Latest papers

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

De novo balanced chromosome rearrangements in prenatal diagnosis

[Advantages and limitations of chorionic villous sampling].

Prenatal diagnosis of chronic granulomatous disease in a male fetus.

Chorionic villus sampling and hemangiomas.

A novel method for extracting DNA from chorionic villus samples for use in CVS-PCR, which ensures complete villus dissociation.

[Prenatal molecular diagnosis of a DMD carrier female fetus by chorionic villus sampling and linkage analysis].

Evaluating the rate and risk factors for fetal loss after chorionic villus sampling.

The selective use of rapid aneuploidy screening in prenatal diagnosis.

Fetal chromosomal abnormalities: antenatal screening and diagnosis.

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

[Share with women. Prenatal tests for Down syndrome]

A new device to facilitate the chorion villus sampling.

Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.

Chorionic villus sampling: analysis of the first 350 singleton pregnancies by a single operator.

Distinctive pattern of first trimester maternal serum biochemical markers in trisomy 22 pregnancies.

Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.

Techniques for chorionic villus sampling and amniocentesis: a survey of practice in specialist UK centres.

Gene expression in chorionic villous samples at 11 weeks' gestation from women destined to develop preeclampsia.

Non-invasive first-trimester detection of paternal beta-globin gene mutations and polymorphisms as predictors of thalassemia risk at chorionic villous sampling.