Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy by Mehmet Sinan Beksac, Atakan Tanacan, Duygu Aydin Hakli, Gokcen Orgul, Burcu Soyak, Burcu Balci Hayta, Pervin Dincer, Haluk Topaloğlu

“…Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. …”
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Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1 by Sabrina C. Burn, Kali Swift, Maria Palmquist

“…Here, we describe two, previously unreported, simultaneous de novo interstitial duplications of chromosomes 7p and 15q. Amniocentesis was completed for a healthy gravida 4 para 3 woman due to her advanced maternal age and concurrent ultrasound findings of partial vermian agenesis, choroid-plexus cysts, and hypoplastic nasal bone. …”
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Prenatal Cytogenetic Findings in 13.466 Cases of High-Risk Pregnant Women in One Laboratory by Leyla Özer, Evrim Ünsal, Özge Ayvaz, Aşkın Şen, Volkan Baltacı

“…STUDY DESIGN: Between years 2001 and 2009, a large series of 13466 pregnant women with various high-risk factors were referred to our genetic laboratory for prenatal genetic diagnosis. 12.124 amniocentesis, 212 chorionic villus sampling (CVS), 173 percutaneous umbilical blood sampling (PUBS) samples and 809 fetal and placental tissue samples (from aborted or from stillbirth fetuses) were collected. …”
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Congenital malformations in children of diabetic mothers in the province of Cienfuegos. 2016-2019 by Fanny Arbolay Sanabria, Lázaro Roberto Herrera Fragoso, Maylé Santos Solí, Gladys Bárbara Barberis Pérez, Walkiria Díaz Senra, María Soledad Vilches León

“…The variables maternal age, body mass index, type of diabetes, its treatment, type of malformation, ultrasonographic results of the three trimesters of pregnancy, alpha-fetoprotein study and amniocentesis were studied.<br /><strong>Results:</strong> in the studied population the highest percentage of mothers presented gestational diabetes mellitus; Mothers between 20 and 35 years old predominated and a large number of them were overweight. …”
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Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4 by Halit Akbas, Naci Cine, Mahmut Erdemoglu, Ahmet Engin Atay, Selda Simsek, Aysegul Turkyilmaz, Mehmet Fidanboy

“…A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. …”
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Urocortin in Second Trimester Amniotic Fluid: Its Role as Predictor of Preterm Labor by C. Iavazzo, K. Tassis, D. Gourgiotis, M. Boutsikou, S. Baka, D. Hassiakos, C. Vogiatzi, L. Florentin-Arar, A. Malamitsi-Puchner

“…These results suggest that urocortin concentrations in the amniotic fluid of genetic amniocentesis are not predictive of preterm labor and birth.…”
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Diagnóstico prenatal citogenético en la provincia de Cienfuegos entre los años 2007 y 2010 by Pedro Alí Díaz-Véliz Jiménez, Yamelis Garrido Martínez, Aime Guerra Jorge, Belkis Vidal Hernández

“…<strong><br />Resultados:</strong> en el período estudiado se procesaron 1 172 amniocentesis de pacientes embarazadas, se diagnosticaron 1 076 de ellas para un 91, 81 % de efectividad. …”
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Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies by Jin Wang, Danni Wang, Yan Yin, Yi Deng, Mengling Ye, Ping Wei, Zhuo Zhang, Chun Chen, Shengfang Qin, Xueyan Wang

“…From March 2019 to March 2021, 3710 amniocentesis samples were retrospectively collected from women who accepted prenatal diagnosis at 16 to 22 + 6 weeks of pregnancy. …”
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Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta by Veronica Ortega, Christina Mendiola, Eric Williamson, Kenneth Higby, Gopalrao V. N. Velagaleti

“…A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. …”
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Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases by Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang

“…Results 66 cases identified as high-risk for rare autosomeal trisomies, yielding a detection rate of 0.20% (66/33,079). 7 declined amniocentesis, while the others underwent the procedure. …”
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Importance of Aberrant Right Subclavian Artery Detection During Second Trimester Ultrasound Examination in Low-Risk Population by Erdal Seker, Hasan Sut, Mustafa Kocar, Coskun Umit, Esra Ozkavukcu, Acar Koc

“…Pregnant women have had their detailed ultrasonography at our clinic and who were between 18th-24th gestational weeks were included. Amniocentesis was performed on the patients who have accepted, and genetic results were followed up. …”
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Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally by Akihiro Hasegawa, Osamu Samura, Taisuke Sato, Tomona Matsuoka, Yuki Ito, Kazuhiro Kajiwara, Hiroaki Aoki, Yuka Inage, Masahisa Kobayashi, Aikou Okamoto

“…A 33-year-old Japanese woman, primigravida, underwent amniocentesis because of fetal growth restriction and fetal structural abnormality at 30 weeks of gestation. …”
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Influence of Second-Trimester Ultrasound Markers for Down Syndrome in Pregnant Women of Advanced Maternal Age by Mariza Rumi Kataguiri, Edward Araujo Júnior, Luiz Claudio Silva Bussamra, Luciano Marcondes Machado Nardozza, Antonio Fernandes Moron

“…This was a retrospective cohort study on 889 singleton pregnancies between the 14th and 30th weeks, with maternal age ≥ 35 years, which would undergo genetic amniocentesis. The second-trimester ultrasound assessed the following markers: increased nuchal fold thickness, cardiac hyperechogenic focus, mild ventriculomegaly, choroid plexus cysts, uni- or bilateral renal pyelectasis, intestinal hyperechogenicity, single umbilical artery, short femur and humerus length, hand/foot alterations, structural fetal malformation, and congenital heart disease. …”
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Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography by Ingrid Schwach Werneck Britto, Sandra Regina Silva Herbest, Giselle Darahem Tedesco, Carolina Leite Drummond, Luiz Claudio Silva Bussamra, Edward Araujo Júnior, Rodrigo Ruano, Simone Hernandez Ruano, José Mendes Aldrighi

“…Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. …”
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Cost-Benefit Analysis of Genetic Testing as a Prenatal Diagnostic Tool for Thalassemia: A Single-Center Study From Central Thailand by Malasai K, Jittikoon J, Udomsinprasert W, Talungchit P, Youngkong S, Sangroongruangsri S, Mahasirimongkol S, Chaikledkaew U

“…Kwandao Malasai,1,2 Jiraphun Jittikoon,3 Wanvisa Udomsinprasert,3 Pattarawalai Talungchit,4,5 Sitaporn Youngkong,5,6 Sermsiri Sangroongruangsri,6 Surakameth Mahasirimongkol,7 Usa Chaikledkaew5,6 1Social, Economic and Administrative Pharmacy (SEAP) Graduate Program, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand; 2Social Pharmacy Research Unit, Faculty of Pharmacy, Mahasarakham University, Maha Sarakham, Thailand; 3Department of Biochemistry, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand; 4Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 5Mahidol University Health Technology Assessment (MUHTA) Graduate Program, Mahidol University, Bangkok, Thailand; 6Social and Administrative Pharmacy Division, Department of Pharmacy, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand; 7Information and Communication Technology Center, Office of the Permanent Secretary, Ministry of Public Health, Nonthaburi, ThailandCorrespondence: Usa Chaikledkaew, Social and Administrative Pharmacy Division, Department of Pharmacy, Faculty of Pharmacy, Mahidol University, 447 Sri-Ayudhaya Road, Rachathewi, Phayathai, Bangkok, 10400, Thailand, Email usa.chi@mahidol.ac.thPurpose: This study aimed to evaluate the costs and benefits of genetic testing, specifically mutation analysis and prenatal diagnostic testing, for the confirmation of thalassemia in at-risk pregnancies in Thailand, providing crucial insights to inform public health policy decision-making.Patients and Methods: We analyzed the costs and benefits of following standard screening guidelines, which included a sequence of tests such as mean corpuscular volume (MCV)/mean corpuscular hemoglobin (MCH) with dichlorophenol indophenol precipitation (DCIP), hemoglobin (Hb) typing, genetic testing, and amniocentesis. A decision-tree model was employed for this analysis. …”
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Association between Brain-Derived Neurotrophic Factor (BDNF) Levels in 2nd Trimester Amniotic Fluid and Fetal Development by Nikolaos Antonakopoulos, Zoe Iliodromiti, George Mastorakos, Christos Iavazzo, Georgios Valsamakis, Nikolaos Salakos, Aris Papageorghiou, Alexandra Margeli, Sophia Kalantaridou, George Creatsas, Efthymios Deligeoroglou, Nikolaos Vrachnis

“…In accordance with our study design, samples of amniotic fluid were collected from women who had undergone amniocentesis early in the 2nd trimester. All pregnancies were followed up until delivery and fetal growth patterns and birth weights were recorded, following which pregnancies were divided into three groups based on fetal weight: (1) AGA (appropriate for gestational age), (2) SGA (small for gestational age), and (3) LGA (large for gestational age). …”
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Set of 15 SNP-SNP Markers for Detection of Unbalanced Degraded DNA Mixtures and Noninvasive Prenatal Paternity Testing by Ranran Zhang, Yu Tan, Li Wang, Hui Jian, Jing Zhu, Yuanyuan Xiao, Mengyu Tan, Jiaming Xue, Fan Yang, Fan Yang, Weibo Liang

“…Besides, all fetal alleles in maternal plasma were confirmed by genotyping fetal genomic DNA from amniocentesis and paternal genomic DNA from peripheral blood. …”
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Characterization of the procoagulant phenotype of amniotic fluid across gestation in rhesus macaques and humans by Chih Jen Yang, Lyndsey E. Shorey-Kendrick, Cristina Puy, Ashley E. Benson, Phillip A. Wilmarth, Ashok P. Reddy, Keith D. Zientek, Kilsun Kim, Adam Crosland, Chaevien S. Clendinen, Lisa M. Bramer, Olivia L. Hagen, Helen H. Vu, Joseph E. Aslan, Owen J.T. McCarty, Joseph J. Shatzel, Brian P. Scottoline, Jamie O. Lo

“…Methods: We analyzed the proteomes, lipidomes, and procoagulant properties of AF obtained by amniocentesis from rhesus macaque and human pregnancies at gestational age-matched time points. …”
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