Improvement In Prenatal Diagnosis Research Articles

Postnatal diagnosis of congenital anomalies despite active systematic prenatal screening policies: a population-based registry study

Prenatal screening for congenital anomalies is an important component of maternity care, with continual advances in screening technology. However, few recent studies have investigated the overall effectiveness of a systematic policy of prenatal screening for congenital anomalies, such as in France where an ultrasound per trimester is recommended for all pregnant individuals. This study aimed to assess the proportion and the type of congenital anomalies that are not detected during pregnancy. The study population included all singleton fetuses and newborns with congenital anomalies from the Paris Registry of Congenital Malformations (remaPAR) from 2001 to 2021. The registry includes all live births and stillbirths at ≥22 weeks of gestation and terminations of pregnancy for fetal anomaly at any gestational age with congenital anomalies diagnosed from the prenatal period until discharge home from hospital after birth. The prevalence of postnatally detected congenital anomalies was estimated overall and for 5-year intervals within the study period. We also reported the proportion of postnatal detection by subgroups of congenital anomalies according to the EUROCAT classification. Of the 16,602 malformed singleton fetuses and newborns, 32.7% were detected postnatally. Of those with severe anomalies, 11.9% were detected postnatally. The postnatal detection rate decreased from 34.3% from 2001 to 2005, to 27.8% from 2016 to 2021 (P<.001). Anomalies most frequently detected postnatally were genital anomalies (n=969; 87.0%), followed by ear, neck, and face anomalies (n=71; 78.0%), eye anomalies (n=154; 74.0%), and limb anomalies (n=1802; 68.4%). Anomalies of the kidneys and the urinary tract (n=219; 7.1%) and the abdominal wall (n=37; 8.7%) were least likely to be detected after birth. Among the anomalies classified as severe, postnatal detection rates were highest for limb reduction defects (n=142; 40.6%), complete transposition of the great arteries (n=31; 17.6%), and diaphragmatic hernia (n=26; 17.2%). Despite improvement of prenatal screening over a 20-year period, our results show that there is still a margin for improvement in prenatal diagnosis of congenital anomalies.

Moral dilemma: To operate or not to operate

Moral dilemma: To operate or not to operate

Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study.

PurposeWe assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies.Materials and MethodsThis study was conducted as a secondary analysis of data obtained during a multicenter prospective cohort study that investigated the cost-effectiveness of prenatal testing for fetal aneuploidy. We analyzed the prenatal detection rate and accuracy for CHD screening via ultrasound during the second trimester, as well as associations between serum biomarkers and CHDs, in singleton newborns without chromosomal abnormalities.ResultsAmong 6715 women, 142 (2.1%) newborns were born with CHDs, of which 67 (1.0%) newborns had major CHDs. The prenatal detection rate for all CHDs and major CHDs were 34.5% and 58.2%, respectively. After excluding isolated ventricular septal defects, the detection rate for critical CHDs was 85.9%. Women with low pregnancy-associated plasma protein A (PAPP-A) (<0.4 multiples of the median, MOM) face increased risks of non-chromosomal CHDs [adjusted odds ratio (aOR) 2.76; 95% confidence interval (CI) 1.36–5.13] and major CHDs (aOR 7.30; 95% CI 3.18–15.59), compared to those without CHDs. A higher inhibin A level (≥2.5 MOM; aOR 4.84; 95% CI 1.42–12.46) was associated with non-chromosomal major CHDs.ConclusionUltrasonography performed during the second trimester by obstetricians detected over 85% of critical CHDs. Low maternal serum PAPP-A or high inhibin-A was associated with non-chromosomal CHDs. These results may contribute to an improvement in prenatal diagnosis of CHDs.

Fetal therapy for congenital hydrocephalus-where we came from and where we are going.

Despite unfavorable outcomes during the early experience with in utero intervention for congenital hydrocephalus, improvements in prenatal diagnosis, patient selection, and fetal surgery techniques have led to a renewed interest in fetal intervention for congenital hydrocephalus. Research studies and clinical evidence shows that postnatal cerebrospinal fluid diversion to release intraventricular pressure and cerebral mantle compression usually arrives late to avoid irreversible brain damage. Make sense to decompress those lateral ventricles as soon as possible during the intrauterine life when hydrocephalus is antenatally detected. We present a historical review of research in animal models as well as clinical experience in the last decades, traveling until the last years when some research fetal therapy groups have made significant progress in recapitulating the prenatal intervention for fetuses with congenital obstructive hydrocephalus.

807: Epidemiology of placental abnormalities and adverse pregnancy outcomes

Abruption and previa account for the majority of bleeding in the 3rd trimester. We sought to characterize the epidemiology of women diagnosed with previa only, abruption only, both previa and abruption in the same pregnancy. We undertook a cross-sectional analysis using the US National Hospital Survey data (1979-2010). Temporal changes in the prevalence of previa only, abruption only, and both previa and abruption were assessed. The data was then stratified by race and rate ratios (RR) and 95% CI were estimated from Poisson regression models, adjusted for potential confounders. Of a total of 125,146,397 delivery hospitalizations, the prevalence rates of previa, abruption, and both previa and abruption were 3.7, 9.6, and 0.3 per 1000, respectively. Rates of previa, abruption, and both previa and abruption stratified by race are shown in Table 1. Rates of previa were increased in other races compared to white and black women. Rates of abruption were highest in black women. Rates of previa with abruption were increased in blacks and other women. Rates of previa alone and abruption alone increased between 1979 and 2010 (Table 2). However, when adjusted for age, race, insurance status, marital status, hospital ownership and hospital bed size, the rate ratio for previa only and previa with abruption declined. Given the possibility of diagnosing previa through advances in prenatal ultrasound, the increase in rate of previa in the absence of abruption is likely due to improvements in prenatal diagnosis. The increased burden of ischemic placental disease (preeclampsia and IUGR) and gestational diabetes, all strong risk factors for abruption, may be a reason for increased rates of abruption, and previa accompanied by abruption, among blacks. The decline in the rate of previa with abruption is likely due to improved coding and ability to distinguish a bleeding previa from an abruption.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

Perinatal mortality in Iceland 1988-2017

Introduction Perinatal mortality refers to stillbirth and neonatal death during the first week of life. Recently perinatal mortality rate in Iceland has been among the lowest in the world. The aim of the study was to evaluate how perinatal mortality rate and its causes have changed in Iceland during the last 30 years, particularly to see if it is possible to lower the perinatal mortality rate even more. Cases and methods The study was retrospective and included all infants that were stillborn or died during the first week of life in 1988-2017. Information was obtained from the Icelandic Medical Birth Registry, the annual reports on births in Iceland. A classification focusing on identifying groups of perinatal death that are potentially avoidable was used. An annual percent change was calculated with Poisson regression. Results The perinatal mortality rate declined on average by 3,3% per year in the period based on ≥28+0 weeks gestation. The number of infants that died because of congenital anomalies decreased on average by 4,8% per year. The number of growth restricted stillborn singletons after ≥28+0 weeks of gestation decreased on average by 3,1% per year. The number of non growth restricted stillborn singletons after ≥28+0 weeks of gestation did not decrease significantly. Conclusion Perinatal mortality rate has declined substantially in Iceland during 30 years. Deaths because of congenital anomalies have decreased considerably due to improvement in prenatal diagnosis. Stillbirths associated with growth restriction have decreased but stillbirths that are not associated with growth restriction have not. Thus it is important to emphasize that women seek medical attention when they experience decreased fetal movements.

Current strategies to predict and manage sequelae of posterior urethral valves in children.

Posterior urethral valves (PUV) constitute a significant urological cause of chronic kidney disease (CKD) in children. The condition is characterised by the unique pathophysiology of the evolution of bladder dysfunction after relief of obstruction, which contributes to CKD. Improvements in prenatal diagnosis followed by selective foetal intervention have not yet produced improvement in long-term renal outcomes, although better patient selection may alter this in the future. Proactive management with surveillance, pharmacotherapy, timed voiding, double voiding, and/or assisted bladder-emptying, is being increasingly offered to those with severe bladder dysfunction and has the potential of reducing the burden of renal disease. Clinicians are currently able to counsel regarding the prognosis using serum creatinine and other emerging markers. However, much of this work remains to be validated. Satisfactory graft survival rates are now reported with aggressive management of bladder dysfunction in children who are candidates for renal transplantation. Knowledge gaps exist in identifying early markers of renal injury, risk stratification, and in understanding patient and carer perspectives in PUV.

Beckwith-Wiedemann Syndrome in IVF: need for improvement in prenatal diagnosis

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder that affects at least 1 in 11,000 children who are at increased risk for neonatal hypoglycemia and cancer. BWS may be suspected during routine fetal ultrasound due to omphalocele, renal anomalies, or placentomegaly or with elevated serum alpha-fetoprotein (AFP) in the second trimester screen. Prenatal diagnosis is important for early intervention and management. Children conceived via assisted reproductive technology have a 3-9 fold higher risk of BWS than the general population.

Correlation between clinical and ultrasonographic diagnosis in patients with first trimester vaginal bleeding

Introduction: Amongst the recent advances in obstetrical care, the introduction of ultrasonography has been a major contribution to improvement in prenatal diagnosis. The present study was conducted to correlate the clinical and ultrasonographic diagnosis in cases with bleeding per vaginum during the first 12 weeks of pregnancy. Material & Methods: A total sample of 150 cases presenting with bleeding per vaginum in first trimester of pregnancy were included in the study. A detailed history and examination was done for all the cases to arrive at a provisional clinical diagnosis. All cases were then subjected to ultrasound examination for confirmation of diagnosis and a definite management was planned. Results: Maximum number of cases with first trimester bleeding per vaginum belonged to the age group of 18-27 years. Clinically, the most common diagnosis was threatened abortion (86.67%) with remaining cases as missed abortion (5.33%), incomplete abortion (4%), ectopic pregnancy (2%), hydatiform mole (0.67%), threatened abortion with cervical polyp (0.67%) and complete abortion (0.67%). On ultrasonography also, the commonest diagnosis was threatened abortion (44%) showing a discrepancy of 49.23%, thereby, emphasising on a crucial role of ultrasonography in cases with first trimester bleeding per vaginum. Conclusions: Ultrasound is a very valuable aid in assessment of bleeding per vaginum in first trimester of pregnancy. After ultrasonography, treatment can be more accurately decided thereby saving time and cost of the patients as well as the healthcare system.

Pediatric prenatal diagnosis of congenital heart disease.

Fetal cardiology is a rapidly evolving field. Imaging technology continues to advance as do approaches to in-utero interventions and care of the critically ill neonate, with even greater demand for improvement in prenatal diagnosis of congenital heart disease (CHD) and arrhythmias. Reviewing the advances in prenatal diagnosis of CHD in such a rapidly developing field is a broad topic. Therefore, we have chosen to focus this review of recent literature on challenges in prenatal detection of CHD, challenges in prenatal counseling, advances in fetal arrhythmia diagnosis, and potential benefits to patients with CHD who are identified prenatally. As methods and tools to diagnose and manage CHD and arrhythmias in utero continue to improve, future generations will hopefully see a reduction in both prenatal and neonatal morbidity and mortality. Prenatal diagnosis can and should be used to optimize location and timing of delivery and postnatal interventions.

Ventral Abdominal Wall Defects

Omphalocele and gastroschisis are the two most common congenital abdominal wall defects requiring neonatal intensive care. Historically treated as a single entity, they represent two distinct pathologies with different clinical management algorithms and associated outcomes. With improvements in prenatal diagnosis, neonatal intensive care, and pediatric surgical practices, good long-term outcomes are possible in the absence of catastrophic bowel injury or debilitating associated anomalies.

PF.05 Advances in Trisomy 21 Screening in the West Midlands, 1995–2011

BackgroundScreening for trisomy 21 (T21) in the West Midlands has evolved from double screening in 1995 to combined screening in 2011, with the perception of improved detection amongst the public...

Ultrasound and MRI Prenatal Diagnosis of Esophageal Atresia: Effect on Management

Ultrasound and MRI Prenatal Diagnosis of Esophageal Atresia: Effect on Management

Évolution du diagnostic anténatal des cardiopathies congénitales entre 1991 et 2005 dans une population limitée au département d’Indre-et-Loire

The value of prenatal diagnosis of major congenital heart diseases (CHDs) has already been proved. In this study, we observed the evolution of the detection rate of CHDs and the quality of the diagnoses over a 15-year period in the Indre-et-Loire department of France. Retrospective analysis of the quantitative and qualitative data of prenatal diagnosis between 2000 and 2005 (period 3) and comparison with studies conducted from 1991 to 1994 (period 1) and from 1995 to 1999 (period 2). The CHDs considered to be detectable are the major CHDs with neonatal symptoms. In order to analyze the quality of prenatal diagnosis, each diagnosis was classified as correct, false, or incomplete during period 3. Period 3: 65.7% detectable CHDs were screened. Using period 1 criteria for prenatal diagnosis, the percentage of CHDs detected for periods 1, 2, and 3 was 43.2, 66.7, and 78%, respectively. Between periods 2 and 3, the detection rate increased from 52 to 74% for CHDs diagnosed with the visualization of the outflow tract. It increased from 63 to 71% for CHDs diagnosed with a four-chamber view. During period 3, diagnoses made by a pediatric cardiologist were correct and complete in 80% of cases. It was less than 25% otherwise. The improvement of prenatal diagnosis over time results from technological progress, the greater experience of ultrasonographers, and the systematic visualization of the outflow tract in addition to the four-chamber view. Despite the improvement in prenatal diagnosis, one-third of major CHDs were not screened before birth. Pediatricians still need to diagnose CHDs after birth.

Évaluation d’une formation de proximité à la mesure de la clarté nucale et à l’autoévaluation des clichés

Improvement in prenatal diagnosis of Down syndrome imposes to sonographers to realize good quality nuchal translucency measurements, which can be used for assessment of combined risk. The aim of our study was to evaluate a training program of 109 sonographers for measuring nuchal translucency and scoring their own image.After a proximity training program, trainees submitted 20 images scored by themselves with Herman image-scoring method. All images were reviewed by two experts.One hundred and nine sonographers have accomplished the training program (87.3%), collecting 2162 images. After reviewing, the mean score was 6.8+/-1.8. The rate of inacceptable scan (score< or =3) was in 6.0%. On the other hand, 48.1% of scans were excellent (score> or =8). Only 6.5% of scores were discordant for at least three points between self-scoring and reviewing. After the fourth scan, there was no significant scoring difference between self-scoring and reviewing. Finally, 84% of trainees were very satisfied of this program.As part of HAS evaluation of practitioners practices, it is possible to realize proximity training program for measuring nuchal translucency. Learning curve seems to be fast. Good handling of Herman scoring method by sonographers allows their accreditation after this kind of training program.

Impact du dépistage anténatal des agénésies du corps calleux sur le devenir des grossesses. Étude de 155 dossiers de 2000 à 2006

The purpose of this study was to investigate the changes between 2000 and 2006 in pregnancy outcome when a diagnosis of either isolated or associated fetal corpus callosum agenesis (CCA) was made, given that beginning in 2003, the information provided to couples facing this problem related a good prognosis in nearly 80 % of cases of isolated CCA and a poor prognosis in 20 % of cases. We retrospectively analyzed all pregnancies with a fetal diagnosis of CCA between 2000 and 2006 (n=155) and compared two periods: the first group from 2000 to June 2003, the second from July 2003 to 2006. For each group, we analyzed the type of CCA during pregnancy - either isolated or associated - and the outcome of pregnancy. We compared the rate of pregnancy termination before and after 2003 and analyzed the accuracy of the prenatal CCA diagnosis. Of the 155 patients studied, 62 terminated the pregnancy. The overall rate of termination decreased from 31/70 to 31/85. When CCA was said to be isolated prenatally, the rate of pregnancy termination fell from 13/35 to 9/44 (-17 %) (p<0.05). Nine diagnoses of CCA were corrected after birth or by postmortem examination. Improvement of prenatal diagnosis requires better quality of prenatal screening, with a more systematic study of dysmorphic features, a study of correlations between the type of CCA and the neurological prognosis, and more genetic studies.

Current Status of Minimal Access Surgery (MAS) in the Field of Maternal-Fetal Medicine

Advances in medical imaging have led to an improvement in prenatal diagnosis of congenital anomalies. This has been made possible through the incorporation of new ultrasound technologies, use of doppler and real time imaging. These have resulted in improvement in resolution and quality of ultrasound images. Concurrent use l Magnetic Resonance Imaging (MRI) in fetal imaging has resulted in better definition of pathology and diagnosis in situation where ultrasound imaging turns to be inconclusive.1 Together with the accolades gained by medical science in the understanding of the pathophysiological basis of diseases, clinicians have never been better equipped in making accurate diagnosis and better positioned in counselling their patients regarding prognosis and options available for the fetal condition in question, as is the case now. Sir William Albert Liley is regarded as the ‘father of fetal medicine’. His successful intrauterine transfusion of fetus affected by Rhesus disease in New Zealand, in 1963, opened a multitude of possibilities and opportunities for fetal medicine specialists.2,3 This has been followed by different developments, animal studies and refining of skills. The Fetal treatment center at the University of California, San Francisco (UCSF), under the leadership of Michael Harrison (a pediatric surgeon by training), has been at the forefront of this development.4 This center has been in limelight for performing fetal open fetal surgery and later inversion of minimal fetal approach dubbed ‘FETENDO’ (use of small instruments and manipulating them inside the uterine cavity was viewed as similar to playing video games, hence the name). Other groups like the children’s hospital of Philadelphia (CHOP), and the fetal center at Leuven, etc joined suite.2 There are now few specialized centers in different countries dedicated to this cause. The end result has been research and refinement of skills as new knowledge is acquired.4-6 The observation that postnatal therapy was not the answer to all fetuses, has led to the emergence of fetal surgery over the last 30 years. The vision has been an attempt to salvage the few fetuses with conditions that are known to result in stillbirth if left untreated, arrest the pathophysiological process or reverse fetal damage that is not amenable to postnatal correction. Currently three approaches are available for intrauterine management of fetal conditions, open approach via hysterotomy or minimal access using endoscopy or Fetal Image Guided Surgery (FIGS).6 The latter approach is what is generally referred to as percutaneous approach. This procedure uses needles to access the fetus under ultrasound guidance. Fetal surgery has undergone evolution from the first successful intrauterine transfusion in New Zealand, hysterotomy for vascular access and intrauterine transfusion (Puerto Rico, 1964), diagnostic fetoscopy (Yale, 1974), Laser ablation of placental vessels (Milwaukee, London,1995) right to the use of amniotic collagen plug (Leuven, 2007) and sclerotherapy for congenital cystic adenomatous malformation (CCAM) performed in Venezuela in 2007. A comprehensive review of these milestones is well articulated in the article by Jancelewicz and Harrison.2 Abstract

P12.20: Improvement in prenatal diagnosis of fetal malformations by use of color Doppler

P12.20: Improvement in prenatal diagnosis of fetal malformations by use of color Doppler

Amniotic Band Syndrome of the Upper Extremity: Diagnosis and Management

Amniotic band syndrome, a condition involving fetal entrapment in strands of amniotic tissue, causes an array of deletions and deformations. Band formation most frequently affects the distal segments, including the hand. Because of the heterogeneous nature of expression of this disease, treatment is individualized. Timing of repair and surgical planning are important in improving functional outcome. In the patient with distal edema and acrosyndactyly, early repair portends better prognosis. Improvements in prenatal diagnosis and fetoscopic surgical technique may eventually allow treatment of amniotic band syndrome in utero.

Características de los neonatos con y sin arteria umbilical única. Análisis de dos series consecutivas de recién nacidos con y sin defectos congénitos

Background and objective The implications of the presence of a single umbilical artery (SUA) are unknown. Although most articles are based on selected samples, they suggest a relationship between SUA and malformations. Consequently, prenatal detection of SUA causes concern, since there are no definitive guidelines that can be followed after identification of this abnormality. The objective of this study was to comparatively analyze SUA in two series of consecutive births, with and without congenital defects. Patients and methods A total of 19,909 cases and 19,148 controls from the Registry of the Spanish Collaborative Study on Congenital Malformations were studied. The variables analyzed were sex, birth weight, length, occipito-frontal circumference, gestational age, prematurity, delivery by caesarean section, umbilical cord length, placental weight, survival at 72 hours, primiparity, oligohydramnios, and polyhydramnios. Calculations included relative frequency, odds ratios (OR) and 95 % confidence intervals, the chi-square test, Fisher's p-value, and Student's t-test. Results SUA was found in 2.29 % of cases and in 1.03 % of controls (p = 0.0000001). These figures showed secular variation due to improvements in prenatal diagnosis and interruption of some pregnancies. When cases with and without SUA were compared, those with SUA had lower values of somatometry at birth, umbilical cord length and gestational age and had a higher risk for oligohydramnios, polyhydramnios, caesarean section, and death in the first 72 hours. Among controls, the only differences were a shorter umbilical cord and a higher frequency of oligohydramnios among infants with SUA. Conclusions The results suggest that certain malformations associated with SUA could cause some of the differences among cases. Shortening of the umbilical cord and oligohydramnios could be related to SUA, as these abnormalities were found in both cases and controls. Comparison of cases and controls suggests that the etiopathogenesis of SUA could differ in the two groups.