Results 31 to 40 of about 2,265,315 (182)

Intra-uterine fetal demise caused by amniotic band syndrome after standard amniocentesis [PDF]

, 2000
The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal feta I development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II
Bauerfeind, I., Hasbargen, U., Hepp, Hermann, Strauss, Alexander, Paek, Bettina   +4 more
core   +1 more source

Image4_Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples.jpg

, 2023
Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters ...
He Wang (250350), Shanling Liu (11257638), Hongmei Zhu (105489), Xuemei Zhang (89768), Xijing Liu (16021871), Qinqin Li (2023468), Lili Zhang (120447), Yueyue Xiong (16021874), Lingping Li (5558414)   +8 more
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

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

Chorionic Structures in Maternal Blood [PDF]

, 2007
Chorionic villi are the exchange structures of the placenta where human fetuses receive oxygen and nutrients from maternal blood, this article reports an improvement of a published method to recover them from the blood of pregnant, women, quotes their ...
Nilo Pereira Luz
core  

Image5_Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples.jpg

, 2023
Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters ...
He Wang (250350), Shanling Liu (11257638), Hongmei Zhu (105489), Xuemei Zhang (89768), Xijing Liu (16021871), Qinqin Li (2023468), Lili Zhang (120447), Yueyue Xiong (16021874), Lingping Li (5558414)   +8 more
core   +1 more source

Transcriptomic Profiling of SLC and ABC Transporters in the Human Term Placenta

Clinical Pharmacology &Therapeutics, EarlyView.
Solute carriers (SLC) and ATP‐binding cassette (ABC) transporters are essential for placental solute exchange and fetal protection, yet their transcriptomic profiles in the human placenta remain poorly characterized. Although fetal sex influences placental development and function, its impact on transporter expression is unclear.
Elijah Marsh Jung, Nicholas Ieronimakis, Bothaina Mousa, Emily D. Sheikh, Sarah E. Ligon, Joshua W. Monson, Jennifer R. Damicis, Hillary J. Kinsman, Lydia E. Bettridge, Samuel L.M. Arnold, Edward J. Kelly, Jashvant D. Unadkat, Joanne Wang   +12 more
wiley   +1 more source

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature

Children, 2022
Background: MCPH1 is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus).
Ioannis Papoulidis, Makarios Eleftheriades, Emmanouil Manolakos, Michael B. Petersen, Simoni Marina Liappi, Anastasia Konstantinidou, Maria Papamichail, Vassilios Papadopoulos, Antonios Garas, Sotirios Sotiriou, Ioannis Papastefanou, Georgios Daskalakis, Aleksandar Ristic   +12 more
doaj   +1 more source

Chorionic Villi Sampling: A Nursing Perspective

Journal of Obstetric, Gynecologic & Neonatal Nursing, 1988
A relatively new procedure, chorionic villi sampling is now available as an alternative method for prenatal diagnoses of genetic disorders during pregnancy. Indications, procedures, risks, advantages, and nursing implications of this procedure are defined and described.
openaire   +2 more sources

Image6_Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples.jpg

, 2023
Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters ...
He Wang (250350), Qinqin Li, He Wang, Shanling Liu (11257638), Xuemei Zhang (89768), Qinqin Li (2023468), Xijing Liu, Lili Zhang, Yueyue Xiong, Shanling Liu, Xuemei Zhang, Hongmei Zhu (105489), Xijing Liu (16021871), Lili Zhang (120447), Hongmei Zhu, Lingping Li, Yueyue Xiong (16021874), Lingping Li (5558414)   +17 more
core   +1 more source