3,323 results match your criteria Hydrops Fetalis


Management of fetal tumors.

Best Pract Res Clin Obstet Gynaecol 2019 Jan 14. Epub 2019 Jan 14.

Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Mount Sinai Hospital and University of Toronto, Toronto, Canada. Electronic address:

In this review article, we discuss the most common fetal tumors, their prenatal management, and outcomes. Overall, the most important outcome predictors are tumor histology, size, vascularity, and location. Very large lesions, lesions causing cardiac failure, and hydrops and lesions obstructing the fetal airway have the poorest outcome, as they may cause fetal death or complications at the time of delivery. Read More

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http://dx.doi.org/10.1016/j.bpobgyn.2019.01.006DOI Listing
January 2019

Placental chorioangioma associated with polyhydramnios and hydrops fetalis.

BMJ Case Rep 2019 Jan 29;12(1). Epub 2019 Jan 29.

Women's Health, Royal Preston Hospital, Preston, UK.

A 27-year-old multigravida woman was noted on routine growth scan at 27 weeks gestation to have a central placental hypoechoic area measuring 6.7×6.0×4. Read More

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http://dx.doi.org/10.1136/bcr-2018-227828DOI Listing
January 2019

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Eur J Med Genet 2019 Jan 25. Epub 2019 Jan 25.

Mendelics Genomic Analysis, CEP 04013-000, São Paulo, SP, Brazil; Neurogenetics, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:

The Na/K- ATPase acts as an ion pump maintaining the essential plasma membrane potential in all mammalian cell types, and is essential for many cellular functions. There are four α isoforms (α1, α2, α3 and α4) with distinct expression patterns, kinetic properties and substrate affinity. The α2-isoform is encoded by ATP1A2 and evidence supports its utmost importance in Cl homeostasis in neurons, and in the function of respiratory neurons at birth. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.014DOI Listing
January 2019

Congenital erythropoietic porphyria: Recent advances.

Mol Genet Metab 2018 Dec 27. Epub 2018 Dec 27.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America. Electronic address:

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by photosensitivity and by hematologic abnormalities in affected individuals. CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with a specific X-linked GATA1 mutation. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.12.008DOI Listing
December 2018
4 Reads

Congenital Large Cutaneous Hemangioma with Arteriovenous and Arterioarterial Malformations: A Novel Association.

Fetal Pediatr Pathol 2019 Jan 19:1-6. Epub 2019 Jan 19.

c Department of Gyneco-Obstetrics, Hospital Habib Bougatfa, Faculty of Medicine of Tunis, University of Tunis El Manar , Tunis , Tunisia.

Background: Congenital cutaneous hemangioma is a benign vascular lesion that is a leading cause of severe hemodynamic compromise in a fetus when it is of significant size and especially in association with arteriovenous malformation.

Case Report: A large cutaneous hemangioma involving the right arm of a 32-week-old male fetus was complicated by fetal hypotrophy, hydrops fetalis and neonatal death. Axillary arteriovenous fistulas and bilateral arterial carotid-subclavian anastomosis were demonstrated at autopsy. Read More

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http://dx.doi.org/10.1080/15513815.2018.1547337DOI Listing
January 2019
1 Read

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Neuromuscul Disord 2018 Dec 20. Epub 2018 Dec 20.

Department of Pediatrics, Sahlgrenska Academy, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.

We describe the long-term follow-up of a patient with severe nemaline myopathy due to a novel homozygous mutation in the Leiomodin 3 (LMOD3) gene and describe the histopathological characteristics of the disease. The patient presented at birth with hydrops fetalis, multiple joint contractures, severe generalized muscle weakness, no movement, and respiratory insufficiency. At eight years of age, she had bilateral ophthalmoplegia, visual impairment, multiple contractures, and scoliosis, and is dependent on a home mechanical ventilator and gastrostomy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183058
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http://dx.doi.org/10.1016/j.nmd.2018.12.009DOI Listing
December 2018
8 Reads

Trisomy 21 and hydrops fetalis: parvovirus B19 or transient abnormal myelopoiesis?

J Obstet Gynaecol 2019 Jan 11:1-2. Epub 2019 Jan 11.

a Fetal Medicine Centre , Birmingham Women's and Children's NHS Foundation Trust , Birmingham , UK.

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http://dx.doi.org/10.1080/01443615.2018.1530740DOI Listing
January 2019

[Ballantyne syndrome complicated by eclampsia: about a case and literature review].

Pan Afr Med J 2018 31;30:238. Epub 2018 Jul 31.

Service de Gynécologie-Obstétrique, Hôpital Militaire d'Instruction Mohamed V, Rabat, Maroc.

Ballantyne syndrome or preeclampsia (Mirror syndrome) is a rare clinical entity. Ethiopathogenesis is still poorly elucidated. Diagnosis must be suspected in patients with maternal edematous syndrome associated with fetal anasarca. Read More

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http://dx.doi.org/10.11604/pamj.2018.30.238.15296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295295PMC
January 2019
3 Reads

Twin-to-Twin Transfusion Syndrome: A Case Report.

Neonatal Netw 2018 Sep 1;37(5):292-302. Epub 2018 Sep 1.

Purpose: To present a case of twin-to-twin transfusion syndrome (TTTS), followed by discussion of the etiology, pathophysiology, prenatal diagnosis, management, complications, prognosis, and family considerations.

Methods: A literature review was conducted using MEDLINE, PubMed, CINAHL, ProQuest, and Google Scholar. The search resulted in 593 articles; 25 relevant articles were chosen. Read More

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http://connect.springerpub.com/lookup/doi/10.1891/0730-0832.
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http://dx.doi.org/10.1891/0730-0832.37.5.292DOI Listing
September 2018
6 Reads

Novel mutation in as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.

Clin Case Rep 2018 Dec 24;6(12):2358-2363. Epub 2018 Oct 24.

Division of Maternal-Fetal Medicine Department of Obstetrics, Gynecology, and Reproductive Sciences University of California San Diego La Jolla California.

Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1. WES is a useful approach for diagnosing rare single-gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ccr3.1804
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http://dx.doi.org/10.1002/ccr3.1804DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293140PMC
December 2018
7 Reads

Atypical Prenatal Ultrasound Presentation and Neuropathological Findings in a Neonate With Alpha Thalassemia Major: A Case Report.

Pediatr Dev Pathol 2018 Dec 14:1093526618817655. Epub 2018 Dec 14.

1 Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Canada.

Alpha thalassemia major is a hemoglobinopathy caused by the inactivation or deletion of all 4 α-globin alleles. We describe a case of α-thalassemia major with atypical ultrasound and neuropathological findings. The mother had her first prenatal visit at 27 4/7 gestational weeks. Read More

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http://dx.doi.org/10.1177/1093526618817655DOI Listing
December 2018
1 Read

Deletion of macro domain containing 2(MACRO D2) associated with transient hydrops fetalis.

Taiwan J Obstet Gynecol 2018 Dec;57(6):897-898

Trakya University, Faculty of Medicine, Department of Perinatology, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S10284559183024
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http://dx.doi.org/10.1016/j.tjog.2018.10.023DOI Listing
December 2018
6 Reads

Hemolytic disease of the fetus and newborn due to alloanti-M: three Chinese case reports and a review of the literature.

Transfusion 2019 Jan 6;59(1):385-395. Epub 2018 Dec 6.

Fetal Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510000, China.

Background: Alloanti-M was once regarded as not clinically significant, with a few exceptions in extremely rare cases. However, an increasing number of cases of severe hemolytic disease of the fetus and newborn (HDFN), resulting in fetal hydrops and recurrent abortion caused by alloanti-M, have been reported mainly in the Asian population.

Study Design And Methods: Three pregnant Chinese women with a history of abnormal pregnancy with hydrops fetalis were encountered. Read More

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http://doi.wiley.com/10.1111/trf.15054
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http://dx.doi.org/10.1111/trf.15054DOI Listing
January 2019
14 Reads

Inherited hemolytic anemia: a possessive beginner's guide.

Authors:
Narla Mohandas

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):377-381

New York Blood Center, New York, NY.

Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245988PMC
November 2018
2 Reads

Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia.

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):353-360

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

The α-thalassemia trait, associated with deletions removing both α-globin genes from 1 chromosome (genotype ζ αα/ζ--), is common throughout Southeast Asia. Consequently, many pregnancies in couples of Southeast Asian origin carry a 1 in 4 risk of producing a fetus inheriting no functional α-globin genes (ζ--/ζ--), leading to hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS). Expression of the embryonic α-globin genes (ζ-globin) is normally limited to the early stages of primitive erythropoiesis, and so when the ζ-globin genes are silenced, at ∼6 weeks of gestation, there should be no α-like globin chains to pair with the fetal γ-globin chains of Hb, which consequently form nonfunctional tetramers (γ) known as Hb Bart's. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6246003PMC
November 2018
4 Reads

Long-Term Outcomes After Thoracoamniotic Shunt for Pleural Effusions With Secondary Hydrops.

J Surg Res 2019 Jan 5;233:304-309. Epub 2018 Sep 5.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Keck School of Medicine, University of Southern California, Los Angeles, California. Electronic address:

Background: Congenital pleural effusion is a rare condition with an incidence of approximately one per 15,000 pregnancies. The development of secondary hydrops is a poor prognostic indicator and such cases can be managed with a thoracoamniotic shunt (TAS). Our objective is to describe postnatal outcomes in survivors after TAS placement for congenital pleural effusions. Read More

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http://dx.doi.org/10.1016/j.jss.2018.08.022DOI Listing
January 2019
1 Read

Neonatal atrial flutter: Three cases and review of the literature.

Turk J Pediatr 2018 ;60(3):306-309

Division of Neonatology, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

Yılmaz-Semerci S, Bornaun H, Kurnaz D, Cebeci B, Babayiğit A, Büyükkale G, Çetinkaya M. Neonatal atrial flutter: Three cases and review of the literature. Turk J Pediatr 2018; 60: 306-309. Read More

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http://www.turkishjournalpediatrics.org/doi.php?doi=10.24953
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http://dx.doi.org/10.24953/turkjped.2018.03.011DOI Listing
January 2018
4 Reads

A Rare Hb H Hydrops Fetalis Syndrome Caused by the - - Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient.

Hemoglobin 2018 Jul 29;42(4):278-280. Epub 2018 Nov 29.

b Department of Gynecology and Obstetrics, Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Nanfang Hospital , Southern Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Despite the milder clinical severity of Hb H patients compared with those of Hb Bart's hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the - - (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C>G, p. Read More

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https://www.tandfonline.com/doi/full/10.1080/03630269.2018.1
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http://dx.doi.org/10.1080/03630269.2018.1536665DOI Listing
July 2018
6 Reads

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):128. Epub 2018 Nov 16.

Clinica Pediatrica, Fondazione MBBM, Università Milano-Bicocca, Monza, Italy.

A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typical of MPS. Read More

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-018-0566-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238262PMC
November 2018
9 Reads
1.240 Impact Factor

Nonimmune hydrops fetalis: identifying the underlying genetic etiology.

Genet Med 2018 Nov 9. Epub 2018 Nov 9.

Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, CA, USA.

Purpose: Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes.

Methods: Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal-Maternal Consortium sites. Read More

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http://dx.doi.org/10.1038/s41436-018-0352-6DOI Listing
November 2018
2 Reads

Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis.

J Clin Ultrasound 2019 Jan 30;47(1):47-50. Epub 2018 Oct 30.

Department of Embryo-Fetopathology, Maternity and Neonatology Center, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Prenatal diagnosis of neonatal hemochromatosis (NH) is usually raised in front of fetal hepatomegaly and heterogeneous liver architecture. We describe a novel sonographic feature that may be associated with NH. Ultrasound demonstrated reticulonodular liver and distended gallbladder with multiple gallstones in a hydropic fetus. Read More

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http://dx.doi.org/10.1002/jcu.22653DOI Listing
January 2019
3 Reads

[Analysis for the pregnancy outcome of cystic hygroma fetuses and correlation with increased nuchal translucency in first trimester].

Authors:
Q Wang X Wang

Zhonghua Fu Chan Ke Za Zhi 2018 Oct;53(10):665-670

Department of Perinatal Medicine, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

To analyze prognosis-related risk factors of first trimester cystic hygroma (CH) fetuses in which nuchal translucency (NT) was found to be thickened. Tolly 216 singleton pregnancies in which fetal NT≥3.0 mm at the 11~13 weeks scan accepted invasive prenatal diagnosis in Beijing Gynecology and Obstetrics Hospital, Capital Medical University, from January 2014 to December 2015 were collected. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-567x.2018.10.003DOI Listing
October 2018
2 Reads

Prenatal diagnosis and management of fetal discordant alpha-thalassaemia in dichorionic diamniotic (DCDA) twins.

BMJ Case Rep 2018 Oct 25;2018. Epub 2018 Oct 25.

Department of Obstetrics and Gynecology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

A 29-year-old nulliparous woman with a dichorionic diamniotic (DCDA) twin pregnancy was referred to our hospital at 16 weeks' gestation for prenatal diagnosis. She was diagnosed of Haemoglobin H Constant Spring (Hb H CS; --/αα) and her husband of alpha thalassemia-1 trait (--/αα). Detailed ultrasound showed that left twin had fetal anaemia and early signs of hydrops while the right one was normal. Read More

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http://dx.doi.org/10.1136/bcr-2018-224362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202988PMC
October 2018
3 Reads

First trimester cystic hygroma colli: Retrospective analysis in a tertiary center.

Eur J Obstet Gynecol Reprod Biol 2018 Dec 9;231:60-64. Epub 2018 Oct 9.

Department of obstetrics and gynecology, University Hospitals Leuven, Leuven, Belgium. Electronic address:

Objective: This retrospective study aims to evaluate the incidence, presence of chromosomal anomalies and outcome of fetuses diagnosed with cystic hygroma colli in the first trimester in a single tertiary center.

Study Design: A retrospective study was performed over a ten-years period from 2007 to 2017 of all fetuses with a first-trimester diagnosis of cystic hygroma. Maternal and fetal parameters were assessed with descriptive statistics. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03012115183102
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http://dx.doi.org/10.1016/j.ejogrb.2018.10.019DOI Listing
December 2018
3 Reads

The indications for early prenatal diagnosis of trisomy 18: a 7-year experience at mainland China.

J Matern Fetal Neonatal Med 2018 Nov 28:1-5. Epub 2018 Nov 28.

a Prenatal Diagnostic Center , Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University , Guangzhou , China.

Objective: To report the experience with first-trimester prenatal detection of pregnancies complicated by trisomy 18.

Study Design: Proven cases of trisomy 18 identified between 11 and 14 weeks of gestation were retrospectively reviewed. Information on maternal demographics, prenatal sonographic findings, indications for prenatal diagnosis and chromosomal analysis results was obtained by reviewing medical records. Read More

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http://dx.doi.org/10.1080/14767058.2018.1536741DOI Listing
November 2018
3 Reads

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.

Genet Med 2018 Oct 8. Epub 2018 Oct 8.

West Midlands Fetal Medicine Centre, Birmingham Women's & Children's NHS Foundation Trust, Birmingham, UK.

Purpose: To determine the diagnostic yield of combined exome sequencing (ES) and autopsy in fetuses/neonates with prenatally identified structural anomalies resulting in termination of pregnancy, intrauterine, neonatal, or early infant death.

Methods: ES was undertaken in 27 proband/parent trios following full autopsy. Candidate pathogenic variants were classified by a multidisciplinary clinical review panel using American College of Medical Genetics and Genomics (ACMG) guidelines. Read More

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http://dx.doi.org/10.1038/s41436-018-0298-8DOI Listing
October 2018
5 Reads

[Perinatal outcomes of thoraco-amniotic shunting for severe primary fetal hydrothorax].

Zhonghua Fu Chan Ke Za Zhi 2018 Sep;53(9):590-594

Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University, Shanghai 201204, China.

To evaluate the safety and perinatal outcomes of thoracoamniotic shunting in the treatment of fetuses with severe primary hydrothorax. 22 cases of suspected severe primary fetal hydrothorax which underwent thoraco-amniotic shunting in Shanghai First Maternity and Infant Hospital, Fetal Medicine Unit and Prenatal Diagnosis Center from January 2012 to December 2017 were analyzed retrospectively. Hydrothorax associated with structural or chromosomal abnormalities, infections and immune fetal hydrops were excluded. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-567x.2018.09.002DOI Listing
September 2018
17 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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http://link.springer.com/10.1007/s10396-018-0905-y
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http://dx.doi.org/10.1007/s10396-018-0905-yDOI Listing
October 2018
3 Reads

OK-432 Treatment of Early Fetal Chylothorax: Pregnancy Outcome and Long-Term Follow-Up of 14 Cases.

Fetal Diagn Ther 2018 Oct 3:1-7. Epub 2018 Oct 3.

Department of Obstetrics and Gynecology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Background: The treatment options for fetal chylothorax include thoracocentesis, thoracoamniotic shunting, and pleurodesis using OK-432. Knowledge on the long-term outcomes after treatment with OK-432 is limited.

Objective: The aim of this study was to assess the long-term outcomes of children treated in utero with OK-432. Read More

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https://www.karger.com/Article/FullText/489775
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http://dx.doi.org/10.1159/000489775DOI Listing
October 2018
3 Reads

Fetal intervention for congenital chylothorax is associated with improved outcomes in early life.

J Surg Res 2018 Nov 29;231:361-365. Epub 2018 Jun 29.

Division of Pediatric Surgery, Department of Surgery, University of Michigan, Ann Arbor, Michigan; Fetal Diagnosis and Treatment Center, University of Michigan, Ann Arbor, Michigan.

Background: Congenital chylothorax (CC) can have devastating consequences for neonates. We sought to determine the outcomes of cases treated at our institution and evaluate the role of fetal intervention.

Materials And Methods: With Institutional Review Board approval, patients treated at our institution 09/2006-04/2016 with CC were reviewed. Read More

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http://dx.doi.org/10.1016/j.jss.2018.05.082DOI Listing
November 2018
2 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 Dec 23;176(12):2829-2834. 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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http://dx.doi.org/10.1002/ajmg.a.40533DOI Listing
December 2018
15 Reads

Development of Visual Detection of α-Thalassemia-1 (the - - Deletion) Using pH-Sensitive Loop-Mediated Isothermal Amplification.

Hemoglobin 2018 May 7;42(3):171-177. Epub 2018 Sep 7.

a Department of Medical Technology, Faculty of Allied Health Science s, Thammasat University , Klong Luang , Pathum Thani Province , Thailand.

Detection of α-thalassemia-1 (α-thal-1) carriers provides valuable insight for genetic consulting in prevention and control programs for couples who are at risk of conceiving a fetus with severe thalassemia, both Hb Bart's hydrops fetalis and hemolytic Hb H disease. The traditional method is complicated, time-consuming and requires high instrument cost and expertise. Loop-mediated isothermal amplification (LAMP) based on pH-sensitive dye technology, shows all the characteristics required of a real-time analysis with simple operation for potential use in the clinical diagnosis of high incidence α-thal-1 [Southeast Asian (SEA) or - - deletion]. Read More

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http://dx.doi.org/10.1080/03630269.2018.1488723DOI Listing
May 2018
3 Reads

Congenital Zika virus syndrome…what else? Two case reports of severe combined fetal pathologies.

BMC Pregnancy Childbirth 2018 Sep 3;18(1):356. Epub 2018 Sep 3.

Multidisciplinary Center of Prenatal Diagnosis of Martinique, Unit of Obstetrics and Gynecology, Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort de France, France.

Background: Zika virus (ZIKV) has recently emerged as a teratogenic infectious agent associated with severe fetal cerebral anomalies. Other microorganisms (TORCH agents) as well as genetic disorders and toxic agents may lead to similar anomalies. In case of fetal anomalies, the exact etiology might be difficult to establish, especially in ZIKV endemic countries. Read More

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http://dx.doi.org/10.1186/s12884-018-1998-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122623PMC
September 2018
1 Read

Peripheral Blood Smear of Bart's Hydrops Fetalis.

Indian J Hematol Blood Transfus 2018 Jul 8;34(3):560-561. Epub 2017 Dec 8.

2Hematology Unit, Medical Specialty Center, Bangkok Hospital Hatyai, Hatyai, Songkhla, 90110 Thailand.

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http://dx.doi.org/10.1007/s12288-017-0908-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081337PMC
July 2018
0.230 Impact Factor

Hydrops Fetalis and THE Parvovirus B-19.

Curr Pediatr Rev 2018 ;14(4):239-252

Department of Obstetrics and Gynecology, Democritus University of Medicine in Thrace, Konotin, Greece.

Definition: Hydrops Fetalis (HF) or fetal hydrops is identified as an abnormal interstitial collection of fluid in at least 2 or more compartments of the fetal torso (peritoneal cavity, pleura, and pericardium). An alternative definition discusses about liquor accumulation in two fetal anatomical areas or an effusion in one site and anasarca.

Background: Parvovirus B-19 is a common childhood illness; the virus can cause fetal anemia, non-immune fetal hydrops, and spontaneous abortion and might lead to fetal demise. Read More

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http://dx.doi.org/10.2174/1573396314666180820154340DOI Listing
January 2019
16 Reads

h mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.

J Exp Med 2018 Sep 16;215(9):2339-2353. Epub 2018 Aug 16.

Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC

We report the first case of nonimmune hydrops fetalis (NIHF) associated with a recessive, in-frame deletion of V205 in the G protein-coupled receptor, Calcitonin Receptor-Like Receptor (h). Homozygosity results in fetal demise from hydrops fetalis, while heterozygosity in females is associated with spontaneous miscarriage and subfertility. Using molecular dynamic modeling and in vitro biochemical assays, we show that the hCLR(V205del) mutant results in misfolding of the first extracellular loop, reducing association with its requisite receptor chaperone, receptor activity modifying protein (RAMP), translocation to the plasma membrane and signaling. Read More

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http://dx.doi.org/10.1084/jem.20180528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122977PMC
September 2018
31 Reads
12.520 Impact Factor

No. 363-Investigation and Management of Non-immune Fetal Hydrops.

J Obstet Gynaecol Can 2018 Aug;40(8):1077-1090

Montréal, QC.

Objective: To describe the current investigation and management of non-immune fetal hydrops with a focus on treatable or recurring etiologies.

Outcomes: To provide better counselling and management in cases of prenatally diagnosed non-immune hydrops.

Evidence: Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in 2017 using key words (non-immune hydrops fetalis, fetal hydrops, fetal therapy, fetal metabolism). Read More

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http://dx.doi.org/10.1016/j.jogc.2017.12.011DOI Listing

Red Blood Cell Alloimmunization in the Pregnant Patient.

Transfus Med Rev 2018 10 19;32(4):213-219. Epub 2018 Jul 19.

Children's National Health System, Washington, D.C., USA; The George Washington University, Departments of Pediatrics & Pathology, Washington, DC, USA.

Alloimmunization to red blood cell (RBC) antigens represents a challenge for physicians caring for women of child bearing potential. Exposure to non-self RBC antigens may occur during transfusion or pregnancy leading to the development of antibodies. If a subsequent fetus bears that antigen, maternal antibodies may attack the fetal red blood cells causing red cell destruction and clinically significant hemolytic disease of the fetus and newborn (HDFN). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08877963183001
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http://dx.doi.org/10.1016/j.tmrv.2018.07.002DOI Listing
October 2018
26 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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http://dx.doi.org/10.14423/SMJ.0000000000000840DOI Listing
August 2018
17 Reads

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.

Am J Med Genet A 2018 Sep 28;176(9):1996-2003. Epub 2018 Jul 28.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.

Non-immune hydrops fetalis (NIHF) is the abnormal accumulation of serous fluid in more than two fetal or neonatal interstitial spaces due to nonimmune causes. It is a serious condition that requires extensive medical care as it indicates severe fetal compromise. We clinically evaluated four patients from two branches of a highly consanguineous family from the UAE with NIHF using whole exome sequencing and in silico analysis. Read More

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http://dx.doi.org/10.1002/ajmg.a.40424DOI Listing
September 2018
4 Reads

Fetal Brain Injury Associated with Parvovirus B19 Congenital Infection Requiring Intrauterine Transfusion.

Fetal Diagn Ther 2018 Jul 20:1-11. Epub 2018 Jul 20.

Department of Fetal Medicine, Hôpital Armand-Trousseau, Paris, France.

Background: Infection with parvovirus B19 (B19V) during pregnancy may cause severe fetal anemia, hydrops, and fe tal death. Furthermore, neurodevelopmental impairment among survivors may occur despite appropriate prenatal management, including intrauterine transfusion (IUT).

Objectives: Our primary objective was to describe cerebral lesions on MRI in fetuses with severe anemia requiring IUT for B19V infection. Read More

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http://dx.doi.org/10.1159/000489881DOI Listing
July 2018
4 Reads
2.295 Impact Factor

Molecular characterization of Hb H disease in southern Thailand.

Int J Hematol 2018 Oct 13;108(4):384-389. Epub 2018 Jul 13.

Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, 90110, Thailand.

Genotypes of 260 individuals with hemoglobin H (Hb H) disease originating from various provinces in southern Thailand were characterized by multiplex PCR (M-PCR) and reverse dot blot hybridization (RDB). M-PCR was used to amplify target fragments and then hybridized with allele-specific oligonucleotide (ASO) probes which were bound on a nylon membrane. A total of eight α-thalassemia (α-thal) mutations, which produced eight Hb H disease genotypes (α-thal/α-thal), were detected. Read More

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http://link.springer.com/10.1007/s12185-018-2494-3
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http://dx.doi.org/10.1007/s12185-018-2494-3DOI Listing
October 2018
6 Reads

Detection of parvovirus B19 in selected high-risk patient groups & their phylogenetic & selection analysis.

Indian J Med Res 2018 04;147(4):391-399

Sri Sakthi Amma Institute of Biomedical Research, Sri Narayani Hospital & Research Centre, Vellore, India.

Background & Objectives: Human parvovirus B19V (B19V) is known to be associated with erythema infectiosum commonly in children, aplastic crisis, especially in persons with underlying haemolytic disorders, hydrops fetalis in pregnancies and arthritis. This cross-sectional study was aimed to determine the presence of B19V infection in childhood febrile illnesses, association of B19V with arthropathies and in adult patients with end-stage renal disease (ESRD) on dialysis. The genetic diversity among the sequences was also analysed. Read More

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http://dx.doi.org/10.4103/ijmr.IJMR_241_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057248PMC
April 2018
3 Reads
1.660 Impact Factor

Coexistence of Kasabach-Merritt Syndrome and placental chorioangioma in a premature infant.

J Neonatal Perinatal Med 2018 ;11(2):209-213

Kasabach-Merritt syndrome is a rare life-threatening clinical presentation in neonatal period. it is characterized by giant hemangioma and serious thrombocytopenia. The diagnostic criteria include: 1) hemangiomas on skin, 2) thrombocytopenia or coagulopathy, 3) hemangioma on internal organs diagnosed by ultrasonography, computed tomography or magnetic resonance imaging, and 4) excluding reasons, such as idiopathic thrombocytopenic purpura or hypersplenism. Read More

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http://dx.doi.org/10.3233/NPM-181754DOI Listing
December 2018
18 Reads

N° 363 - Évaluation et prise en charge de l'anasarque fœtoplacentaire non immune.

J Obstet Gynaecol Can 2018 Aug 3;40(8):1091-1107. Epub 2018 Jul 3.

Montréal (Qc).

Objectif: Décrire les méthodes actuelles d'évaluation et de prise en charge de l'anasarque fœtoplacentaire non immune en mettant l'accent sur les étiologies traitables ou récurrentes. RéSULTATS: Offrir de meilleurs services de conseil et de prise en charge en cas d'anasarque fœtoplacentaire non immune diagnostiquée en période prénatale. DONNéES: La littérature publiée a été récupérée au moyen de recherches menées dans PubMed, MEDLINE, CINAHL, et la Bibliothèque Cochrane en 2017 à l'aide de mots-clés (« non-immune hydrops fetalis », « fetal hydrops », « fetal therapy », « fetal metabolism »). Read More

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http://dx.doi.org/10.1016/j.jogc.2018.06.005DOI Listing
August 2018
7 Reads

Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.

BMC Pediatr 2018 07 5;18(1):217. Epub 2018 Jul 5.

Aix Marseille Univ, CNRS, EFS, ADES, Marseille, France.

Background: Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene. Here we present a case report of GACI in a male infant with a new familial mutation of the ENPP1 gene and the clinical outcome after biphosphonates therapy.

Case Presentation: The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. Read More

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http://dx.doi.org/10.1186/s12887-018-1198-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034340PMC
July 2018
1 Read

Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.

Eur J Haematol 2018 Oct 31;101(4):566-569. Epub 2018 Aug 31.

Department of Haematology Biology, Saint Eloi Hospital, Montpellier University Hospital, Montpellier, France.

Severe iron overload is frequent in dehydrated hereditary stomatocytosis (DHSt) despite well-compensated hemolysis and no or little transfusion requirement. We investigated 4 patients with proven DHSt, in whom the degree of hemolysis was closely related to iron status. Genetic modifiers increasing iron stores (HFE:pCys282Tyr, HAMP:c-153C>T mutations) were accompanied with high liver iron concentrations and increased hemolysis, whereas therapeutic phlebotomies alleviated the hemolytic phenotype. Read More

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http://dx.doi.org/10.1111/ejh.13135DOI Listing
October 2018
4 Reads

Low-dose cytarabine to prevent myeloid leukemia in children with Down syndrome: TMD Prevention 2007 study.

Blood Adv 2018 Jul;2(13):1532-1540

Department of Pediatric Hematology and Oncology, Martin Luther University Halle-Wittenberg, Halle, Germany.

Approximately 5% to 10% of children with Down syndrome (DS) are diagnosed with transient myeloproliferative disorder (TMD). Approximately 20% of these patients die within 6 months (early death), and another 20% to 30% progress to myeloid leukemia (ML-DS) within their first 4 years of life. The aim of the multicenter, nonrandomized, historically controlled TMD Prevention 2007 trial was to evaluate the impact of low-dose cytarabine treatment on survival and prevention of ML-DS in patients with TMD. Read More

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http://dx.doi.org/10.1182/bloodadvances.2018018945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039662PMC
July 2018
7 Reads