The Left Outflow Tract in Fetal Cardiac Screening Examination: Introduction of Quality Criteria Is Not Always Associated With an Improvement of Practice When Supervised by Humans.

OBJECTIVES: Since 2016, the French CNEOF included the left ventricular outflow tract (LVOT) in the second and third trimester of pregnancy in addition to the four-chamber view and the parasagittal view of the right outflow tract. The objective of this study was to define quality criteria for fetal LVOT assessment and to perform a human audit of past and current practices, before and after the implementation of those quality criteria at a large scale. METHODS: Seven quality criteria were investigated and rated from 0 to 1 during three periods of interest. Files were randomly selected from three centers, and average total and specific scores were calculated. RESULTS: LVOT pictures were present in more than 94.3% of reports. The average quality score was 5.49/7 (95% confidence interval [CI]: 5.36-5.62), 5.91/7 (95% CI: 5.80-6.03), and 5.70/7 (95% CI: 5.58-5.82) for the three centers in the three periods of interest. There was no significant difference following the introduction of the quality criteria, 2017 versus 2020, P = .054. CONCLUSION: Fetal LVOT images were present in most of ultrasound reports but the introduction of the proposed quality criteria under human supervision seems not associated with a significant change in practice.

Prenatal Assessment of Atypical Adrenal Glands: A Systematic Approach for Diagnosis.

The aim of this study was to identify specific unusual prenatal ultrasound (US) patterns of the adrenal gland and to propose a systematic approach for diagnosis. Six fetuses with unusual aspects of one or both adrenal glands, detected during routine prenatal US screening, were evaluated. Prenatal and postnatal management are described. A checklist of US features was created to perform a detailed analysis of adrenal lesions and guide prenatal management; this includes the time of appearance, location, growth, vascularization, structure, and presence of findings suggestive of malignancy.

Managing pain and anxiety during transabdominal chorionic villus sampling. A noninferiority randomized trial of nitrous oxide vs local anesthesia.

INTRODUCTION: Transabdominal chorionic villus sampling (CVS) is an invasive procedure for prenatal diagnosis reported to be associated with anxiety and pain. In this context, the need for analgesia during CVS has been considered useful. Even though several authors have been interested in pain management during amniocentesis, no study has been published on pain reduction during CVS. Our objective was to evaluate pain and anxiety management during transabdominal CVS using nitrous oxide (N2 O) and local anesthesia. MATERIAL AND METHODS: In a randomized controlled noninferiority trial, self-administered nitrous oxide (N2 O) inhalation (equimolar premix of oxygen and nitrous oxide) was compared with local anesthesia (1% lidocaine) before CVS. Primary outcome was pain and secondary outcome was anxiety, both measured on a visual analog scale 30-60 minutes before, immediately after (5-10 minutes) and 30-60 minutes after CVS. With a statistical power of 90%, type I error of 5% and two-sided test and potential exclusions, a sample size of 96 patients per group was enrolled and randomized. No patient was enrolled before the trial registration date. RESULTS: From 13 March 2013 through 10 February 2015, 192 patients (96 per group) were screened and randomized. Most characteristics were similar across groups. Pain in the N2 O group was 2.65 ± 0.22 vs 3.32 ± 0.26 in local anesthesia group [mean ± standard error of mean  (SEM)]. Mean anxiety in the N2 O group was 3.17 ± 0.27 vs 5.19 ± 0.30 in the local anesthesia group. CONCLUSION: N2 O was as efficient and even superior to local anesthesia for both pain and anxiety reduction during CVS, as the 95% confidence intervals were both below the prespecified noninferiority margin of 0.8 and below zero.

Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study.

PURPOSE: Cell-free DNA (cfDNA) as a primary screening test has been available for years but few studies have addressed this option in a prospective manner. The question is of interest after reports that maternal serum screening (MSS) is less accurate for pregnancies resulting from assisted reproduction technologies (ART) than for spontaneous pregnancies (SP). METHODS: A prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing. The primary analysis cohort ultimately included 794 patients with a spontaneous pregnancy (SP) (n = 472) or pregnancy obtained after ART (n = 322). RESULTS: Overall, the false-positive rate and positive predictive value were 6.6% and 8.8% for MSS but 0% and 100% for cfDNA. MSS false-positive rate and positive predictive values were clearly poorer in the ART group (11.7% and 2.6%) than in the SP group (3.2% and 21.1%). The global rates of invasive procedures were 1.9% (15/794) with cfDNA but 8.4% (65/794) if MSS alone was proposed. CONCLUSION: cfDNA achieved better performance than MSS in both spontaneous and ART pregnancies, thus decreasing the number of invasive procedures. Our findings suggest that cfDNA should be considered for primary screening, especially in pregnancies obtained after ART.

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

BACKGROUND: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. Diagnostic criteria have been proposed to improve diagnosis in fetuses at clinicopathological survey, but no criteria exist for fetal diagnosis during pregnancy. METHOD: We collected prenatal findings of 12 children with CHARGE syndrome diagnosed in the first 3 months and a CHD7 mutation. We retrieved data on prenatal ultrasound (US) follow-up, fetal supplementary investigations, and results of postnatal evaluation. RESULT: Seven pregnancies were complicated by the identification of isolated or multiple congenital anomalies. CHARGE syndrome was suspected in three fetuses but could not be confirmed despite additional examinations. Retrospectively, several postnatal findings could have been seen if they had been specifically searched. Intrauterine growth restriction, previously proposed as an exclusion criterion, complicated two pregnancies and is thus compatible with the diagnosis. CONCLUSION: Diagnosis of CHARGE syndrome remains difficult during pregnancy. If the diagnosis of CHARGE syndrome is raised in utero, we suggest a careful US examination to identify typical external ears, choanal atresia, or microphthalmia. Fetal brain magnetic resonance imaging can be helpful, but a normal result does not exclude the diagnosis. When CHARGE syndrome is highly suspected, CHD7 molecular analysis must be proposed to confirm the diagnosis. © 2016 John Wiley & Sons, Ltd.

Prenatal Associated Features in Fetuses Diagnosed with an Aberrant Right Subclavian Artery.

OBJECTIVE: The objective of this study was to determine the frequency and the nature of associated anomalies, especially malformations and chromosome abnormalities, in a population of fetuses with an aberrant right subclavian artery (ARSA). MATERIALS AND METHODS: This is a 7-year descriptive study. All patients whose fetus had an ARSA diagnosed by ultrasound performed during the 1st, 2nd, or 3rd trimester of pregnancy were included, regardless of their risk of chromosomal abnormalities. RESULTS: Between May 2007 and April 2014, an ARSA was diagnosed in 120 fetuses. The outcome was found in 108 cases (90%). ARSA was an isolated finding in 54/108 cases (50%). In 20% (22/108) of the fetuses, chromosomal abnormalities were detected. No chromosomal abnormalities were found in fetuses with an isolated ARSA. 82% (18/22) of chromosomal abnormalities were usual, such as trisomies 21 and 18, monosomy X, and 22q11.2 deletion. 21% (23/108) of the fetuses presenting an ARSA were associated with having a congenital heart disease. CONCLUSION: The presence of an isolated ARSA is a condition rarely associated with a chromosomal abnormality. The decision to perform an invasive karyotyping procedure under such circumstances or not may be made according to the principle of parental autonomy after extensive counselling and mostly a thorough assessment of the fetus.

Feasibility and reproducibility of ShearWave(TM) elastography of fetal baboon organs.

OBJECTIVES: The purpose of this study was to assess the feasibility and reproducibility of transabdominal ShearWave(TM) elastography of fetal organs in pregnant baboons. MATERIALS AND METHODS: Fetal ultrasounds of all pregnant baboons in a single primate research center were performed prospectively during 9 months. The visualization of fetal targeted organs (liver, proximal and distal lungs, brain white matter and periventricular gray matter) was initially performed using 2D ultrasound, and then elastography mode was activated. For each organ, three measurements were carried out by two operators. Intra-observer and inter-observer intra-class correlation coefficients (ICC) were calculated. RESULTS: During the study period (03/2013-12/2013), 21 pregnant baboons (21 fetuses) were included. One to three ultrasound scans were performed for each fetus. The measurements were feasible by the two operators in all cases. The intra-observer and inter-observer ICC were 0.654, 95% CI (0.606 to 0.699) and 0.645, 95% CI (0.553 to 0.721) respectively. CONCLUSION: Transabdominal ShearWave(TM) Elastography of fetal organs can be achieved in pregnant baboons. The intra-observer and inter-observer reproducibility is correct but vary according to the targeted organs.

Monochorionic twins with discordant trisomy 21, another case to remind this uncommon condition and how to deal with.

Monozygotic twins discordant for trisomy 21 are rare. We present the twelfth reported case of this uncommon condition undergoing invasive prenatal diagnosis. Dealing with discordant fetal anomalies in monochorionic pregnancy can be challenging for physicians and patients; pros and cons of different invasive procedure options must be discussed with the couple, contending with certain specific peculiarities of this type of pregnancy. Although chorionic villi sampling can be performed earlier, higher risk of misdiagnosis of discordant aneuploidy is reported. Indeed, when heterokaryotic twins are suspected, a two-sampling amniocentesis is recommended, to ensure independent sampling of each fetus and to rule out confined placental mosaicism as well. The couple should be informed of the possible management and the risks for the non-affected twin whether selective reduction is required, and likewise if the pregnancy continues without selective termination.

A cost minimization analysis comparing asynchronous tele-expertise with face-to-face consultation for prenatal diagnosis in France.

Timely detection of congenital anomalies using ultrasound improves neonatal care. As specialist sonographers are often geographically dispersed, they are sometimes requested to provide a second opinion via tele-expertise. The present study aimed to evaluate the economic impact of asynchronous tele-expertise in obstetric ultrasound care in private medical practice through a comparison with face-to-face consultations. We conducted a cost minimization analysis using decision tree modeling in order to determine whether asynchronous tele-expertise or face-to-face consultation had the lowest cost, under the assumption of equivalent effectiveness in terms of prenatal diagnosis. Costs were measured from the societal perspective. The data for the base case of our modeling came from a retrospective analysis of the clinical practice of an expert who had been conducting asynchronous tele-expertise for 4 years in France. The study included 260 patients for whom 322 requests for expert opinions were made by physicians/midwives from January 2016 to January 2020. The expected average total cost for tele-expertise for a patient was €74.45 (95% CI: €66.36-€82.54) compared to €195.02 (95% CI: €183.90-€206.14) for the conventional face-to-face strategy. Accordingly, using tele-expertise led to a statistically significant reduction of €120.57 in the average total cost per patient. A sensitivity analysis confirmed the robustness of the model produced. The results of the present study underline the efficiency of tele-expertise and highlight related economic benefits. Accordingly, they could inform public health policy on the dissemination of tele-expertise in the field of obstetric ultrasound care.

The "cortical invagination sign": a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum.

BACKGROUND: Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in fetuses with agenesis of the corpus callosum. OBJECTIVE: This study aimed to describe the "cortical invagination sign," a specific sonographic feature of focal cortical dysgyria, which is consistently seen at midtrimester axial brain ultrasound in fetuses with complete agenesis of the corpus callosum. STUDY DESIGN: This was a retrospective analysis of prospectively collected data from 2018 to 2021, including patients referred to 5 fetal medicine centers in the second trimester of pregnancy (19 0/7 to 22 0/7 weeks of gestation) with suspected complete agenesis of the corpus callosum. All cases with the diagnosis of complete agenesis of the corpus callosum were submitted to an axial sonographic assessment of the fetal brain on the transventricular plane. In this scanning section, the mesial profile of both cerebral hemispheres at the level of the frontal-parietal cortex was investigated. In this area, the operator looked for an abnormal invagination of the cortical surface along the widened interhemispheric fissure, which was referred to as the "cortical invagination sign." All fetuses were submitted to dedicated antenatal magnetic resonance imaging to reassess the ultrasound findings. Cases with additional brain anomalies, which did not involve the cortex, were excluded. The final diagnosis was confirmed at postnatal brain magnetic resonance imaging or postmortem examination, for cases undergoing termination of pregnancy. The primary outcome of this study was to evaluate the presence and laterality of the "cortical invagination sign" in fetuses with complete agenesis of the corpus callosum at antenatal ultrasound and magnetic resonance imaging. RESULTS: During the study period, 64 cases of complete agenesis of the corpus callosum were included; of those cases, 50 (78.1%) resulted in termination of pregnancy, and 14 (21.9%) resulted in a live birth. The "cortical invagination sign" was detected at ultrasound in 13 of 64 cases (20.3%) and at targeted brain magnetic resonance imaging in 2 additional cases (23.4%), all of which were electively terminated. Moreover, the "cortical invagination sign" was found to be exclusively unilateral and on the left cerebral hemisphere in all the cases. There was a predominant number, although nonsignificant, of male fetuses (80.0% of cases; P=.06) in the group of complete agenesis of the corpus callosum with the "cortical invagination sign." CONCLUSION: The "cortical invagination sign" is a specific marker of focal cortical dysgyria, which seems to characterize at midtrimester of pregnancy in a large group of fetuses with complete agenesis of the corpus callosum. The etiology, pathophysiology, and prognostic significance of this finding remain to be elucidated.

Limb ischaemia at birth in a new-born whose mother tested positive for COVID-19 one month before delivery.

We report a case of right upper limb ischaemia diagnosed at birth in a neonate whose mother had presented with paucisymptomatic COVID-19 four weeks previously. Typical causes were investigated and excluded. Maternal morbidity and mortality resulting from COVID-19 during pregnancy is well recognised and documented, however, foetal and neonatal complications are increasingly being reported. Our case sheds further light on the diverse nature of such complications, and in particular this type of possible association related to their delayed onset.

Can uterine niche be prevented?

Uterine niche is a potential significant consequence of Caesarean section and is diagnosed by ultrasound. The timing of Caesarean section (during pre, early or advanced labour), location of the incision (distance from the internal os), techniques for opening and closing the uterine cavity, and bladder flap have been frequently mentioned in the literature, however, these factors continue to be a source of disagreement with respect to whether they increase the risk of uterine niche or protect against this complication. In this review, we outline and discuss the possible risk factors that may be responsible for this entity. The main factor upon which obstetricians can act is the rate of first Caesarean section, which can and should be reduced. Moreover, a rather high incision at a distance from the internal os, and a sparing use of bladder detachment should be always kept in mind as well.

Asynchronous tele-expertise (ASTE) for prenatal diagnosis is feasible and cost saving: Results of a French case study.

OBJECTIVE: The objective of this study was to assess the potential of the use of asynchronous tele-expertise (ASTE) to provide prenatal diagnosis from a medical and economic point of view. POPULATION: Patients screened by a midwife at a primary center. METHODS: A technical and clinical evaluation was conducted retrospectively, and a cost minimization study compared asynchronous tele-expertise to face-to-face consultations that would have been performed without ASTE. MAIN OUTCOME MEASURES: In our study we assessed the feasibility of ASTE, what were the origins of the requests for expertise, whether patients need to be moved and the reasons for doing so, and the costs of tele-expertise and conventional consultation. RESULTS: In this retrospective analysis 322 advices from 260 patients were interpreted remotely via a platform. The results revealed a 90.68% feasibility of transmitting in a satisfactory and interpretable way ultrasound images and videos via the tele-expertise platform (292/322 files). In our series, asynchronous analysis allowed the required physician to make an accurate diagnosis and identify 74 (28.5%, 95% CI [23% -33.9%]) pregnancies associated with malformations and rule out abnormalities in 186 (71.5%, 95% CI [66.1% -77%]) of the cases. The ASTE was not associated with face-to-face consultations for 72.7% (189/260) of the patients, who without moving, were able to have access to a precise diagnosis by ruling out the presence of anomalies in 163/189 of these patients and confirming them in 26/189 patients. The practice of ASTE would result from a societal point of view, an average saving of 61.8% (€ 120.57) per patient compared to a face-to-face consultation. CONCLUSION: The use of asynchronous tele-expertise (ASTE) using fetal ultrasound, is feasible and may contribute to increased diagnostic accuracy while generating a significant reduction in costs for society.

Acceptability and efficacy of vaginal self-sampling for genital infection and bacterial vaginosis: A cross-sectional study.

BACKGROUND & AIM: Screening for genital infection (GI) such as bacterial vaginosis (BV) and yeast infection, for sexually transmitted infection (STI), and for asymptomatic carriage of group B streptococcus (GBS) in pregnant women are common reason for medical appointments. The diagnosis and control of GIs, STIs, and GBS are major issues, for fertility and overall well-being of affected women. Conventional testing is performed using vaginal/cervical classical sampling (VCS); this procedure requires pelvic examination performed by health care professionals which raises concerns among women. Vaginal-self-sampling (VSS), as an alternative to VCS, might capture more women. The aim was first to show non-inferiority of VSS compared with VCS to screen for GIs, STIs, and GBS; second to determine the feasibility of VSS. METHODS: VSS and VCS from 1027 women were collected by health care professionals and simultaneously carried out on each patient. GIs, STIs, and GBS were systematically screened in both paired VSS and VCS samples. Non-inferiority of VSS compared with VCS was assessed using z statistic for binomial proportions. RESULTS: Prevalence of GIs were 39.7% using VSS and 38.1% using VCS (p = 0.0016). Prevalence of STIs was 8.5% (VSS) vs 8.1% (VCS) (p = 0.0087). Prevalence of GBS was 13.4% (VSS) and 11.5% (VCS) (p = 0.0001). Most participants (84%) recommended the use of VSS. CONCLUSIONS: This study shows that VSS was not inferior to VCS for the detection of GIs, STIs, and GBS. This study provides evidence that VSS can be used as a universal specimen for detection of lower genital tract infections in women. STUDY IDENTIFICATION NUMBER: ID-RCB 2014-A01250-4.

A definition of selectivity in laser coagulation of chorionic plate anastomoses in twin-to-twin transfusion syndrome and its relationship to perinatal outcome.

OBJECTIVE: This study was undertaken to correlate selectivity of surgery and perinatal outcome in twin-to-twin transfusion syndrome treated by endoscopic laser coagulation, using a quantitative definition of selectivity. STUDY DESIGN: 287 consecutive cases of severe twin-to-twin transfusion syndrome were reviewed. A selectivity index was built as the ratio of selective over nonselective coagulations per procedure. Outcome measures were survival at 28 days and failure of surgery as defined by recurrence of twin-to-twin transfusion syndrome or fetofetal hemorrhage. RESULTS: Two populations were identified: a high selectivity group (63.8%) and a low selectivity group (36.2%). Survival of at least one twin and survival of both twins were higher in the high-selectivity group (p = .007 and p = .04 respectively). Failure of surgery rates were similar in both groups. CONCLUSION: A quantitative definition of selectivity appears justified by the large variations found in the practice of a single center and by significant differences in outcome. Survival is significantly improved in highly selective procedures.