Prenatal Ultrasound Screening Research Articles

Performance of Prenatal Ultrasound Screening for the Relative Positioning of Mesenteric Vessels.

Abnormal relative positioning of the superior mesenteric artery (SMA) and vein (SMV) can lead to intestinal malrotation that predisposes to midgut volvulus. The aim of this study was to assess the prenatal ultrasound ability to visualize the relative position of SMA and SMV in normal pregnancies. Prospective cohort study performed in Montpellier University Hospital Centre, including 80 fetuses during routine 3rd trimester ultrasound scan. For each fetus included, the relative position of the vessels on an axial image was defined as SMV on the right, forward, or on the left of SMA. Doppler imaging was additionally used if necessary. Data were compared to the neonatal abdominal scans performed by pediatric radiologist. The superior mesenteric vessels were identified in 79 fetuses. Prenatal findings showed a usual relative position of the vessels, that is, the vein on the right of the artery, in 96.2%. In 2 cases, the vein was strictly in front of the artery, and in 1 case, the vein was on the left side of the artery. Seventy-four neonates were examined and comparison with prenatal finding showed a perfect agreement (Kappa coefficient of 100%). An intestinal malrotation was postnatally diagnosed corresponding to the case where vein was on the left side of the artery. This study showed that the relative position of the SMA and SMV could be assessed using ultrasound prenatal examination with a perfect agreement with postnatal findings. In case of abnormal vessels positioning more examinations should be promote including prenatal MRI and postnatal conventional radiologic examinations to confirm intestinal malrotation.

An effective ultrasound fetal palate screening software based on the “sequential sector scan through the oral fissure” and three-dimensional ultrasound

BackgroundOrofacial clefts are one of the most common congenital malformations of the fetal face and ultrasound is mainly responsible for its diagnosis. It is difficult to view the fetal palate, so there is currently no unified standard for fetal palate screening, and the diagnosis of cleft palate is not included in the relevant prenatal ultrasound screening guidelines. Many prenatal diagnoses for cleft palate are missed due to the lack of effective screening methods. Therefore, it is imperative to increase the display rate of the fetal palate, which would improve the detection rate and diagnostic accuracy for cleft palate. We aim to introduce a fetal palate screening software based on the “sequential sector scan though the oral fissure”, an effective method for fetal palate screening which was verified by our follow up results and three-dimensional ultrasound and to evaluate its feasibility and clinical practicability.MethodsA software was designed and programmed based on “sequential sector scan through the oral fissure” and three-dimensional ultrasound. The three-dimensional ultrasound volume data of the fetal face were imported into the software. Then, the median sagittal plane was taken as the reference interface, the anterior upper margin of the mandibular alveolar bone was selected as the fulcrum, the interval angles, and the number of layers of the sector scan were set, after which the automatic scan was performed. Thus, the sector scan sequential planes of the mandibular alveolar bone, pharynx, soft palate, hard palate, and maxillary alveolar bone were obtained in sequence to display and evaluate the palate. In addition, the feasibility and accuracy of the software in fetal palate displaying and screening was evaluated by actual clinical cases.ResultsFull views of the normal fetal palates and the defective parts of the cleft palates were displayed, and relatively clear sequential tomographic images and continuous dynamic videos were formed after the three-dimensional volume data of 10 normal fetal palates and 10 cleft palates were imported into the software.ConclusionsThe software can display fetal palates more directly which might allow for a new method of fetal palate screening and cleft palate diagnosis.

Expectations and basic knowledge in ultrasound screening among pregnant women: A questionnaire survey.

This study aimed to evaluate the disparity of the expectations and basic knowledge of prenatal ultrasound (US) screening among pregnant women and make a comparison with the current scientific knowledge and national recommendations. We hypothesize that sociodemographic factors, including age, education, and professional occupation, may be associated with different levels of knowledge. This was a cross-sectional study performed in 2021 of 336 women aged 18 to 46 years in a maternity facility in a tertiary hospital in Portugal. The main outcome measures were questionnaire data from questions divided into four categories (sociodemographic, expectations, knowledge, and final considerations/suggestions). The data were grouped according to the sociodemographic factors (age, educational level, and professional occupation) and analyzed and compared as a function of the social groups as well as overall tendencies. Our data confirmed a significant discrepancy between the expectations and general knowledge of pregnant women regarding prenatal US when compared with the current scientific knowledge. Importantly, we found that both depended greatly on sociodemographic factors, particularly educational level. This reiterated the importance of conducting effective dissemination actions of current scientific knowledge, focusing on the main objectives of US screening as well as the limitations of the existing technology. This study will help in defining strategies for future dissemination actions aiming to improve current practice and lead to a higher synchrony of expectations towards US between couples and practitioners.

Early diagnosis of solitary functioning kidney: comparing the prognosis of kidney agenesis and multicystic dysplastic kidney

BackgroundIndividuals with congenital solitary functioning kidney (SFK) are at an increased risk of kidney damage. According to some studies, the risk is higher in unilateral kidney agenesis (UKA) than in unilateral multicystic dysplastic kidney (UMCDK). We hypothesized that with early detection of children with UKA and UMCDK, there would be no difference in the presence of hypertension, proteinuria, and reduced glomerular filtration rate (GFR) between UKA and UMCDK.MethodsBased on a long-term follow-up protocol, we evaluated a cohort of 160 children followed from birth for SFK (84 with UKA and 76 with UMCDK) detected by prenatal or routine neonatal ultrasound screening. Hypertension, proteinuria, and reduced GFR were monitored as markers of kidney damage. We compared the characteristics and outcomes of the subgroups of children with UKA and UMCDK.ResultsGFR was reduced in 42 (26.2%) children, of whom 41 showed only mild reduction. Hypertension and proteinuria were found in 22 (13.8%) and 14 (8.8%) children, respectively. Combined kidney damage was present in 57 (35.6%) children. The UMCDK and UKA subgroups differed in GFR at final examination, with UMCDK patients being significantly more likely to have normal GFR compared to UKA patients (82% vs. 67%; p = 0.039).ConclusionsOne third of the children showed signs of SFK damage, albeit mild. Patients with UKA had reduced GFR significantly more often than those with UMCDK, but did not differ in the rates of hyperfiltration injury or congenital anomalies of the kidneys and urinary tract (CAKUT) in SFK.Graphical A higher resolution version of the Graphical abstract is available as Supplementary information

Comparison of the efficacy and safety of TAF, TDF, and LdT to prevent the transmission of hepatitis B in pregnant women: A retrospective study.

To compare the efficacy and safety of telbivudine (LdT), tenofovir alafenamide fumarate (TAF), and tenofovir disoproxil fumarate (TDF) for preventing hepatitis B transmission in immune-tolerant pregnant women with HBV infection. We conducted a retrospective cohort study involving women who had hepatitis B virus deoxyribonucleic acid (HBV DNA) ≥ 2 × 105 IU/mLand initiated LdT, TDF, or TAF to prevent mother-to-child transmission (MTCT). The primary endpoint was the safety of mothers and infants. The secondary endpoints were maternal HBV DNAreduction at delivery and MTCT rate. A total of 96 patients were enrolled in the study (LdT group, n = 36; TDF group, n = 35; TAF group, n = 25). All infants received hepatitis B virus immunoprophylaxis. The MTCT rate was 0%([0 of 25] vs. [0 of 35] vs. [0 of 36], p > .05). No severe liver function damage occurred in any of the mothers. Babies delivered in all groups had prenatal ultrasound screening abnormalities, but abnormality rates were not statistically significant between groups. The application of TDF, TAF, or LdT to immune-tolerant HBV-infected pregnant women in middle-late pregnancycan successfully interrupt MTCT of the HBV virus. However, for all three groups of pregnant women who delivered babies with abnormal prenatal ultrasound screening, an expanded sample size may be needed for further observation.

Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.

To prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening. Between January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes. Ultrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6°. All cases of isolated fetal micrognathia in the initial scans were non-isolated in the following scans. A total of 78.9% (15/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow-up. IFA is a useful indicator and three-dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.

Prenatal Ultrasound Imaging of Orofacial Clefts: A Pictorial Essay.

Orofacial clefts (OFCs), including cleft lip (CL), cleft palate (CP), and CL with palate (CL/P), are relatively common congenital birth defects occurring in approximately 1 in 500 to 1 in 2500 live births. Detecting OFCs during prenatal ultrasound screening is crucial for informed decision-making and multidisciplinary medical care. This review provides a practical guide for routine and advanced screening for OFCs during mid-pregnancy. The Maarse classification system facilitates effective communication among the multidisciplinary team, categorizing OFCs into five types. Basic ultrasound views encompass coronal, sagittal, and axial imaging of the face and hard palate. Additional visualization techniques are employed in case of suspected anomalies during the initial screening. Advanced ultrasound views provided by the expert in prenatal OFC diagnosis include imaging of the posterior edge of the hard palate and the posterior part of the soft palate. Detected OFCs exhibit a range of severity and affect different structures, underscoring the importance of accurate detection and classification for appropriate treatment planning. Implementing a standardized screening protocol for OFCs is essential. By enhancing detection rates and enabling early diagnosis, prenatal ultrasound screening contributes to improved patient outcomes and facilitates timely intervention by the multidisciplinary team. In conclusion, this review emphasizes the significance of standardized protocols and specialized techniques for prenatal ultrasound screening of OFCs. Early detection and classification of these malformations play a vital role in comprehensive management, ensuring that affected individuals and their families receive the appropriate care and support they need.

Deep-learning model for prenatal congenital heart disease screening generalizes to community setting and outperforms clinical detection.

Despite nearly universal prenatal ultrasound screening programs, congenital heart defects (CHD) are still missed, which may result in severe morbidity or even death. Deep machine learning (DL) can automate image recognition from ultrasound. The main aim of this study was to assess the performance of a previously developed DL model, trained on images from a tertiary center, using fetal ultrasound images obtained during the second-trimester standard anomaly scan in a low-risk population. A secondary aim was to compare initial screening diagnosis, which made use of live imaging at the point-of-care, with diagnosis by clinicians evaluating only stored images. All pregnancies with isolated severe CHD in the Northwestern region of The Netherlands between 2015 and 2016 with available stored images were evaluated, as well as a sample of normal fetuses' examinations from the same region and time period. We compared the accuracy of the initial clinical diagnosis (made in real time with access to live imaging) with that of the model (which had only stored imaging available) and with the performance of three blinded human experts who had access only to the stored images (like the model). We analyzed performance according to ultrasound study characteristics, such as duration and quality (scored independently by investigators), number of stored images and availability of screening views. A total of 42 normal fetuses and 66 cases of isolated CHD at birth were analyzed. Of the abnormal cases, 31 were missed and 35 were detected at the time of the clinical anatomy scan (sensitivity, 53%). Model sensitivity and specificity were 91% and 78%, respectively. Blinded human experts (n = 3) achieved mean ± SD sensitivity and specificity of 55 ± 10% (range, 47-67%) and 71 ± 13% (range, 57-83%), respectively. There was a statistically significant difference in model correctness according to expert-graded image quality (P = 0.03). The abnormal cases included 19 lesions that the model had not encountered during its training; the model's performance in these cases (16/19 correct) was not statistically significantly different from that for previously encountered lesions (P = 0.41). A previously trained DL algorithm had higher sensitivity than initial clinical assessment in detecting CHD in a cohort in which over 50% of CHD cases were initially missed clinically. Notably, the DL algorithm performed well on community-acquired images in a low-risk population, including lesions to which it had not been exposed previously. Furthermore, when both the model and blinded human experts had access to only stored images and not the full range of images available to a clinician during a live scan, the model outperformed the human experts. Together, these findings support the proposition that use of DL models can improve prenatal detection of CHD. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Diagnostic Accuracy of Physical Examination and Pulse Oximetry for Critical Congenital Cardiac Disease Screening in Newborns.

Newborns with a critical congenital heart disease left undiagnosed and untreated have a substantial risk for serious complications and subsequent failure to thrive. Prenatal ultrasound screening is not widely available, nor is postnatal echocardiography. Physical examination is the standard for postnatal screening. Pulse oximetry has been proposed in numerous studies as an alternative screening method. This systematic review and meta-analysis aims to determine the diagnostic accuracies of both screening methods separately and combined. A systematic literature search of the Embase, PubMed, and Global Health databases up to 30 November 2023 was conducted with the following keywords: critical congenital heart disease, physical examination, clinical scores, pulse oximetry, and echocardiography. The search included all studies conducted in the newborn period using both physical examination and pulse oximetry as screening methods and excluded newborns admitted to the intensive care unit. All studies were assessed for risk of bias and applicability concerns using the QUADAS-2 score. The review adhered to the PRISMA 2020 statement guideline. Out of 2711 articles, 20 articles were selected as eligible for meta-analysis. Cumulatively, the sample included 872,549 screened newborns. The pooled sensitivity of the physical examination screening method was found to be 0.69 (0.66-0.73 (95% CI)) and specificity was found to be 0.98 (0.98-0.98). For the pulse oximetry screening method, the pooled sensitivity and specificity yielded 0.78 (0.75-0.82) and 0.99 (0.99-0.99), respectively. The combined method of screening yielded improved diagnostic characteristics at a sensitivity and specificity of 0.93 (0.91-0.95) and 0.98 (0.98-0.98, respectively. The evidence indicates that combining both physical examination and pulse oximetry to screen for critical congenital heart disease exceeds the accuracy of either separate method. The main limitation is that solely newborns with suspected critical congenital heart disease were subjected to the reference standard. We recommend adapting both methods to screen for critical congenital heart diseases, especially in settings lacking standard fetal ultrasound screening. To increase the sensitivity further, we recommend increasing the screening time window and employing the peripheral perfusion index.

Incidence, distribution, disease spectrum, and genetic deficits of congenital heart defects in China: implementation of prenatal ultrasound screening identified 18,171 affected fetuses from 2,452,249 pregnancies

BackgroundCongenital heart defects (CHDs) are the most common birth defects. Assessment of the incidence, distribution, disease spectrum, and genetic deficits of fetal CHDs in China is urgently needed.MethodsA national echocardiography screening program for fetal CHDs was implemented in 92 prenatal screening–diagnostic centers in China.FindingsA total of 18,171 fetal CHD cases were identified from 2,452,249 pregnancies, resulting in 7·4/1,000 as the national incidence rate of fetal CHD. The incidences of fetal CHD in the six geographical regions, the southern, central, eastern, southwestern, northern, and northwestern, were 7·647 (CI: 7·383–7·915), 7·839 (CI: 7·680–8·000), 7·647 (CI: 7·383–7·915), 7·562 (CI: 7·225–7·907), 5·618 (CI: 5·337–5·906), and 4·716 (CI: 4·341–5·108), respectively, per 1,000 pregnancies. Overall, ventricular septal defect was the most common fetal CHD, accounting for 17.04% of screened pregnancies nationwide, and tetralogy of Fallot, the most common anomaly in the major defect of fetal CHD, was the second most common, accounting for 9.72%. A total of 76.24% cases of fetal CHD were found to be an isolated intracardiac single defect. The remaining 23.76% of cases of fetal CHD had multiple heart defects. Among all extracardiac malformations, the central nervous system (CNS) was the most common tissue with extracardiac anomalies associated with CHD, accounting for 22.89% of fetal CHD cases. Chromosomal karyotyping identified trisomy 18 as the most common chromosomal abnormality in fetal CHD. We also documented that CHD-containing syndromes could be identified with a comprehensive approach integrating prenatal ultrasound, MRI, pathological autopsy, and cytogenetics and molecular genetics.ConclusionImplementation of prenatal echocardiography as a practically feasible platform to screen fetal CHD will reduce the financial and emotional burden of CHD, which may facilitate intrauterine and neonatal intervention of CHD.

Prenatal ultrasound screening and pregnancy outcomes in HIV-positive women in Germany: results from a retrospective single-center study at the Charité-Universitätsmedizin Berlin.

The aim of this study was to investigate the rate of Mother-to-child-transmission (MTCT) in women living with HIV (WLWH) in a tertiary care institution. Furthermore, we aimed to assess prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection." In this single-center study, retrospective data related to pregnancy and childbirth were collected from 420 WLWH. All data were evaluated descriptively. From January 2014 to December 2020, a total number of 420 pregnant WLWH delivered 428 newborns. 415 (98.8%) were receiving antiretroviral therapy (ART) and 88.8% had a viral load of < 50 cop/ml prior delivery. 46 (11%) of the newborns were born prematurely. Low birth weight < 2500g occurred in 38 (9.1%) of the children. 219 (52.1%) caesarean sections (CS) were performed. The most frequent indication for an elective CS was a previous CS (70.2%). 8 severe malformations were detected using first and second trimester ultrasound. In one child, MTCT was detected postpartum, resulting in an HIV transmission rate of 0.2% in the presented cohort. The low rate of vertical HIV-transmission in our cohort of 0.2% is the result of interdisciplinary prenatal care and high experience of healthcare providers in treatment of WLWH. Despite high ART coverage and adherence, good maternal immune system and very low vertical HIV transmission rate, maternal HIV infection remains a challenge in obstetric care. First and second ultrasound screening should be a part of prenatal care for HIV-infected women and should also be offered to HIV-negative women. A reduction of the rate of unnecessary elective caesarean deliveries in WLWH is necessary to reduce complications in subsequent pregnancies.

FHUSP-NET: A Multi-task model for fetal heart ultrasound standard plane recognition and key anatomical structures detection

In prenatal ultrasound screening, rapid and accurate recognition of the fetal heart ultrasound standard planes(FHUSPs) can more objectively predict fetal heart growth. However, the small size and movement of the fetal heart make this process more difficult. Therefore, we design a deep learning-based FHUSP recognition network (FHUSP-NET), which can automatically recognize the five FHUSPs and detect tiny key anatomical structures at the same time. 3360 ultrasound images of five FHUSPs from 1300 mid-pregnancy pregnant women are included in this study. 10 fetal heart key anatomical structures are manually annotated by experts. We apply spatial pyramid pooling with a fully connected spatial pyramid convolution module to capture information about targets and scenes of different sizes as well as improve the perceptual ability and feature representation of the model. Additionally, we adopt the squeeze-and-excitation networks to improve the sensitivity of the model to the channel features. We also introduce a new loss function, the efficient IOU loss, which makes the model effective for optimizing similarity. The results demonstrate the superiority of FHUSP-NET in detecting fetal heart key anatomical structures and recognizing FHUSPs. In the detection task, the value of mAP@0.5, precision, and recall are 0.955, 0.958, and 0.931, respectively, while the accuracy reaches 0.964 in the recognition task. Furthermore, it takes only 13.6 ms to detect and recognize one FHUSP image. This method helps to improve ultrasonographers' quality control of the fetal heart ultrasound standard plane and aids in the identification of fetal heart structures in a less experienced group of physicians.

Prevalence of anomalies on the routine mid-trimester ultrasound: 3172 consecutive cases by a single maternal-fetal medicine specialist.

The routine mid-trimester fetal anatomy ultrasound (FAS) is offered to every pregnant woman and remains critical in the detection of structural fetal anomalies. Our study aimed to determine the prevalence of abnormalities on routine FAS performed by a single operator, who is an experienced sub-specialist in maternal-fetal medicine. A retrospective analysis of all routine FAS performed a tertiary private obstetric ultrasound practice in metropolitan Sydney over a 7-year period, August 2015-July 2022. An advanced ultrasound protocol including detailed cardiac views was used in every case. Second opinion scans for suspected abnormalities were excluded. Fetal anomalies were classified into major and minor, based on the likely need for neonatal intervention. Among 14,908 obstetric ultrasound examinations, routine FAS were performed on 3172 fetuses by a single operator. More than 99% of women had screened low-risk for fetal aneuploidy. Structural anomalies were identified in 5% (157/3172) of fetuses; the prevalence of major anomalies was 1% (30/3172). Almost 60% of total anomalies were either cardiac or renal. No differences were identified in anomaly rates for singletons compared with twins (5.0% vs. 4.2%; P = 0.75). The prevalence of placenta previa and vasa previa was 10% and 0.1%, respectively. The prevalence of fetal anomalies on routine FAS by a single operator using a standardised protocol was higher in our practice (5%) than in previously published studies. Although most anomalies were minor, the rate of major abnormality was 1%. The routine mid-trimester FAS remains an integral component of prenatal ultrasound screening.

A practical method for prenatal diagnosis of anal atresia by second trimester ultrasound screening - A retrospective study

ObjectivesThe study aimed to demonstrate the performance of anal atresia ultrasound screening in the second trimester and to describe associated experiences in a primary care fetal medicine clinic. Materials and methodsWe retrospectively analyzed the medical records of fetuses who underwent a second-trimester screening at the Taiji clinic between November 2019 and May 2022. Fisher's exact test was conducted to investigate potential risk factors. ResultsThere were 28 459 fetuses screened in our clinic during the study period; eventually, 6 cases were diagnosed with anal atresia after birth. The incidence of anal atresia in our sample was 2.11 in 10 000. Based on our findings, potential risk factors significantly associated with anal atresia included: multiple pregnancies (p-value = 0.0185) and in-vitro fertilization (p-value = 0.038). Half of the anal atresia cases were associated with abnormalities affecting other organ systems, most frequently the genitourinary system (66.7%) and cardiovascular system (66.7%), especially persistent left superior vena cava (2 cases). ConclusionAnal atresia is a malformation that requires extensive care; the clinical management after the prenatal discovery of its signs should include testing for chromosomal abnormalities and close monitoring of the amniotic fluid volume. Therefore, prenatal ultrasound screening for anal atresia in the second trimester is critical, particularly in the cases of multiple and IVF pregnancies, and multiple abnormalities. The fetuses with ultrasound signs of anal atresia should be followed at a later gestational period and referred to a specialized institution for postnatal management planning and parental counseling.

Outcome of partial agenesis of corpus callosum

The diagnosis of corpus callosum anomalies by prenatal ultrasound has improved over the last decade because of improved imaging techniques, scanning skills, and the routine implementation of transvaginal neurosonography. Our aim was to investigate all cases of incomplete agenesis of the corpus callosum and to report the sonographic characteristics, the associated anomalies, and the perinatal outcomes. We performed a retrospective analysis of cases from January 2007 to December 2017 with corpus callosum anomalies, either referred for a second opinion or derived from the prenatal ultrasound screening program in a single tertiary referral center. Cases with complete agenesis were excluded from the analysis. Standardized investigation included a detailed fetal ultrasound including neurosonogram, fetal karyotyping (standard karyotype or array comparative genomic hybridization) and fetal magnetic resonance imaging. The pregnancy outcome was collected, and pathologic investigation in case of termination of the pregnancy or fetal or neonatal loss was compared with the prenatal findings. The pregnancy and fetal or neonatal outcomes were reported. The neurologic assessment was conducted by a pediatric neurologist using the Bayley Scales of Infant Development-II and the standardized Child Development Inventory when the Bayley investigation was unavailable. Corpus callosum anomalies were diagnosed in 148 cases during the study period, 62 (41.9%) of which were excluded because of complete agenesis, and 86 fetuses had partial agenesis (58.1%). In 20 cases, partial agenesis (23.2%) was isolated, whereas 66 (76.7%) presented with different malformations among which 29 cases (43.9%) were only central nervous system lesions, 21 cases (31.8%) were non-central nervous system lesions, and 16 cases (24.3%) had a combination of central nervous system and non-central nervous system lesions. The mean gestational age at diagnosis for isolated and non-isolated cases was comparable (24.29 [standard deviation, 5.05] weeks and 24.71 [standard deviation, 5.35] weeks, respectively). Of the 86 pregnancies with partial agenesis, 46 patients opted for termination of the pregnancy. Neurologic follow-up data were available for 35 children. The overall neurologic outcome was normal in 21 of 35 children (60%); 3 of 35 (8.6%) showed mild impairment and 6 of 35 (17.1%) showed moderate impairment. The remaining 5 of 35 (14.3%) had severe impairment. The median duration of follow-up for the isolated form was 45.6 months (range, 36-52 months) and 73.3 months (range, 2-138 months) for the nonisolated form. Partial corpus callosum agenesis should be accurately investigated by neurosonography and fetal magnetic resonance imaging to describe its morphology and the associated anomalies. Genetic anomalies are frequently present in nonisolated cases. Efforts must be taken to improve ultrasound diagnosis of partial agenesis and to confirm its isolated nature to enhance parental counseling. Although 60% of children with prenatal diagnosis of isolated agenesis have a favorable prognosis later in life, they often have mild to severe disabilities including speech disorders at school age and behavior and motor deficit disorders that can emerge at a later age.

Screening for Critical Congenital Heart Defects in Sweden.

Early diagnosis of critical congenital heart defects (CCHD) improves survival. We evaluated the relative contributions of prenatal ultrasound, neonatal pulse oximetry screening (POS), and neonatal physical examination (NPE) to the early detection (before discharge) of CCHD in the context of increasing prenatal detection, and POS being a national standard since 2013. Retrospective, nationwide population-based study. All full-term live-born infants with CCHD in Sweden between 2014 and 2019 were included. CCHD was defined as a congenital heart defect requiring surgery or catheter-based intervention or resulting in death within 28 days of birth. Of 630 infants, 89% were diagnosed before discharge or death, 42% prenatally, 11% from early symptoms, 23% by POS, and 14% from NPE after a negative POS. Four (0.6%) died undiagnosed before discharge and 64/630 (10%) were discharged undiagnosed, with 24/64 being readmitted with circulatory failureand causing 1 preoperative death. Coarctation was the most prevalent CCHD (N = 184), 25% of whom were detected prenatally (12% by POS and 29% by NPE). Two died undiagnosed before discharge and 30% were discharged undiagnosed. Transposition was the second most common defect (N = 150) and 43% were detected prenatally (33% by POS, 1 by NPE) and 2 died undiagnosed before POS. None was discharged undiagnosed. POS and NPE remain important for the early detection of CCHD complementing prenatal ultrasound screening. Nevertheless, 1 in 10 with CCHD leaves the hospital without a diagnosis, with coarctation being the predominant lesion. Future research on CCHD screening should have a particular focus on this cardiac defect.

Ultrasound Detection of Fetal Palate Development in the Early Stages of the Second Trimester and Its Clinical Application.

To establish normal values of palatal bone growth in fetuses at different gestational weeks in the early stages of the second trimester and to explore the clinical application value of the four-step ultrasound screening method for fetal cleft lip and palate. A prospective study of prenatal ultrasound screening. Secondary maternal and child health institutions. 300 fetuses of 12 to 20 +6 weeks gestation without cleft lip and/or palate; 8538 fetuses at high risk of cleft lip and palate with malformations or karyotypic abnormalities. None. palatomandibular diameter (PMD) and transverse palatal diameter was measured and establish their typical values. (1) There is a typical "superimposed line" sign in the median sagittal section of the typically developing fetal face from 12 to 20+6 weeks of gestation. (2) The PMD and hard palate transverse diameter of fetuses from 12 to 20+6 weeks of gestation increased linearly with time. (3) Among 8538 high-risk fetuses, 21 cases of cleft lip and palate were diagnosed by the four-step ultrasound screening method in the early stages of the second trimester. The median sagittal section of the typically developing fetal face in the early stages of the second trimester presents a typical "superimposed line" sign, and the PMD and transverse palatal diameter increase with time. The four-step ultrasound screening method for fetal cleft lip and palate in the early stages of the second trimester has high clinical application value.

Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital.

Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007. Retrospective analysis of a cohort of patients with orofacial clefts followed by the trans-disciplinary team of a tertiary hospital. A total of 672 OFCs were identified: 40.9% isolated cleft palate, 38.1% cleft lip and palate, 19.7% cleft lip and 1.3% atypical cleft; 57.1% were male. The prevalence of family history was 26.0% of which 30.9% had a recognizable syndrome. Of those born before 2001, 13.7% had prenatal diagnosis; of those born between 2001 and 2007, 32.6% orofacial clefts were diagnosed in utero; and in children born after 2007, prenatal diagnosis increased to 47.1%. In our study, about one-fourth of children had a positive family history. Since the implementation of universal ultrasound screening in Portugal, more orofacial clefts were identified in utero (42.5% vs. 13.7%; p < 0.05) and after the availability of advanced ultrasound, prenatal diagnosis increased to 47.1% (vs. 20.4% before 2007; p < 0.05). Of all orofacial clefts diagnosed prenatally, ultrasound revealed more accuracy for the diagnosis of cleft lip and palate (65.4%) and cleft lip (24.8%). Cleft palate is the most difficult to detect in utero (9.3%). Prenatal ultrasound screening in Portugal has technically evolved with consequent better diagnostic accuracy for the identification of orofacial clefts, allowing better parenteral counseling.

Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings.

Second-trimester 2D ultrasound (US) assessment of the fetal anatomy, as proposed by worldwide guidelines, allows detecting the majority of fetal malformation. However, the detection rates of fetal facial anomalies seem to still be low, mostly in cases of isolated facial malformation. The purpose of this research was to assess and analyze the concordance between the antenatal imaging findings from second-trimester US screening and the results of fetal postmortem autopsy. Between January 2010 and January 2020, there were 43 cases where fetuses with prenatal ultrasound diagnosis of a face abnormality, associated or not with a genetic syndrome or chromosomal disorder, following intrauterine death (IUD) or termination of pregnancy (TOP) after the 13 weeks of pregnancy, underwent autopsy in the Pathological Anatomy section of Bari Polyclinic specializing in feto-placental autopsies. The diagnosis of the fetal facial defects at ultrasound was compared with the findings at autopsy in all cases. A very high level of agreement between prenatal ultrasound and autopsy findings was found for facial abnormalities associated with genetic syndromes or numerical abnormality of chromosomes. A lower level of concordance was instead found in isolated facial defects or those associated with other organ anomalies, but not associated with genetic syndrome or numerical chromosome anomaly. A detailed examination of aborted fetuses led to successful quality control of early-second-trimester ultrasound detection of facial anomalies; however, it was less accurate for the isolated ones. It is, thus, reasonable to propose a systematic early-second-trimester prenatal ultrasound screening for facial anatomy by operators specialized in fetal medicine field, using 2D, 3D, and 4D techniques (two-, three-, and four-dimensional ultrasound).

A novel CHD7 variant in a chinese family with CHARGE syndrome.

CHARGE syndrome is a rare autosomal dominant (AD) multi-system disorder with a broad and variable clinical manifestation and occurs in approximately 1/10,000 newborns in the world. Mutations in the CHD7 gene are the genetic cause of over 90% of patients with typical CHARGE syndrome. The present study reported a novel variant in the CHD7 gene in a Chinese family with an abnormal fetus. Routine prenatal ultrasound screening showed fetal heart abnormality and left foot varus. Chromosomal microarray analysis (CMA) and fetus-parent whole-exome sequencing (trio-WES) were performed to determine the genetic cause of the fetus. The candidate variant was further verified using Sanger sequencing. CMA analysis revealed normal results. However, WES analysis identified a de novo heterozygous variant of c.2919_2922del (NM_017780.4) on exon 11 of CHD7 gene, resulting in a premature truncation of the CHD7 protein (p.Gly975*). The variant was classified as Pathogenic (PVS1 + PS2_Moderate + PM2_Supporting) based on the ACMG guidelines. Combined with the clinical phenotype of fetal heart abnormalities, it was confirmed CHARGE syndrome. We identified a novel heterozygous variant c.2919_2922del in CHD7 of a Chinese fetus with CHARGE syndrome, enriching the genotype-phenotype spectrum of CHD7. These results suggest that genetic testing could help facilitate prenatal diagnosis of CHARGE syndrome, thus promoting the appropriate genetic counseling.