3,346 results match your criteria Hydrops Fetalis


Congenital Lung Malformations.

Pediatr Ann 2019 Apr;48(4):e169-e174

Congenital lung malformations (CLM) comprise a spectrum of anatomical anomalies of the lungs and respiratory tree. The prenatal growth pattern of CLMs is unpredictable with larger lesions causing life-threatening complications, such as hydrops fetalis, and smaller lesions remaining asymptomatic and potentially regressing. The most common CLMs are congenital pulmonary adenomatoid malformations, bronchopulmonary sequestrations, congenital lobar emphysema, and bronchogenic cysts. Read More

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http://dx.doi.org/10.3928/19382359-20190326-02DOI Listing
April 2019
3 Reads

Chromosomal abnormalities detected by karyotyping and chromosomal microarray analysis in twins with structural anomalies.

Ultrasound Obstet Gynecol 2019 Apr 11. Epub 2019 Apr 11.

Fetal medicine center, Department of Obstetrics and Gynecology, The First affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

Objective: To evaluate the incidence and types of chromosomal abnormalities in twins with structural anomalies and compare the characteristics among twins with different chorionicities and amnionicities. The added value of chromosomal microarray analysis (CMA) over conventional karyotyping in these twins was also estimated.

Method: A single-center, retrospective analysis was performed over an eleven-year period on 534 twin pregnancies in which one or both fetuses had congenital structural anomalies. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/uog.20287
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http://dx.doi.org/10.1002/uog.20287DOI Listing
April 2019
3 Reads

Case Report of Anemia Following Fetal-Maternal Hemorrhage.

Authors:
Kristi L Coe

Adv Neonatal Care 2019 Apr 3. Epub 2019 Apr 3.

Wake Forest Baptist Health, Pediatric Critical Care Transport, Winston-Salem, North Carolina; Duke University School of Nursing, Durham, North Carolina; Cone Health, NICU, Greensboro, North Carolina; and University of North Carolina at Greensboro, Nursing PhD program, Greensboro, NC.

Background: Any maternal history of blood loss, ABO or Rh incompatibility, and hydrops fetalis often leads to suspicion of neonatal anemia postnatally. When maternal history consists only of decreased fetal movement, recognition of neonatal anemia can be problematic.

Clinical Findings: This case was a transported late preterm neonate who presented initially with persistent hypoxia unresponsive to usual respiratory support. Read More

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http://dx.doi.org/10.1097/ANC.0000000000000618DOI Listing
April 2019
1 Read

Hydrops Fetalis and Persistent Pulmonary Hypertension in a Neonate with Anti-E Alloimmunization.

Case Rep Obstet Gynecol 2019 4;2019:3736870. Epub 2019 Mar 4.

Department of Neonatal-Perinatal, Children's Hospital of Michigan, Neonatal-Perinatal Medicine, Detroit, MI, USA.

Anti-E alloimmunization is the third most common cause of neonatal hemolytic disease, typically causing mild to moderate hemolytic anemia. We report an unusual case of severe hydrops fetalis and persistent pulmonary hypertension (PPHN) in a neonate with anti-E alloimmunization. Our case emphasizes the importance of close surveillance for development of severe fetal hemolytic anemia and possible need for antenatal intervention. Read More

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http://dx.doi.org/10.1155/2019/3736870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425396PMC

Noonan syndrome from a fetopathologist perspective.

Cesk Patol 2019 ;55(1):48-52

We present our experience with four cases of fetal autopsies with abnormal prenatal ultrasound findings and suspicion of Noonan syndrome. These were fetuses from the 17th to the 24th age of gestation (GA). In all cases, prenatal ultrasound examination recorded increased nuchal translucency (NT) and presence of lymphatic neck sacs. Read More

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January 2019
2 Reads

[Clinical features and prognosis of neonates with nonimmune hydrops fetalis].

Zhongguo Dang Dai Er Ke Za Zhi 2019 Mar;21(3):253-258

Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.

Objective: To study the clinical features, etiology and prognosis of neonates with nonimmune hydrops fetalis (NIHF).

Methods: A retrospective analysis was performed for the clinical data and outcomes of 23 neonates with NIHF.

Results: Of the 23 neonates with NIHF, 18 (78%) were preterm infants and 5 (22%) were full-term infants; 12 (52%) had birth asphyxia (including 5 cases of severe asphyxia). Read More

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March 2019
1 Read

Non-immune hydrops fetalis neonate born to a mother with yellow nail syndrome.

Pediatr Int 2019 Mar 18;61(3):313-315. Epub 2019 Mar 18.

Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan.

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http://dx.doi.org/10.1111/ped.13771DOI Listing

Fetal arrhythmias: diagnosis and treatment.

Authors:
Shi-Min Yuan

J Matern Fetal Neonatal Med 2019 Mar 18:1-8. Epub 2019 Mar 18.

a Department of Cardiothoracic Surgery , The First Hospital of Putian, Teaching Hospital, Fujian Medical University , Putian , Fujian Province , China.

Fetal arrhythmias are common, and they may resolve spontaneously in majority of the cases. Sustained fetal arrhythmias associated with major structural heart disorders, hydrops fetalis, and fetal heart failure warrant intrauterine pharmaceutical conversion of heart rhythm or early pacemaker implant in order to avoid fetal demise. Fetal atrial flutter (AF) and supraventricular tachycardia (SVT) resemble in terms of the effects of intrauterine therapies. Read More

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http://dx.doi.org/10.1080/14767058.2018.1555804DOI Listing
March 2019
2 Reads

Dietary fatty acids fine-tune Piezo1 mechanical response.

Nat Commun 2019 03 13;10(1):1200. Epub 2019 Mar 13.

Department of Physiology, College of Medicine, University of Tennessee Health Science Center, 71S. Manassas St., Memphis, TN, 38163, USA.

Mechanosensitive ion channels rely on membrane composition to transduce physical stimuli into electrical signals. The Piezo1 channel mediates mechanoelectrical transduction and regulates crucial physiological processes, including vascular architecture and remodeling, cell migration, and erythrocyte volume. The identity of the membrane components that modulate Piezo1 function remain largely unknown. Read More

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http://dx.doi.org/10.1038/s41467-019-09055-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416271PMC
March 2019
2 Reads

Prenatal Diagnosis, Management, and Outcome of Fetal Subdural Haematoma: A Case Report and Systematic Review.

Fetal Diagn Ther 2019 Mar 12:1-11. Epub 2019 Mar 12.

The Fetal Medicine Centre, Birmingham Women's and Children's Foundation Trust, Birmingham, United Kingdom.

Background: Fetal subdural haematoma (SDH) is associated with poor prognosis.

Objective: The conflicting evidence from the literature presents a challenge in prenatal counselling. We present a case study and systematic review of the literature for the management and outcome of fetal SDH. Read More

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http://dx.doi.org/10.1159/000496202DOI Listing
March 2019
9 Reads

The Investigation of Rate of Birth Asphyxia and its Relationship with Delivery Mode at Shahid Beheshti Hospital of Isfahan during 2013, 2014, and 2015.

Int J Prev Med 2019 12;10:23. Epub 2019 Feb 12.

Department of Pediatrics, School of Medicine and Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Background: Birth asphyxia is considered as one of the biggest challenges faced by perinatal care experts. According to the WHO, in 2005, one-fourth of infant mortality cases occurred due to birth asphyxia.

Methods: This study is a retrospective study done on the newborn population with gestational ages of 36 weeks or higher during the years 2013, 2014, and 2015 to find the relationship between the number of birth asphyxia cases and the years. Read More

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http://dx.doi.org/10.4103/ijpvm.IJPVM_383_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390421PMC
February 2019

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the gene: further delineation of the phenotypic spectrum.

Cold Spring Harb Mol Case Stud 2019 Feb 28. Epub 2019 Feb 28.

Yale University School of Medicine;

Variants in the mitochondrial alanyl-tRNA synthetase 2 gene (OMIM 612035) are associated with infantile mitochondrial cardiomyopathy or later-onset leukoencephalopathy with premature ovarian insufficiency. Here, we report two newborn siblings who died soon after birth with primary pulmonary hypoplasia without evidence of cardiomyopathy. Whole exome sequencing detected the same compound heterozygous variants in both siblings (c. Read More

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http://dx.doi.org/10.1101/mcs.a003699DOI Listing
February 2019
3 Reads

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of Gene.

Front Pediatr 2019 5;7:20. Epub 2019 Feb 5.

Immunology Laboratory, First Department of Pediatrics, Ippokration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, x-linked, recessive disorder characterized by dysfunction of the T regulatory (Treg) lymphocytes leading to autoimmune diseases. Herein we report a male patient with IPEX syndrome who presented with severe diarrhea, eczema, and malabsorption leading to failure to thrive and necessitating total parenteral nutrition, as well as with liver dysfunction. Laboratory investigation showed elevated liver enzymes that declined following treatment with glucocorticosteroids and immunosuppressive drugs, marked eosinophilia, increased total IgE, and decreased Treg cells. Read More

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http://dx.doi.org/10.3389/fped.2019.00020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370736PMC
February 2019
8 Reads

Structure of Parvovirus B19 Decorated by Fabs from a Human Antibody.

J Virol 2019 May 17;93(9). Epub 2019 Apr 17.

Department of Biological Sciences, Purdue University, West Lafayette, Indiana, USA

Parvovirus B19, one of the most common human pathogens, is a small DNA virus that belongs to the As a result of previous infections, antibodies to B19 are present in most adults. B19 has a strong tropism to erythroid progenitor cells and is able to cause a series of medical conditions, including fifth disease, arthritis, myocarditis, hydrops fetalis, and aplastic crisis. No approved vaccine is currently available for B19, and there is a lack of structural characterization of any B19 epitopes. Read More

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http://dx.doi.org/10.1128/JVI.01732-18DOI Listing
May 2019
2 Reads

Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis.

Pediatr Hematol Oncol 2018 Oct - Nov;35(7-8):447-450. Epub 2019 Feb 20.

c Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , China.

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http://dx.doi.org/10.1080/08880018.2019.1569187DOI Listing
February 2019

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
6 Reads

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
13 Reads

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

Fetal Pediatr Pathol 2019 Feb 19;38(1):85-90. 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
February 2019
3 Reads

Thrombotic microangiopathy during the fetal period.

Pediatr Int 2018 Jul;60(7):675-676

Department of Pediatrics, Kakogawa Central City Hospital, Kakogawa City, Japan.

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http://dx.doi.org/10.1111/ped.13596DOI Listing
July 2018
2 Reads

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

Neuromuscul Disord 2019 Feb 20;29(2):108-113. 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
February 2019
15 Reads

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

J Obstet Gynaecol 2019 May 11;39(4):556-557. 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
May 2019
1 Read

[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
5 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
7 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
13 Reads

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

Pediatr Dev Pathol 2019 Mar-Apr;22(2):166-170. Epub 2018 Dec 14.

5 Department of Obstetrics and Gynecology, 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
April 2019
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
14 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
25 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
4 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
7 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
February 2019
6 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
9 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
11 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
6 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
6 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
4 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
5 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
14 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
19 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) 2019 Apr 4;46(2):267-272. 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
April 2019
5 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
4 Reads

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

J Surg Res 2018 11 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
3 Reads

From childhood onset lymphedema to fatal fetal hydrops: Possible modifying genes for a FOXC2 mutation.

Lymphology 2018 ;51(2):85-88

Department of Surgery, University of Arizona College of Medicine, Tucson, USA.

We performed whole exome sequencing in a family with FOXC2 mutation where the phenotype in one generation was strikingly more severe. Although there were 3 mutations shared by 2 fatal fetal hydrops cases and not the mildly affected mother, none of them were likely to be the cause of the marked phenotypic change. Read More

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March 2019
15 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
27 Reads