Aneuploidies
- A case of early recurrent pregnancy loss caused by paternal translocation t(3;8)(q13;q24)
- A case of triploidy
- A case of triploidy and non invasive prenatal testing
- A case of trisomy 18 with isolated Rocker bottom foot
- A case of Turner’s Syndrome
- Absent/ hypoplastic nasal bone as an isolated marker at the 18 – 24 weeks’ scan
- Amniocentesis as a prenatal diagnostic method for detecting aneuploidies.
- Anxiety and invasive testing
- Assessment of multiple quantitative fluorescence PCR technique for common chromosome aneuploidies
- Challenges and Potentials in Prenatal Diagnosis of Genetic Disorders
- Chromosomal abnormalities in women having amniocentesis for increased maternal age
- Clinodactyly associated with Trisomy 21: A case report
- Combined use of cytogenetic and SNP array in prenatal diagnostics of chromosomal abnormalities
- Cytogenetic analysis of 1372 intellectually disabled children
- Ductus venosus pulsatility index in the screening protocol for trisomy 21 at 11-13 weeks
- Early amniocentesis vs. transabdominal chorionic villus sampling for prenatal diagnosis
- Evaluation of twelve years of combined screening for aneuploidies
- First trimester free-Beta-hCG and PAPP-A median correction factors for Mexican population
- Follow up assessment of absent nasal bone in the second trimester
- Genetic characterization of sixteen 46,XX males with disorders of sex development
- Implementation of first trimester combined testin a local practice
- Importance of isolated ultrasound markers at the 18 – 24 weeks’ scan
- Influence of first trimester biochemistry methodology on detection rate in screening for trisomy 21
- Isolated Ultrasound Marker in the First Trimester – Is Invasive Testing Justified?
- Methylation-specific quantitative real-time PCR in detection of fetal trisomy 21
- Nasal bone in screening for T21 at 11-13+6 weeks of gestation - a multicenter study
- New mixture models of markers for trisomies in the first trimester screening
- NT, free β-hCG and PAPP-A concentrations in IVF/ICSI pregnancies: meta-analysis
- Prenatal BACs-on-Beads in the detection of common chromosomal abnormalities and microdeletions
- Prenatal screening for chromosomal abnormalities in the period 2007-2016.
- Qualitative and quantitative ductus venosus flow assessment in screening for trisomy 18 and 13
- Quality control of nuchal translucency measurements in Hung Vuong hospital, Vietnam
- Reference range of fetal NT thickness in Iran
- Reference ranges for fetal nasal bone in screening for chromosomal abnormalities at 11-13 weeks
- Reference ranges for fetal prenasal thickness in screening for chromosomal abnormalities at 16-24 weeks
- Review of 1604 amniocentesis performed in the period 2007-2016
- Single umbilical artery, autosomal trisomies: First or second trimester detection?
- SLC25A13 genetic analysis and prenatal diagnosis of citrin deficiency in 20 families
- Subsequent trisomy 13 pregnancies of parents with normal karyotype
- The absence of nasal bones in the first trimester ultrasound scan in fetal trisomies
- The incidence of chromosomal anomalies in fetuses with bilateral pyelectasis
- Use of low pass whole genome sequencing in clinical cytogenetics, pathogenic cnv detection
- Women's knowledge and concerns about invasive prenatal testing