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Arch Gynecol Obstet 2019 Feb 8. Epub 2019 Feb 8.

Department of Nursing, Chang Gung University of Science and Technology, No. 261, Wenhua 1st Rd., Guishan Dist., Taoyuan City, 33303, Taiwan, ROC.

Purpose: To examine temporal trends in stillbirth and its associated risk factors in Taiwan.

Methods: This was a population-based cohort study. Data were extracted from the Birth Certificate Application database. Read More

Prenat Diagn 2019 Feb 1. Epub 2019 Feb 1.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.

Background: The Ex-Utero Intrapartum Treatment (EXIT) is utilized to transition fetuses with prenatally diagnosed airway obstruction to postnatal life. We describe the unique clinical course, diagnosis, treatment and outcomes of patients with cervical lymphatic malformation (CLM) managed with EXIT.

Methods: Review of fetuses with diagnosed CLM delivered by EXIT (2001-2018) in a tertiary referral fetal center. Read More

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

Ultrasound Obstet Gynecol 2019 Jan 28. Epub 2019 Jan 28.

The Texas Fetal Center, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Health Medical School, Houston, TX.

Objective: To determine the relationship between intra-amniotic pressure (AP) and cervical length (CL) in patients with twin-twin transfusion syndrome undergoing fetoscopic laser photocoagulation (FLP).

Methods: Prospective cohort study of patients undergoing FLP for TTTS (N= 283; GA 20.7 ± 3 weeks; Stage I: 33, II: 88, III: 150, IV: 12) was performed. Read More

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

Case Rep Endocrinol 2018 19;2018:9564737. Epub 2018 Dec 19.

Pediatric Endocrinology Unit, Department of Pediatrics, Centro Materno Infantil do Norte-Centro Hospitalar Universitário do Porto, Oporto, Portugal.

Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Read More

Acta Obstet Gynecol Scand 2019 Jan 19. Epub 2019 Jan 19.

Department of Specialist Neonatal and Pediatric Surgery, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

Introduction: The primary aim of this systematic review was to quantify the diagnostic performance of ultrasound, MRI and amniotic fluid analysis in detecting esophageal atresia (EA) prenatally. The secondary aim was to explore the accuracy of individual imaging signs in identifying this anomaly.

Material And Methods: Medline, Embase and Cochrane databases were searched. Read More

Taiwan J Obstet Gynecol 2019 Jan;58(1):51-52

Department of Obstetrics and Gynecology, University of Fukui, Fukui, Japan.

J Matern Fetal Neonatal Med 2019 Jan 24:1-6. Epub 2019 Jan 24.

b Pediatric Developmental Disorders Research Center , Hamadan University of Medical Sciences , Hamadan , Iran.

Background: The results of studies about the effect of polyhydramnios on the risk of placental abruption are a controversy. This study was conducted to determine the association between polyhydramnios and the risk of placental abruption.

Methods: PubMed, Scopus, and Web of Science were searched in September 2017 along with references from meta-analyses and reviews. Read More

AJP Rep 2018 Oct 3;8(4):e359-e361. Epub 2018 Dec 3.

Department of Gynaecology and Obstetrics, Third Faculty of Medicine, Charles University, Prague, Czech Republic.

 We present a case of severe bronchopulmonary sequestration (BPS) and fetal hydrops in one of the monochorionic twin successfully treated with multiple courses of betamethasone.  A 21-year-old gravida 2 para 1 was referred to our hospital for suspected twin-to-twin transfusion syndrome (TTTS) at 28 weeks of gestational age. However, prenatal ultrasound of the larger twin revealed a chest lesion that was associated with significant ascites, massive hydrothorax, scant hepatomegaly, subcutaneous edema, and severe polyhydramnios. Read More

Neonatal Netw 2018 Jul 1;37(4):233-237. Epub 2018 Jul 1.

Meconium peritonitis is a sterile chemical peritonitis preceded by bowel perforation, resulting in meconium leakage and subsequent inflammatory cascade within the peritoneal cavity. The presentation can range from simple failure of the neonate to pass meconium to complications such as persistent pulmonary hypertension, lung hypoplasia, and systemic inflammatory syndrome. The purpose of this article is to review a case of meconium peritonitis while considering its etiology, diagnosis, management, and multidisciplinary team care. Read More

J Matern Fetal Neonatal Med 2018 Dec 17:1-9. Epub 2018 Dec 17.

a Department of Obstetrics and Gynaecology , University of Chieti , Chieti , Italy.

Objective: To identify the effects of different dietary inositol stereoisomers on insulin resistance and the development of gestational diabetes mellitus (GDM) in women at high risk for this disorder.

Design: A preliminary, prospective, randomized, placebo controlled clinical trial.

Participants: Nonobese singleton pregnant women with an elevated fasting glucose in the first or early second trimester were studied throughout pregnancy. Read More

Medicine (Baltimore) 2018 Dec;97(50):e13614

Department of Nephrology.

Rationale: It is reported that successful pregnancies in dialyzed uremic women are rare. Over the past years, despite advances in clinical management and technology in dialysis for pregnancy in patients receiving maintenance hemodialysis, uremia remains a high risk factor for adverse outcomes in mother and fetus.

Patient Concerns: In this article, we present a case of pregnancy in a 34-year-old uremic woman on dialysis. Read More

Pediatr Res 2018 Dec 13. Epub 2018 Dec 13.

Golisano Children's Hospital, University of Rochester School of Medicine, Rochester, NY, USA.

Background: Most studies of neonatal acute kidney injury (AKI) have focused on the first week following birth. Here, we determined the outcomes and risk factors for late AKI (>7d).

Methods: The international AWAKEN study examined AKI in neonates admitted to an intensive care unit. Read More

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

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

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

Eur J Paediatr Neurol 2018 Nov 11;22(6):989-1005. 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

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

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

AJR Am J Roentgenol 2019 Jan 13;212(1):215-221. Epub 2018 Nov 13.

1 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

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

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

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

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

JIMD Rep 2019 12;45:51-55. 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

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

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

Am J Med Genet A 2018 Dec 5;176(12):2575-2586. 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

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

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

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

J Clin Ultrasound 2019 Jan 23;47(1):42-43. Epub 2018 Sep 23.

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

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

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

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

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

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

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

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

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

J Ultrasound Med 2019 Mar 31;38(3):805-809. 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

World J Surg 2019 01;43(1):282-290

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

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

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

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

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

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

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