Prenatal Diagnosis Of Congenital Defects Research Articles

Prenatal diagnosis of congenital anomalies and their outcome in Tribhuvan University Teaching Hospital

Prenatal diagnosis of congenital anomalies and their outcome in Tribhuvan University Teaching Hospital

Fetal face shape analysis from prenatal 3D ultrasound images

3D ultrasound imaging of fetal faces has been predominantly confined to qualitative assessment. Many genetic conditions evade diagnosis and identification could assist with parental counselling, pregnancy management and neonatal care planning. We describe a methodology to build a shape model of the third trimester fetal face from 3D ultrasound and show how it can objectively describe morphological features and gestational-age related changes of normal fetal faces. 135 fetal face 3D ultrasound volumes (117 appropriately grown, 18 growth-restricted) of 24-34 weeks gestation were included. A 3D surface model of each face was obtained using a semi-automatic segmentation workflow. Size normalisation and rescaling was performed using a growth model giving the average size at every gestation. The model demonstrated a similar growth rate to standard head circumference reference charts. A landmark-free morphometry model was estimated to characterize shape differences using non-linear deformations of an idealized template face. Advancing gestation is associated with widening/fullness of the cheeks, contraction of the chin and deepening of the eyes. Fetal growth restriction is associated with a smaller average facial size but no morphological differences. This model may eventually be used as a reference to assist in the prenatal diagnosis of congenital anomalies with characteristic facial dysmorphisms.

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.

Does a Nonreassuring Fetal Heart Rate Pattern Impair Renal Function in Neonates Prenatally Diagnosed with Congenital Anomalies of the Kidneys and Urinary Tract?

This study aimed to determine the effect of nonreassuring fetal heart rate (NRFHR) patterns in labor on the postnatal renal function of neonates with a prenatal diagnosis of congenital anomalies of the kidney and urinary tract (CAKUT). A retrospective cohort study was conducted in a single tertiary referral center between 2012 and 2020. All cases with a prenatal diagnosis of CAKUT were extracted, and their fetal, maternal, obstetrical, and neonatal characteristics were analyzed. Cases of multiple gestations, preterm delivery, small for gestational age, major associated malformations or genetic aberrations, and prelabor acute obstetrical events were excluded from the analysis. The study group was comprised of patients who experienced NRFHR during labor. The control groups included (1) patients who had a trial of labor with a normal fetal heart rate pattern and (2) patients who delivered by elective cesarean section (CS). The primary outcome was abnormal serum creatinine levels in the perinatal period. For statistical purposes, the CAKUT cases were classified into a low and high estimated risk for an abnormal postnatal renal outcome. A subgroup analysis of the results was performed accordingly. Two hundred and fifty-six fetuses diagnosed prenatally with CAKUT comprised the study group. Among these, 214 women (83%) opted for a labor trial, while 42 (17%) chose elective CS. Within the labor trial group, 21/214 patients (9.8%) experienced NRFHR during labor. Analysis of maternal and fetal characteristics revealed no statistically significant disparities between the groups. NRFHR patterns were not associated with a deterioration in neonatal serum creatinine compared with those with normal fetal monitoring or those born by an elective CS. NRFHR patterns during labor and delivery did not impair neonatal renal function status in fetuses diagnosed prenatally with low- and high-risk CAKUT. Delivery can be managed according to standard obstetrical guidelines. · Kidneys affected by CAKUT commonly display renal dysplasia and a reduction in nephron mass.. · Low Apgar scores and asphyxia are recognized as risk factors for perinatal acute kidney injury.. · Lack of research on NRFHR impact on perinatal renal function in prenatally diagnosed CAKUT.. · NRFHR patterns during labor did not impair neonatal renal function status in prediagnosed fetuses..

Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based study.

Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies. To examine changes in rates of prenatal diagnosis of congenital anomalies over time and by demographic characteristics. We undertook a population-based retrospective cohort study of all children born in Western Australia between 1980 and 2020 and diagnosed with a congenital anomaly. Age at diagnosis (prenatal, neonatal, infancy, early childhood or childhood) prevalence (all-type and type-specific), and prevalence ratios (PR) were calculated. We fit joinpoint regression models to describe the average annual percentage change (APC) in prenatal diagnosis over time, and log-binomial regression models to estimate the association between prenatal diagnosis and demographic characteristics. Prenatal diagnosis prevalence between the first (1980-1989: 28.3 per 10,000 births) and last (2005-2014: 156.1 per 10,000 births) decades of the study increased 5.5-fold (95% confidence interval [CI] 5.0, 5.9). Substantial increases were observed for cardiovascular (PR 10.7, 95% CI 8.0, 14.6), urogenital (PR 10.5, 95% CI: 8.7, 12.6) and chromosomal anomalies (PR 7.0, 95% CI 5.9, 8.3). Prenatal diagnosis was positively associated with the birth year (adjusted risk ratio [RR] 1.04, 95% CI 1.03, 1.04), advanced maternal age (RR 1.14, 95% CI 1.11, 1.18), multiple anomalies (RR 2.86, 95% CI 2.77, 2.96) and major anomalies (RR 3.75, 95% CI 3.36, 4.19), and inversely associated with remoteness (RR 0.89, 95% CI: 0.83, 0.95) and Aboriginality (RR 0.90, 95% CI 0.83, 0.97). Increases in prenatal diagnosis of congenital anomalies were observed in Western Australia from 1980 to 2020, reflecting advances in screening. Prenatal diagnosis was less common in remote regions and in Aboriginal children, strengthening calls for increased provision of antenatal care services for these populations.

Prenatal Diagnosis of Cleft and Craniofacial Conditions: An International Analysis of Practice Patterns.

Prenatal diagnosis of congenital anomalies is associated with increased parental stress. Surgical prenatal counseling for parents expecting a child with an orofacial cleft has been shown to reduce parental anxiety through education and expectation setting. Despite the prevalence and significance of these conditions throughout the world, little is known of international counseling practices as they pertain to clefts and other craniofacial conditions, specifically regarding topics of counseling and discussions of ethical issues including interruption of pregnancy (IOP).In this study, 50 members of the International Society of Craniofacial Surgery, representing 18 countries, were surveyed. The questionnaire included questions about the number of consultations performed, for which conditions, setting of practice, and regional regulations pertaining to IOP. The authors report that the most frequent topics of discussion included initial treatment of clefts (89%), future surgeries (89%), and speech/language difficulties (85%). North American surgeons more frequently discussed cleft appearance (100%) thansurgeons from Central/SouthAmerica (64%) or Europe (64%, P = 0.019). Overall, 46% of surgeons surveyed believe it is ethical to give parents their opinion on IOP when asked. European surgeons were more likely to report that parents want to receive information about IOP at prenatal consultations (82%), compared to 25% from North America and 8% from Central/South America ( P < 0.001). The authors conclude that despite a lack of standard guidelines on conducting prenatal counseling appointments for cleft and craniofacial conditions, discussion topics were similar across country, practice type, and surgeon experience.

Role of Fetal MRI in Prenatal Diagnosis of Congenital Anomalies

MRI has been increasingly used for detailed visualization of the fetus in utero as well as pregnancy structures. Yet, the familiarity of radiologists and clinicians with fetal MRI is still limited. This article provides a practical approach to fetal MR imaging. Fetal MRI is an interactive scanning of the moving fetus owed to the use of fast sequences. Single-shot fast spin-echo (SSFSE) T2-weighted imaging is a standard sequence. T1-weighted sequences are primarily used to demonstrate fat, calcification and hemorrhage. Balanced steady-state free-precession (SSFP), are beneficial in demonstrating fetal structures as the heart and vessels. Diffusion weighted imaging (DWI), MR spectroscopy (MRS), and diffusion tensor imaging (DTI) have potential applications in fetal imaging. Knowing the developing fetal MR anatomy is essential to detect abnormalities. MR evaluation of the developing fetal brain should include recognition of the multilayered-appearance of the cerebral parenchyma, knowledge of the timing of sulci appearance, myelination and changes in ventricular size. With advanced gestation, fetal organs as lungs and kidneys show significant changes in volume and T2-signal. Through a systematic approach, the normal anatomy of the developing fetus is shown to contrast with a wide spectrum of fetal disorders. The abnormalities displayed are graded in severity from simple common lesions to more complex rare cases. Complete fetal MRI is fulfilled by careful evaluation of the placenta, umbilical cord and amniotic cavity. Accurate interpretation of fetal MRI can provide valuable information that helps prenatal counseling, facilitate management decisions, guide therapy, and support research studies.

Long-term follow-up of premature infants with urinary tract infection

Urinary tract infection (UTI) is common in preterm infants and may have long-term sequela, such as recurrent infections and renal scarring in older children. We assessed long-term outcomes of preterm infants with UTI, born during 1996-2008 in Schneider Children's Medical Center's neonatal intensive care unit (NICU), and incidence of UTI recurrence. Of 89 preterm infants, seven were excluded due to prenatal diagnosis of congenital anomalies of the kidney and urinary tract (CAKUT), 41 interviewed by phone, 18 presented for follow-up evaluation in the nephrology clinic, and 23 lost to follow-up. No patient who completed follow-up reported additional UTI episodes or issues related to kidney and urinary tract. Clinically evaluated participants were 17.1 ± 3.6 years, born prematurely at 29.4 ± 4 weeks. All had a normal estimated glomerular filtration rate of >90 ml/min/1.73m2; four (22%) had systolic blood pressure >90th percentile; none had proteinuria (mean protein/creatinine ratio 0.09 ± 0.04 mg/mg) or albuminuria (mean albumin/creatinine ratio 10.2 ± 6.3 mcg/mg). Renal ultrasonography done in the first years of life in 12 (66%) patients demonstrated normal kidney size and structure.Conclusion: In this pilot study, a single episode of UTI in premature infants without CAKUT did not constitute a risk factor for recurrence of infections or kidney injury in their first two decades of life. Thus, normal ultrasound in NICU excluding CAKUT may be sufficient for premature patients with UTI, with no need of further imaging or long-term nephrology follow-up. What is Known: • Urinary tract infection (UTI) is one of the most common bacterial infections in neonates and premature infants. Risk factors for UTI recurrence in children are congenital anomalies of the kidney and urinary tract (CAKUT) and bladder and bowel dysfunction. • The recurrence rate and long-term renal sequela of UTI in preterm infants have not been studied. Guidelines regarding management and long-term follow-up for infants less than 2 months old are lacking. What is New: • A single episode of UTI in premature infants without CAKUT probably does not constitute a risk factor for UTI recurrence, and it is unlikely to cause renal injury in the first two decades of life. • For premature infants with UTI without sonographic diagnosis of CAKUT in NICU, prophylactic antibiotic treatment, further imaging, or long-term nephrology follow-up may be unnecessary.

Prenatal Diagnosis of Birth Defects by Exome Sequencing

Prenatal screening and diagnosis are increasingly becoming a part of medical practice. Prenatal screening can reduce the incidence of birth defects which cause morbidity and mortality in newborns. With emerging technologies, now it is possible to diagnose the genetic basis of birth defects more accurately in the prenatal period for early management. Different approaches are available for detecting genetic defects at different levels like karyotyping, chromosomal microarrays and Sanger sequencing. However, many cases still remain undiagnosed. Next generation sequencing has revolutionized the field of genetics that can detect genetic defects at the level of a single base pair. It includes both whole exome sequencing (WES) and whole genome sequencing (WGS). WES has particularly accelerated the discovery of disease-causing variants in many monogenic anomalies postnatally. Research is being conducted on the use of whole exome sequencing in the prenatal diagnostics of genetic anomalies detected by ultrasound. It is a more efficient way of getting an insight into the molecular basis of birth defects compared with conventional genetic approaches. However, technical and ethical issues need to be addressed before introducing this technique into routine prenatal clinical practice. Fetal cell sampling is done by invasive medical procedures like amniocentesis or chorionic villus sampling. However, noninvasive strategy of collecting fetal DNA from maternal plasma is an exciting and emerging domain. It is evident that in the coming years, we shall be able to use these techniques in the routine clinical setting and to improve the diagnosis and management of birth disorders during prenatal period.

Perinatal health predictors using artificial intelligence: A review.

Advances in public health and medical care have enabled better pregnancy and birth outcomes. The rates of perinatal health indicators such as maternal mortality and morbidity; fetal, neonatal, and infant mortality; low birthweight; and preterm birth have reduced over time. However, they are still a public health concern, and considerable disparities exist within and between countries. For perinatal researchers who are engaged in unraveling the tangled web of causation for maternal and child health outcomes and for clinicians involved in the care of pregnant women and infants, artificial intelligence offers novel approaches to prediction modeling, diagnosis, early detection, and monitoring in perinatal health. Machine learning, a commonly used artificial intelligence method, has been used to predict preterm birth, birthweight, preeclampsia, mortality, hypertensive disorders, and postpartum depression. Real-time electronic health recording and predictive modeling using artificial intelligence have found early success in fetal monitoring and monitoring of women with gestational diabetes especially in low-resource settings. Artificial intelligence–based methodologies have the potential to improve prenatal diagnosis of birth defects and outcomes in assisted reproductive technology too. In this scenario, we envision artificial intelligence for perinatal research to be based on three goals: (1) availability of population-representative, routine clinical data (rich multimodal data of large sample size) for perinatal research; (2) modification and application of current state-of-the-art artificial intelligence for prediction and classification in health care research to the field of perinatal health; and (3) development of methods for explaining the decision-making processes of artificial intelligence models for perinatal health indicators. Achieving these three goals via a multidisciplinary approach to the development of artificial intelligence tools will enable trust in these tools and advance research, clinical practice, and policies to ensure optimal perinatal health.

MODERN APPROACHES FOR THE DIAGNOSTICS AND TREATMENT OF NEWBORNS WITH ANORECTAL ATRESIAS (LITERARY DATA AND OWN EXPERIENCE)

Summary. The article is devoted to the problem of anorectal atresias in newborns, which are widespread and ranked first among the causes of disability in children. Based on the results of literature and our own experience, modern approaches to the diagnosis and treatment of congenital anomalies in newborns are presented. The 37 article presents epidemiology, modern views on diagnostics and treatment of main pathology and its complications in newborns. The necessity of improvement and wide introduction of prenatal diagnostics of anorectal atresias as an effective non-invasive method of early diagnostics of pathology is substantiated. The necessity of introduction of a complex of preventive measures at dirth defects, support of modern medical strategies and application of technically advanced methods of correction of a defect are emphasized. Generalization of own experience and modern approaches to the diagnosis, treatment and prevention of birth defects in newborns will be of great theoretical and practical importance for pediatric surgeries who are engaged in the issues of early detection of congenital malformations and their treatment, and to facilitate the coordination of specialists' efforts in improving the effectiveness of prenatal diagnosis of congenital anomalies and reducing lethality

Prenatal diagnosis of congenital anomalies of genito-urinary system on fetal magnetic resonance imaging

BackgroundThe aim of this study is to elucidate the spectrum of commonly encountered anomalies affecting fetal genito-urinary system (GUS) on fetal MRI and examine its utility in providing better morphological information resulting in improved diagnostic accuracy and in detecting additional malformations. The study also aims to highlight the promising role of fetal MRI in the detection and characterization of renal fusion anomalies like the horseshoe kidney or developmental abnormalities such as renal agenesis/ectopia.ResultsThe mean age of study participants was 29 years ± 3 years. The gestation age of pregnant mothers ranged from 18 weeks and 1 day to 39 weeks and 0 day. Amniotic fluid was reduced or absent in 41% (N = 13) and normal in 59% (N = 18) of participating mothers. Overall, urinary obstruction was the commonest anomaly encountered (29%) followed by the multicystic dysplastic kidney (MCDK) (22%). Bilateral renal disease was seen in all mothers having features of anhydramnios {B/L MCDK (N = 3), autosomal recessive polycystic kidney disease (ARPKD) (N = 2), posterior urethral valves (PUV) (N = 2), B/L renal agenesis (N = 3), and megacystis (N = 1)}. Fusion anomalies (horseshoe kidney) and rotation anomaly (malrotation) were detected in one case each. Additional extrarenal findings were seen on fetal MRI in 35% (N = 11) cases.ConclusionsFetal MRI improves diagnostic accuracy in anomalies affecting the fetal kidney and genito-urinary systems by better morphological delineation. It has the ability to detect additional extra-renal malformations and perform a more accurate assessment of associated pulmonary hypoplasia. The diffusion-weighted sequence is particularly useful in confirming the diagnosis of renal agenesis/ectopia.

Prenatal diagnosis of congenital anomalies in the era of fetal surgery in Mexico

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Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China.

The aim of this study was to analyse the characteristics of the prenatal diagnosis (PD) of birth defects (BDs) and termination of pregnancy (TOP) for fetal anomalies and to suggest perinatal management. BD surveillance data were collected from 52 registered hospitals in Hunan between 2015 and 2018. The PD and TOP rates of BDs were calculated to examine the associations between infant sex, maternal age, and region. From 2015 to 2018, a total of 18 931 fetuses with BDs were identified, of which 10 299 fetuses (54.4%) were diagnosed prenatally and 9343 pregnancies (90.7% among PDs and 49.3% among BDs) were terminated. The mean gestational age at diagnosis for fetuses with BDs was 25.1 ± 5.9 weeks and showed a downward trend over the study period. The average PD rate of the BDs was higher in rural areas than in urban areas (58.1% vs 50.3%), higher for female than male fetuses (57.25% vs 48.92%), and higher for mothers older than age 35 than for those younger (58.62% vs 53.69%). The average TOP rate of fetuses with BDs in rural areas was higher than that in urban areas (91.99% vs 89.12%) and decreased with increasing maternal age ( = 7.926, P = .005). The five BDs with the highest PD rates were conjoined twins (100%), anencephaly (97.87%), congenital hydrocephalus (97.66%), chromosomal malformation (96.07%), and encephalocele (95.54%). The five BDs with the highest TOP rates among the PDs were conjoined twins (100%), exstrophy of the urinary bladder (100%), chromosomal malformation (98.09%), encephalocele (98%), and anencephaly (97.28%). More than half of BDs were diagnosed prenatally, with the majority diagnosed at less than 28 gestational weeks. The TOP rates following PD in Hunan Province were high, especially for rural and younger mothers. The findings suggest a need for high-quality, targeted counselling following PD.

A 10-year retrospective study on prenatal cytogenetic analyses

Objective: To analyze the indications and results of prenatal cytogenetic screening in patients from a specialized center in Xiamen City, China, to provide a reference database for prenatal diagnosis. Materials and Methods: This retrospective, observational study included 7,400 pregnant women who underwent chorionic villous sampling (CVS), amniocentesis or cordocentesis at the Women and Children's Hospital, School of Medicine, Xiamen University, China, over a 10-year period (2008-2018). Clinical data and the results of the cytogenetic analysis were assessed. Results: Fetal chromosomal aberrations were observed in 335 of 7, 400 (4.5%) cases, with trisomy 21 the most common aberration (87/335, 26%). A high risk on maternal serum screening was the indication for cytogenetic analysis in 36 of the 87 fetuses with trisomy 21 (41.4%). Abnormal fetal ultrasonographic findings were the clinical indication for cytogenetic testing in more than half of fetuses with abnormal karyotypes (181/335, 54%). Conclusions: Prenatal cytogenetic analysis is useful for the prenatal diagnosis of birth defects in Xiamen City, and may prevent termination of potentially healthy fetuses.

Trends in resource use and effectiveness of ultrasound detection of fetal structural anomalies in France: a multiple registry-based study

ObjectiveTo analyse trends in the number of ultrasound examinations in relation to the effectiveness of prenatal detection of birth defects using population-based data in France.DesignA multiple registry-based study of time...

OP23.11: The value of prenatal diagnosis of birth defects in Tibet an autonomous region by standardised prenatal ultrasound screen training

OP23.11: The value of prenatal diagnosis of birth defects in Tibet an autonomous region by standardised prenatal ultrasound screen training

超声诊断对出生缺陷产前诊断的应用程度以及效果分析

超声诊断对出生缺陷产前诊断的应用程度以及效果分析

Application of Ultrasound in Prenatal Diagnosis of Birth Defects

Application of Ultrasound in Prenatal Diagnosis of Birth Defects

Role of ultrasound in diagnosis of fetal congenital abdominal anomalies: One year prospective study

Introduction: Congenital anomalies are important cause of perinatal and infant mortality, and are contributor to childhood morbidity. Fetal congenital abdominal anomalies are one of the most common anomalies. Ultrasound screening of fetus helps to identify these anomalies as early as possible in antenatal period and thus provides information for proper decisions during pregnancy. Aim: To find out the incidence of congenital abdominal anomalies affecting fetus and to study the outcome in patients with fetal congenital abdominal anomalies by following them postnatally. Material and Methods: Prospective, Observational and Non-interventional study. Ultrasound screening of 5761 fetuses were performed. Pregnancies, with ultrasound findings of fetal congenital abdominal anomalies with or without other associated anomalies, were followed up. Postnatal confirmation of anomalies were carried out by clinical examination/ imaging procedures / autopsy. Results: Incidence of fetal congenital abdominal anomalies was 5.56 per 1000 births. Among the fetal congenital abdominal anomalies, fetal urinary tract anomalies were the most common with an incidence of 4.69 per 1000 births. Incidence of Omphalocele, Gastroschisis and Jejunoileal atresia were 5.2, 1.7 and 1.7 per 10,000 births respectively. Concordance between antenatal and postnatal diagnosis was 90.63%. Conclusion: Antenatal ultrasound examination should be performed for all pregnant women to diagnose congenital anomalies. Prenatal diagnosis of congenital anomalies provides information for proper decisions during pregnancy, fetal intervention if available and appropriate treatment perinatally, thus improves perinatal and long term outcomes.