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Genes Feb 2023Pathogenic variants in are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal...
Pathogenic variants in are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same variant.
Topics: Female; Humans; Infant, Newborn; Child; Pregnancy; Mutation; p120 GTPase Activating Protein; Port-Wine Stain; Arteriovenous Malformations; GTPase-Activating Proteins
PubMed: 36980822
DOI: 10.3390/genes14030549 -
Geburtshilfe Und Frauenheilkunde Dec 2013Polyhydramnios is defined as a pathological increase of amniotic fluid volume in pregnancy and is associated with increased perinatal morbidity and mortality. Common...
Polyhydramnios is defined as a pathological increase of amniotic fluid volume in pregnancy and is associated with increased perinatal morbidity and mortality. Common causes of polyhydramnios include gestational diabetes, fetal anomalies with disturbed fetal swallowing of amniotic fluid, fetal infections and other, rarer causes. The diagnosis is obtained by ultrasound. The prognosis of polyhydramnios depends on its cause and severity. Typical symptoms of polyhydramnios include maternal dyspnea, preterm labor, premature rupture of membranes (PPROM), abnormal fetal presentation, cord prolapse and postpartum hemorrhage. Due to its common etiology with gestational diabetes, polyhydramnios is often associated with fetal macrosomia. To prevent the above complications, there are two methods of prenatal treatment: amnioreduction and pharmacological treatment with non-steroidal anti-inflammatory drugs (NSAIDs). However, prenatal administration of NSAIDs to reduce amniotic fluid volumes has not been approved in Germany. In addition to conventional management, experimental therapies which would alter fetal diuresis are being considered.
PubMed: 24771905
DOI: 10.1055/s-0033-1360163 -
Sensors (Basel, Switzerland) Jun 2022A fetal ultrasound (US) is a technique to examine a baby's maturity and development. US examinations have varying purposes throughout pregnancy. Consequently, in the... (Review)
Review
A fetal ultrasound (US) is a technique to examine a baby's maturity and development. US examinations have varying purposes throughout pregnancy. Consequently, in the second and third trimester, US tests are performed for the assessment of Amniotic Fluid Volume (AFV), a key indicator of fetal health. Disorders resulting from abnormal AFV levels, commonly referred to as oligohydramnios or polyhydramnios, may pose a serious threat to a mother's or child's health. This paper attempts to accumulate and compare the most recent advancements in Artificial Intelligence (AI)-based techniques for the diagnosis and classification of AFV levels. Additionally, we provide a thorough and highly inclusive breakdown of other relevant factors that may cause abnormal AFV levels, including, but not limited to, abnormalities in the placenta, kidneys, or central nervous system, as well as other contributors, such as preterm birth or twin-to-twin transfusion syndrome. Furthermore, we bring forth a concise overview of all the Machine Learning (ML) and Deep Learning (DL) techniques, along with the datasets supplied by various researchers. This study also provides a brief rundown of the challenges and opportunities encountered in this field, along with prospective research directions and promising angles to further explore.
Topics: Amniotic Fluid; Artificial Intelligence; Female; Humans; Infant, Newborn; Oligohydramnios; Pregnancy; Premature Birth; Prospective Studies
PubMed: 35746352
DOI: 10.3390/s22124570 -
Quantitative Imaging in Medicine and... Jul 2021Examine the effectiveness of prenatal ultrasound diagnostics in the detection of cardiovascular malformations, and their association with polyhydramnios and...
BACKGROUND
Examine the effectiveness of prenatal ultrasound diagnostics in the detection of cardiovascular malformations, and their association with polyhydramnios and oligohydramnios.
METHODS
We examined the fetal ultrasonography and postnatal clinical/fetopathological data of 372 newborns/fetuses over a 7-year period in a tertiary centre. Fetal echocardiography was performed in cases of suspected US findings between 18-32 weeks. During the ultrasound the amniotic fluid amount was measured and the amniotic fluid index (AFI) or largest amniotic fluid pocket was determined.
RESULTS
Prenatal ultrasonographic results and postnatal/fetopathological diagnosis were fully congruent in 236/372 cases (63.4%), and in 66/372 cases of cardiovascular anomalies (17.7%) the discovery was partial, while in 70/372 cases no fetal cardiovascular anomalies were diagnosed during pregnancy (18.8%) (false negative). Cardiovascular malformations were isolated in 255 cases, in 172 of which (67.5%) the results of prenatal ultrasonography and postnatal diagnostics were fully congruent. In 43 cases (16.9%) the prenatal discovery was partial, and in 40 cases (15.7%) there was no prenatal recognition of the malformation. Cardiovascular abnormalities were found as a part of multiple malformations in 76 cases. In 41 fetuses the cardiovascular malformation was associated with chromosomal abnormalities. Cardiovascular malformations were significantly associated with polyhydramnios. Although in some of the cardiovascular malformations the association rate with polyhydramnios was high (AVSD, double outlet right ventricle, tetralogy of Fallot), we found a moderate association rate (19.7%). The association with oligohydramnios was 8.57%.
CONCLUSIONS
Echocardiography plays an important role in the prenatal diagnostics. In cases of polyhydramnios and oligohydramnios, fetal echocardiography should be performed.
PubMed: 34249629
DOI: 10.21037/qims-20-823 -
Australasian Journal of Ultrasound in... Aug 2021Polyhydramnios is common; the majority of cases are idiopathic, but maybe associated with fetal abnormality. Literature suggests the volume of amniotic fluid...
INTRODUCTION
Polyhydramnios is common; the majority of cases are idiopathic, but maybe associated with fetal abnormality. Literature suggests the volume of amniotic fluid discriminates idiopathic from pathological polyhydramnios but is not unanimous. We assessed fetal anomaly incidence amongst women with polyhydramnios and the role of discriminatory variables in identifying pathological cases.
METHODS
Retrospective observational cohort study at an inner-city London fetal medicine centre. Records for patients referred and/or diagnosed with polyhydramnios were reviewed as well as maternal/fetal demographics, amongst singleton pregnancies using the Astraia™ database from January 2015-2016. Estimated fetal weight was calculated using the Hadlock model (biometry undertaken at diagnosis). Student's t-test/one-way ANOVA compared means; chi-squared tests compared proportions.
RESULTS
120 cases were identified. 36 (30%) had fetal abnormality. There was no difference in AFI between fetuses with an abnormality and without (26.7 vs 25.2 cm, P = 0.22). AFI was normalised for weight (AFI (cm)/estimated fetal weight (kg)): AFI/kg was significantly different between cases with fetal abnormality and without (24.4 vs 16.7 cm/kg, P < 0.001) - incidence of abnormality increased with increasing AFI/kg (P = 0.007). Early gestational diagnosis was associated with higher rates of anomaly (P = 0.004). Differences in AFI/kg between those with and without abnormality were not significant when adjusted for gestation. AFI was significantly higher in cases of abnormality diagnosed at later gestation (P = 0.005).
CONCLUSION
Excess volume of amniotic fluid alone does not denote abnormality. Earlier gestations and higher AFI/kg corresponded with significantly increased rates of anomaly. However, the latter is a result of confounding by gestation, which is closely correlated with fetal weight.
PubMed: 34765423
DOI: 10.1002/ajum.12247 -
Pediatric Research Jan 2023The pathogenesis of bronchopulmonary dysplasia (BPD) is multifactorial, and there are limited data about prenatal exposures and risk of BPD.
BACKGROUND
The pathogenesis of bronchopulmonary dysplasia (BPD) is multifactorial, and there are limited data about prenatal exposures and risk of BPD.
STUDY DESIGN
Our study performed parallel analyses using a logistic regression model in a cohort of 4527 infants with data from a curated registry and using a phenome wide association study (PheWAS) based on ICD9/10-based phecodes. We examined 20 prenatal exposures from a neonatal intensive care unit (NICU) curated registry database related to pregnancy and maternal health as well as 94 maternal diagnosis phecodes with a PheWAS analysis.
RESULT
In both the curated registry and PheWAS analyses, polyhydramnios was associated with an increased risk of BPD (OR 5.70, 95% CI 2.78-11.44, p = 1.37 × 10).
CONCLUSION
Our data suggest that polyhydramnios may be a clinical indicator of premature infants at increased risk for bronchopulmonary dysplasia. Combining curated registry data with PheWAS analysis creates a valuable tool to generate hypotheses.
IMPACT
Polyhydramnios was significantly associated with bronchopulmonary dysplasia in both a curated registry and by ICD coding analysis with a phenome wide association study (PheWAS). Preterm polyhydramnios may be a clinical indicator of infants at increased risk for developing bronchopulmonary dysplasia after preterm birth. Combining curated registry with PheWAS analysis creates a valuable tool to generate hypotheses about perinatal risk factors and morbidities associated with preterm birth.
Topics: Infant; Pregnancy; Female; Infant, Newborn; Humans; Bronchopulmonary Dysplasia; Polyhydramnios; Premature Birth; Gestational Age; Risk Factors; Retrospective Studies
PubMed: 35393523
DOI: 10.1038/s41390-022-02043-6 -
Australasian Journal of Ultrasound in... May 2013: Amniotic fluid, once thought to merely provide protection and room for necessary movement and growth for the fetus, is now understood to be a highly complex and... (Review)
Review
: Amniotic fluid, once thought to merely provide protection and room for necessary movement and growth for the fetus, is now understood to be a highly complex and dynamic system that is studied as a data point to interpret fetal wellbeing. : Assessment of amniotic fluid volume is now routine when performing a sonographic evaluation of fetal status and is an important consideration in the assessment and management of perinatal morbidity and mortality. In this review, we will cover the dynamics that affect amniotic fluid volume, review methods for measurement and quantification of volume, review definitions for normative data as related to neonatal outcomes, and provide evidence based guidance on the workup and management options for oligoydramnios and polyhydramnios in singleton and twin pregnancies. : When abnormalities of fluid exist, appropriate workup to uncover the underlying etiology should be initiated as adverse fetal outcomes are sometimes associated with these variations from normalcy.
PubMed: 28191176
DOI: 10.1002/j.2205-0140.2013.tb00167.x -
Journal of Obstetrics and Gynaecology... Oct 2015To study perinatal outcome in idiopathic polyhydramnios.
OBJECTIVES
To study perinatal outcome in idiopathic polyhydramnios.
METHODS
Case-control study was conducted in 500 pregnant women with idiopathic polyhydramnios (study group) and 500 normal pregnant women (control group) attending the outpatient department of SHKM Medical College, Haryana. Perinatal outcomes were recorded in both the groups.
RESULTS
Out of 500 cases with idiopathic polyhydramnios, maximum cases were diagnosed between 28 and 36 weeks of pregnancy (84.6 %), and maximum presented with mild polyhydramnios (82 %). In the study and control groups, there were no statistically significant differences in preeclampsia and gestational hypertension (p = 0.445 and p = 0.230). In the study and control groups, 74.6 and 79.6 % women, respectively, had normal vaginal delivery (p = 0.250). The study group recorded much higher number of preterm deliveries than the control group (54 %) (p = 0.000). In the study group, 51.8 % women had maternal complications, while in the control group, 13.6 % women had obstetrical complications. The study group recorded higher perinatal mortality (10.4 %) than the control group.
CONCLUSIONS
Idiopathic polyhydramnios is associated with higher perinatal morbidity and mortality than normal pregnancy.
PubMed: 26405400
DOI: 10.1007/s13224-014-0625-1 -
Journal of Ultrasound in Medicine :... May 2018Polyhydramnios and placentomegaly are commonly observed in nonimmune hydrops fetalis (NIHF); however, whether their ultrasonographic identification is relevant for...
OBJECTIVES
Polyhydramnios and placentomegaly are commonly observed in nonimmune hydrops fetalis (NIHF); however, whether their ultrasonographic identification is relevant for prognosis is controversial. We evaluated outcomes of fetal or neonatal death and preterm birth (PTB) in cases of NIHF alone and in those with polyhydramnios and/or placentomegaly (P/PM).
METHODS
We conducted a retrospective cohort of singletons with NIHF evaluated between 1994 and 2013. Nonimmune hydrops fetalis was defined as 2 or more abnormal fluid collections, including ascites, pericardial effusion, pleural effusion, and skin edema. Primary outcomes were intrauterine fetal demise (IUFD) and neonatal death. Secondary outcomes were PTB (<37, < 34, and <28 weeks) and spontaneous PTB. Outcomes were compared between cases of NIHF alone and NIHF with P/PM.
RESULTS
A total of 153 cases were included; 21% (32 of 153) had NIHF alone, and 79% (121 of 153) had NIHF with P/PM. There was no significant difference in neonatal death (38.1% versus 43.0%; P = .809) between the groups. Intrauterine fetal demise was seen more frequently in NIHF alone (34.4% versus 17.4%; P = .049). Nonimmune hydrops fetalis-with-P/PM cases were more likely to deliver before 37 weeks (80.0% versus 57.1%; P = .045) and before 34 weeks (60.0% versus 28.6%; P = .015) and to have spontaneous PTB (64.4% versus 33.3%; P = .042). Adjusted odds ratios accounting for the etiology of NIHF supported these findings, with the exception of IUFD.
CONCLUSIONS
Compared to NIHF alone, pregnancies with NIHF and P/PM had a lower risk of IUFD and were at increased risk of PTB (<37 and <34 weeks) and spontaneous PTB. This information may help providers in counseling patients with NIHF and supports the need for close antenatal surveillance.
Topics: Adolescent; Adult; California; Causality; Comorbidity; Female; Fetal Death; Humans; Hydrops Fetalis; Infant; Infant Death; Infant, Newborn; Middle Aged; Placenta; Placenta Diseases; Polyhydramnios; Pregnancy; Premature Birth; Retrospective Studies; Ultrasonography, Prenatal; Young Adult
PubMed: 29076544
DOI: 10.1002/jum.14462 -
Journal of Medical Genetics Apr 1992A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and...
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in addition to coronal bilateral craniosynostosis was observed at necropsy. There was also bilateral radial agenesis, oligodactyly of the hands and feet, a midline facial angioma, and a scrotally positioned anus, all of which have been described in some of the 10 previously reported cases. Microcephaly, erythroblastosis of the liver, and pancreatic islet cell hypertrophy were also noted.
Topics: Abnormalities, Multiple; Craniosynostoses; Humans; Infant, Newborn; Male; Radius; Syndrome
PubMed: 1583650
DOI: 10.1136/jmg.29.4.266