Search Results (28)

Background: Deferred cord clamping (DCC) is beneficial for preterm infants, but there are concerns about the safety of DCC during Cesarean deliveries (CD) under general anesthesia (GA). We evaluated maternal and neonatal outcomes in preterm CD under GA vs. regional anesthesia (RA) after implementing 180 s of DCC. Methods: This retrospective single-center observational study included CD at <33 weeks gestation, delivered between January 2018 and December 2023. The cord was clamped before 180 s for concerns of maternal bleeding or infant apnea after 30–45 s stimulation. Data was collected from reports from electronic medical records, neonatal intensive care unit database, and manually from the medical records of the patient. Multivariable regression analysis was used to assess the effect of anesthesia type and DCC on outcomes, adjusting for confounders. Results: This study included 170 mothers and 194 infants, and 84.9% of the infants received DCC ≥ 60 s. The GA group had a higher percentage of emergency CD and a lower median duration of DCC (105 s vs. 180 s, p ≤ 0.001) compared to RA. In multivariate regression analysis, GA was associated with lower odds (95% CI) of umbilical artery pH < 7 [0.1, (0.0, 0.6)], base deficit ≥ 16 [0.0, (0.0, 0.5)], and higher odds of necrotizing enterocolitis [28.2, (1.4, 560.0)]. GA was not associated with maternal hemorrhage, delivery room (DR) resuscitation, or other major neonatal morbidities or mortality. DCC ≥ 60 s was associated with lower maternal blood loss [Regression coefficient −698, (−1193, −202)], lower odds of transfusion [0.4, (0.1, 1.0)], DR resuscitation [0.4, (0.2, 0.8)], and chronic lung disease [0.4, (0.2, 0.9)], and higher survival without major morbidities [2.8, (1.2, 6.8)]. Conclusions: DCC was performed in a majority of CD under GA by adhering to protocols to shorten DCC in cases where maternal or fetal safety was threatened. GA with DCC was not associated with increased neonatal resuscitation or major neonatal morbidities and was associated with lower maternal hemorrhage and transfusion. Full article

Background and Clinical Significance: Prader–Willi syndrome (PWS) is a rare genetic disease caused by imprinted gene dysfunction, typically involving deletion of the chromosome 15q11.2-q13 region, balanced translocation, or related gene mutations in this region. PWS presents with complex and varied clinical manifestations. Abnormalities can be observed from the fetal stage and change with age, resulting in growth, developmental, and metabolic issues throughout different life stages. Case Presentation: We report the prenatal characteristics observed from the second to third trimester of pregnancy in a neonate with PWS. Prenatal ultrasound findings included a single umbilical artery, poor abdominal circumference growth from 26 weeks, normal head circumference and femur length growth, increased amniotic fluid volume after 30 weeks, undescended fetal testicles in the third trimester, small kidneys, and reduced fetal movement. The male infant was born at 38 weeks of gestation with a birth weight of 2580 g. He had a weak cry; severe hypotonia; small eyelid clefts; bilateral cryptorchidism; low responsiveness to medical procedures such as blood drawing; and poor sucking, necessitating tube feeding. Blood methylation-specific multiple ligation-dependent probe amplification (MS-MLPA) showed paternal deletion PWS. Notably, this case revealed two previously unreported prenatal features in PWS: a single umbilical artery and small kidneys. Conclusions: Through literature review and our case presentation, we suggest that a combination of specific sonographic features, including these newly identified markers, may aid clinicians in the early diagnosis of PWS. Full article

Background: Noonan syndrome (NS) is a relatively common RASopathy that can be associated with a variety of phenotypic and genotypic variations and potential long-term health consequences. Its most described prenatal ultrasound features in the first trimester are thickened nuchal translucency (NT) and dilated jugular sacs; while heart defects, polyhydramnios and facial dysmorphisms are its known manifestations in the second and third trimesters. Methods: We present two cases of NS with the prenatal ultrasound diagnosis of external hydrocephalus (EH) in the second trimester. Results: Case 1 had a normal first trimester scan and showed mild polyhydramnios, an echogenic intracardiac focus (EIF) in the left ventricle and pyelectasis in the second trimester in association with the EH. The whole exome sequencing (WES) confirmed a pathogenic variant in the SOS1 gene. Case 2 showed increased NT, agenesis of the ductus venosus (DV), single umbilical artery (SUA), an EIF in the right ventricle and an abnormal prefrontal space ratio (PSFR). By the 19th gestational week, EH appeared. The ambient and quadrigeminal cisterns were also slightly widened. The WES revealed a PTPN11 gene variant. Conclusions: The most reported sonographic features of NS are either non-specific or difficult to integrate into routine screening, requiring substantial experience. In our two cases, we detected EH in the second trimester, which is rarely described as a prenatal ultrasound diagnosis. To our current knowledge, this is the first case reported of EH in NS caused by an SOS1 gene variant and these are the first cases reported with the prenatal sonographic diagnosis of EH in NS. Full article

Congenital malformations constitute a major public health issue. Nonetheless, Greece does not participate in the European network of congenital anomalies. To examine the epidemiology of congenital abnormalities and investigate possible factors associated with their development, autopsies were performed on 649 fetuses referred from three healthcare facilities in Thessaloniki during 1992–2008. Adequate statistical analysis methods were implemented. Birth defects were found in 256 fetuses (39.5%)—primarily related to the musculoskeletal (17.3%), nervous (14.5%), cardiovascular (12.5%) and urinary (10.4%) systems. A statistically significant positive correlation (p-values < 0.05) emerged between the presence of a congenital defect and intrauterine growth restriction, inability to identify the fetus’ sex, iatrogenic abortion, nuchal oedema and a single umbilical artery. An inverse association (p-values < 0.05) was deduced with the gestational age, twin pregnancy, stillbirth, chorioamnionitis, infarction and intervillous thrombus of the placenta and nuchal cord. In multivariable analysis, the relationship remained significant (p-values < 0.05) between the development of birth defects and iatrogenic abortion, nuchal oedema, presence of a single umbilical artery, chorioamnionitis, infarction of the placenta and nuchal cord. ROC curve analysis indicated area under the curve = 0.800, 95% confidence interval = 0.76–0.84, p-value = 0.000. Our study revealed the epidemiology of congenital anomalies in Greece, confirming the relationship between various factors and birth defect occurrence. Full article

Background/Objectives: Hypoxic–ischemic encephalopathy (HIE), affecting 1.3–1.7/1000 live births, is treated with conventional therapeutic hypothermia (TH) but carries significant mortality and neurological impairment. Here, we compared intravascular cooling with extracorporeal membrane oxygenation (ECMO) and conventional TH in neonates with moderate to severe HIE. Methods: We retrospectively analyzed single-center neonates born in 2000–2022. Neonates with a 10 min Apgar score ≤ 3 or umbilical artery pH ≤ 6.7, along with persistent pulmonary hypertension of the newborn and an oxygenation index of ≥25 to <40, were divided into ECMO (n = 17) and conventional TH (n = 18) groups and administered the Kyoto Scale of Psychological Development at 18 months. Results: Neonatal and maternal characteristics were similar between the groups. A significantly higher proportion of the ECMO group (70.6% vs. 33.3%) achieved a developmental quotient ≥ 70. Conclusions: Intravascular cooling with ECMO may improve the neurodevelopmental outcomes of neonates with HIE, severe acidosis, and low Apgar scores. Full article

Objective: Global utilization of assisted reproductive technology (ART) is increasing; however, it is associated with adverse perinatal outcomes. Placental and umbilical cord abnormalities contribute significantly to these negative outcomes. However, it remains unclear whether ART independently increases the risk of such abnormalities. This study aimed to investigate the association between ART and key umbilico-placental abnormalities, after adjustment for confounders. Methods: In this retrospective cohort study, singleton pregnancies receiving routine antenatal care (January 2015 to June 2024) at the 3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Greece, were analyzed. Pregnancies conceived via ART were compared to those conceived spontaneously. To investigate placental and cord anomalies, this study employed multiple logistic regression. This approach adjusted for various confounders, including maternal age, BMI, parity, smoking status, history of previous cesarean section, diabetes mellitus, and thyroid disease. Results: This study included a total of 13,854 singleton pregnancies, of which 647 were conceived via ART. ART was significantly associated with an increased risk of placenta previa (aOR 1.99, 95% CI 1.10–3.61), low-lying placenta (aOR 1.71, 95% CI 1.38–2.11), bilobate placenta (aOR 2.81, 95% CI 1.92–4.11), single umbilical artery (aOR 2.62, 95% CI 1.022–6.715), marginal (aOR 1.63, 95% CI 1.32–2.01) and velamentous cord insertion (aOR 3.13, 95% CI 1.98–4.95), and vasa previa (aOR 5.51, 95% CI 1.28–23.76). Conclusions: ART-conceived pregnancies appear to carry a higher risk for certain placental and umbilical cord abnormalities, potentially contributing to adverse perinatal outcomes. Further studies are required to investigate the pathophysiology underlying these associations. Full article

Background: Umbilical artery thrombosis (UAT) masquerading as a single umbilical artery (SUA) is a rare but critical diagnostic challenge in prenatal care. Case Presentation: We described a case of a 22-year-old primigravida with an uneventful obstetric history who presented with reduced fetal movements at 22 weeks of gestation. Ultrasound showed no gross fetal structural anomalies while umbilical artery Doppler flow imaging revealed an isolated SUA. The patient again presented with diminished fetal movement at 24 weeks gestation, and a diagnosis of intrauterine demise was confirmed ultrasonographically. She was then induced and delivered a macerated stillborn female fetus. Placental examination revealed three umbilical vessels with an occlusive thrombus seen within the umbilical artery consistent with UAT, a finding previously mistaken for SUA. Conclusions: This case underscores the diagnostic difficulties of UAT radiologically, especially when there was no prior documented evidence of two umbilical arteries. Identification of at-risk fetuses would allow for close monitoring or effective interventions to be implemented as early as possible to avert preventable fetal loss. Full article

Background/Objectives: Fluoxetine (FLX) is the inhibitor of serotonin reuptake most prescribed in pregnant women with depression. This study evaluates the influence of gestational diabetes mellitus (GDM) on the enantioselective pharmacokinetics and transplacental distribution of FLX and its metabolite norfluoxetine (norFLX). Methods: Ten pregnant women diagnosed with GDM (GDM group) were investigated in the third trimester of gestation after they achieved good glycemic control. They received a single oral dose of 20 mg FLX, and blood samples were collected from 0 to 672 h. On the day of delivery, after another single oral dose of 20 mg FLX, blood samples of maternal vein, umbilical vessels and intervillous space were collected at birth. The pharmacokinetics parameters obtained for pregnant women diagnosed with GDM were compared with a group of healthy pregnant women (n = 9) previously investigated using Kruskal–Wallis’s rank-sum test with the Dunn–Bonferroni post hoc test. Results: The area under the plasma over time curve (AUC_0–∞) were 197.93 and 109.62 ng∙h/mL for FLX and 600.39 and 960.83 ng∙h/mL for norFLX, respectively, for their R-(+)- and S-(-)- enantiomers. The umbilical vein/maternal vein ratio for FLX and norFLX enantiomers was nearly 0.3, inferring low placental transfer. The umbilical artery/umbilical vein ratios were nearly 0.7 for both FLX and norFLX enantiomers, indicating absence or small fetal metabolism. Conclusions: The GDM did not alter the pharmacokinetics of FLX and norFLX enantiomers in patients with good glycemic control evaluated in the third trimester of gestation. Full article

Single umbilical artery (SUA) is considered an ultrasound marker of anomalies. Although it may be present in about 0.5% to 6% of normal pregnancies, it has been linked with an increased risk of fetal growth restriction (FGR), as well as cardiac, genitourinary and gastrointestinal malformations and chromosomal anomalies such as trisomies 21 and 18. Objectives: This study aims to evaluate whether the presence of isolated SUA (ISUA) is associated with adverse perinatal outcomes. Methods: A descriptive, observational and retrospective study was conducted, analyzing 1234 pregnancies (1157 normal gestations with a three-vessel cord and 77 cases of ISUA). Results: ISUA was associated with a lower gestational age (38 vs. 39 weeks) and a lower birth weight (3013 vs. 3183 g) when performing a univariate analysis. However, after performing a multivariate analysis adjusted for maternal age and BMI, the association between single umbilical artery (SUA) and lower birth weight could not be proven. No significant differences were found in the rate of malformations, genetic disorders, Apgar score, pH at birth or admissions in the neonatal ICU. Conclusions: ISUA is associated with a lower birth weight but does not increase the risk of prematurity or low-birth-weight-related neonatal admissions. Additionally, ISUA is not significantly associated with a lower gestational age, genetic disorders, fetal malformations, worse Apgar scores or lower pH values at birth. Full article

The umbilical cord, comprising three vital blood vessels, serves as the lifeline between mother and fetus. Prenatal care emphasizes detailed ultrasound examinations of the umbilical cord and postnatal inspections of the placenta and cord to preemptively address potential complications. Studies have consistently shown a significant link between a single umbilical artery and unfavorable perinatal consequences, such as mortality and congenital abnormalities. Conversely, the impact of additional vessels remains uncertain. This review is dedicated to enhancing our understanding and refining diagnostic and therapeutic approaches in prenatal healthcare. The objective is to identify knowledge gaps and propose evidence-based solutions to improve care for pregnant women and their unborn babies. The presence of a single umbilical artery in prenatal diagnosis may signify potential risks for fetal anomalies and adverse pregnancy outcomes such as hemodynamic instability, ischemia, and an increased likelihood of intrauterine growth restriction. Additionally, even the presence of supernumerary vessels may be associated with fetal malformations. Serial fetal evaluations are recommended for detecting anomalies and monitoring fetal growth throughout pregnancy. Despite the generally benign nature of isolated SUA and supernumerary vessels, close monitoring and comprehensive prenatal care are essential to ensuring optimal outcomes for both mother and baby. Full article

Background: This systematic review and meta-analysis aimed to compare the effects of using phenylephrine or norepinephrine on the pH and base excess (BE) of the umbilical artery and vein in parturients undergoing cesarean section. Methods: The study protocol was registered in INPLASY. Independent researchers searched Ovid-Medline, Ovid-EMBASE, and Cochrane Central Register of Controlled Trials (CENTRAL) databases and Google Scholar for relevant randomized controlled trials (RCTs). The primary outcome of this study was the umbilical artery (UA) or umbilical vein (UV) pH as neonatal condition at birth, and the secondary outcome was the UA or UV BE as an additional prognostic value over the measurement of umbilical pH. Results: There was no evidence of a difference between phenylephrine and norepinephrine for overall, UA, and UV pH (mean difference (MD) −0.001, 95% confidence interval (CI) −0.004 to 0.007; MD 0.000, 95%CI −0.004 to 0.004; and MD 0.002, 95%CI −0.013 to 0.017). There was also no evidence of a difference between phenylephrine and norepinephrine for overall, UA, and UV BE (MD 0.096, 95% CI −0.258 to 0.451; MD 0.076, 95%CI −0.141 to 0.294; and MD 0.121, 95%CI; −0.569 to 0.811). A meta-regression showed that factors such as umbilical artery or vein, infusion method, single or twin, and the number of parturients per study had no effect on the UA pH, UV pH, UA BE, or UV BE. No evidence of publication bias was detected. Conclusions: There was no evidence of a difference between phenylephrine and norepinephrine for umbilical pH and BE. A subgroup analysis and meta-regression also did not show evidence of differences. Full article

We hypothesized and investigated whether prenatal exposure to preeclampsia (PE) would simultaneously affect perinatal cardiovascular features and angiotensin system expressions. This prospective study was composed of mother-neonate dyads with (n = 49) and without maternal preeclampsia (n = 48) in a single tertiary medical center. The neonates exposed to PE had significantly larger relative sizes for the left and right coronary arteries and a higher cord plasma level of aminopeptidase-N, which positively correlated with the maternal diastolic blood pressures and determined the relative sizes of the left and right coronary arteries, whereas the encoding aminopeptidase-N (ANPEP) mRNA level in the PE cord blood leukocytes was significantly decreased, positively correlated with the neonatal systolic blood pressures (SBPs), and negatively correlated with the cord plasma-induced endothelial vascular cell adhesion molecule-1 mRNA levels. The PE cord plasma significantly induced higher endothelial mRNA levels of angiotensin II type 1 receptor (AT1R) and AT4R, whereas in the umbilical arteries, the protein expressions of AT2R and AT4R were significantly decreased in the PE group. The endothelial AT1R mRNA level positively determined the maternal SBPs, and the AT4R mRNA level positively determined the neonatal chamber size and cardiac output. In conclusion, PE may influence perinatal angiotensin system and cardiovascular manifestations of neonates across placentae. Intriguing correlations between these two warrant further mechanistic investigation. Full article

Pathogenic single-nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving the FOXF1 transcription factor gene or CNV deletions of its distant lung-specific enhancer are responsible for alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a rarely diagnosed lethal lung developmental disorder in neonates. In contrast to SNVs within FOXF1 and CNV deletions involving only the FOXF1 enhancer, larger-sized deletions involving FOXF1 and the adjacent, oppositely oriented lncRNA gene FENDRR have additionally been associated with hypoplastic left heart syndrome and single umbilical artery (SUA). Here, in an ACDMPV infant without any congenital heart defect or SUA, we identified a small 5 kb CNV deletion that removed the paternal allele of FOXF1 and its promoter, leaving FENDRR and its promoter intact. Reporter assay in the IMR-90 fetal cell line implied that the deletion may indeed not have significantly affected FENDRR expression. It also showed a polarization of the FOXF1-FENDRR inter-promoter region consisting of its ability to increase the transcription of FENDRR but not FOXF1. Interestingly, this transcription-stimulating activity was suppressed in the presence of the FOXF1 promoter. Our data shed more light on the interactions between neighboring promoters of FOXF1-FENDRR and possibly other divergently transcribed mRNA-lncRNA gene pairs. Full article

This study constitutes a description of prenatal echo-sonographic parameters in fetuses wrapped with the umbilical cord in the third trimester of pregnancy and demonstrates the practical importance of the umbilical cord collision. Echocardiographic examinations were performed within 6 months, and a group of patients in the third trimester with a mean age of 28.1 ± 0.79 weeks of gestation (p = 0.075) was distinguished. The group included 46 fetuses from single pregnancies with the umbilical cord around the fetal neck and 70 fetuses without the umbilical cord around the fetal neck. The course of the umbilical cord coiling around the fetal neck was recorded by color Doppler. We also conducted a follow-up with the newborns. In the study group, there was an elevated peak systolic velocity of the umbilical artery (UMB PSV) at a level of 44.17 cm/s vs. 38.90 cm/s in the control group (p = 0.004), and caesarean sections were significantly more frequent (54.5% vs. 31.4%). The persistence of the nuchal cord during delivery was observed in 37% of newborns in the study group, while the occurrence of umbilical wrapping during delivery was found in 18.6% of newborns in the control group (p = 0.027). In the studied cases, caesarean sections were 2.62 times more frequent (OR = 2.62), whereas nuchal cords during delivery were 2.57 times more often observed (OR = 2.57). Fetal umbilical cord wrapping in the third trimester of pregnancy does not have a significant hemodynamic impact; however, the UMB PSV might be slightly elevated in this group, and the frequency of umbilical cord collision during delivery and the need to perform a caesarean section at term seem to be more common. Full article

Fetal Vascular Malperfusion (FVM), a pathologic condition in the feto-placental circulation, is a chronic vaso-occlusive disorder in the umbilical venous blood flow. Microthrombi are caused by the umbilical cord’s blood flow deficiency in a congested umbilical vein, which also causes microvascular damage to fetal organs, especially the brain, resulting in cerebral palsy. Thrombo-occlusive events also adversely affect the upstream chorionic or stem vessels in the placenta, resulting in fetal growth restriction and fetal hypoxia. An umbilical cord structural anomaly or multiple entanglements may involve FVM. In the present report, we demonstrate a case of FVM caused by multiple umbilical cord abnormalities obtained from antenatal ultrasound Doppler findings, and we also discuss FVM, which is chronically associated with CP, comparing the ultrasonographic findings to the pathologic findings. Full article