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BMC Medical Genomics Mar 2022Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on...
BACKGROUND
Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pregnancies with polyhydramnios are limited. The aim of this study is to evaluate the implications of pregnancy with polyhydramnios by CMA testing and routine karyotyping.
METHODS
Data from 131 singleton and 17 twin pregnancies that underwent prenatal CMA testing due to polyhydramnios between May 2017 and May 2021 were reviewed. Enrolled cases were grouped into isolated polyhydramnios (N = 39) and non-isolated polyhydramnios (N = 111). Non-isolated group was further categorized as subgroup of soft markers (n = 59) and non-soft markers (n = 52).
RESULTS
CMA revealed an additional 10 (6.7%) chromosomal aberrations with clinical significance in 9 fetuses from singleton pregnancies and 1 from a twin pregnancy. Six microdeletion/microduplication syndromes were observed, of which 4 were located on chromosome 17. The incremental yields of clinically significant CMA findings in non-isolated polyhydramnios was 8.1%, and the values in fetuses along with soft markers and non-soft markers were 5.1% and 11.5% (p > 0.05), respectively. Only one incidental finding related to neuropathy with liability to pressure palsies was detected from 39 fetuses with isolated polyhydramnios.
CONCLUSIONS
Non-isolated polyhydramnios is associated with several microdeletion/microduplication syndromes, regardless of singleton or twin pregnancies. Our results suggest insufficient evidence to recommend CMA in pregnancies with isolated polyhydramnios.
Topics: Chromosome Aberrations; Female; Fetus; Humans; Karyotyping; Microarray Analysis; Polyhydramnios; Pregnancy; Prenatal Diagnosis
PubMed: 35354480
DOI: 10.1186/s12920-022-01224-w -
Canadian Medical Association Journal Jan 1958
Topics: Amniotic Fluid; Female; Humans; Polyhydramnios; Pregnancy
PubMed: 13489637
DOI: No ID Found -
Sultan Qaboos University Medical Journal Aug 2013Placental tumours include placental chorioangiomas, teratomas, haemangiomas, and haematomas. Placental chorioangiomas are benign vascular tumours and are the most common...
Placental tumours include placental chorioangiomas, teratomas, haemangiomas, and haematomas. Placental chorioangiomas are benign vascular tumours and are the most common placental tumours, with a prevalence of 1%. Large placental chorioangiomas are rare and may lead to pregnancy complications and poor perinatal outcomes. These complications include fetal anaemia, hydrops fetalis, fetal growth restriction, polyhydramnios, and preterm delivery. We report a case of a large placental chorioangioma, the antenatal management and the maternal and fetal outcomes.
PubMed: 23984037
DOI: 10.12816/0003274 -
Indian Pediatrics Apr 2005Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial...
Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes.
Topics: Abnormalities, Multiple; Bone and Bones; Craniofacial Abnormalities; Fatal Outcome; Female; Fingers; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant, Newborn; Male; Nipples; Polyhydramnios; Pregnancy; Scrotum; Syndrome; Toes
PubMed: 15876600
DOI: No ID Found -
Alimentary Pharmacology & Therapeutics Feb 2010Congenital chloride diarrhoea in a newborn is a medical emergency, requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. While... (Review)
Review
BACKGROUND
Congenital chloride diarrhoea in a newborn is a medical emergency, requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. While most of the 250 cases reported arise from Finland, Poland and Arab countries, single cases with this autosomal recessive disorder appear worldwide. Such congenital chloride diarrhoea rarity makes diagnosis difficult. Life-long salt substitution with NaCl and KCl stabilizes fluid, electrolyte and acid-base balance diagnosis. When properly treated, the long-term outcome is favourable.
AIM
To summarize data on congenital chloride diarrhoea diagnosis, pathophysiology and treatment, and to provide guidelines for both acute and long-term management of congenital chloride diarrhoea.
METHODS
Data are based on MEDLINE search for 'chloride diarrhoea', in addition to clinical experience in the treatment of the largest known series of patients.
RESULTS
Treatment of congenital chloride diarrhoea involves (i) life-long salt substitution; (ii) management of acute dehydration and hypokalaemia during gastroenteritis or other infections; and (iii) recognition and treatment of other manifestations of the disease, such as intestinal inflammation, renal impairment and male subfertility.
CONCLUSIONS
This review summarizes data on congenital chloride diarrhoea and provides guidelines for treatment. After being a mostly paediatric problem, adult patients constitute a rare challenge for gastroenterologists worldwide.
Topics: Adolescent; Adult; Alkalosis; Antiporters; Biological Transport; Child; Child, Preschool; Chloride-Bicarbonate Antiporters; Chlorides; Colon; Dehydration; Diagnosis, Differential; Diarrhea; Female; Fluid Therapy; Humans; Hypokalemia; Hyponatremia; Incidence; Infant; Infant, Newborn; Infertility, Male; Inflammatory Bowel Diseases; Kidney Failure, Chronic; Male; Mutation; Patient Compliance; Phenotype; Polyhydramnios; Pregnancy; Prognosis; Sulfate Transporters; Treatment Outcome; Ultrasonography
PubMed: 19912155
DOI: 10.1111/j.1365-2036.2009.04197.x -
Iranian Journal of Public Health May 2022We assessed risk factors, antenatal and intrapartum complications associated with early-onset Gestational diabetes mellitus (GDM) in comparison with late-onset GDM.
BACKGROUND
We assessed risk factors, antenatal and intrapartum complications associated with early-onset Gestational diabetes mellitus (GDM) in comparison with late-onset GDM.
METHODS
This retrospective study included 161 GDM women having singleton pregnancies, without previous medical disorder and delivered at a tertiary care Hospital in Ha'il City, KSA from Dec 2020 till Jun 2021. Women diagnosed at < 24 weeks of pregnancy were grouped as early-onset GDM (n=71) and those diagnosed at ≥ 24 weeks as late-onset GDM (n=90). Both groups were matched for background variables. Chi-square and binary logistic regression analysis were applied with -value significance at 0.05.
RESULTS
Past history of GDM, macrosomia and stillbirth were significant predictors for early-onset GDM ( value 0.000, 0.002 and 0.040 respectively). Regression analysis showed early-onset GDM significantly increases the risk for recurrent urinary tract infections (AOR 2.35), polyhydramnios (AOR 2.81), reduced fetal movements (AOR 2.13), intrauterine fetal demise (AOR 8.06), macrosomia (AOR 2.16), fetal birth trauma (2.58), low APGAR score at birth (AOR 8.06), and neonatal ICU admissions (AOR 2.65). Rate of preterm birth, hypertensive disorders, labor onset (natural vs. induced) and cesarean section and intrapartum maternal complications were same in both groups.
CONCLUSION
Early-onset GDM significantly increases certain maternal (recurrent urinary tract infections, polyhydramnios and reduced fetal movements) and fetal complications (intrauterine fetal demise, macrosomia fetal birth trauma, low APGAR score at birth and neonatal ICU admissions). Most of these adverse pregnancy outcomes can be prevented through early registration and screening, close follow up, growth ultrasounds, and provision of efficient emergency and neonatal care services.
PubMed: 36407740
DOI: 10.18502/ijph.v51i5.9418 -
Nefrologia : Publicacion Oficial de La... May 2012The frequency of pregnancy in women on dialysis is extremely low, but the percentage of successful pregnancies in this context has increased over the years, with some... (Review)
Review
The frequency of pregnancy in women on dialysis is extremely low, but the percentage of successful pregnancies in this context has increased over the years, with some studies placing the survival rate above 70%. These pregnancies are not exempt from both maternal and foetal complications, and so their management requires the joint efforts of nephrologists, gynaecologists, nurses, and nutritionists. Currently, we have been unable to establish consistent systematic treatment from both nephrological and gynaecological specialists in these patients. The main changes that need to be made are: increased time on dialysis, maintaining low levels of pre-dialysis urea, avoiding: maternal hypertension and hypotension, anaemia, urinary tract infections, and fluctuations in electrolytes. Adequate foetal monitoring is also necessary.
Topics: Anemia; Blood Urea Nitrogen; Case Management; Delivery, Obstetric; Female; Fetal Diseases; Fetal Monitoring; Hemodialysis Solutions; Humans; Hypertension, Pregnancy-Induced; Hypertension, Renal; Infant, Newborn; Kidney Failure, Chronic; Malnutrition; Membranes, Artificial; Polyhydramnios; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Pregnancy, High-Risk; Prenatal Care; Renal Dialysis; Survival Rate
PubMed: 22508145
DOI: 10.3265/Nefrologia.pre2012.Jan.11319 -
Frontiers in Endocrinology 2023The prevalence of gestational diabetes mellitus (GDM) and advanced maternal age (AMA, ≥ 35 years) has shown an increasing trend worldwide. This study aimed to evaluate...
BACKGROUND
The prevalence of gestational diabetes mellitus (GDM) and advanced maternal age (AMA, ≥ 35 years) has shown an increasing trend worldwide. This study aimed to evaluate the risk of pregnancy outcomes among younger (20-34 years) and older (≥ 35 years) women with GDM and further analyze the epidemiologic interaction of GDM and AMA on these outcomes.
METHODS
This historical cohort study included 105 683 singleton pregnant women aged 20 years or older between January 2012 and December 2015 in China. Stratified by maternal age, the associations between GDM and pregnancy outcomes were analyzed by performing logistic regression. Epidemiologic interactions were assessed by using relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), and synergy index (SI) with their 95% confidence intervals (95%CIs).
RESULTS
Among younger women, individuals with GDM had a higher risk of all maternal outcomes, preterm birth (relative risk [RR] 1.67, 95%CI 1.50-1.85), low birthweight (RR 1.24, 95%CI 1.09-1.41), large for gestational age (RR 1.51, 95%CI 1.40-1.63), macrosomia (RR 1.54, 95%CI 1.31-1.79), and fetal distress (RR 1.56, 95%CI 1.37-1.77) than those without GDM. Among older women, GDM increased the risk of gestational hypertension (RR 2.17, 95%CI 1.65-2.83), preeclampsia (RR 2.30, 95%CI 1.81-2.93), polyhydramnios (RR 3.46, 95%CI 2.01-5.96), cesarean delivery (RR 1.18, 95%CI 1.10-1.25), preterm birth (RR 1.35, 95%CI 1.14-1.60), large for gestational age (RR 1.40, 95%CI 1.23-1.60), macrosomia (RR 1.65, 95%CI 1.28-2.14) and fetal distress (RR 1.46, 95%CI 1.12-1.90). Additive interactions of GDM and AMA on polyhydramnios and preeclampsia were found, with RERI of 3.11 (95%CI 0.05-6.16) and 1.43 (95%CI 0.09-2.77), AP of 0.51 (95%CI 0.22-0.80) and 0.27 (95%CI 0.07-0.46), and SI of 2.59 (95%CI 1.17-5.77) and 1.49 (95%CI 1.07-2.07), respectively.
CONCLUSION
GDM is an independent risk factor for multiple adverse pregnancy outcomes, and may exert additive interactions with AMA on the risk of polyhydramnios and preeclampsia.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Aged; Diabetes, Gestational; Pregnancy Outcome; Fetal Macrosomia; Cohort Studies; Pre-Eclampsia; Premature Birth; Maternal Age; Polyhydramnios; Fetal Distress; Infant, Newborn, Diseases
PubMed: 37234802
DOI: 10.3389/fendo.2023.1158969 -
Interventional Medicine & Applied... Mar 2013To investigate the perinatal outcomes of cases with idiopathic polyhydramnios.
OBJECTIVE
To investigate the perinatal outcomes of cases with idiopathic polyhydramnios.
STUDY DESIGN
Retrospective analysis of 160 singleton pregnancies that were under routine surveillance at the department of obstetrics from 2008 to 2010 was performed to assess perinatal outcomes. Finally, 59 cases were included as idiopathic polyhydramnios, and 101 cases were included as controls. Preterm delivery (<37 weeks), gestational age at birth, low birth weight (<2500 g), very low birth weight (<1500 g), macrosomia (>4000 g), 1- and 5-min APGAR scores <7, small for gestational age (SGA) fetuses, large for gestational age (LGA) fetuses, C-section rates, number of fetal distress, admission to neonatal intensive care unit (NICU) after delivery, neonatal death within the first 7 days, and deaths before the age of 1 year were selected as perinatal outcome variables.
RESULT
Significantly higher preterm labors and low 1- and 5-min APGAR scores were noted in the idiopathic polyhydramnios group compared with the control group.
CONCLUSION
Although perinatal outcomes are conflicting in literature, idiopathic polyhydramnios warrants close surveillance especially near term.
PubMed: 24265884
DOI: 10.1556/IMAS.5.2013.1.4 -
The Journal of Obstetrics and... Dec 2021To describe a new sonographic feature of the C-sign for prenatal diagnosis of jejunal atresia and evaluate its role in prenatal jejunal atresia, particularly preceding...
OBJECTIVES
To describe a new sonographic feature of the C-sign for prenatal diagnosis of jejunal atresia and evaluate its role in prenatal jejunal atresia, particularly preceding bowel dilatation and polyhydramnios.
METHODS
This was a retrospective study from a tertiary maternal hospital. Patients with prenatal sonographic examination and confirmed small bowel atresia postdelivery were included. All sonographic images were reviewed by two senior sonographers. Comparison of sonographic images between prenatal jejunal and ileal atresia using the C-sign resembles the shape of the entire duodenum and other traditional sonographic features. The control group without bowel atresia was assessed for the presence of the C-sign.
RESULTS
The C-sign and combined bowel dilatation with polyhydramnios were more frequent in jejunal atresia than ileal atresia, but the C-sign can be used to detect jejunal atresia earlier. The C-sign can be more likely to diagnose jejunal atresia in persisting bowel dilatation and polyhydramnios. The C-sign was not reported in any of the control fetuses.
CONCLUSION
The C-sign is a new sonographic feature that can be used to improve the prenatal accuracy and early detection of jejunal atresia. However, further prospective validation is needed.
Topics: Female; Humans; Intestinal Atresia; Jejunum; Pregnancy; Retrospective Studies; Ultrasonography; Ultrasonography, Prenatal
PubMed: 34545663
DOI: 10.1111/jog.15029