Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

Background Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosis of fetal anomaly based on a large Chinese cohort. Methods In this cohort study, 1800 pregnant women with singleton fetus in Hubei Province were recruited from 2018 to 2020 for prenatal ultrasonic screening. Those with fetal structural anomalies were transferred to the Maternal and Child Health Hospital of Hubei Province through a referral network in Hubei, China. After multidisciplinary consultation and decision on fetal outcome, products of conception (POC) samples were obtained. Simultaneous CNV-seq and WES was conducted to identify the fetal anomalies that can compress initial DNA and turnaround time of reports. Results In total, 959 couples were finally eligible for the enrollment. A total of 227 trios were identified with a causative alteration (CNV or variant), among which 191 (84.14%) were de novo. Double diagnosis of pathogenic CNVs and variants have been identified in 10 fetuses. The diagnostic yield of multisystem anomalies was significantly higher than single system anomalies (32.28% vs. 22.36%, P = 0.0183). The diagnostic rate of fetuses with consistent intra- and extra-uterine phenotypes (172/684) was significantly higher than the rate of these with inconsistent phenotypes (17/116, P = 0.0130). Conclusions Simultaneous CNV-seq and WES analysis contributed to fetal anomaly diagnosis and played a vital role in elucidating complex anomalies with compound causes.

The electrical heart axis of the fetus between 18 and 24 weeks of gestation: A cohort study

Introduction A fetal anomaly scan in mid-pregnancy is performed, to check for the presence of congenital anomalies, including congenital heart disease (CHD). Unfortunately, 40% of CHD is still missed. The combined use of ultrasound and electrocardiography might boost detection rates. The electrical heart axis is one of the characteristics which can be deduced from an electrocardiogram (ECG). The aim of this study was to determine reference values for the electrical heart axis in healthy fetuses around 20 weeks of gestation. Material and methods Non-invasive fetal electrocardiography was performed subsequent to the fetal anomaly scan in pregnant women carrying a healthy singleton fetus between 18 and 24 weeks of gestation. Eight adhesive electrodes were applied on the maternal abdomen including one ground and one reference electrode, yielding six channels of bipolar electrophysiological measurements. After removal of interferences, a fetal vectorcardiogram was calculated and then corrected for fetal orientation. The orientation of the electrical heart axis was determined from this normalized fetal vectorcardiogram. Descriptive statistics were used on normalized cartesian coordinates to determine the average electrical heart axis in the frontal plane. Furthermore, 90% prediction intervals (PI) for abnormality were calculated. Results Of the 328 fetal ECGs performed, 281 were included in the analysis. The average electrical heart axis in the frontal plane was determined at 122.7° (90% PI: -25.6°; 270.9°). Discussion The average electrical heart axis of healthy fetuses around mid-gestation is oriented to the right, which is, due to the unique fetal circulation, in line with muscle distribution in the fetal heart.

Psychological analysis of women’s experiences of late pregnancy termination for fetal anomaly

AIM: The aim of this study was to conduct a psychological analysis and summarize information on womens experiences of late pregnancy termination for fetal anomaly. MATERIALS AND METHODS: The study included 105 patients aged 19 to 43 years who experienced late pregnancy termination for fetal anomaly after 22 weeks of gestation and who received psychological support during their stay in the maternity hospital. The method of data collection involved structured clinical interview with subsequent analysis and summarizing the information received. The data obtained were compared with the literature, thus leading to a conclusion about long-term psychological consequences after late pregnancy termination. RESULTS: The general psychological patterns of womens experiencing of several consequential steps of late pregnancy termination were revealed: during the primary diagnosis, in the decision-making process, during the feticide procedure, during delivery, and in the postpartum period. The tasks of psychological support were formulated; the types of reasons for termination decision were described; the key influence of the psychological status of the fetus on the subjective character of experience was determined. The analysis of foreign issues was made and faraway traumatic consequences of late pregnancy termination for the woman and her family were depicted. CONCLUSIONS: Late pregnancy termination is a traumatic choice for a woman and her family and it has medical, psychological, ethical and legal contexts. Psychological maintenance can optimize the patients contact with the medical staff during her stay in the maternity hospital. Psychologically conceived experience ensure a constructive attitude towards the future pregnancy and its positive conditions.

Termination of Pregnancy for Fetal Anomaly: A Systematic Review of the Healthcare Experiences and Needs of Parents

BackgroundImproved technology and advances in clinical testing have resulted in increased detection rates of congenital anomalies during pregnancy, resulting in more parents being confronted with the possibility of terminating a pregnancy for this reason. There is a large body of research on the psychological experience and impact of terminating a pregnancy for fetal anomaly. However, there remains a lack of evidence on the holistic healthcare experience of parents in this situation. To develop a comprehensive understanding of the healthcare experience and needs of parents, this systematic review sought to summarise and appraise the literature on parents’ experiences following a termination of pregnancy for fetal anomaly.Review Question:What are the healthcare experiences and needs of parents who undergo a termination of pregnancy following an antenatal diagnosis of a fetal anomaly?MethodsA systematic review was undertaken with searches completed across six multi-disciplinary electronic databases (Medline, Embase, PsycINFO, CINAHL, Web of Science, and Cochrane). Eligible records were qualitative, quantitative or mixed methods studies, published between January 2010 and August 2021, reporting the results of primary data on the healthcare experiences or healthcare needs in relation to termination of pregnancy for fetal anomaly for either or both parents. Findings were synthesised using Thematic Analysis.ResultsA total of 30 records were selected for inclusion in this review of which 24 were qualitative, five quantitative and one mixed-methods. Five overarching themes emerged from the synthesis of findings: (1) Context of Care, (2) Person-centred Care, (3) Compassionate Care, (4) Co-ordinated Care, and (5) Inclusive Care.ConclusionCompassionate healthcare professionals who provide non-judgemental and sensitive care can impact positively on parents’ satisfaction with the care they receive. A well organised and co-ordinated healthcare system is needed to provide an effective and high-quality service.Registration:PROSPERO registration number: CRD42020175970

Sonographic Detection of Congenital Intestinal Malrotation: A Case Report

Intestinal malrotation is a rare fetal anomaly resulting from the failure of midgut rotation and fixation. Sonography is typically the first modality of choice for assessing pediatric pathology due to its high sensitivity, portability, real-time imaging capability, and non-ionizing technique; however, its role in diagnosing small bowel rotational anomalies remains limited and controversial. Fluoroscopic upper gastrointestinal imaging (UGI) is the primary diagnostic examination at most institutions. However, even on UGI, imaging findings may be equivocal. In such cases, sonography may provide additional information at facilities where it is not used as a primary diagnostic tool. This case report represents the first reported case showing how patient position is important as the typical vascular sonographic features of rotation were normal in one position but abnormal in another. In addition, this case shows how congenital intestinal malrotation was decisively diagnosed using sonographic imaging.

Clinical Characteristic of Congenital Fetal Anomaly In Tertiary Referral Hospital in East Java, Indonesia

Background: Congenital fetal anomalies were defined as any structural defect present at birth. Congenital fetal anomalies are an important causes of neonatal morbidity and mortality in developed and developing countries that affect health care system. Reliable data on these congenital anomalies are still lacking, especially in Indonesia. Objective: This study aims to determine the characteristic profile of congenital fetal anomaly in single tertiary hospital in East Java, Indonesia. Methods: Retrospective cross-sectional by using medical record data of dr. Soetomo General Hospital on January – December 2017. Results: There were 58 cases (4,3%) with fetal congenital anomaly from 1360 deliveries in 2017. The majority of cases were referral cases (51 cases; 88%) and only seven cases were booked cases in obstetric outpatient dr. Soetomo General Hospital. Most of these congenital fetal anomaly cases ( 25 cases / 43,1%) were born from mother with ages 20 – 30 years old. Most cases (34 cases; 58,64%) were diagnosed first at third trimester (gestational age > 28 weeks). There were 36 cases (62%) had active termination of pregnancy. Thirty eight percent (22 cases) were born at 37-42 weeks and majority were born section caesaria. The three highest proportion of organ systems involved in fetal congenital anomalies were those of abdomen (22 cases; 37,9%); head (20 cases; 34,5%); thorax and muskuloskeletal (each 12 cases; 20,7%). Conclusion: The incidence of congenital fetal anomaly in dr. Soetomo Hospital at 2017 was 4,3%. Omphalocele and CTEV were two most common types of congenital fetal anomaly found. Most cases of congenital fetal anomalies have a poor prognosis, 67% cases born died. Further research about risk factors and comprehensive database are needed on cases of congenital anomaly to establish appropriate prevention and management.