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The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). This was a systematic review conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta‐Analyses guidelines. Selected studies included those with (a) only fetuses with FGR in the absence of fetal structural anomalies and (b) negative CMA or karyotyping results. Only positive variants classified as likely pathogenic or pathogenic determined as causative of the fetal phenotype were considered. A negative CMA or karyotype result was treated as the reference standard. Eight studies with data on ES diagnostic yield, including 146 fetuses with isolated FGR, were identified. Overall, a pathogenic variant determined as potentially causative of the fetal phenotype was found in 17 cases, resulting in a 12% (95% CI: 7%–18%) incremental performance pool of ES. The vast majority were studied before 32 weeks'gestation. In conclusion, a monogenic disorder was prenatally found in association with apparently isolated FGR in 12% of these fetuses. Key points: What is already known about this topic?Chromosomal microarray analysis has been increasingly offered in early severe fetal growth restriction (FGR), resulting in a 5%–10% incremental diagnostic above the karyotype but advanced genetic testing is scarce and may result in an underestimation of the real prevalence of monogenic diseases in this population. What does this study add?Our study provides the first systematic review and meta‐analysis of the existing evidence on the diagnostic yield of exome sequencing in fetuses with isolated FGR.It revealed that next‐generation sequencing analysis provides a 12% incremental yield in fetuses with isolated FGR and normal chromosome analysis. [ABSTRACT FROM AUTHOR]

Objective: This study aims to predict perinatal death or severe sequelae in isolated small‐for‐gestational‐age fetuses, diagnosed at a periviable gestational age, based on ultrasound and Doppler parameters at diagnosis. Design: Observational study. Setting: A tertiary perinatal centre. Population A cohort of singleton non‐malformed fetuses suspected to be small for gestational age (estimated fetal weight, EFW, <10th centile) diagnosed at 22.0–25.6 weeks of gestation. The following parameters were recorded at diagnosis: severe smallness (<3rd centile); absent or reversed end‐diastolic velocity in umbilical artery; abnormal middle cerebral artery Doppler; abnormal cerebroplacental ratio; abnormal uterine artery Doppler; and absent or reversed end‐diastolic velocity in the ductus venosus. Methods: Logistic regression analysis. Main outcome measures: Predictive performance of EFW and Doppler parameters for short‐term adverse outcome of perinatal morbimortality and composite serious adverse outcomes (death, neurological impairment or severe bronchopulmonary dysplasia). Results: A total of 155 pregnancies were included. There were 13 (8.4%) intrauterine and 11 (7.7%) neonatal deaths. A short‐term adverse perinatal outcome occurred in 40 (25.8%) pregnancies. There were 31 (20%) cases of serious adverse outcomes. For the prediction of serious adverse outcomes, the combination of absent or reversed end‐diastolic velocity in the umbilical artery and impaired middle cerebral artery detected by Doppler evaluation achieved a detection rate of 87%, with a false‐positive rate of 14% (accuracy 86%). Conclusion: In periviable isolated small‐for‐gestational‐age fetuses, a Doppler evaluation of the umbilical and fetal brain circulation can accurately predict short‐term adverse perinatal complications and serious adverse outcomes. This article includes Author Insights, a video abstract available at: https://vimeo.com/bjogabstracts/authorinsights17181 [ABSTRACT FROM AUTHOR]

Aims: Persistence of lipoprotein abnormalities in type 1 diabetes (T1D) and/or pre‐eclampsia could be associated with cardiovascular disease (CVD). We assessed differences in the advanced lipoprotein profiles according to the presence of both conditions and their differential association with atherosclerosis. Material and methods: We recruited 112 women without CVD and last pregnancy ≥5 years previously, divided into four groups (n = 28 per group): (a) T1D and previous pre‐eclampsia; (b) T1D without pre‐eclampsia; (c) pre‐eclampsia without T1D; and (d) controls (without T1D/pre‐eclampsia). Groups were matched by several risk factors, and diabetes duration and retinopathy in T1D. Carotid intima‐media thickness (IMT) and the presence of plaque (IMT ≥1.5 mm) were assessed by ultrasonography. The lipoprotein profile was evaluated by nuclear magnetic resonance (NMR) spectroscopy. Results: The participants were 44.9 ± 7.8 years old. Carotid plaque presence was 20.5%, with a higher prevalence in T1D and/or pre‐eclampsia vs controls (P <.05). High‐density lipoprotein (HDL)‐related variables differed among groups, mainly driven by an increase in T1D (P <.05), whereas triglyceride‐related variables were increased in pre‐eclampsia [medium very low‐density lipoprotein (VLDL) particles and triglyceride enrichment in HDL and low‐density lipoprotein (LDL)]. Overall, in multivariate‐adjusted models, LDL‐related variables were the most strongly associated with atherosclerosis (P <.05). In age‐ and statin‐adjusted models, previous pre‐eclampsia showed an independent association with triglyceride‐related variables (plaque: medium‐VLDL‐particles, OR 1.550 [1.013‐2.374]; HDL‐cholesterol/HDL‐triglycerides ratio, OR 0.411 [0.175‐0.967]). Regarding T1D, HDL‐parameters were also differentially associated (maximum‐IMT: HDL‐cholesterol/HDL‐particles ratio, β = −.258, P =.036). Conclusions: NMR lipoproteins were differentially and independently associated with atherosclerosis in T1D/pre‐eclampsia. Further studies are needed to ascertain the role of NMR parameters as CVD biomarkers in this high‐risk population. [ABSTRACT FROM AUTHOR]

The coronavirus disease 2019 (COVID-19) pandemic has represented a major impact to health systems and societies worldwide. The generation of knowledge about the disease has occurred almost as fast as its global expansion. The mother and fetus do not seem to be at particularly high risk. Nevertheless, obstetrics and maternal-fetal medicine practice have suffered profound changes to adapt to the pandemic. In addition, there are aspects specific to COVID-19 and gestation that should be known by specialists in order to correctly diagnose the disease, classify the severity, distinguish specific signs of COVID-19 from those of obstetric complications, and take the most appropriate management decisions. In this review we present in a highly concise manner an evidence-based protocol for the management of COVID-19 in pregnancy. We briefly contemplate all relevant aspects that we believe a specialist in obstetrics and maternal medicine should know, ranging from basic concepts about the disease and protection measures in the obstetric setting to more specific aspects related to maternal-fetal management and childbirth. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate different strategies for the prediction of late preeclampsia. Methods: A retrospective study was undertaken. A predictive model including maternal parameters (maternal age, maternal BMI, maternal history of preeclampsia or intrauterine growth restriction (PE/IUGR) or maternal chronic disease, and maternal arterial pressure) and mean pulsatility index (PI) of uterine Doppler was created. It was evaluated as an independent model in each trimester, considering 11–13.6 weeks, 20–22.6 weeks and 32–33.6 weeks consequently, and as an integrated model. Results: In the group of late preeclampsia, patients were more obese and had higher incidence of chronic hypertension. Uterine artery pulsatility index (UtA PI) and mean blood pressure were increased in all three trimesters. When evaluating all three models independently, third trimester model performed better than the other two with a sensitivity of 79% and specificity of 82%. The area under the receiver-operating characteristic (ROC) curve (AUC) was 0.86. The integration of all three determinations did not improve third trimester's model. Conclusion: Prediction of late preeclampsia at third trimester seems to be possible if maternal characteristics, blood pressure and UtA Doppler are included. [ABSTRACT FROM AUTHOR]

Background: Little information is available about the risk of microdeletion and microduplication syndromes in fetal growth restriction (FGR) with a normal karyotype.Objective: To assess the incremental yield of genomic microarray over conventional karyotyping in fetuses with early growth restriction.Study Design: Genomic microarray was prospectively performed in fetuses with early growth restriction defined as a fetal weight below the 3rd percentile estimated before 32 weeks of pregnancy, and a normal quantitative fluorescent polymerase chain reaction result. The incremental yield of genomic microarray was defined by the rate of fetuses presenting with a pathogenic copy number variant below 10 Mb.Results: Among 133 fetuses with early FGR, a 6.8% (95% CI: 2.5-11.0) incremental yield of genomic microarray over karyotyping was observed. This incremental yield was 4.8% (95% CI: 0.2-9.3) in isolated FGR, 10% (95% CI: 0-20.7) in FGR with nonstructural anomalies, and 10.5% (95% CI: 0-24.3) in FGR with structural anomalies.Conclusion: Our multicenter study reveals that 6.8% of fetuses with early growth restriction present with submicroscopic anomalies after common aneuploidies were excluded. Even when FGR is observed as an isolated finding, genomic microarray analysis should be considered after or instead of karyotyping, due to its 4.8% incremental yield. [ABSTRACT FROM AUTHOR]