First-Trimester PlGF and PAPP-A and the Risk of Placenta-Mediated Complications: PREDICTION Prospective Study.

Objectives: This study aimed to estimate the association between low first-trimester maternal serum PlGF (placental growth factor) and PAPP-A (pregnancy-associated plasma protein A) and the risk of placenta-mediated complications.

Methods: We performed a secondary analysis of the PREDICTION study, including nulliparous participants recruited at 11 to 14 weeks of pregnancy. First-trimester PlGF and PAPP-A levels were reported in multiples of the median (MoM) adjusted for maternal characteristics and gestational age.

Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population-based retrospective study in Ontario, Canada.

Introduction: Nuchal translucency prenatal ultrasound is widely used to screen for chromosomal abnormalities. An elevated nuchal translucency has been associated with adverse outcomes such as pregnancy loss; however, extant studies investigating these associations have had important limitations, including selection bias. This study aimed to investigate the association between nuchal translucency measurements and pregnancy outcome, specifically, a composite of pregnancy loss, termination, stillbirth, or neonatal death.

Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada.

Background: Multiple marker screening is offered to pregnant individuals in many jurisdictions to screen for trisomies 21 and 18. On occasion, the result is 'double-positive'-a screening result that is unexpectedly positive for both aneuploidies. Although this occurs rarely, the paucity of available evidence about the outcomes of these pregnancies hinders patient counselling.

Ultrasonographic Fetal Nuchal Translucency Measurements and Cytogenetic Outcomes.

Importance: Ultrasonographic measurement of fetal nuchal translucency is used in prenatal screening for trisomies 21 and 18 and other conditions. A cutoff of 3.5 mm or greater is commonly used to offer follow-up investigations, such as prenatal cell-free DNA (cfDNA) screening or cytogenetic testing.

First and second trimester maternal serum markers for prenatal aneuploidy screening: An update on the adjustment factors for race, smoking, and insulin dependent diabetes mellitus.

Objectives: The concentrations of maternal serum markers for aneuploidy screening are influenced by maternal characteristics such as race, smoking, insulin dependent diabetes mellitus (IDDM), and in vitro fertilization (IVF). Accurate risk estimation requires adjustment of initial values for these characteristics. This study aims to update and validate adjustment factors for race, smoking, and IDDM.

Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies.

Background: Cell-free fetal DNA screening is routinely offered to pregnant individuals to screen for aneuploidies. Although cell-free DNA screening is consistently more accurate than multiple-marker screening, it sometimes fails to yield a result. These test failures and their clinical implications are poorly described in the literature.

Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada.

Background: The emergence of cell-free fetal DNA (cfDNA) testing technology has disrupted the landscape of prenatal screening for trisomies 21 (T21) and 18 (T18). Publicly funded systems around the world are grappling with how to best integrate this more accurate but costly technology, as there is limited evidence about its incremental value in real-world conditions. The objectives of this study were to describe the population-based performance of Ontario's prenatal screening program, which incorporates publicly funded cfDNA screening for specific indications, and the effect of cfDNA testing on the screening and diagnostic choices made by pregnant people.

Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions in Average-Risk Pregnancies: A Cost-Effectiveness Analysis.

Objective: The cost effectiveness of noninvasive prenatal testing (NIPT) has been established for high-risk pregnancies but remains unclear for pregnancies at other risk levels. The aim was to assess the cost effectiveness of NIPT in average-risk pregnancies from the perspective of a provincial public payer in Canada.

Methods: A model was developed to compare traditional prenatal screening (TPS), NIPT as a second-tier test (performed only after a positive TPS result), and NIPT as a first-tier test (performed instead of TPS) for trisomies 21, 18, and 13; sex chromosome aneuploidies; and microdeletions in a hypothetical annual population cohort of average-risk pregnancies (142 000 to 148,000) in Ontario, Canada.

A 2-year review of publicly funded cell-free DNA screening in Ontario: utilization and adherence to funding criteria.

Objective: Ontario offers a publicly funded modified contingent model of prenatal screening for aneuploidy in which cell-free DNA (cfDNA) screening is covered for pregnancies at higher risk of fetal aneuploidy. The objective of this study was to review utilization of provincially funded cfDNA screening and adherence to the criteria laid out in Ontario prenatal screening guidelines.

Methods: This was a descriptive cohort study using data collected by Ontario's prescribed maternal and child registry.

Trends in the use of prenatal testing services for fetal aneuploidy in Ontario: a descriptive study.

Background: In 2014, Ontario augmented its publicly funded multiple-marker screening program for prenatal aneuploidy by incorporating cell-free fetal DNA (cffDNA) analysis for high-risk pregnancies. We assessed trends in the use of multiple-marker screening, cffDNA screening and prenatal diagnostic testing before and after implementation of public funding.

Methods: We conducted a descriptive study based on data from the Better Outcomes Registry & Network (BORN) Ontario.

The Ontario Birth Study: A prospective pregnancy cohort study integrating perinatal research into clinical care.

Background: Pregnancy and early childhood represent critical periods that impact health throughout the life-course. The Ontario Birth Study (OBS) is a pregnancy cohort study designed as a platform for research on pregnancy complications, maternal and infant health, and the developmental origins of health and disease.

Methods: Pregnant women <17 weeks gestational age were recruited between 2013 and 2015 from antenatal clinics at Mount Sinai Hospital, Toronto, Canada.

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.

The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance).

First-trimester placental thickness and the risk of preeclampsia or SGA.

Introduction: Placental thickness in the second trimester of pregnancy has been associated with risks of placenta-mediated complications of pregnancy. We aimed to estimate the association between first-trimester maximum placental thickness and the subsequent risk of preeclampsia and/or the delivery of small-for-gestational-age (SGA) neonate.

Methods: Prospective cohort study of women recruited at 11-14 weeks gestation.

Enhanced First Trimester Screening for Trisomy 21 with Contingent Cell-Free Fetal DNA: A Comparative Performance and Cost Analysis.

Objective: Prenatal screening for trisomy 21 is a standard of care. Emerging cell-free fetal DNA (cffDNA) technologies can improve screening performance, but they are expensive. This study was conducted to propose a contingent screening model that would incorporate cffDNA technology, would remain affordable, and could be applied equitably in a publically funded system.

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.

Pregnancy outcomes in women with polycystic ovary syndrome undergoing in vitro fertilization.

Objective: To determine whether the diagnosis of polycystic ovary syndrome (PCOS) independently predicts increased rates of pregnancy complications relative to control subjects, after adjusting for important confounders.

Design: Retrospective cohort.

Setting: Not applicable.

Antepartum Screening for Maternal Infection and Immune Status: Is it Time to Broaden Our Routine?

Maternal infections with PVB19, HCV, CMV, and HIV during the antepartum period are important health problems for which the technological capacities for screening and diagnosis during the antepartum period are available. Each of these viruses requires individual consideration for inclusion in screening and for the method of screening during the antepartum period. The availability of efficacious treatments for HCV and CMV, with demonstrable benefits to the mother or fetus, is required before antepartum screening for these infections can be justified.

Emergency cerclage: literature review.

Unlabelled: This article reviews the use and effectiveness of emergency cerclage for women who present with a dilated cervix in the second trimester of pregnancy and seeks to identify predictors of favorable emergency cerclage outcomes. We searched PubMed and the Cochrane Library for the period January 1995 to April 2012 and used the terms "emergency cerclage," "emergency stitch," "rescue cerclage," and "rescue stitch." Thirty-four studies in which transvaginal emergency cervical cerclage was performed in women with a dilated cervix were identified and included.

The impact of maternal weight discrepancies on prenatal screening results for Down syndrome.

Objective: This study aimed to assess the quantitative impact of maternal weight discrepancy on the screen result for Down syndrome when using Integrated Prenatal Screening and First Trimester Combined Screening.

Methods: The study population consisted of 78,165 women undergoing prenatal screening in Ontario, Canada, and 158 pregnancies affected with Down syndrome at one Ontario center. The study assessed quantitative alterations of the multiple of the median values of first and second-trimester serum markers and the risks of Down syndrome at a set of theoretical weight discrepancies.