Results 21 to 30 of about 7,342 (136)

Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series

International Journal of Reproductive BioMedicine, 2022
Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth.
Maryam Hassanlou, Maryam Abiri, Sirous Zeinali   +2 more
doaj   +1 more source

CYTOGENETIC PRENATAL DIAGNOSIS ON 66 CHORIONIC VILLUS SAMPLES IN IRAN [PDF]

Iranian Journal of Public Health, 1992
A total number of 66 chorionic villus samples were cytogenetically investigated. The samples consisted of 30 experimental cvs from spontaneously aborted materialand 36 from live gestations.80% of the samples were successfully grown, of the 30 cases 40 ...
P. Mehdipour
doaj   +2 more sources

Surgical treatment of a patient with placentoid transformation of the lower lobe of the right lung

Вестник хирургии имени И.И. Грекова, 2021
Placentoid transformation (in English publications – placental transmogrification) extremely rare lung disease, characterized by formation of villous structures, which look like chorionic villus with pulmonary emphysema. We report the first case of 28 y.
S. A. Eskov, V. V. Erokhov, A. M. Dziadzko, A. F. Minov, O. Iu. Gurova, O. A. Iudina, R. V. Kashanskii, E. I. Davidovskaia, O. O. Rummo   +8 more
doaj   +1 more source

Generation of Trophoblast Organoids from Chorionic Villus Sampling

Organoids
Studying human placental development and function presents significant challenges due to the inherent difficulties in obtaining and maintaining placental tissue throughout the course of an ongoing pregnancy.
Bas van Rijn, Diane Van Opstal, Nicole van Koetsveld, Maarten Knapen, Joost Gribnau, Olivier Schäffers   +5 more
doaj   +1 more source

Correlation Between Transabdominal Chorionic Villus Sampling and Fetal Distress With Color Doppler Sonography

Acta Medica Iranica, 2020
Chorionic villus sampling (CVS) is an invasive method for identifying genetic and metabolic diseases, which is done in the first trimester of pregnancy and can cause many complications.
Nazanin Farshchian, Mozhdeh Hajsafarali, Negin Farshchian, Parisa Bahrami Kamangar   +3 more
doaj   +1 more source

Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere

Molecular Cytogenetics, 2023
In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis ...
Liselot van der Laan, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens, Angelique J. A. Kooper   +4 more
doaj   +1 more source

Neutralizing Antibodies to Human Cytomegalovirus Recombinant Proteins Reduce Infection in an Ex Vivo Model of Developing Human Placentas

Vaccines, 2022
Human cytomegalovirus (HCMV) is the leading viral cause of congenital disease and permanent birth defects worldwide. Although the development of an effective vaccine is a public health priority, no vaccines are approved. Among the major antigenic targets
Takako Tabata, Matthew Petitt, Julia Li, Xiaoyuan Chi, Wei Chen, Irina Yurgelonis, Sabine Wellnitz, Simon Bredl, Tiago Vicente, Xinzhen Yang, Philip R. Dormitzer, Lenore Pereira   +11 more
doaj   +1 more source

Screening significantly hypermethylated genes in fetal tissues compared with maternal blood using a methylated-CpG island recovery assay-based microarray

BMC Medical Genomics, 2012
Background The noninvasive prenatal diagnosis procedures that are currently used to detect genetic diseases do not achieve desirable levels of sensitivity and specificity.
Yin Aihua, Zhang Xiangzhong, Wu Jing, Du Li, He Tianwen, Zhang Xiaozhuang   +5 more
doaj   +1 more source

Comparison of Complications of Chorionic Villus Sampling and Amniocentesis [PDF]

International Journal of Fertility and Sterility, 2012
Background A significant number of pregnancies are associated with the cytogenetic abnormalities of the fetus. Amniocentesis and chorionic villus sampling (CVS) are procedures used for prenatal genetic diagnosis.
Nahid Shahbazian, Mojgan Barati, Parvin Arian, Najmie Saadati   +3 more
doaj  

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