Aneuploidies
- How a-CGH can help the diagnosis in the first trimester
- Outcome of fetuses with increased nuchal translucency in the first trimester
- Maternal plasma and amniotic fluid sphingolipids profiling in fetal Down syndrome
- First-trimester combined screening for trisomy 21 in women with renal disease
- A Canadian provincial approach to performance evaluation and quality assurance of prenatal screening
- Earlier gestations increase the risk of screen positive quadruple test result
- Should we perform invasive procedures in patients with risk for trisomies 21 and/or 18 between 1/100 and 1/270?
- Screening for Down syndrome
- First trimester screening and audit in Mexico: The CEMAFE Clinic & Laboratory experience
- Significance of sonographic soft markers of fetal aneuploidy in day to day practice
- Outcomes of cases with increased fetal NT in the Krasnodar region
- A case of prenatal detection of trisomy 13
- A case of trisomy 15 detected in paraffin-embedded villous tissue
- Analysis on the indications of invasive prenatal diagnosis in 1624 cases correlated to fetal chromosomal abnormality
- Prenatal high resolution array CGH in fetuses with ultrasound anomalies in first trimester screening
- Neural tube defects as markers for trisomy 18
- Is maternal age a risk factor for abnormal fetal chromosomes?
- Typical structural abnormalities of trisomy 13 detectable by ultrasound during first trimester screening
- False-negative results in routine combined first-trimester screening for Down syndrome in Catalonia
- First trimester combined prenatal screening: evaluation of nine years as FMF certified laboratory
- External quality assurance and performance assessment of prenatal screening in Ontario – a new reporting tool
- Comparison of efficacy of detection of trisomy 21, depending on the PAPP-A test
- Determinants of parents’ decisions before and after prenatal testing for Down’s syndrome
- Maternal plasma and amniotic fluid chemokines screening in fetal Down syndrome
- Comparison of national Downs screening uptake, results, and outcomes to those in a district general hospital
- Rate of karyotype aberrations in pregnancies conceived by ART
- A decade of NT based first trimester screening and the subsequent pregnancy outcomes
- The unprecedented recurrence of mosaic conjunction of tetraploidy and trisomy 18
- Postnatal outcomes following prenatal diagnosis of mosaicism: a systematic review of literature
- Prenatal diagnosis of aneuploidies in the Amur region using an electronic patient referral system
- Screening for chromosomal anomalies – are we doing more for less?
- Mosaic double trisomy: Down's syndrome and XYY
- Placental phenotype differences between XmO and XpO in Turner Syndrome