Obstetrical Ultrasound During Pregnancy

No relevant evidence was identified comparing the safety of frequent obstetrical ultrasounds compared to the routine use of obstetrical ultrasound during pregnancy. This review identified 10 evidence-based guidelines that provided recommendations regarding various indications for obstetrical ultrasound, as well as the frequency of obstetrical ultrasound; however, the methodological rigour of these guidelines is limited and recommendations should be interpreted with caution. One guideline recommended against obstetrical ultrasound for non-medical purposes and recommended that ultrasound exposure be as low as reasonably possible during pregnancy. These recommendations were based on moderate-quality evidence and expert opinion, and should be interpreted with caution. The guidelines made recommendations for specific patient populations for whom more frequent obstetrical ultrasound examinations may be required. These populations included pregnancies affected by certain congenital infections, people pregnant with twins, pregnant adolescents, and pregnant people at high risk for fetal anomalies or for whom mid-trimester transabdominal ultrasound would be challenging.

Detection of Fetal Anomalies by Remotely Directed and Interpreted Ultrasound (Teleultrasound): A Randomized Noninferiority Trial

Objective To determine the accuracy and reliability of remotely directed and interpreted ultrasound (teleultrasound) as compared with standard in-person ultrasound for the detection of fetal anomalies, and to determine participants' satisfaction with teleultrasound. Study Design This was a single-center, randomized (1:1) noninferiority study. Individuals referred to the maternal–fetal medicine (MFM) ultrasound clinic were randomized to standard in-person ultrasound and counseling or teleultrasound and telemedicine counseling. The primary outcome was major fetal anomaly detection rate (sensitivity). All ultrasounds were performed by registered diagnostic medical sonographers and interpretations were done by a group of five MFM physicians. After teleultrasound was completed, the teleultrasound patients filled out a satisfaction survey using a Likert scale. Newborn data were obtained from the newborn record and statewide birth defect databases. Results Of 300 individuals randomized in each group, 294 were analyzed in the remotely interpreted teleultrasound group and 291 were analyzed in the in-person ultrasound group. The sensitivity of sonographic detection of 28 anomalies was 82.14% in the control group and of 20 anomalies in the telemedicine group, it was 85.0%. The observed difference in sensitivity was 0.0286, much smaller than the proposed noninferiority limit of 0.05. Specificity, negative predictive value, positive predictive value, and accuracy were more than 94% for both groups. Patient satisfaction was more than 95% on all measures, and there were no significant differences in patient satisfaction based on maternal characteristics. Conclusion Teleultrasound is not inferior to standard in-person ultrasound for the detection of fetal anomalies. Teleultrasound was uniformly well received by patients, regardless of demographics. These key findings support the continued expansion of telemedicine services. Key Points

A retrospective analysis of mid trimester termination of pregnancies for fetal congenital malformations at tertiary care hospital

Background: This study was conducted to analyse the spectrum of fetal anomalies as a cause of pregnancy termination in a tertiary care hospital.Methods: This retrospective study includes antenatal women with fetal anomalies diagnosed by an ultrasound (USG) and admitted in Chettinad Hospital and Research Institute, Kelambakkam from January 2018 to January 2020 for termination of pregnancy. Data was collected from hospital records and analysed.Results: Gestational age of women with fetal congenital anomalies ranged from 13 to 21 weeks. Pregnancy termination, was performed between 17-19 weeks of gestation in 41% of patients, between 13-15 weeks and 19-21 weeks in 23% of women respectively. Congenital fetal anomalies resulting in termination of pregnancy were CNS, musculoskeletal, cardiovascular, renal and multiple anomalies. CNS abnormalities was a major cause of termination of pregnancy which includes meningomyelocele, spina bifida, acrania, anencephaly.Conclusions: In our study conducted at our tertiary care center, CNS abnormalities were the major cause of mid trimester termination of pregnancies, followed by musculoskeletal abnormalities being second most common cause.

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

Purpose and scopeThe aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic testing of the fetus during pregnancy. This statement was developed to facilitate clinical translation of GWS as a prenatal diagnostic test and the development of best practices in Canada, but the applicability of this document is broader and aims to help professionals in other healthcare systems.Methods of statement developmentA multidisciplinary group was assembled to review existing literature on fetal GWS for genetic diagnosis in the context of suspected monogenic diseases and to make recommendations relevant to the Canadian context. The statement was circulated for comments to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors on 19 February 2021.Results and conclusionsThe use of prenatal GWS is indicated for the investigation of multiple fetal anomalies. Its use in the context of isolated fetal anomaly should be guided by available resources and current evidence, which is continually changing. During pregnancy, GWS should be ordered by, or in collaboration with, a medical geneticist. It should be used following detailed phenotyping to interrogate known disease genes, preferably using a trio approach, following detailed fetal phenotyping. Testing should be done with an overall aim to help in the management of the pregnancy, delivery and postnatal care. It should be guided by personal utility of the test for the pregnant person and clinical utility for pregnancy and birth management, as outlined herein. Genetic counselling is crucial in making the parental decision an informed decision. Chromosomal microarray analysis should be completed in parallel or prior to GWS and should be preceded by Quantitative Fluorescent PCR (QF-PCR) for detection of common aneuploidies. In normal circumstances, only pathogenic and likely pathogenic variants with a high likelihood of being associated with the identified fetal anomalies should be reported. Reporting of secondary findings, defined as purposeful analysis of variants in a set of medically actionable genes, should not, by default, be performed in the prenatal context. Laboratories should only report incidental findings that reveal risk of a significant Mendelian condition during infancy and childhood. Should a laboratory have a policy for reporting incidental findings in medically actionable adult-onset conditions, they should only be reported with explicit opt-in consent signed by the tested individuals. Genetic counselling is crucial in disclosing the test results and the implications the results may have for the fetus. It should be emphasised that negative results do not rule out a genetic diagnosis nor guarantee a good prognosis. Postnatal phenotyping and reanalysis of existing data should be considered. Families should be given the opportunity to participate in research studies as appropriate. These recommendations will be routinely re-evaluated as knowledge of the diagnostic and clinical utility of fetal GWS during pregnancy improves.

Fetal Congenital Anomalies in Africa: Diagnostic and Management Challenges

There is paucity of knowledge on the causes, diagnosis, management and prevention of fetal congenital anomalies in Africa. The chapter will highlight on the general causes and specific factors concerning congenital anomalies in Africa. The problems of diagnosis and management of congenital anomalies will be extensively discussed. There is also going to be a discussion on how fetal anomalies contribute to maternal and perinatal mortality and morbidity. Screening of congenital anomalies is another black point and will be discussed emphasizing on simple strategies applicable in resource constrained environment. A section will be dedicated on prevention of fetal congenital anomalies, particularly prevention of specific factors that increase the risk of fetal anomalies in Africa. Finally, there will also be discussion on collaborative care as a panacea in the management of fetal congenital fetal anomalies, including my experience in this area. Specific examples will be given to illustrate the utility of collaborative in resource limited countries.