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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/30652326/comment-on-noninvasive-prenatal-test-for-fgfr3-related-skeletal-dysplasia-based-on-next-generation-sequencing-and-plasma-cell-free-dna-test-performance-analysis-and-feasibility-exploration
#1
LETTER
Liangcheng Wang, Isao Horiuchi, Kenjiro Takagi
No abstract text is available yet for this article.
January 16, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30650192/chromosomal-microarray-analysis-in-fetuses-with-congenital-anomalies-of-the-kidney-and-urinary-tract-a-prospective-cohort-study-and-meta-analysis
#2
Shuyuan Li, Xu Han, Yanlin Wang, Songchang Chen, Jianmei Niu, Zhaoxia Qian, Pin Li, Li Jin, Chenming Xu
OBJECTIVE: To evaluate the usefulness and incremental diagnostic yield of chromosomal microarray analysis (CMA) compared to standard karyotyping in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: A prospective cohort study and systematic review of the literature were conducted. In the prospective cohort study, 123 fetuses with CAKUT, as detected by prenatal ultrasound at our center, were enrolled and evaluated using karyotyping and CMA...
January 16, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30650191/prenatal-detection-of-isolated-bilateral-hyperechogenic-kidneys-etiologies-and-outcomes
#3
Shirley Shuster, Johannes Keunen, Patrick Shannon, Nicholas Watkins, Karen Chong, David Chitayat
OBJECTIVES: To delineate the etiology and outcome of prenatally diagnosed isolated bilateral hyperechogenic kidneys (IBHK). STUDY DESIGN: Pregnancies with IBHK on prenatal ultrasound identified and followed by us between January 1, 2000 and January 1, 2015, were evaluated regarding the etiology and outcome by evaluation of family history, targeted AR-PKD and AD-PKD DNA analysis and microarray analysis, according to renal size and amniotic fluid volume. RESULTS: Of the 52 identified cases, there were 34 cases with enlarged kidneys, 16 with normal size kidneys and 2 with small kidneys...
January 16, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30650188/the-best-cutoff-value-of-middle-cerebral-artery-peak-systolic-velocity-for-the-diagnosis-of-fetal-homozygous-alpha-thalassemia-1-disease
#4
Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
OBJECTIVE: To determine the best cutoff value of middle cerebral artery peak systolic velocity (MCA-PSV) for the diagnosis of fetuses with homozygous alpha thalassemia-1 disease. METHODS: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited. MCA-PSV was measured before cordocentesis for hemoglobin typing and complete blood count. The performance of the MCA-PSV for identifying affected fetuses was evaluated using a best cutoff value derived from the ROC curve...
January 16, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30637780/the-price-of-abandoning-diagnostic-testing-for-cell-free-fetal-dna-screening
#5
LETTER
Mark I Evans, Shara M Evans, Terri-Ann Bennett, Ronald J Wapner
No abstract text is available yet for this article.
January 13, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30637775/comment-on-the-price-of-abandoning-diagnostics-testing-for-cell-free-fetal-dna-screening
#6
LETTER
Brian G Skotko, David Samuelson, Andrew Kageleiry, Patrick Lefebvre, Michael Hellstern, John Campbell
No abstract text is available yet for this article.
January 13, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30635939/three-dimensional-virtual-traveling-navigation-and-three-dimensional-printing-models-of-a-normal-fetal-heart-using-ultrasonography-data
#7
Heron Werner, Jorge Lopes, Gerson Ribeiro, Alberto Barbosa Raposo, Evaldo Trajano, Edward Araujo Júnior
No abstract text is available yet for this article.
January 12, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30625249/noninvasive-screening-by-cell-free-dna-for-22q11-2-deletion-benefits-limitations-and-challenges
#8
REVIEW
Francesca Romana Grati, Susan J Gross
Cell-free DNA (cfDNA) testing for fetal aneuploidy is one of the most important technical advances in prenatal care. Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clinical testing technology. While there are numerous potential benefits, 22q11.2 microdeletion screening using cfDNA testing also presents significant limitations and pitfalls. Practitioners who are offering this test should provide comprehensive pretest and posttest prenatal counselling...
January 9, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30618058/reproducibility-of-fetal-lung-to-head-ratio-in-left-diaphragmatic-hernia-across-the-north-american-fetal-therapy-network-naftnet
#9
Nimrah Abbasi, Greg Ryan, Anthony Johnson, Magda Sanz Cortes, Haleh Sangi-Haghpeykar, Xiang Y Ye, Prakesh S Shah, Alexandra Benachi, Julien Saada, Rodrigo Ruano
OBJECTIVE: To determine the antenatal sonographic lung area measurement method in left congenital diaphragmatic hernia (CDH) with the highest inter-rater agreement amongst North American Fetal Therapy Network (NAFTNet) centers within and outside the fetoscopic tracheal occlusion (FETO) consortium and in comparison to a European "expert" reviewer (ER). METHODS: Nineteen members from 9 FETO consortium centers and 29 reviewers from 17 non-FETO centers reviewed ultrasound clips of the chest from 13 fetuses with isolated left CDH and were asked to select a static plane for lung area measurement using antero-posterior (AP), longest and trace methods...
January 7, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30615216/evaluation-of-the-post-la-space-index-in-the-normal-fetus
#10
Yukiko Kawazu, Noboru Inamura, Futoshi Kayatani, Takeshi Taniguchi
OBJECTIVE: We previously reported the post-LA space index (PLAS index), which is calculated as left atrial-descending aorta distance (LD) divided by the diameter of descending aorta (DA), could be useful for prenatal diagnosis of total anomalous pulmonary venous connection (TAPVC). In this study, we evaluated PLAS index in normal fetuses to assess its usefulness. METHODS: In 304 normal fetuses, LD and DA were retrospectively measured and the PLAS index was calculated...
January 7, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30614017/should-mri-be-performed-on-all-fetuses-with-mild-ventriculomegaly
#11
Daniela Prayer, Dario Paladini, Jan Deprest
A ventricular diameter of 10 mm correlates with more than two standard deviations of the normal, hence is qualified as ventriculomegaly. The relevance of it is dependent on whether there are associated infectious, genetic or structural problems. The chance for neurodevelopmental delay in isolated ventriculomegaly less than 15mm is 7.9% (4.7-11.1), and less if it is unilateral. It can be further divided in mild (10-12) or moderate (13-15), though this is not widely accepted. As part of the work-up, structural assessment today may include ultrasound or magnetic resonance imaging, or both...
January 6, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30610742/cell-free-fetal-dna-to-triage-antenatal-rhesus-immune-globulin-is-it-really-cost-effective-in-the-u-s
#12
Kenneth J Moise, S Shahrukh Hashmi, Kara Markham, Pedro S Argoti, Michael Bebbington
OBJECTIVE: To compare the efficacy and costs of three different strategies of antenatal Rhesus immune globulin (RhIG) administration in a U.S. POPULATION: <AbstractText Label="METHODS" NlmCategory="METHODS">A decision tree analysis was undertaken for universal antenatal RhIG administration based on RhD serologic paternity testing, universal administration without paternity and selective antenatal RhIG administration using cell free fetal DNA (cfDNA) for RHD fetal typing...
January 4, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30609053/amniotic-membrane-and-placental-histopathological-findings-after-open-and-fetoscopic-prenatal-neural-tube-defect-repair
#13
Magdalena Sanz-Cortés, Eumenia Castro, Dina Sharhan, Paola Torres, Mayel Yepez, Jimmy Espinoza, Alireza A Shamshirsaz, Ahmed A Nassr, Edwina Popek, William Whitehead, Michael A Belfort
OBJECTIVES: To describe and compare placental and amniotic histology in women who underwent a fetoscopic myelomeningocele repair to those who underwent an open-hysterotomy myelomeningocele repair. Also, we intended to compare findings from both prenatal repair groups to age-matched control pregnant patients. METHODS: Placental and membrane histopathology from 43 prenatally repaired spina bifida cases (17 fetoscopic and 26 open) and 18 healthy controls were retrospectively assessed...
January 4, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30602066/non-invasive-fetal-electrocardiography-for-the-detection-of-fetal-arrhythmias
#14
Joachim A Behar, Laurent Bonnemains, Vyacheslav Shulgin, Julien Oster, Oleksii Ostras, Igor Lakhno
OBJECTIVE: To assess whether non-invasive fetal electrocardiography (NI-FECG) enables the diagnosis of fetal arrhythmias. METHODS: A total of 500 echocardiography and NI-FECG recordings were collected from pregnant women during a routine medical visit in this multicenter study. All the cases with fetal arrhythmias (n = 12) and a matching number of control (n = 14) were used. Two perinatal cardiologists analyzed the extracted NI-FECG while blinded to the echocardiography...
January 2, 2019: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30593668/in-case-you-missed-it-the-prenatal-diagnosis-editors-bring-you-the-most-significant-advances-of-2018
#15
A Ghidini, D W Bianchi, B Levy, T Van Mieghem, J Deprest, L S Chitty
No abstract text is available yet for this article.
December 28, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30586157/classification-of-factors-involved-in-nonreportable-results-of-noninvasive-prenatal-testing-nipt-and-prediction-of-success-rate-of-second-nipt
#16
Nobuhiro Suzumori, Akihiko Sekizawa, Eri Takeda, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hiroko Kuriki, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Takahiro Yamashita, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazutoshi Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Masayuki Endo, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Takeshi Nagamatsu, Atsushi Watanabe, Naomi Nishikawa, Naoki Hamajima, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Keiko Koide, Tatsuko Hirose, Haruhiko Sago
OBJECTIVE: To evaluate the reasons for nonreportable cell-free DNA (cfDNA) results in noninvasive prenatal testing (NIPT), we retrospectively studied maternal characteristics and other details associated with the results. METHODS: A multicenter retrospective cohort study in pregnant women undergoing NIPT by massively parallel sequencing (MPS) with failed cfDNA tests was performed between April 2013 and March 2017. The women's data and MPS results were analyzed in terms of maternal characteristics, test performance, fetal fraction, z-scores, anticoagulation therapy, and other details of the nonreportable cases...
December 26, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30578734/fetal-akinesia-deformation-sequence-arthrogryposis-multiplex-congenita-and-bilateral-clubfeet-is-motor-assessment-of-additional-value-for-in-utero-diagnosis-a-ten-year-cohort-study
#17
Jill K Tjon, Gita M Tan-Sindhunata, Marianna Bugiani, Melinda Witbreuk, Johannes A Van der Sluijs, Marjan M Weiss, Laura A Van de Pol, Mirjam M Van Weissenbruch, Bloeme J van der Knoop, Johanna I de Vries
No abstract text is available yet for this article.
December 22, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30578730/hypoplastic-nasal-bone-a-potential-marker-for-facial-dysmorphism-associated-with-pathogenic-copy-number-variants-on-microarray
#18
Ying Zhi Gu, Deborah L Nisbet, Karen L Reidy, Ricardo Palma-Dias
OBJECTIVES: To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD: Fetuses with ultrasound detected hypoplastic nasal bone (absent or <2.5th percentile in length) between 16-37 weeks' gestation over a ten-year period were analysed retrospectively...
December 22, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30575063/enrichment-of-fetal-and-maternal-long-cell-free-dna-fragments-from-maternal-plasma-following-dna-repair
#19
Joaquim S L Vong, Peiyong Jiang, Suk-Hang Cheng, Wing-Shan Lee, Jason C H Tsang, Tak-Yeung Leung, K C Allen Chan, Rossa W K Chiu, Y M Dennis Lo
OBJECTIVE: Cell-free DNA (cfDNA) fragments in maternal plasma contain DNA damage and may negatively impact the sensitivity of noninvasive prenatal testing (NIPT). However, some of these DNA damages are potentially reparable. We aimed to recover these damaged cfDNA molecules using PreCR DNA Repair Mix. METHODS: cfDNA was extracted from twenty maternal plasma samples and was repaired and sequenced by the Illumina platform. Size profiles and fetal DNA fraction changes of repaired samples were characterized...
December 21, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/30548285/z-scores-of-the-fetal-trachea-and-bronchial-dimension
#20
Danming Cao, Shi Zeng, Xinyan Li, Jiawei Zhou, Qichang Zhou
OBJECTIVE: To develop Z-scores for the trachea and main bronchi in normal fetuses. METHODS: This was a prospective cross-sectional study in 823 normal singleton fetuses. The tracheal diameter immediately proximal to the bifurcation as well as the left and right main bronchial diameters were measured from their inner to inner edge in the coronal view. Z-scores were created for the trachea and main bronchial diameters using gestational age (GA), femur length (FL) and biparietal diameter (BPD) as independent variables...
December 12, 2018: Prenatal Diagnosis
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