Aneuploidies
- A case of aortic coarctation and atrioventricular septal defect in Down's syndrome
- A case of partial hydatidiform mole
- A case of Tuner syndrome with massive cystic hygroma
- A comparison of first-trimester ultrasound findings with results of invasive genetic testing
- A cost-effectiveness analysis of prenatal screening for aneuploidies
- A new molecular work-up in chorionic villi for early pregnancy losses
- Acceptability and utilities of microarray testing for all invasive prenatal testing
- Analysis of fetal results from fetal genetic invasive procedures
- Biotin interference with first trimester biochemical markers for fetal aneuploidies
- Changing indications and diagnostic yield of invasive testing in an era of improved prenatal aneuploidy screening
- Clinical experience of SNP-array and karyotyping for prenatal diagnosis
- Comparison of the course of two pregnancies with a high risk first trimester screening
- Decrease of prenataly detected chromosomal aberrations due to decrease of invasive procedures
- Early amniocentesis versus transabdominal chorionic villus sampling for prenatal diagnosis
- Early and late chorionic villus sampling in Zagreb: Experience with 15, 555 cases
- Effectiveness of quantitative and qualitative Ductus Venosus blood flow assessment in screening for Trisomy 18 and 13
- Efffectiveness of Prenatal Testing For Down Syndrome
- Evaluation of prenatal screening performance in 140,000 pregnancies: the power of registry data in a publicly-funded system
- Evolution of 23 newborns with first trimester combined screening for aneuploidies risk ≥1: 10 and normal genetic result
- Exome sequencing improves the genetic diagnosis in fetuses with increased nuchal translucency
- Extracardiac defects and markers on the prevalence of aneuploidies in fetuses with congenital cardiac defects
- Femur length z score vs biparietal diameter-to-femur length ratio in screening for Down's syndrome
- Fetal ear assessment at the 15 - 24 weeks’ scan in euploid singleton fetuses in Indian population
- First trimester combined screening for fetal aneuploidies in our hospital in Cordoba
- First trimester low PAPP-A (≤ 0. 2 MoM) and risk of structural abnormalities in euploid fetuses
- First trimester markers in fetuses with aneuploidies
- Frst trimester diagnosis of cystic hygromata by transvaginal ultrasound and cytogenetic evaluation
- Outcome of fetal increased nuchal traslucency in our hospital in Córdoba
- Pathogenic CNVs and Noonan Syndrome in fetuses with increased nuchal translucency
- Prenatal Diagnosis of a fetus with 1q22 microdeletion included ASH1L gene in an intellectually disabled family
- Prenatal diagnostics in Moscow
- Prenatal screening for aneuploidies
- Prenatal sonographic features can accurately determine parental origin in triploid pregnancies
- Prospective analysis of false positive rates in screening for aneuploidies
- Review of invasive testings performed in our hospital
- Risk calculation of chromosomal abnormality in early fetal growth restriction
- Role of “genetic evaluation” in the index pregnancy in the management of subsequent pregnancy
- Significance of Isolated Absent Nasal Bone in 2nd trimester in predicting trisomy 21
- Teaching amniocentesis through simulation: a cheap, clean and easy to make simulation model