Aneuploidies
- French health law on serum freezing impact on Immulite PAPP-A assay for trisomy 21 screening
- Implementation models of screening for aneuploidies
- Semi-automated measuring methods of nuchal translucency by TOSHIBA ultrasound units
- Clinical and cost effectiveness of prenatal diagnosis of chromosomal abnormalities in the Russian Federation
- Prenatal diagnosis of triploidy – experience of single referral centre
- Amniocentesis indications in patients below 35 years old
- Implementation of a contingent strategy for the screening of aneuploidies: two year experience
- A case of Klinefelter syndrome
- The association between assisted reproduction techniques and structural and chromosomal defects
- The impact of nuchal cord on ductus venosus assessment at 11 to 13+6 gestational weeks
- Screening for trisomy 21 in twin pregnancies in the first trimester
- A Schizencephaly Case Accompanied By Deletion of Chromosome 22q13. 32
- A case of trisomy 9
- Experience of a reference Fetal Medicine Service from Southern Brazil with pregnant women who underwent fetal karyotyping
- Fetal gender-adjusted PAPP-A and free b-hCG in euploid and aneuploid fetuses
- The role of ultrasound in early assessment of risk of miscarriage in aneuploid pregnancies
- Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach
- Assessment of stem markers and epigenetic environment in amniotic fluid in normal and abnormal fetuses
- A case of DiGeorge syndrome associated with a CNS malformation
- The impact of a two stage approach for first trimester Down syndrome screening
- Prevalence of fetal polymorphism in north western part of Turkey
- Evaluation compatibility of screening tests in first and second trimester with amniocentesis and pregnancy outcome
- Women’s preference after a high risk screening test result for fetal Down syndrome: Microarray vs. NIPT
- Two cases of de novo, interstitial duplications of 10q24. 32
- Procedure Related Fetal Loss Following Chorionic Villus Sampling After Screening For Down Syndrome
- Does increased hepatic artery flow in first trimester fetuses signal an adverse outcome
- Clinical significance of high risk result for trisomy 21 in triple test in the absence of aneuploidy
- Nitrous oxide decreases anxiety in women undergoing chorionic villus sampling
- Fetal triploidy with barely altered phenotype
- A case of prenatal diagnosis of Patau syndrome
- A case of an unexpected diagnosis of turner mosaicism
- Invasive tests and results in our area
- Relationship between chorionic villus sampling and placental pathology
- First trimester ultrasound assessmnet and congenital anomalies
- The changes in ultrasound findings on the central nervous system in fetus with chromosomal abnormality
- Variability of clinical manifestation in patients with Di George's syndrome
- BoBs: The application of the new rapid prenatal diagnosis technology research
- Small cerebellum and abnormal first trimester biochemistry in a pregnancy affected by 5p deletion syndrome
- Increased prevalence of bicuspid aortic valve in turner syndrome links with karyotype: a crucial importance of detailed cardiovascular screening
- Fetal karyotyping and CMA indicated for late onset abnormal sonographic findings are they really necessary?
- Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling
- 22q11 microdeletion: A review of ultrasound findings and the relation with diagnostic prenatal testing
- How safe is late amniocentesis preformed after 24 weeks of gestation?
- Does the magnitude of increased nuchal translucency affect the likelihood of chromosomal anomalies?
- Collagen type IV in the pathogenesis of increased prenasal thickness in Trisomy 21 fetuses
- Establishment of mass screening for aneuploidies by serum markers in the governorate of Bizerte, northern Tunisia
- Prenatal diagnosis using array comparative genomic hybridization analysis in high risk pregnancies
- Pregnancy outcome in amniocentesis and chorionic villous sampling: 10-year report
- New markers calculation of risk during screening ultrasound I trimester of pregnancy
- Computational Intelligent Screening for Chromosomal Abnormalities of the Fetus
- A case of 47, XYY in association with congenital anomalies in teenage couple
- Assessment of a rapid aneuploidy diagnosis by the BACs-on-Beads TM assay during late pregnancy