Results 41 to 50 of about 21,310 (228)

First-Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 46, Issue 10, Page 1667-1671, September 2026.
Šimják P, Král J, Rašková D, Koudová M, Stejskal D.   +4 more
europepmc   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Acute kidney injury, secondary to valacyclovir use during pregnancy for the prevention of fetal cytomegalovirus infection

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract High dose valacyclovir treatment of pregnant women has become a common treatment for primary CMV infection, to prevent vertical transmission to the fetus. We present a case of a healthy young pregnant female with primary CMV infection during the first trimester who was diagnosed with acute kidney injury secondary to valacyclovir treatment ...
Jason Brafman, Yechiel Schlesinger, Moshe Barg, Shmuel Benenson   +3 more
wiley   +1 more source

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

, 2011
Objective To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7 Materials, Methods and Results A 38 year old primigravid woman underwent amniocentesis at 19 weeks of gestation because of her advanced maternal age Amniocentesis ...
陳持平;蘇怡寧;陳樹人;林炫沛;許瓊心;蔡輔仁;王道遠;吳佩臻;李貞姫;陳麗鳳;王偉信, CHEN, CHIH-PING;SU, YI-NING;CHERN, SCHU-RERN;LIN, SHUAN-PEI;HSU, CHYONG-HSIN;TSAI, FUU-JEN;WANG, TAO-YEUAN;WU, PEI-CHEN;LEE, CHEN-CHI;CHEN, LI-FENG;WANG, WAYSEEN   +1 more
core   +1 more source

Unlocking insights: Validating a comprehensive model for predicting spontaneous preterm delivery and microbial invasion in women facing preterm labor

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Preterm labor is a multifactorial syndrome with diverse etiologies such as infection, inflammation, uteroplacental dysfunction, stress, and immune dysregulation. Identifying women at high risk remains a challenge, and multivariate prediction models have been developed to enhance risk stratification.
Ester del Barco, Nerea Maiz, Clara Franco‐Jarava, Mireia Vargas, Silvia Arévalo, María A. Sánchez‐Durán, Carlota Rodó, Manel Mendoza, Marta Dalmau, Alba Casellas, Manuel Hernández‐González, Anna Suy, María Goya   +12 more
wiley   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis [PDF]

, 2019
Objectives: To estimate the procedure-related risks of miscarriage after amniocentesis and trans-abdominal chorionic villus sampling (CVS) based on a systematic review of the literature and an updated meta-analysis. Methods: A search of MEDLINE, EMBASE,
Wulff, C. B., A. Odibo, R. Akolekar, Akolekar, R., Sotiriadis, A., L. J. Salomon, C. B. Wulff, Salomon, L. J., A. Sotiriadis, Odibo, A.   +9 more
core   +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