Results 31 to 40 of about 19,473 (244)

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

Analysis of the results of amniocentesis performed at the University clinical centre of the Republic of Srpska [PDF]

Scripta Medica, 2017
Introduction: Due to its reliability and relatively low risk, amniocentesis is the most widely used method of prenatal diagnostics, primarily for diagnostics of chromosomal aberrations.
Marić Nina, Petrović-Tepić Snežana, Predojević-Samardžić Jelica, Ljuboja Olivera   +3 more
doaj  

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

Does chorionic villus sampling increase the risk of preeclampsia or gestational hypertension?

International Journal of Preventive Medicine, 2019
Background: Chorionic villus sampling (CVS) and amniocentesis are two methods for prenatal diagnosis. The goal of this study was to compare amniocentesis and CVS-related complications in a large sample of Iranian women.
Mahboobeh Shirazi, Maryam Rabiei, Fatemeh Rahimi, Shirin Niroomanesh, Fateme Golshahi, Mitra Eftekhar Yazdi   +5 more
doaj   +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

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

Cytomegalovirus-Specific Hyperimmune Immunoglobulin Administration for Secondary Prevention after First-Trimester Maternal Primary Infection: A 13-Year Single-Center Cohort Study

Viruses
Primary cytomegalovirus infection during pregnancy has a high risk of vertical transmission, with severe fetal sequelae mainly associated with first-trimester infections.
Emmanouil Karofylakis, Konstantinos Thomas, Dimitra Kavatha, Lamprini Galani, Sotirios Tsiodras, Helen Giamarellou, Vassiliki Papaevangelou, Anastasia Antoniadou   +7 more
doaj   +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

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