Prenatal Diagnosis Research Articles

Lasix for the prevention of de novo postpartum hypertension: A randomized placebo-controlled trial (LAPP Trial)

Birthing people with de novo postpartum hypertensive disorders remain among the highest risk for severe maternal morbidity. Randomized controlled trials demonstrate a benefit to oral loop-diuretics in decreasing postpartum hypertensive morbidity in patients with an antenatal diagnosis of preeclampsia. It is not known whether this same therapy benefits patients at risk for new-onset postpartum hypertension OBJECTIVE: To evaluate whether oral furosemide can reduce risk for de novo postpartum hypertension (dnPPHTN) among high-risk birthing people by reducing post-delivery blood pressure. From October 2021 to April 2022, we conducted a randomized triple-masked placebo-controlled clinical trial of individuals at high risk for dnPPHTN at a single university-based tertiary care medical center. A total of 82 postpartum patients with no antenatal diagnosis of chronic hypertension or a hypertensive disorder of pregnancy who were at high-risk for the development of dnPPHTN based on a pre-specified risk factor algorithm were enrolled after childbirth. The participants were randomly assigned in a 1:1 ratio to a five-day course of oral furosemide 20 mg daily or identical-appearing placebo starting within eight hours of delivery. Participants were followed for 6 weeks postpartum using Bluetooth-enabled remote blood pressure monitoring and electronic surveys. The primary outcome was the difference in mean arterial pressure (MAP) averaged over the 24 hours prior to discharge or the 24 hours prior to antihypertensive therapy initiation. The study was powered to detect a 5 mmHg difference in mean MAP (standard deviation 6.4 mmHg) with 90% power at an alpha of 0.05, requiring a sample size of 41 per group. Secondary outcomes included the rate of dnPPHTN, readmission data, other measures of hypertensive and maternal morbidity, breastfeeding data, and drug-related neonatal outcomes. The primary outcome was assessed in 80 of the 82 participants. Baseline characteristics were similar between groups. There was no significant difference in mean MAP 24 hours prior to discharge (or antihypertensive initiation) in the furosemide group (88.9 ± 7.4 mmHg) compared to the placebo group (86.8 ± 7.1 mmHg; absolute difference 2.1 mmHg, 95% CI -1.2 to 5.3). Of the 79 participants for whom secondary outcomes were assessed, 10% (n=8) developed dnPPHTN and 9% (n=7) were initiated on antihypertensive therapy. Rates were not significantly different between groups. De novo postpartum hypertension is a common phenomenon among at-risk patients, warranting close monitoring for severe hypertension and other maternal morbidity. There is insufficient evidence to suggest that furosemide reduces mean MAP in the 24 hours prior to discharge from the delivery hospitalization (or antihypertensive medication initiation) compared to placebo.

Validity of a Delphi consensus definition of growth restriction in the newborn for identifying neonatal morbidity

BackgroundSmall-for-gestational age (SGA) is defined as a birthweight below a birthweight-percentile threshold, usually the 10th percentile, with the 3rd or 5th percentile used to identify severe SGA. SGA is used as a proxy for growth restriction in the newborn, but SGA newborns can be physiologically small and healthy. This definition also excludes growth restricted newborns who have weights above the 10th percentile. To address these limits, a Delphi study developed a new consensus definition of growth restriction in the newborn based on neonatal anthropometric and clinical parameters, but it has not been evaluated. ObjectivesTo assess the prevalence of growth restriction in the newborn according to the Delphi consensus definition and to investigate associated morbidity risks compared to definitions of SGA using birthweight-percentile thresholds. Study designData come from the 2016 and 2021 French National Perinatal Surveys which include all births ≥22 weeks and/or with birthweights ≥500 grams in all maternity units in France over a one-week period. Data are collected from medical records and interviews with mothers after the delivery. The study population included 23,897 liveborn singleton births. The Delphi consensus definition of growth restriction was birthweight <3rd percentile or at least 3 of the following criteria: birthweight, head circumference or length <10th percentile, antenatal diagnosis of growth restriction or maternal hypertension. A composite of neonatal morbidity at birth, defined as five-minute Apgar score <7, cord arterial pH <7.10, resuscitation and/or neonatal admission, was compared using the Delphi definition and usual birthweight-percentile thresholds for defining SGA using the following birthweight percentile groups: <3rd, 3rd-4th and 5th-9th percentiles. Relative risks were adjusted (aRR) for maternal characteristics (age, parity, body mass index, smoking, educational level, pre-existing hypertension and diabetes, and study year) and then for the consensus definition and birthweight percentile groups. Multiple imputation by chained equations was used to impute missing data. Analyses were carried out in the overall sample and among term and preterm newborns separately. Results4.9% (95% confidence intervals (CI): 4.6-5.2) of newborns were identified with growth restriction, of whom 29.7% experienced morbidity, yielding a aRR of 2.5 (95% CI: 2.2-2.7) compared to newborns without growth restriction. Compared to birthweight ≥10th percentile, morbidity risks were higher for low birthweight percentiles (<3rd aRR=3.3 (95%CI: 3.0-3.7), 3rd-4th RR=1.4 (95%CI:1.1-1.7), 5th-9th RR=1.4, (95%CI:1.2-1.6)). In adjusted models including the definition of growth restriction and birthweight percentile groups and excluding birthweights <3rd percentile, which are included in both definitions, morbidity risks remained higher for birthweights at the 3rd-4th percentile (aRR=1.4, 95% CI: 1.1-1.7) and 5th-9th percentile (aRR= 1.4, 95%CI: 1.2-1.6), but not for the Delphi definition of growth restriction (aRR= 0.9, 95%CI: 0.7-1.2). Similar patterns were found for term and preterm newborns. ConclusionThe Delphi consensus definition of growth restriction did not identify more newborns with morbidity than definitions of SGA based on birthweight percentiles. These findings illustrate the importance of evaluating the results of Delphi consensus studies before their adoption in clinical practice.

A rare case of severe congenital diaphragmatic hernia

Background. Diaphragmatic hernia is a complex congenital anomaly, often associated with other structural defects with lethal potential. Congenital diaphragmatic hernia (CHD) often causes a chain of multiple complications since intrauterine development, the most frequent of which is pulmonary hypoplasia complicated, in turn, by the installation of persistent pulmonary hypertension in the newborn after birth. Although the medical and surgical management of CDH has improved considerably, morbidity and mortality rates remain high. Case report. We presented the case of a newborn diagnosed with a massive Bochdalek-type left diaphragmatic hernia, with the ascension into the thoracic cavity of the intestine, spleen, stomach, left lobe of the liver, the antenatal diagnosis was established one month before birth, with fatal evolution within 48 hours of at birth despite the intensive support applied. Conclusions. The presented case is a very rare case of severe CHD with a fatal outcome mainly due to the wide diaphragmatic defect that allowed the thoracic ascension of the spleen, stomach, intestinal loops, and the right liver lobe associated with hypo/aplasia of the left lung, severe displacement and compression of the heart and severe pulmonary hypertension.

Prenatal diagnosis of X-linked craniofrontonasal dysplasia: Case report

Introducción: La displasia craneofrontonasal (DCFN), es un trastorno malformativo poco frecuente que afecta fundamentalmente los ojos, la nariz y la frente. De todos ellos, el hipertelorismo es el componente principal e invariable. Ocurre esporádicamente en la mayoría de los casos. En la literatura se han informado sólo unos pocos casos diagnosticados antes del nacimiento. Objetivo: Describir un caso diagnosticado prenatalmente de displasia craneofrontonasal ligada al cromosoma X. Presentación de caso: Gestante de 21 años con evaluación inicial de riesgo genético incrementado de enfermedad hereditaria por antecedente personal y familiar de DCFN. Con 24 semanas de embarazo se realiza ecografía en el Centro Provincial de Genética Médica de Mayabeque- Cuba, consulta de confirmaciones que describió anomalías faciales en feto femenino con hipertelorismo, puente nasal amplio y boca entreabierta mantenida durante todo el estudio. No se reportaron hendiduras faciales ni otros defectos asociados. Se ofreció asesoramiento genético. Atendiendo a los antecedentes obtenidos, la valoración del árbol genealógico confeccionado y los hallazgos ecográficos reportados se concluyó que podía corresponder con un feto afectado por DCFN. La pareja solicitó la terminación voluntaria del embarazo. La necropsia fetal confirmó el diagnóstico de DCFN. Conclusiones: Para realizar el diagnóstico prenatal de DCFN, el fenotipado ecográfico fetal, el análisis de la historia familiar y de los hallazgos anatomopatológicos son la clave de un asesoramiento genético personalizado que permita a la pareja la opción reproductiva que considere más apropiada.

Prenatal Diagnosis of Congenital Heart Disease: The Crucial Role of Perinatal and Delivery Planning.

Although most congenital heart defects (CHDs) are asymptomatic at birth, certain CHD lesions are at significant risk of severe hemodynamic instability and death if emergent cardiac interventions are not performed in a timely fashion. Therefore, accurate identification of at-risk fetuses and appropriate delivery resource planning according to the degree of anticipated hemodynamic instability is crucial. Fetal echocardiography has increased prenatal CHD detection in recent years due to advancements in ultrasound techniques and improved obstetrical cardiac screening protocols, enabling the prediction of newborns' hemodynamic status. This assessment can guide multidisciplinary resource planning for postnatal care, including selection of delivery site, delivery room management, and transport to a cardiac center based on CHD risk severity. This review will discuss fetal cardiovascular physiology and the circulatory changes that occur at the time of and immediately following birth, outline fetal echocardiographic findings used to risk-stratify newborns with CHDs, and outline principles for neonatal resuscitation and initial transitional care in neonates with these complex CHD lesions.

Use of polygenic and clinical risk scores in wide spectrum congenital heart malformations: a diagnostic and therapeutic perspective

Worldwide, congenital heart defects (CHDs) are a leading cause of mortality and morbidity. Globally, the annual prevalence rate of CHDs is about 1.5 million. It is one of the most common life-threatening congenital malformations, with a visible difference between high-income countries (HICs) and developing countries. This difference may be attributed to the diagnostic facilities and interventions.1 Moreover, the use of genetic and clinical risk scores is less studied in this field compared to other diagnostic and therapeutic approaches. Thus, we comprehensively review the available literature on adult and pediatric syndromic or non-syndromic CHDs and propose limitations and future directions in this field. Risk factors for this fatal disease include genetic and environmental factors.2,3 Risk stratification based on prenatal diagnosis with genetic counseling has shown better clinical outcomes. The modified World Health Organization (mWHO) guidelines are among the first proposed for risk stratification based on clinical scores.4 The combination of polygenic risk scores (PRS) and clinical risk evaluation has been adopted in various populations as better diagnostic and therapeutic approaches for various diseases, including coronary artery disease,5 diabetes,6 obesity,7 and cancers.8,9 However, unlike these diseases, polygenic risk scores are rarely used for the genetic diagnosis of CHD patients. The clinical utility of polygenic risk scores for CHDs is still in the early stages and requires validation studies in different cohorts. Incorporating PRS into the clinical setting may improve CHD diagnosis and therapeutic strategies.10 Recently, an initial attempt was made to determine the clinical utility of polygenic risk scores in a large dataset of the European cohort. Data from this study suggested a high potential for PRS in distinguishing between clinical phenotypes (mild, moderate, and severe) of congenital heart malformations.11 Furthermore, this hypothesis was tested in patients with transposition of the great arteries (TGA) to assess the utility of risk stratification after arterial switch operation. The cumulative risk score was computed for single nucleotide polymorphisms (SNPs) that reached the threshold statistical significance of p&lt;1×10−5 in the initial analysis. Combined clinical and polygenic risk scores showed improved risk stratification in mild, moderate, and severe TGA phenotypes.12 Similarly, in another European cohort, the risk allele frequency was higher in the diseased group compared to the control group. However, statistical analysis suggested a non-significant association with p&gt;0.05. Interestingly, combined risk scores constructed for selected SNPs showed a significant association with the disease with a p-value of 0.002. This evidence further supports the hypothesis that the cumulative effect of polymorphisms has better diagnostic and therapeutic efficacy than individual SNPs.13 There are certain limitations to its clinical use. Firstly, social stigma and lack of awareness regarding this disease are major hurdles. Secondly, there is a need to recruit a large number of samples from different populations to validate the clinical utility of PRS. Additionally, a lack of resources in developing countries also contributes to fatal outcomes. We recommend conducting large cohort studies in different ethnic groups to predict better risk associations, develop better therapeutic strategies, and formulate management guidelines.

Ensemble-based advancements in maternal fetal plane and brain plane classification for enhanced prenatal diagnosis

Ensemble-based advancements in maternal fetal plane and brain plane classification for enhanced prenatal diagnosis

Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019.

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies. There were 11 cases ascertained with prenatal findings including facial anomalies: one each with left cleft lip, right microtia, and bilateral microphthalmia. Two cases had vertebral anomalies. In addition, anomalies of the kidneys, brain, heart, and radial ray were identified. Six (55%) had a single umbilical artery, five (45%) were small for gestational age, and three (27%) were from a twin pregnancy that were discordant for anomalies. Four (36%) overlapped another proposed recurrent constellations of embryonic malformation condition. This study describes prenatal findings for 11 cases with CFM. Comparable to prior published cases, there were recurring anomalies on prenatal imaging, including anomalies of the brain, eye, heart, kidneys, and radial ray, which may aid in the prenatal diagnosis of CFM.

Management and Therapeutic Strategies for Spinal Muscular Atrophy

Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA.

Genotype-phenotype correlation and mutation spectrum of HBB gene in the Hatay province of Turkey

Purpose: Thalassemia carriage and hemoglobinopathies are quite common disorders in Turkey, especially in the Çukurova region, including Hatay province. Due to the high case population and genetic diversity in our region, this study aimed to investigate the genotype-phenotype correlation in the HBB gene.&#x0D; Materials and Methods: The data of patients who applied to Hatay Mustafa Kemal University Medical Genetics or Hematology Clinic between January 2010 and November 2022 were evaluated retrospectively.&#x0D; Results: A total of 40 (100%) cases, comprising 25 (62.5%) homozygous and 15 (37.5%) compound heterozygous genotypes, were included in the study based on the mutation profiles in the HBB gene. In the analysis of the cases, it was seen that there were 17 different variants and 22 distinct genotypes. The three most common variants identified in this study were IVS-I-6 (T&gt;C), IVS-I-1 (G&gt;A), and IVS-II-848 (C&gt;A). Of the cases with homozygous genotypes, 13 (52%) had the IVS-I-6 (T&gt;C) variant. The most frequent genotypes observed in cases with compound heterozygous genotype were IVS-I-6 (T&gt;C)/IVS-I-110 (G&gt;A), IVS-I-6 (T&gt;C)/Hb Knossos, and IVS-I-110 (G&gt;A)/-101 C&gt;T, each in 2 (13%) cases.&#x0D; Conclusion: This study provides information on the phenotypic characteristics of very rare genotypes. We think that this information will be very beneficial, especially for clinicians interested in prenatal diagnosis, preimplantation genetic diagnosis, and postnatal genetic counseling.

A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples.

The aim of this study is to investigate the application performance of rapid copy number variation sequencing (rCNV-seq) technology for the detection of chromosomal abnormalities during prenatal diagnosis. Samples were collected from 424 pregnant women who were at high-risk for noninvasive prenatal screening in Kunming Maternal and Child Care Hospital from January 2018 to May 2022. rCNV-seq technique was used to detect fetal chromosome abnormalities and compare the results with that of chromosomal karyotype analysis. The Result showed that 330 (77.83%, 330/424) cases indicated chromosomal abnormalities among 424 high-risk pregnant women who underwent rCNV-seq. Moreover, 94 (22.17%, 94/424) cases were discovered to have copy number variations. Among the 330 fetuses with chromosomal abnormalities, common autosomal aneuploidy was observed in 203 cases (47.87%, 203/424) and sex chromosome aneuploidy was observed in 91 cases (21.46%, 91/424). Moreover, the abnormalities in multiple chromosomes were discovered in 33 cases (7.78%, 33/424), and the rare autosomal aneuploidy was observed in 3 cases (0.71%, 3/424). There were 63 fetuses (14.86%, 63/424) with pathogenic CNVs among the 94 fetuses with variable copy numbers. Of the 245 pregnant women who voluntarily selected G-band karyotyping, 1 fetus with copy number variation had normal karyotype results, and the remaining women were consistent with rCNV-seq. Our study revealed that rCNV-seq has higher accuracy in detecting common trisomy and can also detect chromosomal microdeletions or microduplications that cannot be detected by G-banding karyotype analysis. There is no effective treatment for chromosomal diseases, so it is particularly important to prevent chromosomal diseases through genetic counseling and prenatal diagnosis of chromosomal diseases.

A novel homozygous missense mutation in the RPE65 gene in an Iranian family with retinitis pigmentosa

Hereditary retinal dystrophies such as retinitis pigmentosa (RP) are genetically and phenotypically heterogeneous and result in total blindness. One of the key genes causing RP is RPE65. In 2017, a gene therapy drug, voretigene neparvovec-rzyl, for RP associated with RPE65 mutations, received Food and Drug Administration approval. So, identification of RPE65 gene mutations in affected patients which may be amenable to genetic treatment is critical. Here, we examine three related Iranian patients with RP which have not been previously described in the population. Whole exome sequencing (WES) using next-generation Illumina sequencing was utilized to identify the disease-causing mutation in the proband. Subsequently, Sanger sequencing was performed to confirm the identified mutation in the patients and their family members. Finally, the possible effect of the reported mutation on the target protein was also evaluated using bioinformatics tools. WES identified a novel homozygous missense mutation c.T170C: p.F57S in exon 3 of the RPE65 gene. Sanger sequencing confirmed the mutation found in the patients and their healthy family members. This mutation segregated with the autosomal recessive inheritance pattern of RP disorder. Furthermore, the pathogenic nature of the identified mutation was confirmed by in silico approaches and genotype-phenotype correlation analysis. Our findings revealed a novel missense mutation c.T170C: p.F57S in the RPE65 gene and could expand the pathogenic mutations spectrum of the RPE65 gene. Additionally, such studies can aid to conduct genetic counseling, prenatal diagnosis, clinical management and even genetic treatment more accurately for all affected patients with RPE65 gene mutations.

A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease.

PKD1, which has a relatively high mutation rate, is highly polymorphic, and the role of PKD1 is incompletely defined. In the current study, in order to determine the molecular etiology of a family with autosomal dominant polycystic kidney disease, the pathogenicity of an frameshift mutation in the PKD1 gene, c.9484delC, was evaluated. The family clinical data were collected. Whole exome sequencing analysis determined the level of this mutation in the proband's PKD1, and Sanger sequencing and bioinformatics analysis were performed. SIFT, Polyphen2, and MutationTaster were used to evaluate the conservation of the gene and pathogenicity of the identified mutations. SWISS-MODEL was used to predict and map the protein structure of PKD1 and mutant neonate proteins. A novel c.9484delC (p.Arg3162Alafs*154) mutation of the PKD1 gene was identified by whole exome sequencing in the proband, which was confirmed by Sanger sequencing in his sister (II7). The same mutation was not detected in the healthy pedigree members. Random screening of 100 normal and end-stage renal disease patients did not identify the c.9484delC mutation. Bioinformatics analysis suggested that the mutation caused the 3162 nd amino acid substitution of arginine by alanine and a shift in the termination codon. As a result, the protein sequence was shortened from 4302 amino acids to 3314 amino acids, the protein structure was greatly changed, and the PLAT/LH2 domain was destroyed. Clustal analysis indicated that the altered amino acids were highly conserved in mammals. A novel mutation in the PKD1 gene has been identified in an affected Chinese family. The mutation is probably responsible for a range of clinical manifestations for which reliable prenatal diagnosis and genetic counseling may be provided.

More effective diagnostic methods for the early evaluation of congenital heart disease: A systematic review

Objectives: To evaluate which diagnostic methods are most effective for the early assessment of possible cardiac anomalies in utero and in the neonatal period, with the aim of analyzing the impact of tests performed during prenatal care and correlating early diagnosis with the risk of infant mortality. Method: a systematic review was carried out using the Science and Pubmed platforms in the period between 2012 and 2022, where 'newborns' OR 'premature infants' AND 'congenital heart disease' OR 'congenital heart defects' OR 'congenital heart defects' were used in the search” OR “baby's heart” AND “early diagnosis” OR “prenatal diagnosis”. Successively, the articles found were selected according to the previously determined inclusion and exclusion criteria to suit the type of research. Results: after analyzing 97 articles, 23 were in the same parameters and were considered in the study, addressing exams such as ultrasound, nuchal translucency, fetal echocardiogram, genetic tests, pulse oximetry, cardiovascular physical examination and echocardiographic reassessment. Conclusion: given the assumption, it was found that prior identification of the pathological change results in a more improved and prepared therapeutic plan and better psychological acceptance by parents. Therefore, the importance of disseminating the various methods available and how to perform them correctly is justified in order to make an early diagnosis of congenital heart diseases and contribute to reducing the mortality of these newborns.

Diagnosticul diferenţial ecografic al defectelor de perete abdominal fetal în primul trimestru de sarcină

Fetal abdominal wall defects (AWDs) refer to a variety of congenital anomalies characterized by the incomplete clo­sure or disruption of the abdominal wall in the early stages of embryonic development. Based on the 2011 Euro­pean Surveillance of Congenital Anomalies (EUROCAT) re­port, the general prevalence of fetal abdominal wall de­fects is documented to be six cases per 10,000 births. AWDs pose significant challenges for prenatal diagnosis and manage­ment. Ultrasound has emerged as an indispensable tool in diagnosing and characterizing various abdominal wall defects early in pregnancy, enabling precise prenatal coun­seling and appropriate antenatal management stra­te­gies. This article provides a general review of the spe­cia­lized literature regarding various types of abdominal wall de­fects, such as omphalocele, gastroschisis, pentalogy of Cantrell, bladder exstrophy, and limb body wall complex, high­lighting the significant sonographic features observed du­ring ultrasound examination. Additionally, differential diag­noses are explored, emphasizing the importance of ac­cu­rately distinguishing between these conditions to en­sure optimal management strategies. This article aims to en­hance the understanding and familiarity of ultrasound prac­ti­tio­ners and obstetricians with the spectrum of fetal ab­do­mi­nal wall defects and their prenatal sonographic ap­pea­rance, thus facilitating improved prenatal care and patients’ counseling.

Congenital pulmonary malformations : Diagnosis and treatment

Congenital pulmonary malformations (CPM) are rare and can be associated with high morbidity. Clinical presentation, diagnostic procedures, imaging, and therapy of CPM are discussed. Today, most CPM can be diagnosed prenatally by ultrasound. Postnatally, respiratory symptoms up to respiratory failure and recurrent lower respiratory tract infection are typical findings. Due to low diagnostic accuracy of chest x‑ray in CPM, all children with prenatal diagnosis of CPM or postnatally suspected CPM should undergo cross-sectional imaging. Based on imaging alone, the various subtypes of CPM cannot be definitively differentiated, which is why histological confirmation remains the gold standard. Surgical resection is the standard of care with minimally invasive procedures increasingly being employed. In certain situations, awatch-and-wait approach is possible.

Evaluating pediatric ureteropelvic junction obstruction: Dynamic magnetic resonance urography vs renal scintigraphy 99m-technetium mercaptoacetyltriglycine

BACKGROUND Ureteropelvic junction obstruction (UPJO) is a common congenital urinary tract disorder in children. It can be diagnosed as early as in utero due to the presence of hydronephrosis or later in life due to symptomatic occurrence. AIM To evaluate the discrepancy between dynamic contrast-enhanced magnetic resonance urography (dMRU) and scintigraphy 99m-technetium mercaptoacetyltriglycine (MAG-3) for the functional evaluation of UPJO. METHODS Between 2016 and 2020, 126 patients with UPJO underwent surgery at Robert Debré Hospital. Of these, 83 received a prenatal diagnosis, and 43 were diagnosed during childhood. Four of the 126 patients underwent surgery based on the clinical situation and postnatal ultrasound findings without undergoing functional imaging evaluation. Split renal function was evaluated preoperatively using scintigraphy MAG-3 (n = 28), dMRU (n = 53), or both (n = 40). In this study, we included patients who underwent surgery for UPJO and scintigraphy MAG-3 + dMRU but excluded those who underwent only scintigraphy MAG-3 or dMRU. The patients were divided into groups A (&lt; 10% discrepancy) and B (&gt; 10% discrepancy). We examined the discrepancy in split renal function between the two modalities and investigated the possible risk factors. RESULTS The split renal function between the two kidneys was compared in 40 patients (28 boys and 12 girls) using scintigraphy MAG-3 and dMRU. Differential renal function, as determined using both modalities, showed a difference of &lt; 10% in 31 children and &gt; 10% in 9 children. Calculation of the relative renal function using dMRU revealed an excellent correlation coefficient with renal scintigraphy MAG-3 for both kidneys. CONCLUSION Our findings demonstrated that dMRU is equivalent to scintigraphy MAG-3 for evaluating split renal function in patients with UPJO.

Population-based surveillance of congenital anomalies over 40 years (1981–2020): Results from the Paris Registry of Congenital Malformations (remaPAR)

IntroductionRegistries of congenital anomalies (CAs) play a key role in the epidemiological surveillance of CAs. The objective was to estimate the prevalence of CAs and proportions of prenatal diagnosis, terminations of pregnancy for fetal anomaly (TOPFA) and infant mortality in the Paris Registry of Congenital Malformations (remaPAR) over 40 years, from 1981 to 2020. Material and methodsremaPAR records all births (live births, stillbirths ≥22 weeks of gestation and TOPFA at any gestational age) with CAs detected prenatally until the early neonatal period. We estimated the prevalence of CAs and proportions of prenatal diagnosis, TOPFA and infant mortality, overall and for a selected group of CAs in 3-year intervals. ResultsThe prevalence of CAs remained stable during the study period: 2.9 % of total births and 2.1 % of live births. Genetic anomalies were the most frequent subgroup (about 23 %), followed by congenital heart defects (about 22 %) and limb defects (about 20 %). Among non-genetic anomalies, the prevalence per 10,000 births was the highest for hypospadias (about 18 %) and the lowest for bilateral renal agenesis (about 1 %). Prenatal diagnoses increased from about 17 % in the 1980s to approximately 70 % in the most recent period (2018–2020), whereas the proportion of early TOPFA <16 weeks of gestation increased from 0.4 % to 14 %. Infant mortality ranged from 0 % for transverse limb reduction defects to 86 % for hypoplastic left heart syndrome. ConclusionThe overall prevalence of CAs was fairly stable in Paris from 1981 to 2020. Prenatal diagnoses substantially increased, accompanied by much smaller increases in TOPFA.

Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies

ABSTRACT Background Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort. Research design and methods In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA). Among them, 2,084 singleton pregnancies received karyotyping and/or CMA. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of NIPS for fetal SCAs were evaluated. Results The sensitivity was 97.7% (95%CI, 87.7–99.9), 87.3% (95% CI, 76.5–94.4), 96.1% (95%CI, 86.5–99.5), and 95.7% (95% CI, 78.1–99.9), the PPV was 25.8% (95%CI, 19.2–33.2), 80.9% (95%CI, 69.5–89.4), 79.0% (95%CI, 66.8–88.3), and 53.7% (95%CI, 37.4–69.3) for 45,X, 47,XXY, 47,XXX, and 47,XYY, respectively. The specificity was 94.1% (95%CI, 93.0–95.1) for 45,X, and more than 99.0% for sex chromosome trisomy (SCT). The NPV was over 99.0% for all. Conclusions NIPS screening for fetal SCAs has high sensitivity, specificity and NPV. The PPV of SCAs was moderate, but that of 45,X was lower than that of SCTs. Invasive prenatal diagnosis should be recommended for high-risk patients.

Sacrococcygeal teratoma: an experience from a high-volume tertiary institute in North India

Background: Sacrococcygeal teratoma (SCT) is the most common tumour in the newborn. The majority is present in neonates as a sacral mass; however, some may be present late with varied clinical presentation. The study aims to evaluate the clinical presentation and management of patients with SCT in our high-volume tertiary institute in North India. Methods: This is an observational study of infants and children treated between May 2021 to April 2022 in the department of pediatric surgery, SMS Medical College, Jaipur (a high-volume tertiary institute in North India). Data collected included antenatal diagnosis, mode of delivery, age at diagnosis, clinical presentation, Altman classification, surgical approach, histopathology and complications. Functional results were evaluated clinically and radiologically. Results: Twenty-one patients (M: F=1:3.2) with a median age of 40 days (range: 1 day to 5.8 years) with SCT were managed at our centre. Nearly, two-thirds of the tumors were either Altman type 1 or 2. Yolk sac tumour was present in 2 (9.5%) patients, while the rest had either mature or immature teratoma. Tumours were removed through a posterior sagittal approach (chevron incision). In five patients, an abdominoperineal approach was used. Early complications were surgical site infection (n=5; 23.8%), superficial wound dehiscence (n=2; 9.5%), complete wound dehiscence (n=1; 2.4%), and urinary tract infection (n=1; 4.7%). Late complications were urinary dribbling or poor stream (5/21; 23.8%) and faecal soiling (n=3; 14.2%). Conclusions: Most of the sacrococcygeal tumours are benign, and the incidence of malignancy increases with age. Morbidity due to associated malformation and treatment may persist in these patients, especially like urinary complications stream (one-fifth) and faecal incontinence (one-seventh), as seen in our series. A proper long-term follow-up is needed for the management of late complications.