1,266 results match your criteria Prenatal Imaging Findings in Down Syndrome


[Analysis of 21 723 Pregnant Women's First Trimester Screening for Down Syndrome in Sichuan Province].

Sichuan Da Xue Xue Bao Yi Xue Ban 2020 Jan;51(1):49-53

Department of Obstetric and Gynecologic, West China Second University Hospital, Sichuan University, Chengdu 610041, China.

Objective: To compare the effect of different first-trimester screening programmes for Down syndrome in Sichuan Province.

Methods: We retrospectively collected the data of singleton pregnancies that were screened by serum biochemistry markers combined with nuchal translucency screening tests in the first trimester in Prenatal Diagnosis Center of West China Second University Hospital of Sichuan University from January 2011 to December 2017. The fetal chromosome results were obtained by amniocentesis or by telephone follow-up. Read More

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http://dx.doi.org/10.12182/20200160504DOI Listing
January 2020

Non-Invasive Prenatal Testing beyond Trisomies.

J Med Life 2019 Jul-Sep;12(3):221-224

Department of Obstetrics and Gynecology, Alessandrescu-Rusescu Institute of Mother and Child Care, Bucharest, Romania.

The last decade has seen incredible advances in the genetic era, in next-generation sequencing of cell-free DNA in the maternal plasma, detecting abnormal fetal chromosomes. Non-invasive prenatal testing (NIPT) has showed increased sensitivity and specificity for Down syndrome superior to any other screening test. Technical advances have made possible the detection of other conditions which does not necessarily mean clinical benefit for the patient. Read More

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http://dx.doi.org/10.25122/jml-2019-0053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814886PMC
December 2019
3 Reads

Measurement of inferior facial angle and prefrontal space ratio in first trimester fetuses with aneuploidies: a retrospective study.

J Perinat Med 2019 Nov;47(9):969-978

University Hospital Rechts der Isar, Department of Gynaecology and Obstetrics, Technical University of Munich, Munich, Germany.

Objective To determine whether the measurement of inferior facial angle (IFA) and prefrontal space ratio (PFSR) in two-dimensional (2D) ultrasound images in the first trimester of pregnancy is reliable and to describe these markers in normal and aneuploid fetuses. Methods IFA and PFSR were measured in stored 2D midsagittal images of 200 normal and 140 aneuploid fetal profiles between 11 + 0 and 13 + 6 weeks of gestation. Limits of agreement (LOAs) and intraclass correlation coefficients (ICCs) for inter- and intraobserver differences were calculated. Read More

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http://dx.doi.org/10.1515/jpm-2019-0173DOI Listing
November 2019

Usefulness of Postnatal Echocardiography in Patients with Down Syndrome with Normal Fetal Echocardiograms.

Pediatr Cardiol 2019 Dec 20;40(8):1716-1721. Epub 2019 Sep 20.

Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.

The objective of this study is to evaluate if the diagnosis of a complex congenital heart disease (CHD) was missed in a patient with Down syndrome (DS) who had a fetal echocardiogram that was read as normal. Secondary goal of this study was to determine if any CHD was missed postnatally when a fetal echocardiogram was read as normal. A retrospective chart review of children with DS at Nationwide Children's Hospital whose birthdates were between 1/1/2010 and 12/31/2017 was performed. Read More

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http://dx.doi.org/10.1007/s00246-019-02209-wDOI Listing
December 2019
3 Reads

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

Eur J Obstet Gynecol Reprod Biol 2019 Sep 16;240:232-241. Epub 2019 Jul 16.

Center for Human Genetics, Saint-Luc University Hospital, UCL, Brussels, Belgium.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. This paper is a case study and review of literature. "RASopathies" is the term coined for a group of genetic diseases that share modulation inside the MAPKinase pathway. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2019.06.035DOI Listing
September 2019
7 Reads

3D Ultrasound Evaluation of the Fetal Outer Ear: Novel Biometry Ratio and Comparison of Different Surface Display Modes.

Fetal Diagn Ther 2019 29;46(3):200-206. Epub 2019 Mar 29.

Department of Gynecology and Obstetrics, University Hospital Münster, Münster, Germany.

Background: The examination of the fetal ear is a promising but still challenging approach in prenatal diagnosis.

Objectives: This study investigated a novel ear length/width ratio based on anatomical landmarks. Additionally, we compared different 3D ultrasound surface rendering modes regarding their potential to depict detailed structures of the outer ear. Read More

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http://dx.doi.org/10.1159/000497145DOI Listing
February 2020
3 Reads

Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review.

Ultrasound Obstet Gynecol 2019 Jun;53(6):810-815

The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Objectives: Fetal aberrant right subclavian artery (ARSA) is a relatively common sonographic finding. Several studies have reported a significant association between ARSA and Down syndrome, as well as 22q11.2 microdeletion. Read More

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http://doi.wiley.com/10.1002/uog.20208
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http://dx.doi.org/10.1002/uog.20208DOI Listing
June 2019
4 Reads

Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review.

Medicine (Baltimore) 2018 Nov;97(45):e13094

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital.

Rationale: Chromosome deletion/duplication has been reported to be associated with mental disability and dysmorphism according to the accumulated research evidence.

Patient Concerns: A 25-year-old woman underwent amniocentesis for cytogenetic and single-nucleotide polymorphism (SNP) array analysis at 18 weeks of gestation due to the increased Down syndrome risk of 1/13.

Diagnoses: The fetal chromosomal analysis revealed a seemingly "normal" chromosomal karyotype, but the SNP array results showed a partial duplication of chromosome 4q34. Read More

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http://dx.doi.org/10.1097/MD.0000000000013094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250448PMC
November 2018
13 Reads

Danish Sonographers' Experiences of the Introduction of "Moderate Risk" in Prenatal Screening for Down Syndrome.

J Pregnancy 2018 9;2018:1646035. Epub 2018 Oct 9.

Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.

Objective: The aim of the study was to determine sonographers' experiences with the introduction of an offer of noninvasive prenatal testing (NIPT) to a new moderate-risk (MR) group at the combined first-trimester prenatal screening (cFTS).

Study Design: A qualitative approach consisting of seven semistructured interviews with five sonographers (midwives and nurses). Data was analyzed using thematic analysis. Read More

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http://dx.doi.org/10.1155/2018/1646035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198582PMC
January 2019
11 Reads

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.

Obstet Gynecol 2018 12;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

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http://dx.doi.org/10.1097/AOG.0000000000002975DOI Listing
December 2018
38 Reads

Prenatal screening for Down syndrome in twin pregnancies: Estimates of screening performance based on 61 affected and 7302 unaffected twin pregnancies.

Prenat Diagn 2018 12;38(13):1079-1085

Fetal Anomaly Screening Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.

The aims of this study were to determine whether assumptions used in prenatal screening for Down syndrome in twin pregnancies are valid and derive estimates of risk and screening performance in twin pregnancies using observed data. Data were collected on nuchal translucency, chorionicity, pregnancy associated plasma protein-A (PAPP-A), and free ß human chorionic gonadotrophin (free ß-hCG) from 61 twin pregnancies with Down syndrome and 7302 unaffected twin pregnancies. Distribution parameters were determined and used to estimate screening performance. Read More

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http://doi.wiley.com/10.1002/pd.5381
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http://dx.doi.org/10.1002/pd.5381DOI Listing
December 2018
29 Reads

Should second-trimester hypoplastic nasal bone be sole indication for diagnostic testing with chromosomal microarray analysis?

Authors:
E Lostchuck L Hui

Ultrasound Obstet Gynecol 2019 Jun;53(6):848-850

Reproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/uog.20141DOI Listing
June 2019
2 Reads

Hindbrain morphometry and choroid plexus position in differential diagnosis of posterior fossa cystic malformations.

Ultrasound Obstet Gynecol 2019 Aug;54(2):207-214

Fetopathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Objective: To assess the differential diagnostic significance of a series of quantitative and qualitative variables of the cerebellar vermis in fetuses with posterior fossa cystic malformation, including Dandy-Walker malformation (DWM), vermian hypoplasia (VH) and Blake's pouch cyst (BPC).

Methods: This was a retrospective study of confirmed cases of DWM, VH and BPC, diagnosed at the Fetal Medicine and Surgery Unit of the Federico II University between January 2005 and June 2013 or the Fetal Medicine and Surgery Unit of G. Gaslini Hospital between July 2013 and September 2017. Read More

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http://dx.doi.org/10.1002/uog.20120DOI Listing
August 2019
5 Reads

Trisomy 21 screening based on first and second trimester in a Taiwanese population.

Taiwan J Obstet Gynecol 2018 Aug;57(4):551-554

Department of Gynecology and Obstetrics, Women and Children Branch, Taipei City Hospital, Taipei, Taiwan; Department of Biomedical Engineering, National Yang Ming University, Taipei, Taiwan. Electronic address:

Objective: This study investigates the performance of first- and second-trimester screening tests for detecting fetal trisomy 21 in a Taiwanese population.

Materials And Methods: This multicenter study 29,137 cases enrolled the chromosomal abnormality screening between 2013 and 2014 two years period from Taipei city. There were 23,990 was done the first trimester screening using a combination of fetal nuchal translucency, maternal serum β-human chorionic gonadotropin, and pregnancy-associated plasma protein-A between 11 and 13 weeks of gestation age. Read More

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http://dx.doi.org/10.1016/j.tjog.2018.06.014DOI Listing
August 2018
6 Reads

Number of Risk Factors in Down Syndrome Pregnancies.

Am J Perinatol 2019 01 17;36(1):79-85. Epub 2018 Jul 17.

Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center and Parkland Hospital, Dallas, Texas.

Objective: The objective of this study was to evaluate risk factor prevalence in pregnancies with fetal Down syndrome, in an effort to characterize efficacy of population-based screening.

Study Design: Retrospective review of singleton pregnancies with delivery of live born or stillborn infant with Down syndrome from 2009 through 2015. Risk factor categories included maternal age ≥35 years, abnormal serum screening, identification of ≥1 ultrasound marker at 16 to 22 weeks (nuchal thickness ≥6 mm, echogenic intracardiac focus, echogenic bowel, renal pelvis dilatation, femur length Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1666974
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http://dx.doi.org/10.1055/s-0038-1666974DOI Listing
January 2019
26 Reads

Facial profile and additional features in fetuses with trisomy 21.

Clin Dysmorphol 2018 Oct;27(4):126-129

Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000234DOI Listing
October 2018
10 Reads
0.416 Impact Factor

A clinical audit of combined first trimester screening and non-invasive prenatal testing offered to pregnant women in a regional Australian hospital.

Aust N Z J Obstet Gynaecol 2019 02 9;59(1):157-160. Epub 2018 Jul 9.

James Cook University College of Medicine, Cairns, Queensland, Australia.

The records of women attending a large Australian regional hospital for antenatal care were retrospectively analysed to determine what proportion had undergone or been offered first trimester screening for fetal abnormalities; only 609 (54%) of 1114 women had undergone or been offered screening. Younger women, multiparous women and women living in rural Australia were less likely to be offered screening. Barriers to screening and solutions for overcoming these need to be identified to improve access and equality in antenatal screening for all women. Read More

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http://dx.doi.org/10.1111/ajo.12842DOI Listing
February 2019
3 Reads

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

Objective: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families.

Methods: We used whole-exome sequencing (WES) (families 1 and 2) and a combined approach based on homozygosity mapping and WES (family 3). We performed in vitro studies to explore the effect of the nontruncating mutation on protein function and the effect of impaired SQSTM1 function on autophagy. Read More

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
July 2018
41 Reads

False-Positive Rate in First-Trimester Screening Based on Ultrasound and Cell-Free DNA versus First-Trimester Combined Screening with Additional Ultrasound Markers.

Fetal Diagn Ther 2019 25;45(5):317-324. Epub 2018 Jun 25.

Department of Women's Health, University Women's Hospital Tübingen, Tübingen, Germany.

Objective: To determine whether screening for trisomy 21 based on first-trimester combined screening (FTCS) with assessment of nasal bone (NB), tricuspid flow (TCF), and ductus venosus flow (DVF) results in similar false-positive rates compared to ultrasound and cell-free DNA (cfDNA) screening.

Methods: This is a subanalysis of a prospective randomized controlled trial which was performed between October 2015 and December 2016. Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation were randomized into two groups: (1) FTCS with assessment of the NB, TCF, and DVF (extended FTCS [eFTCS]), and (2) ultrasound + cfDNA screening. Read More

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http://dx.doi.org/10.1159/000489121DOI Listing
December 2019
2 Reads

Incidental Fetal Ultrasound Findings: Interpretation and Management.

J Midwifery Womens Health 2018 05 15;63(3):323-329. Epub 2018 May 15.

Ultrasonography is a common component of prenatal care worldwide and is often used in early pregnancy to determine gestational age, number of fetuses, fetal cardiac activity, and placental location. Patients and their families may also consider ultrasonography a social event, as it provides confirmation and reassurance of a normal pregnancy. Ultrasound screening is typically scheduled in the second trimester to visualize fetal anatomy and confirm gestational age. Read More

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http://dx.doi.org/10.1111/jmwh.12754DOI Listing

Epidemiology of orofacial clefts in a Danish county over 35 years - Before and after implementation of a prenatal screening programme for congenital anomalies.

Eur J Med Genet 2018 Sep;61(9):489-492

Paediatric Department, Hospital Lillebaelt - Kolding, Denmark. Electronic address:

In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.05.016DOI Listing
September 2018
7 Reads

Application of noninvasive prenatal testing in pregnancies with fetal double bubble sign: Is it feasible?

Prenat Diagn 2018 05 30;38(6):402-405. Epub 2018 Mar 30.

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

Objective: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign.

Methods: This was a retrospective analysis of 92 pregnancies with fetal double bubble identified by prenatal ultrasound, in which invasive diagnostic testing was performed for genetic investigations using quantitative fluorescence PCR and chromosomal microarray. Noninvasive prenatal testing was assumed to provide to patients for screening for the common aneuploidies. Read More

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http://dx.doi.org/10.1002/pd.5248DOI Listing
May 2018
21 Reads

Imaging single DNA molecules for high precision NIPT.

Sci Rep 2018 03 14;8(1):4549. Epub 2018 Mar 14.

Harris Birthright Research Centre for Fetal Medicine, London, UK.

Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing. Read More

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http://www.nature.com/articles/s41598-018-22606-0
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http://dx.doi.org/10.1038/s41598-018-22606-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852104PMC
March 2018
43 Reads

A new comprehensive paradigm for prenatal diagnosis: seeing the forest through the trees.

Authors:
A Borrell

Ultrasound Obstet Gynecol 2018 Nov;52(5):563-568

Barcelona Center for Maternofetal and Neonatal Medicine, Hospital Clínic Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/uog.19035DOI Listing
November 2018
10 Reads

Obstetric Sonography: Why Are We Still Terrifying Pregnant Women?

J Ultrasound Med 2018 Sep 26;37(9):2277-2278. Epub 2018 Feb 26.

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

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http://dx.doi.org/10.1002/jum.14572DOI Listing
September 2018
6 Reads

Quality management of nuchal translucency ultrasound measurement in Australia.

Aust N Z J Obstet Gynaecol 2019 02 22;59(1):54-58. Epub 2018 Feb 22.

Sydney Ultrasound for Women, Sydney, New South Wales, Australia.

Background: Nuchal translucency measurement has an established role in first trimester screening. Accurate measurement requires that technical guidelines are followed. Performance can be monitored by auditing the distribution of measurements obtained in a series of cases. Read More

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http://dx.doi.org/10.1111/ajo.12792DOI Listing
February 2019
4 Reads

How to Integrate Cell-Free DNA Screening With Sonographic Markers for Aneuploidy: An Update.

AJR Am J Roentgenol 2018 Apr 15;210(4):906-912. Epub 2018 Feb 15.

2 Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Utah Health Sciences, Salt Lake City, UT.

Objective: The sonologist detects a so-called "soft marker" during approximately 10% of routine second-trimester anatomy examinations and is often uncertain about what further management is appropriate. This article will specifically address the management of patients with sonographic markers for six common entities: choroid plexus cysts (CPCs), ventriculomegaly (VM), echogenic intracardiac focus (EIF), urinary tract dilation (UTD), fetal echogenic bowel (FEB), and femoral and humeral shortening. The use of cell-free DNA screening and its relationship to these sonographic findings will be reviewed. Read More

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http://dx.doi.org/10.2214/AJR.17.18343DOI Listing
April 2018
8 Reads

Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

BMC Med Genomics 2018 02 13;11(1):19. Epub 2018 Feb 13.

Department of Genetics and Bioengineering, International Burch University, Francuske revolucije bb, Ilidza, 71210, Sarajevo, Bosnia and Herzegovina.

Background: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Read More

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http://dx.doi.org/10.1186/s12920-018-0333-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812210PMC
February 2018
13 Reads

Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature.

J Perinatol 2018 05 6;38(5):468-473. Epub 2018 Feb 6.

Genetics Institute, Carmel Medical Center, Haifa, Israel.

Objective: To examine the risk for clinically significant chromosomal microarray analysis (CMA) findings in fetal right aortic arch (RAA).

Methods: Data from all CMA analyses performed owing to isolated RAA reported to the Israeli Ministry of Health between January 2013 and September 2016 were evaluated retrospectively. Risk for abnormal CMA findings was compared with two control populations, based on both previously described 9272 pregnancies with normal ultrasound, and on a local cohort of 5541 pregnancies undergoing CMA testing owing to maternal request. Read More

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http://dx.doi.org/10.1038/s41372-018-0062-6DOI Listing
May 2018
12 Reads

Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21.

J Matern Fetal Neonatal Med 2019 Jul 5;32(14):2280-2286. Epub 2018 Feb 5.

b Naturalis Biodiversity Center , Leiden , The Netherlands.

Purpose: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies.

Materials And Methods: Radiographs of 67 deceased fetuses, neonates, and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. Read More

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http://dx.doi.org/10.1080/14767058.2018.1431622DOI Listing
July 2019
4 Reads

Screening for fetal growth restriction using fetal biometry combined with maternal biomarkers.

Am J Obstet Gynecol 2018 02 22;218(2S):S725-S737. Epub 2017 Dec 22.

Department of Obstetrics and Gynaecology, National Institute for Health Research Cambridge Comprehensive Biomedical Research Center, and Center for Trophoblast Research, Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom. Electronic address:

Fetal growth restriction is a major determinant of perinatal morbidity and mortality. Screening for fetal growth restriction is a key element of prenatal care but it is recognized to be problematic. Screening using clinical risk assessment and targeting ultrasound to high-risk women is the standard of care in the United States and United Kingdom, but the approach is known to have low sensitivity. Read More

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http://dx.doi.org/10.1016/j.ajog.2017.12.002DOI Listing
February 2018
20 Reads

Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women.

Acta Obstet Gynecol Scand 2018 Feb 14;97(2):180-186. Epub 2017 Dec 14.

Ultrasound Department, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.

Introduction: The aim of this study was to evaluate the value of absent fetal nasal bone in the prediction of fetal chromosomal abnormalities, according to whether it was associated with other soft markers or structural abnormalities in a prescreened population of Chinese pregnant women.

Material And Methods: In this retrospective cohort study, women whose fetuses had absent nasal bone detected during the second trimester ultrasound scan were followed. Fetal karyotyping was performed and pregnancy outcomes were recorded. Read More

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http://dx.doi.org/10.1111/aogs.13263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814939PMC
February 2018
16 Reads

Isolated aberrant right subclavian artery at 14-16 weeks of gestation and Down syndrome.

J Clin Ultrasound 2018 Jan 28;46(1):62-63. Epub 2017 Oct 28.

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

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http://dx.doi.org/10.1002/jcu.22543DOI Listing
January 2018
9 Reads

Women's Understanding and Attitudes towards Down Syndrome and Other Genetic Conditions in the Context of Prenatal Screening.

J Genet Couns 2018 06 24;27(3):647-655. Epub 2017 Oct 24.

School of Women's and Infants' Health, The University of Western Australia, Perth, WA, Australia.

In order to explore the impact of potential new technologies in the area of prenatal screening, we conducted a baseline study using qualitative interviews to explore women's attitudes and knowledge regarding current and future prenatal screening technology and methods. Three cohorts were interviewed, including healthy women without children, healthy women with healthy children, and healthy women with children who have de novo genetic disorders. This study aimed to assess the baseline understanding and attitudes of women in Western Australia. Read More

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http://dx.doi.org/10.1007/s10897-017-0167-7DOI Listing
June 2018
14 Reads

Prenatal diagnosis of low-level mosaicism for trisomy 21 with rare karyotype detected by noninvasive prenatal testing.

Taiwan J Obstet Gynecol 2017 Oct;56(5):703-705

Medical Laboratory Center, The Affiliated Yantai Yu Huang Ding Hospital of Qingdao University Medical College, Shandong, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10284559173021
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http://dx.doi.org/10.1016/j.tjog.2017.08.027DOI Listing
October 2017
15 Reads

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.

Ultrasound Obstet Gynecol 2018 Apr;51(4):493-502

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

Objectives: To evaluate the diagnostic yield of prenatal whole exome sequencing (WES) for monogenic disorders in fetuses with structural malformations and normal results on cytogenetic testing, and to describe information on pathogenic variants that is provided by WES.

Methods: Karyotyping, chromosomal microarray analysis (CMA) and WES were performed sequentially on stored samples from a cohort of 3949 pregnancies with fetal structural abnormalities detected on ultrasound and/or magnetic resonance imaging, referred between January 2011 and December 2015. Diagnostic rates of the three techniques were investigated overall, for phenotypic subgroups and for proband-only vs fetus-mother-father samples. Read More

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http://dx.doi.org/10.1002/uog.18915DOI Listing
April 2018
9 Reads

Middle pregnancy ultrasound screening for fetal chromosomal diseases.

Mol Med Rep 2017 Nov 20;16(5):7641-7648. Epub 2017 Sep 20.

Department of Genetic and Reproductive Science, The Xiangtan Central Hospital, Xiangtan, Hunan 411413, P.R. China.

Prenatal examinations, including serological screening and ultrasound screening, are the methods determining a risk of fetal chromosomal disease. The current study is aimed to assess whether ultrasound screening can effectively assist the screening for fetal chromosomal disease among pregnant women with a single abnormal serum marker. Following serologic screening, pregnant women at 18‑32 weeks underwent systematic fetal ultrasound analysis. Read More

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http://dx.doi.org/10.3892/mmr.2017.7548DOI Listing
November 2017
22 Reads

Phenomenology of pregnancy and the ethics of abortion.

Authors:
Fredrik Svenaeus

Med Health Care Philos 2018 Mar;21(1):77-87

Centre for Studies in Practical Knowledge, Södertörn University, 141 89, Huddinge, Sweden.

In this article I investigate the ways in which phenomenology could guide our views on the rights and/or wrongs of abortion. To my knowledge very few phenomenologists have directed their attention toward this issue, although quite a few have strived to better understand and articulate the strongly related themes of pregnancy and birth, most often in the context of feminist philosophy. After introducing the ethical and political contemporary debate concerning abortion, I introduce phenomenology in the context of medicine and the way phenomenologists have understood the human body to be lived and experienced by its owner. Read More

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http://link.springer.com/10.1007/s11019-017-9786-x
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http://dx.doi.org/10.1007/s11019-017-9786-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814550PMC
March 2018
5 Reads

Prenatal diagnosis of transient abnormal myelopoiesis in three fetuses with Down syndrome: heterogeneous ultrasonographic findings and outcomes.

Ultrasound Obstet Gynecol 2018 Mar;51(3):412-413

Department of Obstetrics and Gynecology, Fondazione IRCCS Policlinico San Matteo Ringgold Standard Institution, Pavia, Italy.

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http://dx.doi.org/10.1002/uog.17545DOI Listing
March 2018
3 Reads

First-trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency, and different methods of ductus venosus assessment.

Prenat Diagn 2017 Jul 1;37(7):680-685. Epub 2017 Jun 1.

Department of Obstetrics and Gynaecology, University of Tuebingen, Tuebingen, Germany.

Objective: To examine whether combining the dichotomous assessment of the a-wave and the ductus venosus (DV) pulsatility index for veins (PIV) measurement improves first-trimester screening performance.

Methods: Retrospective study performed at the University Hospital of Tuebingen based on singleton pregnancies that underwent first-trimester screening including DV flow assessment. In each case, the risk of trisomy 21 was calculated based on maternal age, fetal nuchal translucency, and DV flow either as dichotomous classification of the a-wave, as measurement of the DV PIV, or both. Read More

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http://doi.wiley.com/10.1002/pd.5065
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http://dx.doi.org/10.1002/pd.5065DOI Listing
July 2017
47 Reads

Prenatal Phenotype of Down Syndrome Using 3-D Virtual Reality.

J Obstet Gynaecol Can 2017 Oct 6;39(10):886-889. Epub 2017 May 6.

Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo, São Paulo, Brazil. Electronic address:

Background: Down syndrome is a chromosomal abnormality characterized by an additional acrocentric chromosome, resulting in an aneuploid number of 47 chromosomes (trisomy 21). Fetal face phenotype of Down syndrome is typical in the second trimester and characterized by plane face and a big and protruding tongue.

Case: We present a case of Down syndrome at 29 weeks of gestation in which the fetal face was created using 3-D virtual reality model from 3-D ultrasound scan data. Read More

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http://dx.doi.org/10.1016/j.jogc.2017.03.100DOI Listing
October 2017
10 Reads

Prenatal diagnosis of trisomy 20 mosaicism associated with hypoplastic nasal bone as a single sonographic marker.

Eur J Obstet Gynecol Reprod Biol 2017 Jun 7;213:140-141. Epub 2017 Apr 7.

Department of Obstetrics and Gynecology, Ioannina State General Hospital "G. Chatzikosta", Ioannina, Greece. Electronic address:

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http://dx.doi.org/10.1016/j.ejogrb.2017.02.008DOI Listing
June 2017
3 Reads

Detection Rate and Sonographic Signs of Trisomy 21 Fetuses at 14-17 Weeks of Gestation.

Isr Med Assoc J 2017 Jan;19(1):8-12

Department of Obstetrics.

Background: Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation.

Objectives: To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks gestation. Read More

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January 2017
20 Reads

Antenatal prognostic factor of fetal echogenic bowel.

Eur J Obstet Gynecol Reprod Biol 2017 May 3;212:166-170. Epub 2017 Mar 3.

Department of Gynecology and Obstetrics, Pole femme enfant, Marseille, Hôpital Nord, Assistance Publique-Hôpitaux de Marseille, AMU, Aix-Marseille Université and A*MIDEX «CREER» (n° ANR-11-IDEX-0001-02), France; Aix-Marseille Université, Unité de Recherche sur les Maladies Infectieuses Tropicales et Emergentes, UM63, CNRS 7278, IRD 198, INSERM 1095, Marseille, France; Center for Prenatal Diagnosis, Timone Children's Hospital, Assistance Publique Hopitaux de Marseille, Aix-Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France.

Objective: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB).

Study Design: A retrospective study in three tertiary referral centers including fetal echogenic bowel over a 10-year period (from January 2003 to December 2013). The echogenicity of the fetal bowel was graded from 1 to 3, according to Slotnick's definition. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2017.01.060DOI Listing
May 2017
36 Reads

First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.

Cochrane Database Syst Rev 2017 Mar 15;3:CD012600. Epub 2017 Mar 15.

Department of Women's and Children's Health, The University of Liverpool, First Floor, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK, L8 7SS.

Background: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromosome 21 implicated in causing Down's syndrome. It is the commonest congenital cause of mental disability and also leads to numerous metabolic and structural problems. It can be life-threatening, or lead to considerable ill health, although some individuals have only mild problems and can lead relatively normal lives. Read More

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http://dx.doi.org/10.1002/14651858.CD012600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6464518PMC
March 2017
63 Reads

[Acute Kidney Failure Due to Urachal Cyst?]

Z Geburtshilfe Neonatol 2017 Apr 9;221(2):88-91. Epub 2017 Mar 9.

Division of Neonatology and Pediatric Intensive Care Medicine, University Medical Centre Hamburg-Eppendorf, Hamburg.

A 34-year-old para V woman was referred to our centre at 35+1 weeks of gestation for an assumed fetal malformation with prenatal renal impairment and anhydramnios. Prenatal ultrasound demonstrated unilateral renal agenesis; the bladder was not detectable. The baby was born by caesarian section at 36+2 weeks of gestation because of placental insufficiency. Read More

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http://dx.doi.org/10.1055/s-0042-111397DOI Listing
April 2017
36 Reads
0.460 Impact Factor

Incidence of an Aberrant Right Subclavian Artery on Second-Trimester Sonography in an Unselected Population.

J Ultrasound Med 2017 May 4;36(5):1015-1019. Epub 2017 Mar 4.

Department of Obstetrics and Gynecology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

Objectives: The aim of this study was to assess the incidence of an aberrant right subclavian artery (ARSA) among an unselected population during second-trimester sonography and to review the importance of this conotruncal variant as a marker of Down syndrome.

Methods: The presence or absence of an ARSA was assessed in an unselected population of 1913 second-trimester fetuses.

Results: Among the 1913 patients, an ARSA was detected in 20 fetuses (1. Read More

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http://dx.doi.org/10.7863/ultra.16.05075DOI Listing
May 2017
33 Reads

Meta-analysis of validity of echogenic intracardiac foci for calculating the risk of Down syndrome in the second trimester of pregnancy.

Taiwan J Obstet Gynecol 2017 Feb;56(1):16-22

Obstetrics and Gynaecology Department, Hospital La Mancha Centro, Alcázar de San Juan, Ciudad Real, Spain.

Echogenic intracardiac foci are a second trimester marker associated with aneuploidy in high-risk populations. The objective of this study is to assess the validity of echogenic intracardiac foci for Down syndrome detection in the second trimester ultrasound scan. A systematic search in major bibliographic databases was carried out (MEDLINE, EMBASE, CINAHL). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10284559163022
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http://dx.doi.org/10.1016/j.tjog.2016.11.002DOI Listing
February 2017
16 Reads

Coronary Artery Fistula in Down Syndrome: A Hidden Association.

J Ultrasound Med 2017 06 27;36(6):1282-1283. Epub 2017 Feb 27.

Neonatal Intensive Care Unit, AOUP, Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.

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http://dx.doi.org/10.7863/ultra.16.08019DOI Listing
June 2017
4 Reads