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Australasian Journal of Ultrasound in... Nov 2023To analyse amniotic fluid volume (AFV), specifically oligohydramnios or polyhydramnios, and associated pregnancy and neonatal outcomes in twin gestations through...
OBJECTIVE
To analyse amniotic fluid volume (AFV), specifically oligohydramnios or polyhydramnios, and associated pregnancy and neonatal outcomes in twin gestations through systematic review and meta-analysis.
METHODS
We utilised systematic review methodology to identify items within published and grey literature resources. Prospective and retrospective studies with a control group were included. Inclusion criteria were as follows: studies in English, twin pregnancy in which AFVs and associated pregnancy and/or neonatal outcomes were evaluated. Exclusion criteria included the presence of an anomalous fetus, chromosome abnormality, monochorionic diamniotic twin pregnancy complicated by twin-twin transfusion syndrome or twin-reversed arterial perfusion, twin gestations undergoing therapeutic interventions ( fetoscopic laser photocoagulation and serial amniocentesis) and monochorionic monoamniotic twin pregnancy.
RESULTS
The literature search identified 1068 abstracts, only four met criteria for inclusion and analysis. The pooled data (two studies per outcome) revealed no significant difference in rate of pre-term delivery (OR: 2.94; CI: 0.20-43.81), pre-term delivery less than 32 weeks (OR: 1.97; CI: 0.43-9.12), umbilical cord pH < 7 (OR: 2.66; CI: 0.22-32.51), rate of stillbirth (OR: 4.13; CI: 0.40-42.70), neonatal death (OR: 1.48; CI: 0.05-43.94), rate of NICU admission (OR: 1.38; CI: 0.61-3.11) or rate of small-for-gestational-age (SGA) infants (OR: 1.39; CI: 0.33-5.94).
CONCLUSION
Based on the pooled data (two studies per outcome), there was no difference in the fate of pre-term delivery, umbilical cord pH < 7, stillbirth, neonatal death or SGA infants. What is disturbing is the lack of studies (1946-2020) that analysed the association between AFV and pregnancy outcomes in twin pregnancies.
PubMed: 38098617
DOI: 10.1002/ajum.12361 -
European Journal of Paediatric... Jan 2024Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat.
BACKGROUND
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat.
METHODS
A cross-sectional study was performed to characterize pediatric patients with DM1 followed in a tertiary hospital over the last 29 years, comparing the congenital and the childhood/juvenile-onset forms.
RESULTS
Thirty-seven patients (59.5 % male) were included, with a median age at the latest assessment of 16.8 years and a median follow-up of 7.7 years. Eleven patients were lost to follow-up, and two died. Twenty-five had congenital DM1 (CDM1), and this form had significantly higher triplet repeat length, history of polyhydramnios, lower median age at diagnosis, and first and last assessment. Common symptoms included distal skeletal muscle weakness (75.7 %) and facial involvement (94.6 %), along with dysphonia/dysarthria (73.0 %) and myotonia (73.0 %). Delayed independent ambulation frequency was significantly higher for CDM1 cases. Skeletal deformities affected 54.1 %, with talipes equinovarus and scoliosis occurring exclusively in CDM1 patients. Cognitive deficit was present in 75.7 % of cases. Polysomnograms revealed seven cases of obstructive sleep apnea and two of hypoventilation. Noninvasive ventilation was used in nine cases, and three had recurrent respiratory infections. The cardiovascular system was affected in 21.6 % of cases. Gastrointestinal issues included constipation (24.3 %), feeding difficulties (16.2 %), and cholelithiasis (5.4 %). Cataracts, epilepsy, and diabetes mellitus were reported in two cases each.
CONCLUSION
Our study highlights the diverse spectrum of severity and multiorgan involvement of DM1 in pediatric patients. It underscores the importance of establishing a pediatric-specific standard of care to enhance health outcomes through comprehensive multidisciplinary management.
Topics: Pregnancy; Female; Humans; Child; Male; Myotonic Dystrophy; Cross-Sectional Studies; Hospitals, Pediatric; Tertiary Care Centers; Cognitive Dysfunction
PubMed: 38088012
DOI: 10.1016/j.ejpn.2023.12.001 -
Andes Pediatrica : Revista Chilena de... Dec 2023Portosystemic venous shunts (PSVS) are malformations that result from abnormal communications between the portal and hepatic veins or inferior vena cava. Prenatal...
UNLABELLED
Portosystemic venous shunts (PSVS) are malformations that result from abnormal communications between the portal and hepatic veins or inferior vena cava. Prenatal diagnosis is made by evaluating the fetal venous circulation and it is classified as intrahepatic and extrahepatic, with different evolution and complications.
OBJECTIVE
To report two cases of prenatal diagnosis of portosystemic vascular shunts and review the importance of this rare pathology in its neonatal and pediatric evolution.
CLINICAL CASES
Case 1: pregnancy with fetal growth restriction, 2nd percentile, polyhydramnios, without fetal malformations and abnormal patterns on fetal Doppler. Abnormal blood flow through the ductus venous and abnormal venous communication in the liver were identified. Normal genetic study. Male newborn (NB) delivered at 36 weeks, because of severe fetal growth restriction, by emergency cesarean section. He evolved asymptomatic, with normal liver function, and did not continue follow-up. Case 2: pregnancy with fetal growth restriction < percentile 1. Agenesis of the ductus venous and abnormal communication between the portal vein and the left suprahepatic vein were identified with no other malformations or signs of heart failure. Severe SGA newborn was delivered by induction of labor at 35 weeks. He evolved asymptomatic. Normal complementary study. A home check-up at 2 months showed persistent vascular anomaly without systemic involvement.
CONCLUSIONS
Even though in the cases presented there were no neonatal complications, this kind of malformations require a high index of suspicion in cases with fetal growth restriction, as well as a long-term multidisciplinary follow-up.
Topics: Infant, Newborn; Male; Humans; Pregnancy; Female; Child; Cesarean Section; Fetal Growth Retardation; Ultrasonography, Prenatal; Portal Vein; Vena Cava, Inferior
PubMed: 38329310
DOI: 10.32641/andespediatr.v94i6.4485 -
Diabetology & Metabolic Syndrome Mar 2024To evaluate the effect of intrahepatic cholestasis of pregnancy (ICP) with gestational diabetes mellitus (GDM) on perinatal outcomes and establish a prediction model of...
PURPOSE
To evaluate the effect of intrahepatic cholestasis of pregnancy (ICP) with gestational diabetes mellitus (GDM) on perinatal outcomes and establish a prediction model of adverse perinatal outcomes in women with ICP.
METHODS
This multicenter retrospective cohort study included the clinical data of 2,178 pregnant women with ICP, including 1,788 women with ICP and 390 co-occurrence ICP and GDM. The data of all subjects were collected from hospital electronic medical records. Univariate and multivariate logistic regression analysis were used to compare the incidence of perinatal outcomes between ICP with GDM group and ICP alone group.
RESULTS
Baseline characteristics of the population revealed that maternal age (p < 0.001), pregestational weight (p = 0.01), pre-pregnancy BMI (p < 0.001), gestational weight gain (p < 0.001), assisted reproductive technology (ART) (p < 0.001), and total bile acid concentration (p = 0.024) may be risk factors for ICP with GDM. Furthermore, ICP with GDM demonstrated a higher association with both polyhydramnios (OR 2.66) and preterm labor (OR 1.67) compared to ICP alone. Further subgroup analysis based on the severity of ICP showed that elevated total bile acid concentrations were closely associated with an increased risk of preterm labour, meconium-stained amniotic fluid, and low birth weight in both ICP alone and ICP with GDM groups. ICP with GDM further worsened these outcomes, especially in women with severe ICP. The nomogram prediction model effectively predicted the occurrence of preterm labour in the ICP population.
CONCLUSIONS
ICP with GDM may result in more adverse pregnancy outcomes, which are associated with bile acid concentrations.
PubMed: 38429774
DOI: 10.1186/s13098-024-01294-z -
Journal of Education and Health... 2024Birth weight has a significant impact on perinatal mortality. Therefore, the estimation of fetal weight greatly influences the policies necessary for care during and...
BACKGROUND
Birth weight has a significant impact on perinatal mortality. Therefore, the estimation of fetal weight greatly influences the policies necessary for care during and after delivery. We aimed to investigate Johnson's rule in estimating fetal weight.
MATERIALS AND METHOD
This study was a single-group longitudinal study that was conducted in 6 months from October 2021 to April 2022 on 150 pregnant women in Isfahan-Iran. The sampling method was accessible. Inclusion criteria include being term, singleton, without abnormality, intact membranes, cephalic presentation, and exclusion criteria include diagnosed polyhydramnios or oligohydramnios and mother's abdominal or pelvic known masses. After completing the informed consent, fetal weight was estimated by Johnson's rule and was compared with the birth weight. Descriptive and analytical statistics (mean-standard deviation (SD), number-percentage, t-paired, and Spearman's correlation coefficient) were used to achieve the objectives of the study. The receiver operating characteristic (ROC) curve was also used to determine the sensitivity, specificity, and positive and negative predictive value of Johnson's law.
RESULT
The mean (SD) birth weight was 3032.88 ± 481.11 g and the mean (SD) estimated fetal weight (EFW) by the clinical method was 3152.15 ± 391.95 g. There was a significant difference between the averages ( < 0.001). The percentage error of EFW showed a significant negative correlation (r = -0.286; < 0.05) with gestational age (GA) and a significant positive correlation (r = 0.263; < 0.05) with the fetal head station. The sensitivity and specificity of EFW with Johnson's rule, in normal fetal birth weight, were higher than in low birth weight fetal. The accuracy of EFW with ± 10% of the actual weight was higher in average for gestational age (AGA) (84.3%) and high-for-gestational-age (LGA) (70%) than in low-for-gestational-age (SGA) (4%). The EFW mean percentage error in SGA was higher than in the other two weight groups. This method, especially for AGA and LGA fetuses, can be a suitable alternative to other weight estimation methods.
CONCLUSION
Clinical estimation of weight via Johnson's rule due to availability and no cost can be a suitable method for managing childbirth based on fetal weight.
PubMed: 38525210
DOI: 10.4103/jehp.jehp_1354_22 -
Clinical Case Reports Feb 2024Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
UNLABELLED
Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
ABSTRACT
Congenital myotonic dystrophy (CDM) is a predominantly maternally inherited disease and results from increased numbers of cytosine, thymine, and guanine (CTG) repeats in the unstable DNA regions and presents as hypotonia in the neonatal period and myotonia in adulthood. This report aims to present two cases of CDM. A first-cousin couple was born and hospitalized due to hypotonia at birth and a maternal history of polyhydramnios during this pregnancy. The first-born baby girl was admitted to the NICU with tachypnea and hypotonia, clubfoot, and frog-like posture. The pregnancy was complicated by polyhydramnios. Interestingly, her first cousin was born the next day with a similar picture and history. Myotonia was detected in their mothers. The concurrent presence of hypotonia and polyhydramnios as well as maternal myotonia in a first cousin should be considered CDM until proven otherwise and this was confirmed by the EMG- NCV test.
PubMed: 38333661
DOI: 10.1002/ccr3.8503 -
Annals of Medicine and Surgery (2012) Nov 2023Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). It is...
INTRODUCTION AND IMPORTANCE
Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). It is characterized by a conical thorax, platyspondyly (flat vertebral bodies), and macrocephaly. This disorder can be diagnosed antenatally as early as 13 weeks of gestation.
CASE PRESENTATION
The authors reported a case of thanatophoric dysplasia on USG in a 19 year old young consanguineous female in her second trimester of pregnancy. Ultrasound examination showed a clover leaf-shaped skull, a widened anterior fontanel, a coarse and edematous face, a flattened nasal bridge, a short neck, a low set of ears, shortening of both upper and lower limbs with short fingers, bowed thighs and legs, and a relatively narrow thorax.
CLINICAL DISCUSSION
Lung hypoplasia, polyhydramnios, and hydrops in affected individuals lead to a poor prognosis. Hence, timely intervention should be done to avoid a poor prognosis. However, a mix of sonographic, genetic, histological, and autopsy studies are applied to make the most accurate diagnosis.
CONCLUSION
The authors reported this case due to the rarity of this condition and the need for a systematic and multidisciplinary approach.
PubMed: 37915702
DOI: 10.1097/MS9.0000000000001356 -
JPMA. the Journal of the Pakistan... Nov 2023Foetal akinesia deformation sequence (FADS) represents a group of disorders resulting from absent or diminished in utero foetal mobility. The aetiology is...
Foetal akinesia deformation sequence (FADS) represents a group of disorders resulting from absent or diminished in utero foetal mobility. The aetiology is multifactorial, including genetic, environmental, maternal, and foetal causes. The absence of foetal movements leading to multiple joint contractures, pulmonary hypoplasia, and intrauterine growth restriction are the key features of foetal akinesia deformation sequence. Herein we describe the case of a 30-year-old gravida 4 (para 2+1) who came for foetal ultrasound at 28 weeks of gestation due to decreased foetal movements. Ultrasound showed features of FADS with fixed flexed position of foetal limbs, pulmonary hypoplasia, polyhydramnios, and intrauterine growth restriction. The timely use of ultrasound enables early detection of these cases and aids in appropriate counselling and management.
Topics: Pregnancy; Female; Humans; Adult; Fetal Growth Retardation; Arthrogryposis; Contracture; Ultrasonography, Prenatal
PubMed: 38013544
DOI: 10.47391/JPMA.8513 -
Anais Brasileiros de Dermatologia 2023Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. Because of its rarity and the often-late onset,... (Review)
Review
BACKGROUND
Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. Because of its rarity and the often-late onset, prenatal screening for HI is extremely difficult, and most pregnant women might easily miss the period for optimal examinations.
OBJECTIVE
To summarize the sonographic features of HI for prenatal diagnostic purposes.
METHODS
The authors describe a case of HI with no family history who was diagnosed by using prenatal ultrasound scanning. The sonographic features of HI and the clinical characteristics of pregnant women were summarized by searching relevant literature over nearly two decades.
RESULTS
The unique sonographic presentations including peeling skin, clenched hands and clubfeet, ectropion, flat nose, fetal growth impairment, polyhydramnios and echogenic amniotic fluid may be primarily related to skin disorders in HI fetuses. The authors also identified a novel pathogenic ABCA12 gene mutation and explained the possible pathogenic mechanisms.
STUDY LIMITATIONS
Caution should be exercised in summarizing disease characteristics because of the small number of cases, and the authors are faced with the possibility of incomplete case searching.
CONCLUSIONS
HI has relatively unique sonographic features. Therefore, 2D-ultrasound combined with 3D-ultrasound may be an effective method for the prenatal diagnosis of HI. Moreover, a novel pathogenic ABCA12 gene mutation may provide important clues for future research on the etiology of HI. However, the authors consider that additional studies are needed to provide more evidence for prenatal diagnosis.
Topics: Humans; Pregnancy; Female; Ichthyosis, Lamellar; Prenatal Diagnosis; Skin; Ultrasonography, Prenatal; Mutation
PubMed: 37355352
DOI: 10.1016/j.abd.2022.09.013 -
Pediatric Cardiology Jun 2024Our aim in this study was to investigate whether there is an association between large-for-gestational age (LGA) fetuses and myocardial performance index (MPI). This is...
Our aim in this study was to investigate whether there is an association between large-for-gestational age (LGA) fetuses and myocardial performance index (MPI). This is a cross-sectional study conducted from July 2022 to July 2023. Prospectively gathered data from 65 LGA cases and 65 age and gestational-age (GA)-matched controls were analyzed. Presence of polyhydramnios and diabetes were recorded in the study group. Fetal left ventricular mod-MPI, peak systolic velocity (PSV) of E and A waves, umbilical and middle cerebral artery (MCA) pulsatility indexes (PI) were sonographically measured. Association between these sonographic measures and LGA fetuses were sought. The LGA group had 33 diabetic cases (22 GDM and 11 PGDM). The LGA group had greater mod-MPI (0.51 vs. 0.45, p = 0.0048). The LGA group also had prolonged isovolumetric contraction time (ICT), compared to controls (37 ms vs. 33 ms, p = 0.008). ICT was longer in LGA fetuses with non-diabetic mothers (38 ms vs. 33 ms, p = 0.009). LGA fetuses with polyhydramnios but without diabetic mothers had also longer ICT (39 ms vs. 33 ms, p = 0.002). Mod-MPI was similar in controls and LGA without diabetes/LGA with polyhydramnios but without diabetes subgroups. Our results indicate that fetal mod-MPI values are higher in LGA fetuses and ICT is prolonged among LGA fetuses irrespective of presence of maternal diabetes.
PubMed: 38907872
DOI: 10.1007/s00246-024-03548-z