Results 1 to 10 of about 270,506 (297)

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies

Genetics Research, 2022
Objective. The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridization (FISH)/CNVplex analysis and further ...
Jin Wang, Danni Wang, Yan Yin, Yi Deng, Mengling Ye, Ping Wei, Zhuo Zhang, Chun Chen, Shengfang Qin, Xueyan Wang   +9 more
doaj   +1 more source

Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array

Molecular Cytogenetics, 2023
Background With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent.
Lili Zhou, Huanzheng Li, Chenyang Xu, Xueqin Xu, Zhaoke Zheng, Shaohua Tang   +5 more
doaj   +1 more source

Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations

Molecular Cytogenetics, 2020
Background The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis.
Chenyang Xu, Yanbao Xiang, Xueqin Xu, Lili Zhou, Huanzheng Li, Xueqin Dong, Shaohua Tang   +6 more
doaj   +1 more source

Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

Molecular Cytogenetics, 2021
Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis.
Lili Zhou, Zhaoke Zheng, Yunzhi Xu, Xiaoxiao Lv, Chenyang Xu, Xueqin Xu   +5 more
doaj   +1 more source

Sonographic measure techniques of fetal penile length [PDF]

Obstetrics & Gynecology Science, 2020
Postnatal penile length is a reliable, standardized, and widely used marker for the diagnosis of genitourinary pathology, as well as genetic and hormonal disorders.
Álvaro López Soto, Jose Luis Meseguer González, Rocío López-Perez, Mónica Lorente Fernández, Juan Martínez-Uriarte, Olivia García Izquierdo   +5 more
doaj   +1 more source

Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y

Molecular Cytogenetics, 2022
Background The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular ...
Yiqun He, Li Guo, Laiping Zheng, Congmian Ren, Ting Wang, Jian Lu   +5 more
doaj   +1 more source

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source

Maternal and Fetal Outcomes in Women with Diabetes in Pregnancy Treated before and after the Introduction of a Standardized Multidisciplinary Management Protocol

Journal of Diabetes Research, 2021
Background. Diabetes in pregnancy is associated with an increased risk to the woman and to the developing fetus. Currently, there is no consensus on the optimal management strategies for the follow-up and the timing of delivery of pregnancies affected by
Maddalena Morlando, Fabiana Savoia, Anna Conte, Antonio Schiattarella, Marco La Verde, Michela Petrizzo, Mauro Carpentieri, Carlo Capristo, Katherine Esposito, Nicola Colacurci   +9 more
doaj   +1 more source

Third trimester ultrasound. A long-standing debate

Taiwanese Journal of Obstetrics & Gynecology, 2021
Third trimester ultrasound has long been in obstetrics a topic of debate. This issue is framed in a historical debate on the effectiveness of routine obstetrical ultrasound and two opposing trends originated in America and Europe, respectively.
Álvaro López Soto, María Velasco Martínez, Jose Luis Meseguer González, Rocío López Pérez   +3 more
doaj   +1 more source

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports

Molecular Cytogenetics, 2020
Background Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology.
Yiming Qi, Jiexia Yang, Yaping Hou, Rong Hu, Dongmei Wang, Haishan Peng, Aihua Yin   +6 more
doaj   +1 more source