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"Trisomy 13"

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https://www.readbyqxmd.com/read/29573438/clinical-application-of-chromosomal-microarray-analysis-for-the-prenatal-diagnosis-of-chromosomal-abnormalities-and-copy-number-variations-in-fetuses-with-congenital-heart-disease
#1
Yu Xia, Yongchao Yang, Shufang Huang, Yueheng Wu, Ping Li, Jian Zhuang
OBJECTIVES: This study aimed to determine chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD) by chromosomal microarray analysis (CMA). METHODS: One hundred ten cases with CHD detected by prenatal echocardiography were enrolled in the study; 27 cases were simple CHDs and 83 were complex CHDs. CMA was performed on the Affymetrix CytoScan HD platform. All annotated CNVs were validated by qPCR. RESULTS: CMA identified 6 cases with chromosomal abnormalities, including 2 cases with trisomy 21, 2 cases with trisomy 18, 1 case with trisomy 13, and 1 unusual case of mosaic trisomy 21...
March 24, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29553099/chromosomal-karyotype-in-chorionic-villi-of-recurrent-spontaneous-abortion-patients
#2
Yan Du, Lanting Chen, Jing Lin, Jun Zhu, Na Zhang, Xuemin Qiu, Dajin Li, Ling Wang
Recurrent spontaneous abortion (RSA) is a multifactorial disease of which the exact causes are still unknown. In the current study, we aimed to analyze the distribution of abnormal embryonic karyotypes in RSA. 781 RSA patients of 17 hospitals in Shanghai from January 2014 to September 2016 were enrolled. Fetal villus tissues were collected during uterine curettage and then cultured in situ for karyotyping. All of the 781 cases were successfully cultured. There were 393 cases of abnormal karyotypes, accounting for 50...
2018: Bioscience Trends
https://www.readbyqxmd.com/read/29507621/non-invasive-prenatal-diagnosis-of-chromosomal-aneuploidies-and-microdeletion-syndrome-using-fetal-nucleated-red-blood-cells-isolated-by-nanostructure-microchips
#3
Chun Feng, Zhaobo He, Bo Cai, Jianhong Peng, Jieping Song, Xuechen Yu, Yue Sun, Jing Yuan, Xingzhong Zhao, Yuanzhen Zhang
Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral blood may serve as a prospective testing method competing with the cell-free DNA, in non-invasive prenatal testing (NIPT). Methods: Herein, we introduce a facile and effective lab-on-a-chip method of fNRBCs detection using a capture-releasing material that is composed of biotin-doped polypyrrole nanoparticles. To enhance local topographic interactions between the nano-components and fNRBC, a specific antibody, CD147, coated on the nanostructured substrate led to the isolation of fNRBCs from maternal peripheral blood...
2018: Theranostics
https://www.readbyqxmd.com/read/29501064/adenocarcinoma-and-polyposis-of-the-colon-in-a-20-year-old-patient-with-trisomy-13-a-case-report
#4
Danielle P Thurtle, Michael B Huck, Kristen A Zeller, Tamison Jewett
BACKGROUND: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age. CASE PRESENTATION: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon...
March 4, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29463940/slow-fetal-heart-rate-before-miscarriage-in-the-early-first-trimester-predicts-fetal-aneuploidy-in-women-with-recurrent-pregnancy-loss
#5
Ai Sakamoto, Yasuhiko Kamada, Kotaro Kubo, Toru Hasegawa, Sayoko Kotani, Mikiya Nakatsuka, Yuji Hiramatsu
Establishing whether miscarriages result from fetal aneuploidy or other factors is important for treating recurrent pregnancy loss. We examined the relationship between fetal heart rate (FHR) before miscarriage in the early first trimester and fetal karyotype, analyzing 223 pregnant women with recurrent pregnancy loss. Among the pregnancies, 110 resulted in live births regarded as normal karyotype (the Norm-group). The other 113 pregnancies ended in miscarriage, and we categorized them into groups based on fetal karyotype, determined by chorionic villus sampling: the Misc-NK (normal karyotype) group, n=35 euploid cases; the Misc-CA1 (chromosomal abnormality) group, n=18 cases of aneuploidy with trisomies 13/18/21, Turner's syndrome, or Klinefelter's syndrome; and the Misc-CA2 subgroup, n=60 cases of other aneuploidies excluding those in the Misc-CA1 group...
February 2018: Acta Medica Okayama
https://www.readbyqxmd.com/read/29458877/1p-deletion-syndrome-a-prenatal-diagnosis-characterized-by-an-abnormal-1st-trimester-combined-screening-test-yet-a-normal-nipt-result
#6
Chung-Yuan Yang, Chuan-Chi Kao, Shuenn-Dyn Chang, Shih-Yin Huang
OBJECTIVE: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. CASE REPORT: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. The final conventional cytogenetics revealed a karyotype of 46, XX, del(1)(p36)...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29419860/-performance-of-prenatal-screening-by-non-invasive-cell-free-fetal-dna-testing-for-women-with-various-indications
#7
Bin Zhang, Lingyan Pan, Huiyan Wang, Jianbing Liu, Beiyi Lu, Yingping Chen, Wei Long, Bin Yu
OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29340812/partial-amniotic-carbon-dioxide-insufflation-paci-during-minimally-invasive-fetoscopic-interventions-on-fetuses-with-spina-bifida-aperta
#8
Miriam Ziemann, Rolf Fimmers, Anastasiia Khaleeva, Rainer Schürg, Markus A Weigand, Thomas Kohl
BACKGROUND: Percutaneous partial amniotic carbon dioxide insufflation (PACI) is one of the most important means for improving visualization during minimally invasive fetoscopic surgery of fetal spina bifida. The purpose of the present study was to analyze maternal and fetal safety aspects of PACI in a recent patient cohort and to present management improvements. METHODS: PACI under general materno-fetal anesthesia was performed during 65 interventions for fetoscopic patch coverage of fetal spina bifida aperta between 21 + 0 and 29 + 1 weeks of gestation...
January 16, 2018: Surgical Endoscopy
https://www.readbyqxmd.com/read/29340729/pulmonary-valve-morphology-in-patients-with-bicuspid-aortic-valves
#9
Wilke M C Koenraadt, Margot M Bartelings, Adriana C Gittenberger-de Groot, Regina Bökenkamp, Marco C DeRuiter, Martin J Schalij, Monique R M Jongbloed
The aortic and pulmonary valve share a common developmental origin from the embryonic arterial trunk. Bicuspid aortic valve is the most common congenital anomaly and can occur isolated as well as in association with other congenital heart disease (CHD). Data on pulmonary valve morphology in these cases are scarce. In this study, we aimed to determine pulmonary valve morphology in hearts with BAV associated with CHD. In 83 post-mortem heart specimens with BAV and associated CHD, pulmonary valve morphology was studied and related to BAV morphology...
April 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29338474/subarachnoid-space-diameter-in-chromosomally-abnormal-fetuses-at-11-13-weeks-gestation
#10
Carolina Ferreira, Ana Lidia Rouxinol-Dias, Teresa Loureiro, Kypros Nicolaides
OBJECTIVES: To examine the subarachnoid space diameters in chromosomally abnormal fetuses at 11-13 weeks' gestation. METHODS: Stored three-dimensional (3D) ultrasound volumes of the fetal head at 11-13 weeks' gestation from 407 euploid and 88 chromosomally abnormal fetuses (trisomy 21, n = 40; trisomy 18, n = 19; trisomy 13, n = 7; triploidy, n = 14; Turner syndrome, n = 8) were analyzed. The subarachnoid space diameters, measured in the sagittal and transverse planes of the fetal head, in relation to biparietal diameter (BPD) in each group of aneuploidies was compared to that in euploid fetuses...
January 16, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#11
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high-resolution copy number screening in 66 fetuses with neural tube defects, we identified six fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
April 2018: Human Mutation
https://www.readbyqxmd.com/read/29278735/expanding-the-fanco-rad51c-associated-phenotype-cleft-lip-and-palate-and-lobar-holoprosencephaly-two-rare-findings-in-fanconi-anemia
#12
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I Van Allen, Millan S Patel
Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate...
December 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29247566/application-of-the-bacs-on-beads%C3%A2-assay-for-rapid-prenatal-detection-application-of-bobs%C3%A2-for-pnd-of-aneuploidies-and-microdeletions
#13
Hailong Huang, Min Zhang, Yan Wang, Na Lin, Deqin He, Meihuan Chen, Lingji Chen, Yuan Lin, Liangpu Xu
Prenatal diagnosis focuses on the detection of anatomic and physiologic problems with a foetus before birth. Karyotyping is currently considered the gold standard for prenatal diagnosis of chromosomal abnormalities, but this method can be time consuming. This study evaluated the diagnostic accuracy of the BACs-on-BeadsTM (BoBs™) assay for the rapid diagnosis of aneuploidies and microdeletions. A total of 625 samples from pregnant women in Fujian province, in southeastern China-including three chorionic villus biopsies, 523 amniotic fluid samples, and 99 umbilical-cord centesis samples-were assessed for chromosomal abnormalities by karyotyping and by the BoBs™ assay...
February 2018: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/29246465/resource-use-and-morbidities-in-pediatric-cardiac-surgery-patients-with-genetic-conditions
#14
Jamie Furlong-Dillard, David Bailly, Venugopal Amula, Jacob Wilkes, Susan Bratton
OBJECTIVE: To evaluate and describe resource use and perioperative morbidities among those patients with genetic conditions undergoing cardiac surgery. STUDY DESIGN: Using the Pediatric Health Information System database, we identified patients ≤18 years old with cardiac surgery classified by Risk Adjustment for Congenital Heart Surgery (RACHS) during 2003-2014. A total of 95 253 patients met study criteria and included no genetic conditions (84.6%), trisomy 21 (9...
February 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29241931/prenatal-diagnosis-of-low-level-mosaicism-for-trisomy-13-at-amniocentesis-associated-with-a-favorable-outcome
#15
Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Chi Lee, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+13[5]/46,XY[20]. Oligonucleotide array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed arr [GRCh37] (13)×3 [0.10], (X,Y)×1 compatible with trisomy 13 mosaicism...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29220612/coexistence-of-trisomy-13-and-sry-xx-ovotesticular-disorder-of-sex-development
#16
Gizem Ürel Demir, Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu, Safak Gucer, Mehmet Alikaşifoğlu
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. CASE REPORT: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD...
December 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29181862/perforation-and-right-ventricular-outflow-tract-stenting-alternative-palliation-for-infants-with-pulmonary-atresia-ventricular-septal-defect
#17
David Aurigemma, John W Moore, Gabrielle Vaughn, Nasser Moiduddin, Howaida G El-Said
BACKGROUND: Right ventricular outflow tract (RVOT) stents have been used as palliation in patients with severe tetralogy of Fallot (TOF). Radiofrequency perforation of the RVOT has also been described in patients with pulmonary atresia (PA)/ventricular septal defect (VSD). However, RVOT stenting in conjunction with radiofrequency perforation as a means for establishing reliable pulmonary blood flow in patients with PA/VSD has not previously been reported. OBJECTIVES: Our aim is to report our experience with using perforation of plate-like pulmonary valve atresia combined with stenting of RVOT as an alternative and equally efficacious intervention for infants with PA/VSD, as compared to a surgical pulmonary artery shunt (SPS)...
November 27, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/29130666/-application-of-chromosomal-microarray-analysis-for-chromosomal-abnormalities-of-spontaneously-aborted-fetuses
#18
Ting Hu, Hong-Mei Zhu, Zhu Zhang, Jia-Min Wang, Hai-Xia Zhang, Ze Du, Ling-Pingi Li, He Wang, Shan-Ling Liu
OBJECTIVE: To evaluate the clinical significance of chromosomal microarry analysis (CMA) for detection of chromosomal abnormalities in spontaneously aborted fetuses. METHODS: Chorionic villi samples from 431 spontaneously aborted fetuses were detected on the chromosomal abnormalities by CMA in our department form September 2014 to April 2016. RESULTS: The overall success rate of CMA was 100%,and 283 cases were detected with abnormalities (65...
September 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#19
Yky Cheng, W C Leung, T Y Leung, K W Choy, Rwk Chiu, T-K Lo, K Y Kwok, D S Sahota
OBJECTIVE: To examine preferences for follow-up testing in women screened with high or intermediate risk for Down syndrome in the first or second trimester. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with pregnancies termed as high risk (≥1:250; HR) or intermediate risk (1:251-1200; IR) for Down syndrome. METHODS: Women with pregnancies screened as HR were offered the choices of: (1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information; (2) non-invasive cell-free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21, and to avoid procedure-related miscarriage; and (3) to decline any further testing...
March 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#20
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
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