Malformations Of Digestive System Research Articles

Perinatal Prognosis of Pregnancies with Single Umbilical Artery in a Romanian Third-Level Unit.

Objectives: Single umbilical artery (SUA) is considered the most common abnormality of the umbilical artery. The objective of the study was to evaluate the perinatal prognosis of fetuses with SUA and to describe the associated malformations. The significance of the study is represented by examining whether our findings are in correlation with data already described.Methods: We performed a prospective cohort study on singleton pregnancies complicated with SUA. The study population was composed of women with singleton pregnancies who were examined at the Department of Obstetrics and Gynecology of the Târgu Mures County Emergency Clinical Hospital between 2012 and 2021.Results: The incidence of SUA in the study population was 0.48%. C-section was performed in 40 cases with SUA and in 5258 cases with no SUA (RR:1.56, P<0.05.) From the total number of 2249 premature deliveries, 23 newborns were diagnosed with SUA (RR:2.12, P<0.05.) From the total number of 869 deliveries with low birth weight (LBW) newborns, 13 were associated with SUA (RR: 3.12, P<0.05.) There were 206 pregnancies noted with antenatal fetal demise after 24 weeks of gestation, and only 2 of them were with SUA (RR:2.01, P>0.05.) Fetal and neonatal malformations were described in 290 cases, and 28 were associated with SUA (R:21.96, P<0.05.) In 57 of 85 cases (67.05%), we found iSUA, and 28 newborns (32.95%) had minor, major, or other associated pathologies. We found two cases of trisomy 18 and one case with trisomy 13 associated with SUA. Investigating the malformations associated with SUA, the most common were cardiac and great vessels malformations (12), followed by limb malformations (8), urogenital malformations (7), digestive tract malformations (7), central nervous system malformations (4), and in one case we found cleft palate.Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients.

Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study

Fetal digestive system malformations (DSMs) are correlated with chromosomal anomalies. The prenatal diagnosis of DSMs allows for timely treatment and reduces perinatal morbidity and mortality. However, genetic screening for fetal DSMs is rarely reported. This study aimed to investigate genetic etiology and pregnancy outcomes in cases of fetal DSM by analyzing correlations between DSM types and chromosomal anomalies. This retrospective single-center study included 126 fetuses in whom DSMs were detected via prenatal ultrasonography. Genetic etiology was investigated using conventional karyotyping, chromosome microarray analysis (CMA), and whole-exome sequencing (WES). DSMs were categorized as simple DSM (Group A), DSM combined with abnormal ultrasound soft markers (Group B), and DSM combined with comorbidities of other systems (Group C). Abnormal karyotypes were detected in 11/126 (8.7 %) fetuses. Four more pathogenic copy number variants (CNVs) were detected using CMA, increasing the detection rate to 11.9 %. The detection rates significantly differed between the three DSM types (1.78 %, 8.11 %, and 33.33 % in Groups A, B, and C, respectively). The overall adverse pregnancy outcome rate was 33.9 %, and 11.5 %, 23.5 %, and 81.3 %, (P < 0.001), respectively, in Groups A, B, and C. Out of 83 live births, three neonates died, 26 underwent postnatal surgery with 24 favorable outcomes, and 54 did not undergo surgery and were basically normal. Two neonates who underwent WES were diagnosed with CHD7-associated Charge syndrome and JAG1-associated Alagille syndrome, respectively. Our findings demonstrate that fetal DSM is closely related to chromosome aneuploidies, CNVs, and point mutations. The prognoses of most fetuses with simple DSM and those with comorbid abnormal ultrasound soft markers were favorable in the absence of chromosomal anomalies and severe structural malformations, provided they underwent timely surgery as neonates. These findings provide guidance for the prenatal diagnosis and clinical management of fetal DSMs and the genetic counseling of parents.

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.

(1) Purpose: Retrospective back-to-back comparisons were performed to evaluate the accuracy, effectiveness, and incremental yield of chromosome microarray analysis (CMA) and exome sequencing (ES) analysis in fetuses with digestive system malformations (DSMs). (2) Methods: In total, 595 women with fetal DSMs who underwent prenatal diagnosis were enrolled. We analyzed the diagnostic yields of CMA and ES and evaluated pregnancy outcomes. Copy number variants (CNVs) were classified according to the American College of Medical Genetics and Genomics guidelines. (3) Results: Pathogenic CNVs were detected in 11/517 (2.12%) fetuses, and variants of unknown significance (VUS) were identified in 69 (13.35%) fetuses using CMA. ES detected 29 pathogenic/likely pathogenic variants in 23/143 (16.08%) fetuses and 26/143 (18.2%) VUS. In those with other ultrasound abnormalities, the detection rate of multiple system structural malformations was 41.2%, followed by skeletal (33.3%), cardiovascular (25.4%), and central nervous system (18.6%) malformations. Of the 391 surviving children, 40 (10.2%) exhibited varying degrees of mental retardation. (4) Conclusion: A correlation exists between DSMs and chromosomal abnormalities. When combined with other systemic abnormalities, the incidence of chromosomal abnormalities increases significantly. Patients with congenital DSM are at risk of developing neurodevelopmental disorders. Combined CMA and ES detection of fetal DSM has good clinical application potential.

Gender bias in fetal malformations: A cross-sectional study in Asian populations.

The aim of this study was to detect any gender bias in fetal malformation cases. This study was a cross-sectional, quantitative survey. Overall, 1,661 Asian fetal malformation cases involving induced abortions in the obstetrics department of the first Affiliated Hospital of Zhengzhou University from 2012 to 2021 were included. Measurements of ultrasound detectable structural malformations were classified into 13 subtypes. Karyotyping, single nucleotide polymorphism (SNP) array, or sequencing diagnosis of these fetus was also included in the outcome measures. The sex ratio (male/female) of all malformation types was 1.446. Cardiopulmonary had the highest proportion of all malformation types with 28%. Diaphragmatic hernia, omphalocele, gastroschisis, nuchal translucency (NT), and Multy malformations had significantly higher proportions of males (p < 0.05). Digestive system malformations had a significantly higher proportion of females (p < 0.05). Maternal age was associated with genetic factors (r = 0.953, p < 0.001) and inversely associated with brain malformations (r = -0.570, p = 0.002). More males were found with trisomy 21, trisomy 18, and monogenetic diseases, while duplications, deletions, and uniparental disomy (UPD) had similar sex ratios between males and females, but not statistically significant. Sex differences are common with fetal malformations, with higher proportions of males. Genetic testing has been proposed to account for these differences.

Use of Azithromycin in Pregnancy: More Doubts than Certainties.

Macrolides such as azithromycin are commonly prescribed antibiotics during pregnancy. The good oral bioavailability and transplacental transfer of azithromycin make this drug suitable for the treatment of sexually transmitted diseases, toxoplasmosis, and malaria. Moreover, azithromycin is useful both in the management of preterm pre-labor rupture of membranes and in the adjunctive prophylaxis for cesarean delivery. The aim of this comprehensive narrative review is to critically analyze and summarize the available literature on the main aspects of azithromycin use in pregnant women, with a special focus on adverse offspring outcomes associated with prenatal exposure to the drug. References for this review were identified through searches of MEDLINE, PubMed, and EMBASE. Fetal and neonatal outcomes following prenatal azithromycin exposure have been investigated in several studies, yielding conflicting results. Increased risks of spontaneous miscarriage, major congenital malformations, cardiovascular malformations, digestive system malformations, preterm birth, and low birth weight have been reported in some studies but not in others. Currently, there is no conclusive evidence to support that azithromycin use by pregnant women causes adverse outcomes in their offspring. Therefore, this agent should only be used during pregnancy when clinically indicated, if the benefits of treatment are expected to outweigh the potential risks.

Prenatal Exposure to Macrolides and Risk of Congenital Malformations: A Meta-Analysis.

Macrolides are widely used during pregnancy; however, their fetal safety remains uncertain. We performed a meta-analysis to assess the relation between prenatal exposure to macrolides and occurrence of congenital malformations. We searched MEDLINE, EMBASE, and other databases until June 12, 2019. We assessed the quality of the studies and checked for heterogeneity and publication bias. We performed three different analyses and compared the effect of macrolides with each of the following unexposed populations: Group 1: babies unexposed to any medicine before birth, Group 2: babies exposed to non-macrolide antibiotics/non-teratogens, and Group 3: mixed population of the first and second comparators. A weak association between macrolides and congenital malformation of any type was observed when macrolides were compared with the mixed population (ORgroup 3 1.06 [95% CI 1.01-1.10]). Subgroup analysis showed that this weak association is restricted to fetus exposure in the first trimester of pregnancy (OR 1.06 [95% CI 1.01-1.11]) and to cohort studies (OR 1.07 [95% CI 1.02-1.13]). Digestive system malformations were found to be slightly associated with prenatal exposure to macrolides (ORgroup3 1.14 [95% CI 1.02-1.26]). The musculoskeletal system was also found to be potentially affected (ORgroup2 1.21 [95% CI 1.08-1.35] and ORgroup3 1.15 [95% CI 1.05-1.26]). European studies showed a slightly stronger association than American studies in these two comparisons. Our study suggests a weak association between prenatal use of macrolides and congenital malformations, limited to exposure in early pregnancy, and musculoskeletal and digestive systems. In addition to studies with a larger control of confounding, risk-benefit research is needed to determine the usefulness of macrolides during pregnancy.

Multiple pregnancies achieved with IVF/ICSI and risk of specific congenital malformations: a meta-analysis of cohort studies.

Studies comparing risk of specific congenital malformations (CM) between multiple pregnancies resulting from IVF/intracytoplasmic sperm injection (ICSI) and those conceived naturally report conflicting results; furthermore, there is a lack of a complete overview. This meta-analysis aimed to address which types of CM are increased in IVF/ICSI multiple pregnancies compared with those conceived naturally. All studies testing the association between IVF/ICSI multiple pregnancies and specific CM identified in various databases were considered. The literature search yielded 856 records, of which 21 cohort studies were included for analysis. Overall, multiple pregnancies achieved with IVF/ICSI experienced a significantly higher risk of chromosomal defects (relative risk [RR] = 1.36; 95% confidence interval [CI]: 1.04-1.77), urogenital (RR = 1.18; 95% CI: 1.03-1.36) and circulatory (RR = 1.22; 95% CI: 1.01-1.47) system malformations. However, the remaining specific CM, such as cleft lip and/or palate, eye, ear, face and neck, respiratory, musculoskeletal, nervous and digestive system malformations, were similar in the two groups. No substantial heterogeneity was observed for most outcomes except for digestive (P = 0.094; I2 = 38.3%) and circulatory (P = 0.070; I2 = 35.2%) system malformations. These findings provide additional information on risks of IVF/ICSI for use when counselling patients.

Prenatal multidisciplinary consultation for diagnosis and treatment of fetal deformity

Objective To summarize the experience of multidisciplinary consultation for prenatal fetal deformity, and to explore the mode suitable for China. Methods The Obstetrics and Gynecology Hospital of Fudan University and Children＇s Hospital of Fudan University established a joint multidisciplinary consultation center, including obstetrics, pediatrics, pediatric surgery, ultrasound and other departments. A total of 3 378 pregnant women visited the consultation center from July 31, 2003 to August 1, 2013. After consultation,treatment was divided into three classes： pregnancy termination, pregnancy continuation and perinatal treatment. Follow-up was made through correspondence and telephone communication. Retrospective analysis on reasons for consultation, fetal structural abnormalities of the classification system, chronological order of abnormalities, gestational weeks of diagnosis, maternal-related factors, treatment and prognosis was performed. Results （ 1 ） Reasons for consultation： Among 3 378 women undertaking prenatal multidisciplinary consultation, 3 243 （ 96.00% ） were due to fetal factors, and 135 （ 4.00% ） were due to maternal factors. （ 2 ） Classification of fetal structural abnormalities： Among the 3 243 cases undertaking consultation with fetal factors, fetal abnormality was found in 80.85% （ 2 622/3 243 ）. The most common were neurological abnormalities （ 23.19%, 608/2 622 ） , followed by urinary tract malformation （ 20.25%, 531/2 622 ） and cardiovascular malformation （ 15.48%, 406/2 622 ） . These were followed by digestive system malformation, limb deformities and space- occupying lesions. There were 156 cases of multiple malformations. （ 3 ） Average gestational weeks for diagnosis of fetal deformity： The 2 622 cases of fetal deformity were diagnosed at a mean （26.7~＋ 2.1 ） of gestational weeks （ 21.1-30.4 weeks ） . Urinary tract malformations were detected at （ 24.0_＋0.7 ） weeks, whereas digestive system malformations were detected at （28.3_＋2.6） weeks. （4） Induced labor： Induced labor cases accounted for 35.66% （ 935/2 622 ） , among which, 92 cases were fetal intrauterine death and 843 cases were active choice. The several highest induced labor rates resulted from multiple malformations （ 75.64%, 118/156 ）, abdominal wall defects （ 62.22%, 28/45 ）, diaphragmatic hernia （ 61.54%, 24/39 ） , cleft lip and palate （ 55.32%, 26/47 ） and cardiovascular malformations （ 49.51%, 201/406 ） . For nervous system （ 27.80%, 169/608 ） , urinary tract （ 25.80%, 137/531 ） and digestive system malformations （ 26.94%, 66/245 ） , induced labor rates were 〈30%. For abdominal lesions （ 14.04%, 25/178 ） and sacrococcygeal teratoma （ 13.64%, 3/22 ） , induced labor rates were 〈15%. （ 5 ） Continuation of pregnancy in 1 687 cases： Cesarean section was conducted in l 046 （ 61.94% ）. Neonatal death occurred in 117 （ 6.94% ）. （ 6 ） Perinatal treatment： Twenty-one cases were treated during pregnancy, including thirteen cases with fetal ascites and hydrothorax treated by drainage, five cases with fetal anemia treated by intrauterine transfusion and three cases with fetal tachycardia treated by digoxin. Ten cases were treated by ex-utero intrapartum treatment. After birth, 297 newborns immediately underwent neonatal surgery. Among these, 259 cases underwent radical surgery, eleven palliative surgery, and sixteen elective surgery after follow-up. Conclusions Prenatal multidisciplinary consultation can make comprehensive multidisciplinary assessment of fetal prognosis and improve the diagnosis and treatment of structural malformations. Key words: Congenital abnormalities; Prenatal diagnosis; Referral and consultation; Physician＇spractice patterns; Peripartum period; Prognosis

Malformaciones congénitas del sistema digestivo: Maternidad Hospital Clínico de la Universidad de Chile. Período 1991-2001

There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63% were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population.To report the frequency of digestive system congenital malformations in this population.Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations.Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations.The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations.