Current methods employed for the diagnosis of PE are inadequate. Risk stratification using the MWS may allow safe exclusion of PE before resorting to CTPA. To the best of our knowledge this is the first study to have used the MWS in a pregnant patient group.
OBJECTIVE: To (a) evaluate the proportion of women where a unifying genetic diagnosis was obtained following assessment of an observed pattern of fetal anomalies and (b) assess trends in genetic testing in a joint fetal-medicine genetic clinic.
METHOD:Retrospective cohort study of all women attending the clinic. Outcomes included (a) indication for referral, (b) genetic test performed and (c) diagnoses obtained. RESULTS: From 2008 to 2019, 256 patients were referred and reviewed, of which 23% (n = 59) were consanguineous. The main indication for referral was the observed pattern of fetal anomalies. Over 10 years, the number of patients reviewed increased from 11 to 35 per annum. A unifying genetic diagnosis was obtained in 43.2% (n = 79/183), the majority of which were diagnosed prenatally (50.6% [n = 40/79]). The main investigation(s) that was the ultimate diagnostic test was targeted gene panel sequencing 34.2% (n = 27/79), with this and exome sequencing becoming the dominant genetic test by 2019. Pregnancies reviewed due to an abnormal karyotype or microarray decreased as an indication for referral during the study period (21.6% [n = 16/74] 2008-2012 vs 16.5% [n = 30/182] in 2012-2019).CONCLUSION: A prenatal genetic clinic with a structured multi-disciplinary team approach may be successful in obtaining a unifying prenatal genetic diagnosis.
Introduction: The objective of this investigation was to study fetal thigh volume throughout gestation and explore its correlation with birth weight and neonatal body composition. This novel technique may improve birth weight prediction and lead to improved detection rates for fetal growth restriction. Materials and Methods: Fractional thigh volume (TVol) using 3D ultrasound, fetal biometry and soft tissue thickness were studied longitudinally in 42 mother-infant pairs. The percentages of neonatal body fat, fat mass and fat-free mass were determined using air displacement plethysmography. Correlation and linear regression analyses were performed. Results: Linear regression analysis showed an association between TVol and birth weight. TVol at 33 weeks was also associated with neonatal fat-free mass. There was no correlation between TVol and neonatal fat mass. Abdominal circumference, estimated fetal weight (EFW) and EFW centile showed consistent correlations with birth weight. Thigh volume demonstrated an additional independent contribution to birth weight prediction when added to the EFW centile from the 38-week scan (p = 0.03). Conclusion: Fractional TVol performed at 33 weeks gestation is correlated with birth weight and neonatal lean body mass. This screening test may highlight those at risk of fetal growth restriction or macrosomia.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.