Prenatal Diagnosis
Prenatal diagnosis of ventricular septal defect and trisomy 7q11.23q21.3 in two fetuses: A case report
Authors: Kai Mu, Li-Sha Chen, Juan Wen, Yi Liu, Na Liu, Dong-Hua Cao
The objective of prenatal diagnosis (PD) is to provide prenatal diagnostic testing services for genetic conditions that enable families to make informed choices consistent with their individual needs and values, and to support them in deal with the outcome of such testing. This case we reported is about two fetuses with ventri.. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039878
- DOI:
- 10.4238/gmr16039878
Validation of quantitative fluorescent-PCR for rapid prenatal diagnosis of common aneuploidies in the Chinese population
Authors: A.-Q. Xu, M. Xia, J.-T. Liu, F.-X. Yao, W.-M. Zhang, N. Hao, J. Zhou and X.-M. Bian
Quantitative fluorescent polymerase chain reaction (QF-PCR) is an accurate and reliable method for rapid detection of aneuploidy; however, it is not routinely used in China. We aimed to validate QF-PCR as a means for prenatal common aneuploidy screening and to analyze the heterozygosities of short tandem repeat (STR) markers in the Chinese population. The.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.December.9.1
- DOI:
- 10.4238/2013.December.9.1
Infertility caused by male partners with genetic defects in Sichuan Province of China
Authors: Q. Quan, T.J. Li, X.P. Ding, J. Wei, L.X. Li and L. Fu
The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was .. Read More»
- Genet. Mol. Res. 12(4):
- 2013.December.11.2
- DOI:
- 10.4238/2013.December.11.2
Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease
Authors: Y. Lv, L.H. Cao2, H. Pang, L.N. Lu, J.L. Li, Y. Fu, S.L. Qi4, Y. Luo and J. Li-Ling
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder characterized by nystagmus, impaired motor development, ataxia, and progressive spasticity. Genetically defective or altered levels of proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been found to be a common cause. Here we report on.. Read More»
- Genet. Mol. Res. 11(3):
- 2012.August.6.7
- DOI:
- 10.4238/2012.August.6.7
Prenatal diagnosis of Chinese families with phenylketonuria
Authors: N. Liu1, X.D. Kong1, D.H. Zhao2, Q.H. Wu1, X.L. Li2, H.F. Guo4, L.X. Cui4,M. Jiang1 and H.R. Shi3
The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons an.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.25
- DOI:
- 10.4238/2015.November.18.25
Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases
Authors: N. An, L.L. Li, R.X. Wang, L.L. Li, J.M. Yue and R.Z. Liu
The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal di.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.18
- DOI:
- 10.4238/2015.December.1.18
A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract
Authors: X.D. Kong, N. Liu, H.R. Shi, J.M. Dong, Z.H. Zhao, J. Liu,J. Li-Ling and Y.X. Yang
Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.16
- DOI:
- 10.4238/2015.January.23.16
Detection of fetal RHD pseudogene (RHDΨ) and hybrid RHD-CE-Ds from RHD-negative pregnant women with a free DNA fetal kit
Authors: T. Gunel, I. Kalelioglu, A. Gedikbasi, H. Ermis and K. Aydinli
Hemolytic disease of the newborn is a clinical condition in which maternal and paternal Rh blood group antigens are incompatible and the mother is negative for the antigen whereas the father is positive. Analysis of fetal cells recovered from maternal plasma can provide a highly sensitive prenatal diagnosis. The fetal RHD gene.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.October.26.1
- DOI:
- 10.4238/2011.October.26.1
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report
Authors: D.H. Cao, K. Mu, D.N. Liu, J.L. Sun, X.Z. Bai, N. Zhang, G.B. Qiu and X.W. Ma
Birth defects are structural and/or functional malformations present at birth that cause physical or mental disability and are important public health problems. Our study was aimed at genetic analysis and prenatal diagnosis of congenital anomalies to understand the cause of certain birth defects. Karyotypes and array-comparative genomic hybridization (aCG.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.11.8
- DOI:
- 10.4238/2015.May.11.8
Serum microRNA expression in pregnancies with preeclampsia
Authors: T. Gunel, Y.G. Zeybek, P. Akçakaya, I. Kalelioğlu, A. Benian, H. Ermis and K. Aydınlı
Preeclampsia continues to be a mortal disease of pregnant women throughout the world. Recently, geneticists, allied with obstetricians, have opened new frontiers. MicroRNAs (miRNAs) are members of a class of small, noncoding RNA molecules. They are critical posttranscriptional regulators of gene expression. We extracted circul.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.November.8.5
- DOI:
- 10.4238/2011.November.8.5