant influences of fetal orientation at the time of birth.

Resume Le present document a ete redige pour aider les cliniciens a conseiller leurs patientes au sujet du depistage prenatal et pour les aider a traiter des resultats tant positifs que negatifs de ce depistage.

Objective: Maternal cell contamination (MCC) is rare in cultured amniotic fluid samples, but it poses a serious potential source of prenatal misdiagnosis. Our goal was to determine whether the amniocentesis sampling technique influences the incidence of maternal cell contamination. Study design: A retrospective study was performed on 2,498 amniocentesis results in two tertiary care centers in Canada. The University of Alberta used the open-needle technique, and the University of British Columbia used a technique with the trocar in place. We reviewed midtrimester amniocenteses performed by perinatologists on singleton male fetuses. We excluded all transplacental insertions. Data were gathered regarding the nature of the amniotic fluid, number of needle passes, amniocentesis results, and the occurrence of maternal cell contamination. Results: The incidence of MCC was similar at the two study centers: 1.16% and 0.78% at the University of Alberta and the University of British Columbia, respectively. The odds ratio for MCC with the open versus the trocar-in-place technique with use of logistic regression was 1.48 (95% CI, 0.3–3.3) with a P value less than 0.315, which is not significant. Bloody fluid taps and the number of needle insertions were both controlled for in the statistical analysis. Conclusion: The data indicate that there is no significant increase in maternal cell contamination with the open-needle technique of amniocentesis. We believe that open-needle amniocentesis has advantages for the patient and the physician and that it is a safe and reliable technique for amniocentesis.

diagnosis. The registers provided information about the timing and method of diagnosis. Results: 37 cases of schizencephaly were identified in an estimated 2,568,556 live and stillbirths, giving an overall incidence of 1.48/100,000 births (95% confidence intervals 1.01–1.95/100,000 births). Seventeen of the 37 cases (46%, 95% Confidence Interval 30–62%) were identified antenatally. No affected fetus had abnormal chromosomes identified. There was a high proportion of younger mothers. The average age of mothers was 22.34 years (95% confidence interval 20.4–24.3). 22 of the mothers were aged 24 or less (59%: 95% confidence interval 44–75%). In England and Wales between 1998 and 2008 the average age of mothers of live births was 29.3 years, and 26% occurred to mothers aged 24 or less (P < 0.0001). Only three cases were identified before 21 weeks gestation. Additional anomalies associated with vascular disruption sequences were found in nine cases, one of which had gastroschisis and eight had septo-optic dysplasia or absent septum pellucidum. Conclusions: Schizencephaly occurs more frequently in younger mothers. It is often associated with septo-optic dysplasia, which also occurs more commonly in younger mothers, and the two conditions may share a common origin, arising as a result of vascular disruption affecting the tributaries of the circle of Willis that causes changes which only become apparent on ultrasound in the second half of pregnancy.

Objective: To review outcomes of twin-to-twin syndrome (TTTS) cases and to examine the relationship between gestational age at diagnosis and serial amniocentesis drainage on these outcomes. Methods: Charts were reviewed from a 5-year period. Charts with a diagnosis of TTTS and multiples with discordant growth, polyhydramnios, oligohydramnios, or intrauterine growth restriction were reviewed. Diagnosis of TTTS was confirmed by ultrasound and pathological examination. Cases with placental insufficiency or chromosomal, cardiac, or urinary tract abnormalities were excluded. Outcomes were: survival rates, gestational age at delivery, and birth weight. Results were analyzed using the χ 2 and t tests. Results: Overall survival rate was 71%. Mean gestational age at delivery was 27.8 weeks, and mean birth weight was 1,141 g. If diagnosis was made before 24 weeks of gestation, the survival rate was 50%; if it was made after 24 weeks of gestation, survival was 100%. If drainage was required, survival rate was 56%. If no drainage was required, survival was 100%. Conclusions: TTTS still is associated with significant morbidity and mortality. Other treatments, such as laser ablation, need to be investigated, particularly for the patients who present in the second trimester. Studies of long-term morbidity also are needed.