A quality improvement intervention to optimize the management of severe hypertension during pregnancy and postpartum.

Objective: Severe hypertension (two systolic blood pressure [BP] values ≥ 160 mm Hg or diastolic BP values ≥ 110 mm Hg, 15-60 min apart) is a modifiable cause of maternal morbidity and mortality. We aimed to assess the impact of a quality improvement (QI) intervention to optimize the management of severe hypertension during pregnancy and postpartum.

Study Design: We developed and implemented a QI intervention for severe hypertension management at a Canadian tertiary care center and conducted a quasi-experimental pre- and post-intervention cohort study.

Indications for Transfer and Care Pathways of Inuit Transferred to a Tertiary Centre for Childbirth in Québec, Canada: A Chart Review 2015-2019.

Objectives: Childbirth evacuation, the transfer of patients from rural and remote communities to urban centres for pregnancy care or childbirth, can be associated with numerous adverse health outcomes and contributes to widening health disparities between Inuit and non-Indigenous populations in Québec. We examined the indications and outcomes of childbirth evacuations among Inuit from Nunavik, Northern Québec transferred to a southern tertiary care centre.

Methods: A 5-year retrospective chart review included 677 pregnancies of 597 Inuit with obstetric indications transferred to a tertiary care centre between 2015 and 2019.

Exploring pregnant individuals' counseling needs regarding urgent imaging to rule out pulmonary embolism.

Background: Computed tomography pulmonary angiogram and lung scintigraphy with ventilation/perfusion scan are needed to diagnose pulmonary embolism (PE) in pregnancy. Their associated ionizing radiation doses are considered safe in pregnancy. A standardized patient information tool may improve patient counseling and reduce testing hesitancy.

Identifying Targets to Improve the Management of Severe Hypertension in Pregnancy and Postpartum.

Objectives: To (1) define quality indicators, (2) describe care gaps, and (3) identify process issues in severe hypertension (sustained systolic blood pressure [BP] ≥160 mm Hg or diastolic BP ≥110 mm Hg) management at our tertiary care centre.

Methods: Pregnant and postpartum persons diagnosed with a hypertensive disorder of pregnancy from 2018 to 2019 were identified. A retrospective cohort of patients with severe hypertension was constructed, and data were collected through chart review.

The multidisciplinary management of a mechanical mitral valve thrombosis in pregnancy: a case report and review of the literature.

Background: The management of anticoagulation for mechanical heart valves during pregnancy poses a unique challenge. Mechanical valve thrombosis is a devastating complication for which surgery is often the treatment of choice. However, cardiac surgery for prosthetic valve dysfunction in pregnant patients confers a high risk of maternofetal morbidity and mortality.

A novel biallelic loss-of-function variant in causes heterotaxy syndrome.

The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in , a nodal inhibitor, which functions in early development for establishment of right-left patterning, has been implicated in heterotaxy. Recently, the first case was reported of a biallelic loss-of-function (LoF) variant in an individual with heterotaxy.

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Background And Aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD in a subset of patients with a unique clinical presentation.

Thrombotic Microangiopathy in a Pregnant Woman With Kidney Transplantation: A Case Report.

Background: The differential diagnosis of thrombotic microangiopathy (TMA) in pregnancy includes common conditions, such as preeclampsia. In women with kidney transplantation, additional causes of TMA must be considered.

Case: A 22-year-old primigravid woman with a transplanted kidney presented with fetal growth restriction, hypertension, acute kidney injury, and hemolysis at 28 weeks gestation.

Ludwig's Angina in Pregnancy: A Case Report.

Background: Physiologic changes in pregnancy may predispose pregnant women to oral health problems. However, most women are not counselled on oral health during pregnancy. Lack of proper oral health care predisposes pregnant women to odontogenic infections, which can lead to severe complications.

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Background: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected prenatal cases, its value in routine clinical settings has not been prospectively assessed in a large unselected cohort of fetuses with structural anomalies. We therefore aimed to determine the incremental diagnostic yield (ie, the added value) of WES following uninformative results of standard investigations with karyotype testing and chromosomal microarray in an unselected cohort of sequential pregnancies showing fetal structural anomalies.

Fetal Exome Sequencing on the Horizon.

Prenatal whole exome sequencing has recently been introduced. It is evolving and although not currently ready for everyday clinical practice, it will likely become part of the diagnostic arsenal available to clinicians caring for couples carrying a pregnancy for which fetal anomalies have been identified. This commentary discusses what it is, its indications, its benefits, and its limitations.

Laboratory considerations for prenatal genetic testing.

New genetic tests have rapidly entered clinical care with little consistency in laboratory testing and reporting. Non-invasive prenatal screening using cell free DNA (cfDNA) may either screen for common aneuploidies alone or include chromosomal microdeletions. All cfDNA screening tests have false positives and false negatives, and accordingly laboratories should report positive and negative predictive values.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype.

Parental perceptions of prenatal whole exome sequencing (PPPWES) study.

Objective: The objective of the study is to investigate the experiences of couples who underwent prenatal whole-exome sequencing (WES) for fetal anomalies and the amount/type of information couples want from prenatal WES.

Method: Participants in the Fetal Sequencing Study who had genetic testing for fetal anomalies were invited for a semistructured interview about their experience with prenatal WES. A constructivist grounded theory approach with an inductive coding style was used for coding and analysis.

Promises, pitfalls and practicalities of prenatal whole exome sequencing.

Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts.

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Mitochondrial DNA (mtDNA) depletion syndrome manifests as diverse early-onset diseases that affect skeletal muscle, brain and liver function. Mutations in several nuclear DNA-encoded genes cause mtDNA depletion. We report on a patient, a 3-month-old boy who presented with hepatic failure, and was found to have severe mtDNA depletion in liver and muscle.

Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications.

Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of microdeletions, microduplications, and other copy number variants; as well as the importance of genetic counseling for prenatal diagnosis. It also discusses the current status of noninvasive screening for some of these microdeletion and microduplication syndromes.

Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold?

Prenatal screening and diagnosis is currently focused on the development of a noninvasive prenatal diagnostic test capable of detecting abnormalities similar to those attainable with an invasive test. One contender is cell-free fetal DNA circulating in maternal plasma and the other is intact fetal cells either from the maternal blood or the cervix. Once adequate fetal DNA is available, laboratory analytic techniques, such as sequencing and microarray, can be applied allowing detection of most cytogenetic and Mendelian fetal disorders.

Comparison of the aetiology of stillbirth over five decades in a single centre: a retrospective study.

Objective: To compare the rates and aetiologies of stillbirth over the past 50 years.

Study Design: We reviewed all autopsy reports for stillbirths occurring between 1989 and 2009 at the McGill University Health Centre to determine the pathological aetiology of stillbirths. We also reviewed maternal characteristics.

Vulvar carcinosarcoma secondary to radiotherapy: a case report and review of the literature.

Background: Carcinosarcomas, a malignancy consisting of squamous cell carcinoma with sarcomatous features, are extremely rare and aggressive tumor of the vulva. Including this case, there are 17 cases reported in the literature. Risk factors for this entity are poorly understood.

Are endometrial polyps true cancer precursors?

Objective: The purpose of this study was to assess whether endometrial polyps (EMPs) represent cancer precursors.

Study Design: Age standardized incidence ratios (SIRs) of histologically verified endometrial cancers (EmCas) were estimated in women with EMPs and in women with uterine leiomyomata, which is a condition that is unrelated to endometrial carcinogenesis. SIRs were calculated as the ratio of observed to expected EmCas based on age-specific incidence rates for female Montreal residents during the same period.