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Oman Med J 2014 Jul;29(4):e076

Department of Pathology, Sultan Qaboos University Hospital, Muscat, Oman.

Placental chorangioma is a rare, benign, placental neoplasm associated with a myriad foetomaternal and neonatal complications. Voluminous chorangiomas have frequent complications and adverse outcomes. The successful outcome of a pregnancy complicated by a voluminous chorangioma is reported herein, with the literature review. Read More

Ann Hum Genet 2019 Apr 12. Epub 2019 Apr 12.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities. Read More

Cir Cir 2019 ;86(1):81-89

Molecular Medicine, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social. Guadalajara, Jal. México.

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino).

Clinical Case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. Read More

J Obstet Gynaecol 2019 Mar 27. Epub 2019 Mar 27.

b Department of Neurophysiology , Institute for Biological Research "Siniša Stankovic", University of Belgrade , Belgrade , Serbia.

Case Rep Obstet Gynecol 2019 14;2019:4290145. Epub 2019 Feb 14.

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

Myotonic dystrophy is an autosomal-dominant disorder. Its congenital type is the most severe form, with respiratory failure that can be a life-threatening event after birth. There are no antenatal treatments that can improve neonatal outcomes of myotonic dystrophy. Read More

PLoS One 2019 22;14(3):e0213006. Epub 2019 Mar 22.

Department of Gynecology and Obstetrics, São Paulo State University (UNESP), Medical School, Botucatu, São Paulo, Brazil.

Background: Trials have examined on the benefits of vitamin D supplementation in pregnant women.

Objective: This review aimed to evaluate whether oral vitamin D supplements, when given to pregnant women with gestational diabetes mellitus (GDM), would improve maternal and neonatal outcomes, compared with no treatment or placebo.

Method: We performed a systematic review following Cochrane methodology, and randomized trials were included where pregnant women with GDM received vitamin D supplementation versus placebo/no treatment or vitamin D and calcium versus placebo/no treatment. Read More

Fetal Diagn Ther 2019 Mar 20:1-8. Epub 2019 Mar 20.

The Fetal Center, Children's Memorial Hermann Hospital and the Department of Obstetrics and Gynecology, McGovern Medical School, UTHealth, Houston, Texas, USA.

Background: Sacrococcygeal teratomas (SCT) are often highly vascularized and may result in high-output cardiac failure, polyhydramnios, fetal hydrops, and demise. Delivery is guided by the SCT to fetus volume ratio (SCTratio), SCT growth rate, and cardiac output indexed for weight (CCOi).

Methods: We compared measurements and outcome in 12 consecutive fetuses referred with SCT. Read More

Ginekol Pol 2019 ;90(2):93-99

Division of Reproduction, Department of Gynecology and Obstetrics, Poznan University of Medical Sciences, Poland.

Objectives: The aim of our work was to assess the development of children with antenatally diagnosed idiopathic poly- hydramnios, over 12 months from the end of pregnancy.

Material And Methods: The study included 91 healthy pregnant patients with idiopathic polyhydramnios. Diagnostic tests results and perinatal medical history were obtained retrospectively. Read More

Acta Obstet Gynecol Scand 2019 Mar 2. Epub 2019 Mar 2.

Center for Pregnant Women with Diabetes, Rigshospitalet University Hospital, Copenhagen, Denmark.

Introduction: The objective was to evaluate the effectiveness of routine (planned) antenatal nonstress tests (NSTs) in pregnant women with preexisting diabetes.

Material And Methods: A retrospective single-center study of 642 consecutive pregnancies in women with preexisting diabetes who gave birth to a singleton ≥22 weeks. Weekly planned NSTs were commenced at 33-35 weeks. Read More

Eur J Obstet Gynecol Reprod Biol 2019 Apr 15;235:62-65. Epub 2019 Feb 15.

Department of Obstetrics and Gynecology, Shiga University of Medical Science Hospital, Otsu, Japan.

Objectives: Our study aimed to analyze the differences in intra-amniotic pressures in patients with polyhydramnios with and without symptoms.

Study Design: We recruited patients with pregnancies in which amnioreduction was performed for polyhydramnios in the Department of Fetal-Maternal Medicine at Nagara Medical Center between April 2017 and August 2018. Amnioreduction was performed for severe polyhydramnios with maternal symptoms [symptomatic group] or polyhydramnios without maternal symptoms [asymptomatic group] such as abdominal distension, dyspnea, or threatened premature labor. Read More

Z Geburtshilfe Neonatol 2019 Feb 21;223(1):15-25. Epub 2019 Feb 21.

Geburtshilfe und Pränatale Diagnostik, St. Elisabeth-Krankenhaus Leipzig, Leipzig.

Oesophageal atresia causes a dysplasia of the oesophagus with or without a connection to the adjoining trachea. Prenatal ultrasound results are not specific enough to confirm a suspected diagnosis. In addition to polyhydramnios and a small or absent stomach, the so-called "pouch sign" reinforces the suspected diagnosis. Read More

Am J Obstet Gynecol 2019 Feb 18. Epub 2019 Feb 18.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

Background: Amniotic fluid is essential to normal fetal development and is estimated clinically with ultrasound scanning to identify pregnancies that are at risk for poor perinatal outcome.

Objective: Our goal was to develop a United States standard for amniotic fluid volume that is estimated by the amniotic fluid index and single deepest pocket.

Study Design: We performed a planned secondary analysis of a multicenter observational study of 2334 low-risk women with normal singleton gestations from 1 of 4 self-reported racial/ethnic groups. Read More

J Matern Fetal Neonatal Med 2019 Feb 20:1-9. Epub 2019 Feb 20.

e Obstetrical Intensive Care Unit, Maternal-Infant Department , Fundación Valle del Lili , Cali , Colombia.

Objective: Ureaplasma urealyticum and Mycoplasma hominis are the most common microorganisms found in the amniotic fluid of patients at risk for preterm delivery. However, culture techniques for genital mycoplasms require special conditions, are barely considered as part of the evaluation of suspected intra-amniotic infection (IAI) and the results are available within 2 and 7 days. The objectives of this study are to validate the use of two commercially available kits (Mycoplasma IES y MYCOFAST RevolutioN) for the identification of Ureaplasma spp. Read More

Prenat Diagn 2019 Feb 19. Epub 2019 Feb 19.

Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Purpose: Prenatal occurrence and timing of appearance of associated features in Beckwith-Wiedemann syndrome (BWS) are unknown. We reviewed our BWS patients with serial fetal imaging and correlated these with postnatal findings.

Methods: All BWS patients with fetal ultrasound (US) or magnetic resonance imaging (MRI) from 2000 to 2016 were reviewed to determine the presence of polyhydramnios, placentamegaly, macrosomia, macroglossia, retrognathia, omphalocele, visceromegaly, and hemihypertrophy. Read More

Arch Gynecol Obstet 2019 Apr 8;299(4):961-967. 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 Mar;39(4):287-292

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

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 was 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 Paediatric 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, magnetic resonance imaging and amniotic fluid analysis in detecting esophageal atresia 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 2019 Feb 13;85(3):339-348. 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 2019 Apr;47(3):319-322

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) 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

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