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Prenatal Testing

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44 papers 25 to 100 followers Prenatal Screening and Testing
By Victoria Miller Trisomy 18 Foundation
Marcin Wiechec, Anna Knafel, Agnieszka Nocun, Artur Ludwin, Inga Ludwin, Marek Maczka, Damian Zietek, Marcin Pasternok, Dietmar Moosburger, Sebastian Zalewski, Wioletta Rozmus-Warcholinska
OBJECTIVES: To compare the screening performances of combined screening test risk algorithm for trisomy 18 (T18) using various cutoffs with a multiparameter ultrasound-based method. To compare the general and maternal age (MA)-based screening performances for T18 by means of combined screening and an ultrasound-based method. METHODS: This was a prospective, multicenter study based on a mixed-risk non-selected population of women referred to referral centers for a first-trimester screening...
September 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
March 28, 2016: Pediatric and Developmental Pathology
X H Tang, B C Yang, S Zhu, J Su, J M Zhang, Y F Yin, Y Feng, D M Li, Q F Zhao, R Yu, B S Zhu
OBJECTIVE: To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. METHODS: From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis...
May 25, 2016: Zhonghua Fu Chan Ke za Zhi
Yuning Zhu, Shiming Lu, Xuming Bian, He Wang, Baosheng Zhu, Hua Wang, Zhengfeng Xu, Liangpu Xu, Weihua Yan, Yan Zeng, Zhiyang Chen, Shaohua Tang, Guosong Shen, Zhengyou Miao
OBJECTIVE: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate prenatal screening and diagnostic technologies. MATERIALS AND METHODS: Second trimester amniocentesis and fetal karyotype results of 46,258 women were retrospectively reviewed. All women were ≥ 35 years old with singleton pregnancies...
June 2016: Taiwanese Journal of Obstetrics & Gynecology
Lean Beulen, Brigitte H W Faas, Ilse Feenstra, John M G van Vugt, Mireille N Bekker
OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high risk for fetal chromosomal abnormalities based on ultrasonographic examination, where NIPT was performed as first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome as well as partial autosomal aneuploidies, as currently in the Dutch laboratories, sex chromosomes are not analysed...
August 12, 2016: Ultrasound in Obstetrics & Gynecology
Marta Santorum, David Wright, Argyro Syngelaki, Natalia Karagioti, Kypros H Nicolaides
OBJECTIVE: To examine the diagnostic accuracy of a previously developed model for the first-trimester combined test in screening for trisomies 21, 18 and 13. METHODS: This was a prospective validation study of screening for trisomies 21, 18 and 13 by a combination of maternal age, fetal nuchal translucency, fetal heart rate and serum free ß-hCG and PAPP-A at 11(+0) -13(+6) weeks' gestation in 108,982 singleton pregnancies undergoing routine care in three maternity hospitals...
August 23, 2016: Ultrasound in Obstetrics & Gynecology
Harald Abele, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Markus Hoopmann, Karl Oliver Kagan
OBJECTIVE: To examine the spheno-frontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare it with euploid population. METHODS: First, we searched the database for pregnancies with the diagnosis of trisomy 21, 18, 13, triploidy or Turner syndrome after 15 weeks' gestation. Whenever possible, we selected images that were obtained between 19 and 22 weeks. For the normal population, we randomly selected two euploid fetuses for each aneuploid case and matched them for gestational age...
August 23, 2016: Ultrasound in Obstetrics & Gynecology
Basil M Kahwash, Nicholas B Nowacki, Samir B Kahwash
We discuss the significance of neutrophils with increased, aberrant nuclear projections mimicking "barbed-wire" in a newborn child with trisomy 18 (T18). Increased, aberrant nuclear projections have been previously reported in trisomy of the D group of chromosomes (chromosomes 13, 14, and 15), and we report similar findings in a patient with T18. The peripheral blood smear showed relative neutrophilia with the majority (37%) of neutrophils showing two or more thin, rod-shaped or spike-shaped, and often pedunculated aberrant nuclear projections...
2015: Case Reports in Hematology
Kristy Crooks, Ginger Edwardsen, Siobhan O'Connor, Cynthia Powell, Diane Vargo, Neeta Vora, Kathleen Kaiser-Rogers
NIPT (noninvasive prenatal testing) detected trisomy for two chromosomes. One trisomy reflected the fetal karyotype, and the other resulted from CPM (confined placental mosaicism). This case illustrates that extensive cytogenetic analysis can be required to identify CPM, and that patients should be counseled regarding the possibility of discordant NIPT results.
January 2016: Clinical Case Reports
Brandace Winquist, Nazeem Muhajarine, Keith Ogle, Debbie Mpofu, Denis Lehotay, Gary Teare
OBJECTIVES: The objectives of the study were to assess differences in utilization of maternal serum screening (MSS) and prenatal diagnostic testing between population subgroups and to determine the impact on chromosomal anomaly birth rates. METHODS: This population-based cohort study included all female residents from Saskatchewan, Canada, who delivered a baby, experienced a fetal loss, or had a pregnancy termination between 2000 and 2005. In total, 93 171 women were included in the study dataset, with a subset (n = 35 527) evaluated to identify predictors of screening and diagnostic testing...
September 2016: Prenatal Diagnosis
Dayna L Nevay, Catriona Hippman, Angela Inglis, Arianne Albert, Jehannine Austin
INTRODUCTION: Our goal was to prospectively compare the trajectories of depression symptoms through pregnancy and postpartum between women who received normal prenatal screening results and those whose results indicated an increased risk for fetal aneuploidy. MATERIAL AND METHODS: Women completed the Edinburgh Postnatal Depression Scale (EPDS) at 4-week intervals between <26 weeks' gestation and 3 months postpartum. We categorized women into four groups: (i) negative serum screening and ultrasound results (SS(-) /US(-) , n = 103), (ii) positive serum screening/negative ultrasound results (SS(+) /US(-) , n = 42), (iii) negative serum screening/positive ultrasound results (SS(-) /US(+) , n = 19), or (iv) positive serum screening and ultrasound results (SS(+) /US(+) , n = 13), and compared EPDS scores between groups using Poisson regression...
October 2016: Acta Obstetricia et Gynecologica Scandinavica
Anthony R Gregg, Brian G Skotko, Judith L Benkendorf, Kristin G Monaghan, Komal Bajaj, Robert G Best, Susan Klugman, Michael S Watson
This statement is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
October 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Francesca M Russo, Elisa Pozzi, Maria Verderio, Davide P Bernasconi, Valentina Giardini, Carla Colombo, Silvia Maitz, Patrizia Vergani
Data on the outcome of trisomy T18 (T18) when diagnosed during pregnancy are lacking. We performed a retrospective study of pregnancies complicated by T18 diagnosed at our center and a literature search for publications on the topic, with pooled estimates of survival rates at different gestational and post-natal ages. In our series, all the 60 patients included in the analysis had prenatally detected ultrasound anomalies, which were evidenced in the first trimester or at the second trimester scan in 73% of cases...
February 2016: American Journal of Medical Genetics. Part A
C Gezer, A Ekin, N S Gezer, I E Ertas, M E Avci, I Uyar, S Ciftci, C E Taner
PURPOSE: Subcutaneous edema detected sonographically in the forms of nuchal edema, cystic hygroma (CH), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities. The aim of this study was to investigate the chromosome abnormality incidence in fetuses with nuchal edema, CH, or NIH. MATERIALS AND METHODS: The authors performed cytogenetic analysis of 218 singleton fetuses with ultrasound diagnosis of subcutaneous edema in the forms of nuchal edema in the first and second trimesters...
2015: Clinical and Experimental Obstetrics & Gynecology
Annika Achter, Thomas Hager, Rolf Fimmers, Ulrich Gembruch, Annette M Müller
INTRODUCTION: For ultrasonographic diagnosis of a fetal trisomy so-called "soft markers" (=ultrasonographically detectable morphological variants) are used. Detection of a certain number of them increases the diagnostic certainty of a fetal trisomy. Up to now there are very few diagnostically accepted osseous soft markers for trisomy. Hence potential osseous soft markers applicable for first and second trimester ultrasound screening for trisomy 21, 18 or 13 were studied. METHODS: Postmortal fetal X-rays (ap, lateral) of 358 fetuses (trisomy 21: n = 109, trisomy 18: n = 46; trisomy 13: n = 38, control group: n = 165)...
August 2016: Archives of Gynecology and Obstetrics
Peter Benn
Noninvasive prenatal screening (NIPS) for fetal chromosome defects has high sensitivity and specificity but is not fully diagnostic. In response to a desire to provide more information to individual women with positive NIPS results, 2 online calculators have been developed to calculate posttest risk (PTR). Use of these calculators is critically reviewed. There is a mathematically dictated requirement for a precise estimate for the specificity to provide an accurate PTR. This is illustrated by showing that a 0...
June 2016: American Journal of Obstetrics and Gynecology
Rosa A Pardo Vargas, Mariana Aracena, Teresa Aravena, Carolina Cares, Fanny Cortés, Víctor Faundes, Cecilia Mellado, Cristóbal Passalacqua, Patricia Sanz, Silvia Castillo Taucher
INTRODUCTION: The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. METHODOLOGY: Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it...
May 24, 2016: Revista Chilena de Pediatría
Katherine Bianco, Matthew Gormley, Jason Farrell, Yan Zhou, Oliver Oliverio, Hannah Tilden, Michael McMaster, Susan J Fisher
OBJECTIVE: Chromosomal aberrations are frequently associated with birth defects and pregnancy losses. Trisomy 13, Trisomy 18 and Trisomy 21 are the most common, clinically relevant fetal aneusomies. This study used a transcriptomics approach to identify the molecular signatures at the maternal-fetal interface in each aneuploidy. METHODS: We profiled placental gene expression (13-22 weeks) in T13 (n = 4), T18 (n = 4) and T21 (n = 8), and in euploid pregnancies (n = 4)...
September 2016: Prenatal Diagnosis
Stephanie G Valderramos, Rashmi R Rao, Emily W Scibetta, Neil S Silverman, Christina S Han, Lawrence D Platt
BACKGROUND: Since its commercial release in 2011 cell-free DNA screening has been rapidly adopted as a routine prenatal genetic test. However, little is known about its performance in actual clinical practice. OBJECTIVE: We sought to investigate factors associated with the accuracy of abnormal autosomal cell-free DNA results. STUDY DESIGN: We conducted a retrospective cohort study of 121 patients with abnormal cell-free DNA results from a referral maternal-fetal medicine practice from March 2013 through July 2015...
June 28, 2016: American Journal of Obstetrics and Gynecology
Lotte Hatt, Mads M Aagaard, Cathrine Bach, Jesper Graakjaer, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen
Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape in placenta DNA from trisomy 13, 18 and 21 pregnancies in an attempt to find trisomy-specific methylation differences better suited for non-invasive prenatal diagnosis. We have conducted high-resolution methylation specific bead chip microarray analyses assessing more than 450,000 CpGs analyzing placentas from 12 T21 pregnancies, 12 T18 pregnancies and 6 T13 pregnancies...
2016: PloS One
2016-08-07 14:21:57
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