Results 41 to 50 of about 518 (105)

Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: A prenatal diagnosis of partial monosomy 21q(21q22.1→ qter) in fetus with intrauterine growth restriction and corpus callosum dysgenesis but escaped from the detection by cell free DNA testing was reported.
Ying-Chung Chen, Wan-Ju Wu, Shun-Ping Chang, Gwo-Chin Ma, Ming Chen   +4 more
doaj   +1 more source

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

BMC Pregnancy and Childbirth, 2021
Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
Jinman Zhang, Xinhua Tang, Jilin Hu, Guilin He, Jian Wang, Yingting Zhu, Baosheng Zhu   +6 more
doaj   +1 more source

Maternal and perinatal outcomes of pregnant women with echocardiographically high probability of pulmonary arterial hypertension

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study aimed to describe maternal and perinatal outcomes among pregnant women with echocardiographically high probability of pulmonary arterial hypertension (PAH) managed at a quaternary center and to compare outcomes between women with and without cardiac complications (CC).
Laura Belmont‐Rojo, Rosa Hernandez‐Cruz, Ana Jimena Lopez‐Diaz, Diana Yazmin Copado‐Mendoza, Tirso Rubalcava‐Rubalcava, Mario Isaac Lumbreras‐Marquez, Maria Antonia Pijuan‐Domenech   +6 more
wiley   +1 more source

In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair‐End Sequencing of Maternal Plasma DNA

Journal of Clinical Laboratory Analysis, EarlyView.
This study presents a new bioinformatics pipeline for noninvasive prenatal testing (NIPT) that filters DNA fragments to significantly improve the fetal DNA fraction. This enhanced method successfully analyzed samples previously rejected for low fetal fraction and could distinguish between fetal and maternal chromosomal abnormalities.
Lihui Yang, Jiutong Zhang, Ji Zhang, Qiujie Jin, Yating Wang, Qiuhua Wu, Fengrui Shi, Rui Wang, Yunping Liu, Na Cai, Xiaobin Wang, Rong Qiang   +11 more
wiley   +1 more source

Renal ultrasound after first febrile urinary tract infection in hospitalized children: The ROUTINE prospective observational study protocol

Journal of Hospital Medicine, EarlyView.
Abstract Background Urinary tract infection (UTI) is a common reason for hospitalization in young children. American and Canadian guidelines recommend universal renal ultrasound after a first febrile UTI to identify genitourinary abnormalities that require further management, despite limited supporting evidence. The Renal ultrasOund after first febrile
Sanjay Mahant, Keenjal Mistry, Ann Bayliss, Nicholas Barrowman, Karen Born, Cornelia Borkhoff, Raman Chawla, David D'Arienzo, Aurelie D'Hondt, Kim De Castris‐Garcia, Joana Dos Santos, Olivier Drouin, Ricardo Faingold, Vince Albert Flores, Jessica Foulds, Jeremy Friedman, Lucy Giglia, Joanna Holland, Radha Jetty, Kristopher Kang, Patricia Li, Grace Leo, Armando Lorenzo, Elise Lu, Colin Macarthur, Kyle Millar, Myla E. Moretti, Nassr Nama, Olivia Ostrow, Rachel Pearl, Patricia Parkin, Mandy Rickard, Mahmoud Sakran, Anupam Sehgal, Nader Shaikh, Sepideh Taheri, Otto G. Vanderkooi, Gemma Vomiero, Kim Zhou, Peter J. Gill, the Canadian Paediatric Inpatient Research Network (PIRN)   +40 more
wiley   +1 more source

Concordance analysis between noninvasive prenatal testing (NIPT) and prenatal karyotyping for detecting fetal aneuploidies

Revista de la Facultad de Medicina, 2023
Introduction: Noninvasive prenatal testing (NIPT) is a screening test for fetal aneuploidy with higher specificity and sensibility rates compared to traditional biochemical prenatal screening. Objective: To evaluate concordance between NIPT and prenatal
Diana Carolina Grajales-Ospina, Luz Karime Yunis-Hazbun, Andrés Mauricio Camacho-Montaño, Alejandro Antonio Bautista-Charry, Reinaldo Niño-Alba, Juan José Yunis   +5 more
doaj   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source