Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths by Lingyun Zhang, Lei Feng, Hao Shi, Wenbin Niu, Yanchi Wang, Bei Bu, Yidong Liu, Xiao Bao, Wenyan Song, Haixia Jin, Yingpu Sun

“…Finally, prenatal amniocentesis was used to verify the validity of the PGT-M results. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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). …”
Get full text

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. …”
Get full text

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. …”
Get full text

Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis by Ting-Yu Chang, Zhu Wei Lim, Yi-Tzu Chu, Wan-Ju Wu, Mei-Hui Lee, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Ho, Jin-Chung Shih, Gwo-Chin Ma, Ming Chen

“…Both cases were diagnosed by high coverage WES and led to successful subsequent pregnancies by preimplantation genetic diagnosis and genetic amniocentesis. Conclusion: Preimplantation genetic testing using STR linkage analysis can rescue cases with autosomal recessive inheritance when only one mutation is found in the putative gene, while reanalysis of high-coverage WES by optimized updated bioinformatics should always be considered in addition to whole genome sequencing.…”
Get full text