Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

Congenital myopathies are a genetically heterogeneous group of neuromuscular disorders that commonly present with congenital hypotonia and weakness but can also present broadly. The most severe presentation is neonatal with arthrogryposis and, rarely, fetal akinesia and pterygia, features also seen in lethal multiple pterygium syndrome (LMPS). We describe two fetuses with similar phenotype, including hydrops fetalis, large cystic hygromas, bilateral talipes, and fetal akinesia in the second trimester.

The Implementation of Preeclampsia Screening and Prevention (IMPRESS) Study.

Background: Preeclampsia affects between 2% and 5% of pregnancies and is one of the leading causes of perinatal morbidity and mortality worldwide. Despite strong evidence that the combination of systematic preeclampsia screening based on the Fetal Medicine Foundation preeclampsia risk calculation algorithm with treatment of high-risk patients with low-dose aspirin reduces the incidence of preterm preeclampsia more than currently used risk-factor-based screening, real-world implementation studies have not yet been done in Canada.

Objective: This study aimed to assess the operational feasibility of implementing first-trimester screening and prevention of preterm preeclampsia (<37 weeks) alongside a publicly funded first-trimester combined screening program for aneuploidies.

Confirmation Testing of Essure Microinserts in Unintended Pregnancies Using a 10-Year Retrospective Database.

Study Objectives: To examine the imaging modality used in cases of Essure failures and determine the cause of the unintended pregnancies (noncompliance to follow-up recommendations, misinterpretation of the imaging test, or device failure).

Design: Retrospective, single-center interventional cohort (Canadian Task Force classification II-2).

Setting: Tertiary level hospital.

Essure microinsert imaging: does abnormal shape on ultrasound predict complications on HSG?

Objective: We hypothesize that the shape of the Essure microinsert on ultrasound is able to predict complications evident on hysterosalpingogram (HSG), the accepted gold standard.

Method And Materials: From July 2, 2009 to July 2, 2012, 441 women at our institution received Essure microinsert placement for the purpose of permanent sterilization. 2D and 3D coronal plane transvaginal ultrasounds were performed three months after Essure microinsert placement.

Outcomes in the ultrasound follow-up of the Essure micro-insert: complications and proper placement.

Objective: To review the use of three-dimensional ultrasound follow-up of the Essure micro-insert placement at three months for the identification of misplaced coils and complications.

Methods: We conducted a retrospective cohort study of reproductive age women requesting permanent sterilization in a tertiary care ambulatory women's clinic. Women who underwent placement of the Essure micro-insert were assessed for appropriate positioning of the Essure micro-insert coil using three-dimensional ultrasound as well as hysterosalpingography when indicated.

Postmortem computed tomography in a case of Apert Syndrome: correlation with conventional autopsy and prenatal ultrasound.

Background: There have been very few small studies or case reports in the literature considering noninvasive postmortem imaging as supplement to autopsy, especially in fetuses with skeletal dysplasias. Apert syndrome accounts for 4.5% of all patients with craniosynostotic syndromes.

Confirmation of Essure microinsert tubal coil placement with conventional and volume-contrast imaging three-dimensional ultrasound.

Objective: To determine the accuracy of ultrasound in the assessment of proximal fallopian tube positioning of the Essure microinsert coil 3 months after postprocedure.

Design: Prospective cohort study (Canadian Task Force classification II-2).

Setting: Reproductive-age women in a tertiary care hospital.