1,238 results match your criteria Prenatal Imaging Findings in Down Syndrome


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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000013094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250448PMC
November 2018
9 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2018/1646035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198582PMC
January 2019
7 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tjog.2018.06.014DOI Listing
August 2018
1 Read

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000234DOI Listing
October 2018
4 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.05.016DOI Listing
September 2018
1 Read

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5248DOI Listing
May 2018
16 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/uog.19035DOI Listing
November 2018
2 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aogs.13263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814939PMC
February 2018
9 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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10284559173021
Publisher Site
http://dx.doi.org/10.1016/j.tjog.2017.08.027DOI Listing
October 2017
6 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/uog.18915DOI Listing
April 2018
6 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/mmr.2017.7548DOI Listing
November 2017
11 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

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s11019-017-9786-x
Publisher Site
http://dx.doi.org/10.1007/s11019-017-9786-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814550PMC
March 2018
2 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/uog.17545DOI Listing

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.5065
Publisher Site
http://dx.doi.org/10.1002/pd.5065DOI Listing
July 2017
12 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jogc.2017.03.100DOI Listing
October 2017
4 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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejogrb.2017.02.008DOI Listing

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

View Article

Download full-text PDF

Source
January 2017
12 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejogrb.2017.01.060DOI Listing
May 2017
19 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/14651858.CD012600DOI Listing
March 2017
27 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0042-111397DOI Listing
April 2017
12 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/ultra.16.05075DOI Listing
May 2017
7 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

View Article

Download full-text PDF

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

Cut-off value of nuchal translucency as indication for chromosomal microarray analysis.

Ultrasound Obstet Gynecol 2017 Sep 26;50(3):332-335. Epub 2017 Jul 26.

The Genetics Institute, Meir Medical Center, Kfar Saba, Israel.

Objectives: An association between isolated, increased nuchal translucency thickness (NT) and pathogenic findings on chromosomal microarray analysis (CMA) has been reported. A recent meta-analysis reported that most studies use a NT cut-off value of 3.5 mm. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/uog.17421DOI Listing
September 2017

Aberrant Right Subclavian Artery: Correlation Between Fetal and Neonatal Abnormalities and Abnormal Genetic Screening or Testing.

J Ultrasound Med 2017 Apr 10;36(4):785-790. Epub 2017 Jan 10.

Department of Obstetrics and Gynecology, University Hospitals Leuven, Leuven, Belgium.

Objectives: To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion.

Methods: We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7863/ultra.16.05028DOI Listing
April 2017
5 Reads

Nasal bone in screening for T21 at 11-13 + 6 weeks of gestation - a multicenter study.

Ginekol Pol 2016 ;87(11):751-754

Department of Obstetrics and Perinatology, Medical University of Warsaw, Poland.

Objectives: Trisomy 21 is one of the most common chromosomal defects diagnosed prenatally. Screening for Down syndrome is based on maternal age, measurement of crown-rump length, nuchal translucency and fetal heart rate, together with free β-hCG and PAPP-A at 11 to 13 + 6 weeks. Introduction of additional ultrasound marker of trisomy 21 (evaluation of the nasal bone) may result in increased DR and decreased invasive diagnostic testing rates (FPR). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5603/GP.2016.0082DOI Listing
July 2018
15 Reads

The association between prenatal atrioventricular septal defects and chromosomal abnormalities.

Eur J Obstet Gynecol Reprod Biol 2017 Jan 29;208:31-35. Epub 2016 Oct 29.

Fetal Medicine Unit, Academic Department of Obstetrics and Gynaecology, St George's University of London, London, United Kingdom; Royal Brompton Hospital, London, United Kingdom.

Objective: Atrioventricular septal defect is associated with a high risk of a chromosomal abnormality, particularly trisomy 21. The aim of this study is to assess the rate of trisomy 21 in fetuses diagnosed with an atrioventricular septal defect and to examine the influence of prior screening on the rate of trisomy 21.

Methods: Electronic ultrasound database was searched to identify fetuses diagnoses with an atrioventricular septal defect from 2002 to 2014. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejogrb.2016.10.039DOI Listing
January 2017
7 Reads

Prenasal Thickness, Prefrontal Space Ratio and Other Facial Profile Markers in First-Trimester Fetuses with Aneuploidies, Cleft Palate, and Micrognathia.

Fetal Diagn Ther 2018 18;43(3):231-240. Epub 2016 Nov 18.

Department of Obstetrics and Gynecology, Fetal Medicine Unit, University Medical Centre, Groningen, The Netherlands.

Objective: To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses.

Methods: All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/449099
Publisher Site
http://dx.doi.org/10.1159/000449099DOI Listing
September 2018
20 Reads

Prenatal sonographic diagnosis of urorectal septum malformation sequence and chromosomal microarray analysis: A case report and review of the literature.

Medicine (Baltimore) 2016 Nov;95(45):e5326

aDepartment of Ultrasound bDepartment of Obstetrics cDepartment of Pathology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.

Introduction: Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. Read More

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00005792-201611080-0001
Publisher Site
http://dx.doi.org/10.1097/MD.0000000000005326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106059PMC
November 2016
6 Reads

Normal Range of Fetal Nasal Bone Length during the Second Trimester in an Afro-Caribbean Population and Likelihood Ratio for Trisomy 21 of Absent or Hypoplastic Nasal Bone.

Fetal Diagn Ther 2017 21;42(2):130-136. Epub 2016 Oct 21.

Multidisciplinary Center of Prenatal Diagnosis of Martinique, University Hospital of Martinique, Fort de France, France.

Objective: To establish the normal reference range of fetal nasal bone length (NBL) during the second trimester in an Afro-Caribbean population and the likelihood ratio (LR) for fetal trisomy 21.

Methods: Prenatal records of euploid, non-malformed singleton fetuses who underwent second-trimester ultrasonographic scans at 20-24 weeks of gestation were retrospectively analyzed for NBL and gestational age (GA). Only Afro-Caribbean couples were selected. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000450996DOI Listing
May 2018
21 Reads

Hemodynamic assessment of hydrops foetalis secondary to transient myeloproliferative disorder associated with foetal Down syndrome: A case report and literature review.

J Obstet Gynaecol 2016 Oct 9;36(7):861-864. Epub 2016 Sep 9.

a Maternal-Fetal-Medicine Unit, Department of Obstetrics and Gynecology , Faculty of Medicine Chiang Mai University , Chiang Mai , Thailand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/01443615.2016.1174833DOI Listing
October 2016

Sphenofrontal distance in euploid and aneuploid fetuses.

Ultrasound Obstet Gynecol 2017 Aug 9;50(2):187-191. Epub 2017 Jul 9.

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

Objective: To examine the sphenofrontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare findings with those of a euploid population.

Methods: The database at our unit was searched to identify pregnancies with a diagnosis of trisomy 21, 18 or 13, triploidy or Turner syndrome after 15 weeks' gestation. Stored ultrasound images obtained between 19 and 22 weeks were reviewed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/uog.17284DOI Listing
August 2017
1 Read

Herman score in prenatal screening for Down syndrome: Can a junior assess a senior?

Diagn Interv Imaging 2017 Feb 8;98(2):155-160. Epub 2016 Jul 8.

Prenatal Diagnosis Centre, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille, France; Department of Pediatric and Prenatal Imaging, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille, France.

Purpose: To compare Herman scores self-assessed prospectively during ultrasound first-trimester screening by a single senior radiologist with 15 years of experience, to those obtained retrospectively by an unexperienced junior radiologist.

Materials And Methods: Over a 18-month period, a single senior radiologist measured the nuchal translucency thickness along with calculation of Herman scores. An independent junior radiologist subsequently reviewed and scored the images. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.diii.2016.03.015DOI Listing
February 2017
4 Reads

Late onset of large benign ductus arteriosus aneurysm presented with increased nuchal translucency and cystic hygroma at first trimester Down syndrome screening.

Taiwan J Obstet Gynecol 2016 Jun;55(3):427-9

Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

Objective: Fetal ductus arteriosus aneurysm (DAA) is a rare but potentially risky congenital heart disease. It is often not diagnosed until the third trimester because of its asymptomatic nature and late onset. In rare occasions, DAA may result in serious complications; therefore, prenatal diagnosis is helpful. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tjog.2016.04.020DOI Listing
June 2016
8 Reads

[Prenatal diagnosis of Meckel-Gruber syndrome. Case report and literature review].

Ginecol Obstet Mex 2016 Feb;84(2):105-11

Background: Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in mental retardation, bilateral renal cystic dysplasia and malformations of hands and feet. To date there have been only about 200 cases reported worldwide. It is a disease with a recurrence rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. Read More

View Article

Download full-text PDF

Source
February 2016
9 Reads

Role of collagen type IV in the pathogenesis of increased prenasal thickness in Down syndrome fetuses: sonographic and immunohistological findings.

J Perinat Med 2017 Feb;45(2):213-218

Objective: The present study aims to compare the presence and localization of collagen type IV in the prenasal tissue of fetuses with and without Down syndrome (DS).

Methods: Products of conception were obtained from mid-gestation uterine evacuations of 14 DS fetuses and 15 unaffected controls. Microdissection of the prenasal area and an analysis of the prenasal tissue specimens were performed by a single pathologist, blinded to the karyotype results. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpm-2015-0419DOI Listing
February 2017
7 Reads

Thoracoamniotic Shunting for Fetal Hydrothorax: Predictors of Intrauterine Course and Postnatal Outcome.

Fetal Diagn Ther 2017 13;41(1):58-65. Epub 2016 May 13.

Division of Fetal Surgery, Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

Objective: To assess predictors for survival and complications among a relatively large cohort of fetuses with hydrothorax treated by thoracoamniotic shunting.

Methods: All cases with hydrothorax treated by thoracoamniotic shunting in a 10-year period (2002-2011) in two centers were retrospectively reviewed.

Results: A total of 78 fetuses with hydrothorax treated with thoracoamniotic shunting were included in the study. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/446110
Publisher Site
http://dx.doi.org/10.1159/000446110DOI Listing
February 2017
29 Reads

Monozygotic Monochorionic Twins Discordant for Trisomy 21: A Reason to Evaluate Both Fetuses: A Case Report.

J Reprod Med 2016 Mar-Apr;61(3-4):167-70

Background: The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition.

Case: We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocentesis was normal for both twins. Read More

View Article

Download full-text PDF

Source
May 2016
9 Reads

Practice Bulletin No. 162 Summary: Prenatal Diagnostic Testing for Genetic Disorders.

Authors:

Obstet Gynecol 2016 May;127(5):976-8

Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/AOG.0000000000001438DOI Listing
May 2016
7 Reads

Copy number variation sequencing-based prenatal diagnosis using cell-free fetal DNA in amniotic fluid.

Prenat Diagn 2016 Jun 17;36(6):576-83. Epub 2016 May 17.

Berry Genomics Co., Ltd, Beijing, China.

Objective: The study aimed to determine whether cell-free fetal DNA (cffDNA) present in amniotic fluid supernatant can be used as a surrogate for amniocyte-based diagnosis of fetal chromosomal abnormalities.

Method: Amniocentesis was performed on 28 high-risk pregnancies. Amniocytes and the cffDNA fraction were prepared from the amniotic fluid samples. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4830DOI Listing
June 2016
11 Reads
2.514 Impact Factor

Absence of an anatomical origin for altered ductus venosus flow velocity waveforms in first-trimester human fetuses with increased nuchal translucency.

Prenat Diagn 2016 Jun 10;36(6):537-44. Epub 2016 May 10.

Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands.

Objective: To perform a morphological evaluation of the ductus venosus, heart and jugular lymphatic sac (JLS) in first-trimester human fetuses with normal and abnormal ductus venosus flow velocity waveforms (DV-FVWs) and normal and increased nuchal translucency (NT).

Method: Postmortem examination was performed on fetuses with increased NT or structural malformations with previous NT and DV-FVW measurements. Ductus venosus morphology was examined using markers for endothelium, smooth muscle actin (SMA), nerves and elastic fibers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4820DOI Listing
June 2016
14 Reads

Combined screening test for trisomy 21 - is it as efficient as we believe?

J Perinat Med 2017 Feb;45(2):185-191

Objectives: To compare two first-trimester screening strategies: traditional combined screening and the one based on ultrasound markers only. We investigated the effect of maternal age (MA) on the screening performance of both of these strategies.

Methods: This was a prospective observational study based on a non-selected mixed-risk population of 11,653 women referred for first-trimester screening. Read More

View Article

Download full-text PDF

Source
https://www.degruyter.com/dg/journalprintahead.articlelist.r
Web Search
http://www.degruyter.com/view/j/jpme.ahead-of-print/jpm-2016
Publisher Site
http://dx.doi.org/10.1515/jpm-2016-0031DOI Listing
February 2017
7 Reads

Ultrasonography estimates of fetal growth in fetuses affected by trisomy 21.

Int J Gynaecol Obstet 2016 Jun 24;133(3):287-90. Epub 2016 Feb 24.

Department of Obstetrics, Gynecology and Reproductive Science, Magee-Women's Hospital of the University of Pittsburgh, Pittsburgh, PA, USA.

Objective: To construct growth curves specific for fetuses with trisomy 21 (T21) and to compare them with the reference-based standard.

Methods: A retrospective cohort study was conducted of ultrasonography examinations from women with singleton pregnancies with a confirmed diagnosis of T21 who sought care at an academic tertiary-care center in the USA between January 1, 2003, and December 31, 2013. Growth curves were constructed using linear regression and compared with the Hadlock standard. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijgo.2015.09.034DOI Listing
June 2016
2 Reads

Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.

Authors:

Obstet Gynecol 2016 05;127(5):e108-22

Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/AOG.0000000000001405DOI Listing
May 2016
33 Reads

First trimester cystic hygroma: does early detection matter?

Prenat Diagn 2016 May 21;36(5):432-6. Epub 2016 Mar 21.

Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA.

Objective: To describe the association of abnormal outcomes with fetal cystic hygroma detected when crown-rump length measures less than 45 mm, and to compare them to outcomes among fetuses with cystic hygroma detected when crown-rump length measures 45-84 mm.

Methods: We performed a retrospective cohort study of fetuses with first trimester nuchal cystic hygroma from 2005 to 2015.

Results: A total of 212 fetuses were included. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4799DOI Listing
May 2016
12 Reads

Sphenofrontal distance on three-dimensional ultrasound in euploid and trisomy-21 fetuses at 16-24 weeks' gestation.

Ultrasound Obstet Gynecol 2016 Aug 19;48(2):177-80. Epub 2016 Jun 19.

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.

Objective: To compare the distance between the sphenoid and frontal bones on three-dimensional (3D) ultrasound in euploid and trisomy-21 fetuses at 16-24 weeks' gestation.

Methods: We acquired 3D volumes of the fetal profile from 80 normal and 30 trisomy-21 fetuses at 16-24 weeks' gestation. We used the multiplanar mode to obtain the mid-sagittal plane and measured the sphenofrontal distance as the shortest distance between the most anterior edge of the sphenoid bone and the lowest edge of the frontal bone. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/uog.15897DOI Listing
August 2016
1 Read

Coexistence of congenital diaphragmatic hernia and abdominal wall closure defect with chromosomal abnormality: two case reports.

J Med Case Rep 2016 Jan 22;10:19. Epub 2016 Jan 22.

Department of Neonatology, Center for Maternal, Fetal and Neonatal Medicine, Saitama Medical Center, Saitama Medical University, Kamoda 1981, Kawagoe, Saitama, 3508550, Japan.

Background: We reported two rare cases of congenital diaphragmatic hernia with abdominal wall closure defect, which were not associated with septum transversum diaphragmatic defects or Fryns syndrome.

Case Presentation: Case 1: a Japanese baby boy was delivered at 37 weeks' gestation by urgent cesarean section because of the diagnosis of severe fetal distress. Congenital diaphragmatic hernia with omphalocele was prenatally diagnosed with fetal ultrasound. Read More

View Article

Download full-text PDF

Source
http://www.jmedicalcasereports.com/content/pdf/s13256-016-08
Web Search
http://link.springer.com/content/pdf/10.1186%2Fs13256-016-08
Web Search
http://www.jmedicalcasereports.com/content/10/1/19
Publisher Site
http://dx.doi.org/10.1186/s13256-016-0805-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724109PMC
January 2016
5 Reads

Nuchal translucency and posterior fossa examination.

Authors:
R Chaoui E-G Simon

Gynecol Obstet Fertil 2016 Jan 11;44(1):1-2. Epub 2016 Jan 11.

Service de gynécologie-obstétrique et médecine fœtale, CHRU de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France; UMR Inserm U930, université François-Rabelais de Tours, 2, boulevard Tonnellé, 37044 Tours cedex 9, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gyobfe.2015.11.014DOI Listing
January 2016
1 Read

Ultrasound screening: Status of markers and efficacy of screening for structural abnormalities.

Semin Perinatol 2016 Feb 8;40(1):67-78. Epub 2016 Jan 8.

The Center for Fetal Medicine and Women's Ultrasound, Los Angeles, CA.

Aneuploidy is a major cause of perinatal morbidity and mortality and can have a significant impact on expecting parents and their families. With early screening and diagnosis it is important to be able to educate parents regarding the potential impact of the diagnosis. This knowledge allows parents the opportunity to consider management options early in the pregnancy, permitting more time to mentally and emotionally prepare both for the course of the pregnancy, and after the birth of the child should the pregnancy continue. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.semperi.2015.11.009DOI Listing
February 2016
8 Reads

Fetal Persistent Left Superior Vena Cava with Trisomy 21: A Case Report and Literature Review.

Pediatr Neonatol 2016 06 19;57(3):252-5. Epub 2015 Nov 19.

Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu 610041, China. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pedneo.2015.10.002DOI Listing
June 2016
8 Reads

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.

Am J Med Genet A 2016 Mar 21;170(3):676-87. Epub 2015 Dec 21.

Unit of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

Autosomal aneuploidies associate with multiple minor skeletal defects, which, in fetuses, are best appreciated post-mortem after specific anatomic preparations. The present study was aimed to define patterns of skeletal anomalies in autosomal aneuploidies at standard radiology in second trimester fetuses by comparing findings in and among genotypes and gestational ages. Aneuploid fetuses were selected for availability of radiographs of various axial and non-axial structures, mainly homeotic transformations, vertebral clefts, vertebral segmentation and ossification defects, absent/hypoplastic nasal bone, premature talar calcifications, and selected appendicular anomalies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37510DOI Listing
March 2016
24 Reads