3,489 results match your criteria Polyhydramnios


Stillbirths in women with pre-gravid obesity.

J Perinat Med 2018 Nov 29. Epub 2018 Nov 29.

Department of Obstetrics and Gynecology, Kaplan Medical Center, affiliated with the Hadassah-Hebrew University School of Medicine, Jerusalem, Rehovot, Israel.

Objective To determine the association between pre-gravid obesity and stillbirth. Methods A retrospective study of a population-based dataset of births at ≥34 weeks' gestation. We excluded fetal deaths due to lethal anomalies and intrapartum fetal deaths. Read More

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November 2018
1 Read

Delivery mode and perinatal outcomes after diagnosis of oligohydramnios at term in China.

J Matern Fetal Neonatal Med 2018 Nov 28:1-181. Epub 2018 Nov 28.

b Department of Obstetrics and Gynecology , Brigham and Women's Hospital , Harvard Medical School , Boston , USA.

Objective: The purpose of this study is to assess the incidence of oligohydramnios at term and evaluate whether mode of delivery in patients with oligohydramnios influences perinatal outcomes in China.

Methods: A cross sectional survey of all deliveries in 39 hospitals in China from 1 January to 31 December, 2011 was evaluated for mode of delivery and perinatal outcomes in women with oligohydramnios compared to those without known oligohydramnios after excluding preterm births, polyhydramnios, and oligohydramnios secondary to premature rupture of membranes.

Results: Oligohydramnios complicated 3954 (4. Read More

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November 2018
1 Read

Twin pregnancy in a patient on chronic haemodialysis who already had three pregnancies.

J Nephrol 2018 Nov 26. Epub 2018 Nov 26.

Department of Nephrology, Dialysis and Hypertension, Edouard Herriot Hospital, Hospices Civils de Lyon, 5 place d'Arsonval, 69003, Lyon, France.

Pregnancy in women with end-stage renal disease is rare. Multiple pregnancies carry a high risk of complications even in healthy individuals. We report the case of a 36-year-old woman who had four pregnancies while she was on dialysis, including one twin pregnancy. Read More

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November 2018
3 Reads

Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.

Eur J Paediatr Neurol 2018 Sep 11. Epub 2018 Sep 11.

Departments of Child Health, Obstetrics and Gynaecology and Radiology, University Hospital Southampton, United Kingdom; Clinical and Experimental Sciences, University of Southampton, United Kingdom.

Fetal stroke is an important cause of cerebral palsy but is difficult to diagnose unless imaging is undertaken in pregnancies at risk because of known maternal or fetal disorders. Fetal ultrasound or magnetic resonance imaging may show haemorrhage or ischaemic lesions including multicystic encephalomalacia and focal porencephaly. Serial imaging has shown the development of malformations including schizencephaly and polymicrogyra after ischaemic and haemorrhagic stroke. Read More

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September 2018
2 Reads

Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?

Cleft Palate Craniofac J 2018 Nov 19:1055665618811503. Epub 2018 Nov 19.

2 Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA, USA.

Objective:: The purpose of this study was to determine whether gestational amniotic fluid level abnormalities were associated with postnatal syndromic status in a series of patients with Robin sequence (RS).

Design:: Retrospective study of participants with RS at Boston Children's Hospital from 1967 to 2017. Participants were divided into syndromic and nonsyndromic groups. Read More

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November 2018
2 Reads

Pregnancy complications and adverse outcomes in placental chorioangioma: a retrospective cohort analysis.

J Matern Fetal Neonatal Med 2018 Nov 26:1-5. Epub 2018 Nov 26.

a Zhejiang University School of Medicine Women's Hospital , Hangzhou , China.

Objective: To measure the relative risk of pregnancy complications and adverse outcomes in women with placental chorioangioma, and postnatal developmental deficiencies in their offspring.

Methods: We designed a retrospective cohort study using records from 140,387 pregnancies at our hospital between 1 January, 2008 and 1 July, 2017. Follow-up of children in the placental chorioangioma group was conducted by phone interview. Read More

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November 2018
4 Reads

Fetal Head and Neck Masses: MRI Prediction of Significant Morbidity.

AJR Am J Roentgenol 2018 Nov 13:1-7. Epub 2018 Nov 13.

2 Department of Radiology, The University of Texas Southwestern Medical Center, Dallas, TX.

Objective: The purpose of this study is to determine which MRI parameters of fetal head and neck masses predict high-morbidity neonatal outcomes, including ex utero intrapartum treatment (EXIT) procedure.

Materials And Methods: This retrospective study (2004-2016) included parameters of polyhydramnios (based on largest vertical pocket), mass effect on the trachea, mass midline extension, and morphologic grade and size of masses. The morbid cohort included those requiring an EXIT procedure, difficult intubation at delivery, or lethal outcome. Read More

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November 2018
2 Reads

Two neonates with Bartter syndrome.

J Pak Med Assoc 2018 Nov;68(11):1721-1723

Children hospital, Pakistan Institute of Medical Sciences, Islamabad.

Bartter syndrome is an autosomal recessive disorder caused by gene mutations that involve hypokalaemia, hypochloraemia and metabolic alkalosis along with raised serum renin, hyperaldosteronism and normal blood pressure. We report two cases of neonatal Bartter syndrome. Case 1 was a product of non-consanguineous marriage and mother had unexplained polyhydramnios in pregnancy while case 2 was a product of consanguineous marriage. Read More

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November 2018
5 Reads

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.

Obstet Gynecol 2018 Dec;132(6):1368-1375

Genetics Institute, Carmel Medical Center, Haifa, the Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, the Genetics Institute, Tel Aviv Sourasky Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, the Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, the Genetic Institute, Assaf Harofeh Medical Center, Zerifin, the Medical Genetics Institute, Shaare Zedek Medical Center and the Hebrew University School of Medicine, Jerusalem, the Genetic Institute, Soroka University Medical Center, Faculty of Health Sciences Ben-Gurion University of the Negev, Negev, the Institute of Human Genetics, Haemek Medical Center, Afula, the Medical Genetics Institute, Meir Medical Center, Kfar Saba, the Genetics Institute, Kaplan Medical Center, Rehovot, affiliated to the Hebrew University and Hadassah Medical School, Jerusalem, the Genetics Institute, Bnai Zion Medical Center, Haifa, the Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Cytogenetic Maccabi Health Care, Tel Aviv, and Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

Objective: To examine chromosomal microarray analysis results in pregnancies with various ultrasonographic anomalies and to characterize the copy number variants in diverse fetal phenotypes.

Methods: We retrospectively examined chromosomal microarray analyses of amniocenteses performed nationwide as a result of fetal ultrasonographic anomalies (structural defects, fetal growth restriction, and polyhydramnios) between January 2013 and September 2017. The rate of abnormal chromosomal microarray findings was compared between the different phenotypes and with a previously described control population of 15,225 pregnancies with normal ultrasonographic findings. Read More

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December 2018
4 Reads

Serial Third-Trimester Ultrasonography Compared With Routine Care in Uncomplicated Pregnancies: A Randomized Controlled Trial.

Obstet Gynecol 2018 Dec;132(6):1358-1367

Department of Obstetrics, Gynecology, and Reproductive Sciences, McGovern Medical School, and the Center for Clinical Research and Evidence-Based Medicine, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, Texas.

Objective: Among uncomplicated pregnancies, serial third-trimester ultrasound examinations identified significantly more cases with a composite of fetal growth or amniotic fluid abnormalities (27%) than did routine fundal height measurements (8%).

Methods: Women without complications between 24 0/7 and 30 6/7 weeks of gestation were randomized (NCT0270299) to either routine care (control arm) or ultrasound examination every 4 weeks (intervention arm). The primary outcome was a composite of abnormalities of fluid volume and growth: oligohydramnios or polyhydramnios; fetal growth restriction; or large for gestational age. Read More

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December 2018
8 Reads

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.

J Child Neurol 2018 Dec 12;33(14):925-929. Epub 2018 Oct 12.

2 Department of Neurology, Division of Child Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.

Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single-base pair duplication. Read More

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December 2018
6 Reads

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV.

JIMD Rep 2018 Oct 12. Epub 2018 Oct 12.

Department of Neonatology, The Children's Hospital at OU Medical Center, Oklahoma City, OK, USA.

Glycogen storage disease type IV (GSD-IV), or Andersen disease, is a rare autosomal recessive disorder that results from the deficiency of glycogen branching enzyme (GBE). This in turn results in accumulation of abnormal glycogen molecules that have longer outer chains and fewer branch points. GSD-IV manifests in a wide spectrum, with variable phenotypes depending on the degree and type of tissues in which this abnormal glycogen accumulates. Read More

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October 2018
15 Reads

The Relationship between the Fetal Volume-Corrected Renal Artery Pulsatility Index and Amniotic Fluid Volume.

Fetal Diagn Ther 2018 Oct 9:1-6. Epub 2018 Oct 9.

Center for Fetal Therapy, Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA.

Introduction: To evaluate if the volume-corrected renal artery pulsatility index (vcRA-PI) is more closely related to the amniotic fluid level than the uncorrected or the gestational age (GA)-adjusted RA-PI.

Methods: RA-PI and kidney volume were measured in low- and high-risk pregnancies at 17-38 weeks. Fetal anomalies associated with nonrenal causes of abnormal amniotic fluid volume were excluded. Read More

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October 2018
6 Reads

Changes in Intra-Amniotic, Fetal Intrathoracic, and Intraperitoneal Pressures with Uterine Contraction: A Report of Three Cases.

Case Rep Obstet Gynecol 2018 12;2018:4281528. Epub 2018 Sep 12.

Department of Fetal-Maternal Medicine, Nagara Medical Centre, 1300-7, Nagara, Gifu 502-8558, Japan.

Intra-amniotic, fetal intrathoracic, and intraperitoneal pressures during pregnancy have been previously investigated. However, to our knowledge, changes in these pressures during uterine contractions have not been reported. Herein, we present three cases of polyhydramnios, fetal pleural effusion, and fetal ascites, in which intra-amniotic, fetal intrathoracic, intraperitoneal pressures increased with uterine contractions. Read More

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September 2018
2 Reads

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Am J Med Genet A 2018 Oct 5. Epub 2018 Oct 5.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Pallister-Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malformations. The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder. Recognition of prenatal findings that should raise a suspicion of PKS is complicated by the fragmentation of data currently available in the literature and challenges in diagnosing a mosaic diagnosis on prenatal testing. Read More

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October 2018
11 Reads

Neonatal hypotonia: is it a diagnostic challenge?

Rev Neurol 2018 Oct;67(8):287-292

Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.

Introduction: Hypotonia is a frequent sign of disease in newborns. However, it's a nonspecific clinical finding: may be the presentation form of a systemic or neurological disease.

Aims: To study the main causes of neonatal hypotonia as well as to evaluate the diagnostic accuracy of the anamnesis and physical examination of the hypotonic newborn. Read More

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October 2018
12 Reads

Ultrasound evaluation of fetal critical aortic stenosis using the left atrium area/cardiac area ratio and the Doppler patterns in the pulmonary veins.

J Med Ultrason (2001) 2018 Oct 4. Epub 2018 Oct 4.

Department of Obstetrics and Gynecology, Juntendo University Shizuoka Hospital, 1129 Nagaoka, Izunokuni-sh, Shizuoka, 479-2211, Japan.

In fetal critical aortic stenosis (AS), a double reverse pattern in the pulmonary veins (PVs) is associated with a poor prognosis. We evaluated the hemodynamic changes using PV Doppler and the left atrium area/cardiac area (LA/CA) ratio in a fetus at 28 weeks of gestation with critical AS complicated with hydrops fetalis, polyhydramnios, and cardiac abnormality. A markedly enlarged LA and severe mitral regurgitation with critical AS were detected, with LA/CA ratio = 0. Read More

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October 2018
2 Reads

Transient Isolated Polyhydramnios and Perinatal Outcomes.

Ultraschall Med 2018 Sep 25. Epub 2018 Sep 25.

Lis Maternity and Women's Hospital, Tel-Aviv Sourasky Medical Center, affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Purpose:  To evaluate labor and perinatal outcomes of transient isolated polyhydramnios.

Materials And Methods:  A retrospective cohort study (2008 - 2013) at a university-affiliated, tertiary medical center. Eligibility was limited to patients with singleton gestations, no maternal diabetes or known structural/chromosomal anomalies, and no rupture of the membranes prior to delivery, at > 34 weeks of gestation. Read More

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September 2018
12 Reads

A novel differential diagnosis to nonobstructive diffuse and dilated bowel loops with polyhydramnios: Bartter syndrome.

J Clin Ultrasound 2018 Sep 23. Epub 2018 Sep 23.

Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel.

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September 2018
4 Reads

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.

Am J Med Genet A 2018 Sep 23. Epub 2018 Sep 23.

Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

Nonimmune hydrops fetalis (NIHF) is a rare disorder with a high perinatal mortality of at least 50%. One cause of NIHF is generalized lymphatic dysplasia (GLD), a rare form of primary lymphedema of the extremities and systemic involvement including chylothoraces and pericardial effusions. An autosomal recessive form of GLD has been described, caused by variants in the PIEZO1 gene. Read More

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September 2018
1 Read

Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study.

Medicine (Baltimore) 2018 Sep;97(38):e12437

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Fetal adducted thumbs have been described in association with hydrocephalus and other abnormalities, but in cases without other structural malformations the determination of prognosis and recurrence risk is challenging. The aim of our study is to analyze the characteristics, natural history, and postnatal outcome of such cases.A retrospective study was conducted over a period of 4 years in a tertiary referral center. Read More

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September 2018
4 Reads

Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.

J Hum Genet 2018 Dec 19;63(12):1231-1239. Epub 2018 Sep 19.

Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

We present a case of a newborn female with multiple anomalies demonstrating that the causes of imprinting disorders rely not only on the parent-of-origin of the chromosomal aberrations, but also the scope of genes contained in the imprinted region. The newborn female presented with prenatal polyhydramnios, neonatal respiratory distress, distal contractures, abdominal hernia, bell-shaped thorax, and abnormal ribs. The neonate required mechanical ventilation due to apnea, underwent surgery for laryngomalacia, and showed development delay by age 11 months. Read More

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December 2018

Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia.

J Gynecol Obstet Hum Reprod 2018 Dec 16;47(10):577-579. Epub 2018 Sep 16.

Pôle Femme Et Enfant, CHU Estaing, 1, place Lucie-et-Raymond-Aubrac, 63003 Clermont-Ferrand Cedex 1, France; Equipe "Translational approach to epithelial injury and repair", Université Clermont-Auvergne, CNRS, Inserm, GReD, 63000 Clermont-Ferrand, France. Electronic address:

A laryngotracheoesophageal cleft, commonly called laryngeal cleft (LC), is a congenital malformation of the posterior part of the larynx creating an abnormal communication between the laryngotracheal axis and the pharyngoesophageal axis. The prenatal ultrasonographic features associating absent stomach, polyhydramnios and mediastinal "pouch sign" are usually considered pathognomonic for esophageal atresia. This observation demonstrates that they can also correspond to a severe form of laryngotracheoesophageal cleft extending to the carina. Read More

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December 2018

A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.

Eur J Med Genet 2018 Sep 15. Epub 2018 Sep 15.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

Congenital central hypoventilation syndrome is a disorder of respiratory control caused by mutations in the paired-like homeobox 2B gene. Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease. Variant Hirschsprung's disease is a rarer disorder that does not meet the diagnostic criteria of Hirschsprung's disease, although severe functional bowel obstruction persists. Read More

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September 2018
1 Read

Congenital cystic adenomatous malformation: a case report and a literature review.

Acta Med Litu 2018 ;25(2):95-100

Clinic of Obstetrics and Gynaecology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

Background: A congenital cystic adenomatoid malformation (CCAM) is a foetal pulmonary development abnormality caused by airway dysgenesis that is characterized by cystic or adenomatous lesions in the terminal bronchioles. The size of the mass, the degree of the mediastinal shift, and the presence of hydrops and polyhydramnios can all affect the severity of a case. Treatment can be initiated at early stages by applying prenatal and postnatal methods. Read More

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January 2018
1 Read

Risk Factors for Adverse Fetal Outcome in Hemodialysis Pregnant Women.

Kidney Int Rep 2018 Sep 3;3(5):1077-1088. Epub 2018 May 3.

Obstetrics and Gynecology Department, Sao Paulo University Medical School, Sao Paulo, Brazil.

Introduction: Pregnancy in women on dialysis is associated with a higher risk of adverse events, and the best care for this population remains to be established.

Methods: In this series, we aimed to identify factors associated with the risk of adverse fetal outcomes among 93 pregnancies in women on hemodialysis. Dialysis dose was initially assigned according to the presence of residual diuresis, body weight, and years on dialysis. Read More

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September 2018
1 Read

Optimal management of umbilical cord prolapse.

Int J Womens Health 2018 21;10:459-465. Epub 2018 Aug 21.

Department of Obstetrics and Gynecology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt,

Umbilical cord prolapse (UCP) is an uncommon obstetric emergency that can have significant neonatal morbidity and/or mortality. It is diagnosed by seeing/palpating the prolapsed cord outside or within the vagina in addition to abnormal fetal heart rate patterns. Women at higher risk of UCP include multiparas with malpresentation. Read More

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August 2018
2 Reads

First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature.

J Ultrasound Med 2018 Aug 31. Epub 2018 Aug 31.

Fetal Imaging Unit, FETALMED-Maternal-Fetal Diagnostic Center, Santiago, Chile.

First-trimester ultrasound findings in 4 fetuses with agnathia-otocephaly complex are described. In addition, information from 3 cases reported in the literature was also reviewed, for a total of 7 cases analyzed. All 7 fetuses presented with agnathia and 6 with ventrocaudal displacement of the ears (melotia/synotia). Read More

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August 2018
9 Reads
1.530 Impact Factor

Predicting Survival of Congenital Diaphragmatic Hernia on the First Day of Life.

World J Surg 2018 Aug 30. Epub 2018 Aug 30.

Department of Pediatric Surgery, Seoul National University College of Medicine, Children's Hospital, 101, Daehang-ro, Yeongeon-dong, Jongro-Gu, Seoul, 03080, Korea.

Background: This study aimed to determine perinatal risk factors for 30-day mortality of congenital diaphragmatic hernia (CDH) patients and develop a prognostic index to predict 30-day mortality of CDH patients. Identifying risk factors that can prognosticate outcome is critical to obtain the best management practices for patients.

Methods: A retrospective study was performed for patients who were diagnosed with CDH from November 2000 to August 2016. Read More

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August 2018
8 Reads

Monochorionic-diamniotic twin pregnancy complicated by twin reversed arterial perfusion sequence and retroplacental hematoma - a case report.

Med Ultrason 2018 Aug;20(3):396-398

2nd Obstetrics and Gynecology Department, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Twin reversed arterial perfusion (TRAP) sequence is a rare and severe complication specific to monochorionic twin pregnancies, involving the presence of an acardiac twin and a structurally normal co-twin (pump twin). We report on the case of a33-year-old female with a biamniotic monochorionic twin pregnancy complicated with TRAP sequence and polyhydramnios. The patient underwent fetoscopic termination of the acardiac twin and at 34 gestational weeks (GW) was readmitted with aretroplacental hematoma. Read More

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August 2018
1 Read

Predictors of a successful external cephalic version: A population-based study of Washington state births.

Women Birth 2018 Aug 24. Epub 2018 Aug 24.

Department of Epidemiology, University of Washington, Seattle, WA, United States.

Background: Breech presentation affects approximately 3% of women with singleton pregnancies. External cephalic version is a manual procedure that reorients a foetus to cephalic position in preparation for birth, reducing indications for caesarean birth. However, unsuccessful attempts are associated with some adverse health outcomes. Read More

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August 2018
3 Reads

Histopathological examination of the placenta in twin pregnancies.

APMIS 2018 Jul;126(7):626-637

Department of Pathology, Cork University Hospital, Cork, Ireland.

Twin placentas are frequently received in pathology laboratories for evaluation of chorionicity and because twin pregnancies have higher rates of pregnancy complications. In addition to pathologies common in singleton pregnancies, twin pregnancies have increased frequencies of complications such as preterm birth and velamentous cord insertions and also are affected by complications unique to multiple pregnancies that are mediated by vascular connections between the placental territories of certain types of twins. This article aims to provide an approach to examination of the twin placenta for practicing pathologists or those interested in placental pathology while outlining the key characteristics of twin complications as seen in the placenta. Read More

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July 2018
7 Reads

Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations.

Horm Res Paediatr 2018 15;90(2):132-137. Epub 2018 Aug 15.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Background: Fetal goiter is only rarely observed in pregnant women without autoimmune thyroid disorders, and there is no epidemiological data on its pathophysiology. Dual oxidase maturation factor 2 (DUOXA2), together with dual oxidase 2, serves pivotal roles in thyroid hormone biosynthesis. To date, all reported patients with DUOXA2 mutations were diagnosed postnatally through newborn screening for congenital hypothyroidism. Read More

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August 2018
8 Reads

The effect of increased amnion volume severity on fetal Doppler indices and perinatal outcomes in idiopathic polyhydramnios.

J Matern Fetal Neonatal Med 2018 Oct 30:1-7. Epub 2018 Oct 30.

c Medical Faculty, Department of Obstetrics and Gynecology , Nigde Omer Halisdemir University , Nigde , Turkey.

Aim: To evaluate the relationship between polyhydramnios severity and alterations in Doppler indices and perinatal outcomes in idiopathic polyhydramnios.

Methods: This prospective case control study was conducted in a tertiary hospital with 173 singleton pregnancies between 29 and 41 weeks gestational age between May 2015 and December 2016. Polyhydroamnios is classified as mild (amniotic fluid index 25-30 cm), moderate (30. Read More

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October 2018
1 Read

[Ichthyosis prematurity syndrome: Two new cases].

Ann Dermatol Venereol 2018 Oct 1;145(10):603-606. Epub 2018 Aug 1.

Service de dermatologie, centre de référence des maladies rares de la peau, hôpital Larrey, CHU Toulouse, 24, chemin de Pouvourville, 31059 Toulouse cedex 9, France; UDEAR - UMR 1056 Inserm, université de Toulouse, hôpital Purpan, 31300 Toulouse, France.

Background: Ichthyosis prematurity syndrome is a rare syndromic form of ichthyosis caused by mutations in FATP4, which plays a central role in the transport and activation of fatty acids in the epidermis and in epidermal barrier function. Despite stereotypical clinical presentation in the neonatal period, the diagnosis is not well known by clinicians. Herein we report two new cases. Read More

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October 2018
2 Reads

Placental Chorioangioma with Nonimmune Hydrops Fetalis.

South Med J 2018 08;111(8):457-459

From the Department of Pediatrics, West Virginia University School of Medicine, Charleston, and the Departments of Obstetrics and Gynecology, Pathology, and Pediatrics, Marshall University Joan C. Edwards School of Medicine, Huntington, WV.

A 38-year-old woman was found to have a large placental chorioangioma. The fetus was studied using ultrasound. The pregnancy became complicated by hydrops fetalis, polyhydramnios, and abruptio placenta. Read More

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August 2018
10 Reads

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

Am J Med Genet A 2018 Aug 28;176(8):1735-1741. Epub 2018 Jul 28.

Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11. Read More

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August 2018
6 Reads

SMFM Consult Series #46: Evaluation and management of polyhydramnios.

Am J Obstet Gynecol 2018 Oct 23;219(4):B2-B8. Epub 2018 Jul 23.

Society for Maternal-Fetal Medicine, 409 12 St. SW, Washington, DC 20024, USA.

Polyhydramnios, or hydramnios, is an abnormal increase in the volume of amniotic fluid. Identification of polyhydramnios should prompt a search for an underlying etiology. Although most cases of mild polyhydramnios are idiopathic, the 2 most common pathologic causes are maternal diabetes mellitus and fetal anomalies, some of which are associated with genetic syndromes. Read More

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October 2018
21 Reads

Updating the amniotic fluid index nomograms according to perinatal outcome.

J Matern Fetal Neonatal Med 2018 Jul 18:1-7. Epub 2018 Jul 18.

a Helen Schneider Hospital for Women, Rabin Medical Center , Beilinson Hospital , Petach Tikva , Israel.

Background: The two most commonly used nomograms for amniotic fluid index (AFI) were developed by Moore and Cayle and Magann et al. However, there are several inconsistencies between the two methods.

Objective: The aim of the study was to determine whether these differences carry clinical significance. Read More

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July 2018
4 Reads

Outcomes of Women Delivering at Very Advanced Maternal Age.

J Womens Health (Larchmt) 2018 Nov 17;27(11):1378-1384. Epub 2018 Jul 17.

Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center El Paso , El Paso, Texas.

Background: The purpose of this study was to evaluate the maternal outcome in women with very advanced maternal age (VAMA) at childbirth (>45 years) compared to advanced maternal age (35-39 and 40-44 years).

Methods: Retrospective cohort study using the Texas Public Use Data File, years 2013-2014. Maternal age was a three-level variable: 35-39 (referent), 40-44, and 45-59 years (VAMA). Read More

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November 2018
2 Reads

Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy.

J Neuromuscul Dis 2018;5(3):331-340

Division of Pediatric Neurology, Children's Hospital London Health Science Centre London, ON, Canada.

Background: Congenital myotonic dystrophy (CDM) is the neonatal onset and most severe presentation of Myotonic Dystrophy type 1. Since it first description, perinatal complications have been detailed including prolonged hospital stay, respiratory and feeding therapy during the neonatal period, although long-term complications are less documented.

Objective: Present a prospective cohort of CDM and compare it to the literature of other CDM case series, to adequately describe and contrast the prenatal, neonatal and infancy features of CDM. Read More

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November 2018
1 Read

The rare solid fetal lung lesion with T2-hypointense components: prenatal imaging findings with postnatal pathological correlation.

Pediatr Radiol 2018 Jul 14. Epub 2018 Jul 14.

Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Background: At fetal MR, congenital lung lesions are usually T2 hyperintense with respect to normal lung parenchyma. Some lesions, however, demonstrate unusual patterns of T2 hypointensity, sometimes in a rosette-like pattern. These lesions usually present a diagnostic conundrum. Read More

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July 2018
1 Read

Foetal goitrous hypothyroidism - easy to recognise, difficult to treat. Is combined intra-amniotic and intravenous L-thyroxine therapy an option?

Endokrynol Pol 2018 29;69(4). Epub 2018 Jun 29.

2nd Department of Obstetrics and Gynaecology, Centre of Medical Postgraduate Education, Warsaw, Department of Endocrinology, Centre of Medical Postgraduate Education, Warsaw.

Introduction: Foetal hypothyroidism negatively impacts somatic and neurological child development and can be the cause of serious obstetric and perinatal complications. We present a rare case of a large foetal dyshormonogenetic goitre, causing foetal neck hyperexten-sion, oesophageal compression, and cardiac high-output failure.

Material And Methods: A foetal goitre complicated by cardiomegaly and polyhydramnios was diagnosed at 23 weeks of gestation (WG) on a routine ultrasonographic (US) assessment in a healthy nullipara. Read More

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June 2018
3 Reads

Association between first caesarean delivery and adverse outcomes in subsequent pregnancy: a retrospective cohort study.

BMC Pregnancy Childbirth 2018 Jun 28;18(1):273. Epub 2018 Jun 28.

Department of Reproductive Medicine, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Background: Few studies have explored the association between a previous caesarean section (CS) and adverse perinatal outcomes in a subsequent pregnancy, especially in women who underwent a non-indicated CS in their first delivery. We designed this study to compare the perinatal outcomes of a subsequent pregnancy in women who underwent spontaneous vaginal delivery (SVD) or CS in their first delivery.

Methods: This retrospective cohort study included women who underwent singleton deliveries at the International Peace Maternity and Child Health Hospital from January 2013 to December 2016. Read More

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June 2018
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Prenatal and perinatal risk factors and the clinical implications on autism spectrum disorder.

Autism 2018 Jun 1:1362361318772813. Epub 2018 Jun 1.

1 National Taiwan University Hospital, Taiwan.

Prenatal and perinatal factors may increase the risk of autism spectrum disorder. However, little is known about whether unaffected siblings of probands with autism spectrum disorder also share the phenomenon and whether the prenatal/perinatal factors are related to the clinical severity of autistic symptoms. We compared the frequency of prenatal and perinatal factors among 323 probands with autism spectrum disorder (mean age ± standard deviation, 10. Read More

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June 2018
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Clinical and diagnostic features of Bartter and Gitelman syndromes.

Clin Kidney J 2018 Jun 10;11(3):302-309. Epub 2017 Nov 10.

Department of Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.

Methods: Long-term longitudinal data were analysed for 45 children with pathogenic variants in ( = 8), ( = 8), ( = 17), ( = 2) and ( = 10) seen at a single centre between 1984 and 2014. Read More

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June 2018
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Effect of twin pregnancy chorionic properties on maternal and fetal outcomes.

Taiwan J Obstet Gynecol 2018 Jun;57(3):351-354

Department of Obstetrics and Gynecology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.

Objective: This study aimed to determine the effect of twin pregnancy chorionic properties on pregnancy complications and fetal outcomes.

Materials And Methods: A total of 559 subjects with gemellary pregnancy were included in the retrospective analysis, and clinical data, such as monitoring data during pregnancy and maternal and fetal outcomes, were recorded in detail. Based on the ultrasound results and methods of the postpartum pathologic examination of the placental membranes, the subjects were divided into the twin group with monochorionic diamnion (MCDA group, n = 198) and twin group with dichorionic diamnion (DCDA group, n = 361). Read More

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June 2018
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Fetal brain MRI in polyhydramnios: is it justified?

J Matern Fetal Neonatal Med 2018 Jul 10:1-7. Epub 2018 Jul 10.

a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Chaim Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University , Tel Aviv , Israel.

Introduction: Despite meticulous investigation of polyhydramnios cases, in many of these cases, congenital anomalies are detected only after birth. The aim of our study was to explore the contribution of fetal brain MRI to the detection of CNS anomalies in cases of polyhydramnios.

Materials And Methods: This was retrospective cohort study on fetuses referred for the investigation of polyhydramnios at a single tertiary center. Read More

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July 2018
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