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Wiad Lek 2021 ;74(1):28-34

SUMY STATE UNIVERSITY, SUMY, UKRAINE.

Objective: The aim: Improving perinatal outcomes in pregnant women at high risk of intrauterine infection by developing diagnostic criteria and algorithms for managing pregnancy and childbirth.

Patients And Methods: Materials and methods: The study of pregnancy and childbirth was conducted in 72 patients at high risk of IUI, which formed the main group. The control group consisted of 64 patients with a low infectious risk of IUI. Read More

BMJ Case Rep 2021 Mar 10;14(3). Epub 2021 Mar 10.

Department for Obstetrics and Gynecology, Inselspital Bern Universitätsklinik für Frauenheilkunde, Bern, BE, Switzerland.

Congenital anomalies of the infrarenal inferior vena cava (IVC) are well described in adult life, however, little information exists on their associations in fetal life. Here, we describe a case of a monochorionic diamniotic (MCDA) twin pregnancy complicated by selective fetal growth restriction (sFGR) with an incidental finding of a double IVC in one child. In fetal life, variants of the infrarenal IVC are strongly associated with heart defects, which might suggest haemodynamic alterations or genetic causes, even more so in our case with MCDA twins complicated by sFGR. Read More

Diagnostics (Basel) 2021 Feb 28;11(3). Epub 2021 Feb 28.

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Read More

Obstet Gynecol 2021 Feb;137(2):e16-e28

Fetal growth restriction, also known as intrauterine growth restriction, is a common complication of pregnancy that has been associated with a variety of adverse perinatal outcomes. There is a lack of consensus regarding terminology, etiology, and diagnostic criteria for fetal growth restriction, with uncertainty surrounding the optimal management and timing of delivery for the growth-restricted fetus. An additional challenge is the difficulty in differentiating between the fetus that is constitutionally small and fulfilling its growth potential and the small fetus that is not fulfilling its growth potential because of an underlying pathologic condition. Read More

Neurogenetics 2021 03 7;22(1):43-51. Epub 2021 Jan 7.

Department of Genetics and Reference Center for Developmental Disorders, Lyon University Hospital, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.

Pathogenic variants in L1CAM, the gene encoding the L1 cell adhesion molecule, are responsible for a wide clinical spectrum including X-linked hydrocephalus with stenosis of the Sylvius aqueduct, MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), and a form of spastic paraplegia (SPG1). A moderate phenotype with mild intellectual disability (ID) and X-linked partial corpus callosum agenesis (CCA) has only been related to L1CAM in one family. We report here a second family, including 5 patients with mild to moderate ID and partial CCA without signs usually associated with L1CAM pathogenic variations (such as hydrocephalus, pyramidal syndrome, thumb adductus, aphasia). Read More

Eur J Obstet Gynecol Reprod Biol 2021 Feb 13;257:84-87. Epub 2020 Dec 13.

Queen Charlotte's & Chelsea Hospital, Du Cane Road, London W12 0HS, United Kingdom; Department of Obstetrics & Gynaecology, KU Leuven, 3000 Leuven, Belgium. Electronic address:

Objective: To investigate the relationship between the difference in estimated fetal weight and birthweight at or close to term, and in relation to Doppler parameters.

Study Design: A cohort study of all term singleton pregnancies who underwent an ultrasound within two weeks of delivery after 36 weeks at one institution in one calendar year. When available, Doppler measurements of umbilical and middle cerebral artery pulsatility index were recorded. Read More

BMC Med 2020 12 24;18(1):395. Epub 2020 Dec 24.

Department of Obstetrics and Gynaecology, University of Melbourne, Mercy Hospital for Women, 163 Studley Road, Heidelberg, VIC, 3084, Australia.

Background: Fetal growth restriction (FGR) due to placental insufficiency is a major risk factor for stillbirth. While small-for-gestational-age (SGA; weight < 10th centile) is a commonly used proxy for FGR, detection of FGR among appropriate-for-gestational-age (AGA; weight ≥ 10th centile) fetuses remains an unmet need in clinical care. We aimed to determine whether reduced antenatal growth velocity from the time of routine mid-trimester ultrasound is associated with antenatal, intrapartum and postnatal indicators of placental insufficiency among term AGA infants. Read More

Sci Rep 2020 12 17;10(1):22259. Epub 2020 Dec 17.

Division of Developmental Biology and Medicine, School of Medical Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.

Abnormal maternal serum biomarkers (AMSB), identified through the aneuploidy screening programme, are frequent incidental findings in pregnancy. They are associated with fetal growth restriction (FGR), but previous studies have not examined whether this association is with early-onset (< 34 weeks) or late-onset (> 34 weeks) FGR; as a result there is no consensus on management. The aims of this study were to determine the prevalence and phenotype of FGR in women with AMSB and test the predictive value of placental sonographic screening to predict early-onset FGR. Read More

Zhonghua Er Ke Za Zhi 2020 Dec;58(12):1006-1012

Department of Pediatrics, the Fujian Medical University Affiliated Fuzhou Children Hospital, Fuzhou 350001, China.

To investigate the clinical characteristics, treatment and prognosis of QARS1 gene related glutaminyl-tRNA synthetase deficiency. To summarize and analyze the clinical manifestations, imaging, laboratory examination, genetic variant characteristics and treatment of three patients from the Fujian Medical University Affiliated Union Hospital, the 900th Hospital of People's Liberation Army, the First Medical Center of People's Liberation Army General Hsopital carrying compound heterozygous variations in QARS1 gene with a long-term follow-up in China. A literature search was conducted using Wanfang, Weipu, China National Knowledge Infrastructure (CNKI) and Pubmed databases with the keywords "QARS", "QARS1" and "glutaminyl-tRNA Synthetase"(up to December 2019). Read More

Neurosci Lett 2021 01 24;741:135459. Epub 2020 Oct 24.

Department of Surgical and Biomedical Sciences, Section of Obstetrics and Gynecology, University of Perugia, Perugia, Italy; GeBiSa, Research Foundation, Perugia, Italy; Second Department of Obstetrics and Gynecology, I. M. Sechenov First State Medical University, 119992 Moscow, Russia; Centre of Perinatal and Reproductive Medicine, University of Perugia, Perugia, Italy.

Nerve Growth Factor (NGF) and Brain Derived Neurotrophic Factor (BDNF) are crucial for the peripheral and central nervous system development, respectively, and differential brain and blood levels in Intra Uterine Growth Restriction (IUGR) and prematurity have been found. As reduced growth of brain regions, measured at 30-40 days of postnatal period, has been demonstrated in preterm and IUGR neonates who showed impaired neuro-development at two years of age, in this study, the levels of NGF and BDNF were evaluated in the urine samples of 30-40 day-old subjects who were full-term, preterm and IUGR and showed a normal or an abnormal neuro-development at follow up after two years. Neurotrophins were measured concurrently with volumes of whole brain, thalamus, frontal cortex and cerebellum. Read More

Am J Med Genet A 2020 Nov 18. Epub 2020 Nov 18.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.

Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). Read More

Brain 2020 12;143(11):3242-3261

Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. Read More

Front Immunol 2020 8;11:564712. Epub 2020 Oct 8.

Centre of Molecular Inflammation Research, Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway.

Preeclampsia is a hypertensive and inflammatory pregnancy disorder associated with cholesterol accumulation and inflammation at the maternal-fetal interface. Preeclampsia can be complicated with fetal growth restriction (FGR) and shares risk factors and pathophysiological mechanisms with cardiovascular disease. Cholesterol crystal mediated NLRP3 inflammasome activation is central to cardiovascular disease and the pathway has been implicated in placental inflammation in preeclampsia. Read More

Aust N Z J Obstet Gynaecol 2021 02 24;61(1):116-122. Epub 2020 Oct 24.

Women's and Children's Division, Joan Kirner Women's and Children's at Sunshine Hospital, Western Health, Melbourne, Victoria, Australia.

Background: In response to the challenges of assessing fetal growth in obese women, guidelines recommend routine third trimester ultrasound scans.

Aim: The aim of this study was to assess the diagnostic performance of this routine scan in obese women (body mass index (BMI) ≥ 35 kg/m ).

Methods: A retrospective cohort study of 1008 pregnancies with maternal BMI ≥ 35 kg/m born after 37 weeks gestation at a Victorian hospital from 2015 to 2017. Read More

Acta Obstet Gynecol Scand 2021 03 6;100(3):504-512. Epub 2020 Nov 6.

Maternal Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.

Introduction: Early-onset fetal growth restriction and small-for-gestational age of fetuses lead to an increased risk of adverse pregnancy outcomes. Doppler abnormalities can predict the occurrence of complications in the short term, but normal fetal Doppler values at the time of diagnosis do not exclude their occurrence in the long term. The objective of this study was to investigate the capacity of a predictive model to assess individual risks for prenatal counseling at the time of diagnosis. Read More

Placenta 2020 11 7;101:251. Epub 2020 Jul 7.

Université de Lorraine, Inserm, IADI, F-54000, Nancy, France; CHRU-NANCY, Inserm, Université de Lorraine, CIC, Innovation Technologique, F-54000, Nancy, France.

Eur J Obstet Gynecol Reprod Biol 2020 Dec 10;255:51-55. Epub 2020 Oct 10.

Icahn School of Medicine at Mount Sinai, Department of Obstetrics, Gynecology, and Reproductive Science, Division of Maternal-Fetal Medicine, One Gustave L. Levy Place, New York, NY 10029, USA.

Objective: The placental cord insertion (PCI) to the placental margin has not been well studied as a continuous variable in relation to birth outcomes. We sought to evaluate the impact of PCI distance on outcomes associated with placental function and development of fetal growth restriction (FGR).

Study Design: This was a retrospective study of singleton gestations that underwent a fetal anatomy ultrasound from 2011-2013. Read More

BMJ Open 2020 10 19;10(10):e037751. Epub 2020 Oct 19.

Obstetric and Fetal Medicine Unit, CHRU Nancy, Nancy, France.

Introduction: Pre-eclampsia (PE) and intrauterine growth restriction (IUGR) are two major pregnancy complications, related to chronic uteroplacental hypoperfusion. Nowadays, there is no screening or diagnostic test for uteroplacental vascularisation deficiency in pregnant women. Since 2004, 3 three-imensional power Doppler (3DPD) angiography has been used for the evaluation of uteroplacental vascularisation and three vascular indices are usually calculated: Vascularisation Index (VI), Flow Index (FI) and vascularisation-FI (VFI). Read More

J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620961615

University of Florida, Gainesville, FL, USA.

Background: Toxoplasmosis gondii is ubiquitously present on earth and infection, including congenital infection, is common. Neurological, developmental, and ocular effects can be devastating in the congenital toxoplasmosis population. At present, there is no standard, nation-wide neonatal screening for this disease in the United States. Read More

Eur J Obstet Gynecol Reprod Biol 2020 Nov 25;254:302-307. Epub 2020 Sep 25.

Mater Research Institute, University of Queensland, Level 3 Aubigny Place, Raymond Terrace, South Brisbane, Queensland, 4101, Australia; Faculty of Medicine, University of Queensland, Whitty Building, Annerley Road, South Brisbane, Queensland, 4101, Australia. Electronic address:

Objective: Uterine contractions during labour can result in a 60 % decline in fetoplacental perfusion, predisposing the fetus to hypoxic brain injury. Sildenafil citrate (SC) has shown promise in increasing uteroplacental perfusion as well as reducing the risk of operative birth for intrapartum fetal compromise (IFC). The aim of this study was to investigate the effect of intrapartum SC administration on fetoplacental blood flow indices. Read More

Eur J Obstet Gynecol Reprod Biol 2020 Nov 17;254:170-174. Epub 2020 Sep 17.

Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Italy.

Objectives: The aim of this study was to evaluate obstetrical and perinatal outcomes in fetuses with short femur length diagnosed before or after 24 weeks of gestation.

Study Design: This was a prospective cohort study on singleton pregnancies with a diagnosis of fetal femur < 5 centile. Included patients were divided into two groups: patients with a first diagnosis of femur length < 5th percentile at 14-24 weeks (group A) and those with the first diagnosis made at > 24 weeks (group B). Read More

Acta Obstet Gynecol Scand 2021 02 15;100(2):235-243. Epub 2020 Oct 15.

Department of Obstetrics and gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.

Introduction: Chromosomal microarray analysis is recommended as the first-tier test for the evaluation of fetuses with structural anomalies. This study aims to investigate the incremental diagnostic yield of chromosomal microarray over conventional karyotyping analysis in fetuses with anomalies restricted to one anatomic system and those with nonspecific anomalies detected by sonography.

Material And Methods: This is a retrospective cohort analysis of 749 fetuses undergoing prenatal diagnosis for abnormal ultrasound findings isolated to one anatomic system and normal karyotype, utilizing chromosomal microarray. Read More

J Pediatr 2021 03 21;230:55-61.e4. Epub 2020 Sep 21.

Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.

Objective: To describe the clinical features, therapeutic interventions, and patient outcomes of gastrointestinal (GI) hemorrhage in individuals with a telomere biology disorder, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, and Coats plus.

Study Design: Clinical Care Consortium for Telomere Associated Ailments members were invited to contribute data on individuals with telomere biology disorders at their institutions who experienced GI bleeding. Patient demographic, laboratory, imaging, procedural, and treatment information and outcomes were extracted from the medical record. Read More

PLoS One 2020 21;15(9):e0239477. Epub 2020 Sep 21.

Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Mindelsohn Way, Edgbaston, United Kingdom.

Objective: Report maternal, fetal and neonatal complications associated with single intrauterine fetal death (sIUFD) in monochorionic twin pregnancies.

Design: Prospective observational study.

Setting: UK. Read More

Eur J Obstet Gynecol Reprod Biol 2020 Nov 2;254:87-94. Epub 2020 Sep 2.

Department of Gynaecology and Obstetrics, Máxima Medical Center, Veldhoven, the Netherlands; Eindhoven MedTech Innovation Center (e/MTIC), Eindhoven, the Netherlands; Department of Electrical Engineering, Eindhoven University of Technology, Eindhoven, the Netherlands.

Background Fetal growth restriction (FGR), defined as an estimated fetal weight (EFW)<10th percentile, is associated with an increased risk for adverse fetal and neonatal outcome. Early antenatal diagnosis is important and remains challenging. Deformation changes in the fetal myocardium are early signs of myocardial dysfunction. Read More

J Clin Endocrinol Metab 2020 12;105(12)

Department of Ultrasound Diagnosis, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

Objective: To characterize the inferior adrenal artery (IAA) pulsatility index (PI) in intrauterine growth-restricted (IUGR) fetuses without brain sparing.

Methods: Twenty-three IUGR fetuses with a normal Doppler cerebroplacental ratio (CPR) and 23 normal controls were included in this prospective cross-sectional study. The PI of the IAA was recorded using routine transabdominal Doppler ultrasound. Read More

Biochem Pharmacol 2020 12 12;182:114217. Epub 2020 Sep 12.

King's College London - St Thomas' Hospital, London UK; Department of Basic Medical Sciences, College of Medicine, member of QU Health, Qatar University, Doha, Qatar. Electronic address:

Objectives: A previous pilot study showed that pravastatin supplementation improved pregnancy outcomes in women with obstetric antiphospholipid syndrome (OAPS) that developed placental insufficiency despite standard of care treatment low molecular weight heparin plus low dose aspirin (LMWH + LDA). In this study we investigated the mechanism behind the beneficial effects of the triple therapy LMWH + LDA + pravastatin in improving uteroplacental vascular function and reducing pregnancy complications in OAPS. We hypothesized that nitric oxide (NO) is involved in the vasculoprotective effects of the triple therapy. Read More

Ophthalmic Genet 2020 12 31;41(6):645-649. Epub 2020 Aug 31.

John F Hardesty Department of Ophthalmology and Visual Sciences, Washington University School of Medicine , St Louis, MO, USA.

Purpose: To describe a unique ocular presentation of Cat Eye Syndrome and review the ocular and systemic findings associated with the syndrome.

Methods: Case report with multimodal imaging.

Results: A newborn female presented with a unilateral Peters anomaly with contralateral microphthalmia with cyst. Read More

Am J Obstet Gynecol 2020 11 27;223(5):B16-B20. Epub 2020 Aug 27.

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

Approximately 20% of twin pregnancies are monochorionic. The management of monochorionic twin pregnancy involves several additional interventions beyond the routine management of singletons or dichorionic twins. In 2015, the Society for Maternal-Fetal Medicine posted checklists for monochorionic/diamniotic twins and monochorionic/monoamniotic twins. Read More