Results 101 to 110 of about 2,246,140 (208)
Chorionic Villus Sampling in cytogenetic analysis – disadvantages and advantages [PDF]
Chorionic villus sampling is used in prenatal diagnosis, enabling to detect fetal genetic abnormalities. Its advantages include the possibility of performing the procedure during the first trimester of pregnancy, relatively fast result, risk of ...
Kania, Agnieszka +6 more
core
Implementing an Altruistic Sperm Donation Program in Canada [PDF]
Blyth, Eric
core +3 more sources
ABSTRACT A prenatal diagnosis of Turner syndrome (TS) presents expectant parents with complex and emotionally demanding decisions under conditions of uncertainty. However, there is limited insight into how parents interpret and integrate medical information, personal experiences, and values during this process.
Inger Lily Hjuler Dorf +5 more
wiley +1 more source
In this prenatal cohort, 16p13.11 microduplication was associated with variable outcomes and incomplete penetrance. Most live‐born children showed mild or no abnormalities, highlighting the need for cautious interpretation and individualized genetic counseling.
Xiaoxiao Lv +8 more
wiley +1 more source
Hemophilia A (HA) is an X-linked recessive disorder caused by mutations in the factor VIII ( FVIII ) gene leading to deficient blood coagulation. The current standard of care is frequent infusions of plasma-derived FVIII or recombinant B-domain-deleted ...
Priyadarsini Kumar +6 more
doaj +1 more source
ABSTRACT Objective Prenatal cell‐free DNA screening is widely used to assess the risk of fetal trisomy 21, 18, and 13. Although commercial and laboratory‐developed tests (LDTs) show high accuracy in validation studies, real‐world longitudinal performance data are lacking.
Armelle Duquenne +34 more
wiley +1 more source
Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening.
openaire +2 more sources
Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett +11 more
wiley +1 more source
First Report of Atopobium vaginae Bacteremia with Fetal Loss after Chorionic Villus Sampling
Infectious complications after chorionic villus sampling (CVS) are rare (<0.1%) but can lead to maternal sepsis and spontaneous abortion. We report the first bacteremia with Atopobium vaginae and suggest A. vaginae
Lisa E. E. L. O. Lashley +9 more
core +1 more source
Mosaic trisomy 5 in amniotic fluid in a live fetus with Ebstein anomaly and complete trisomy 5 in chorionic villus sampling. [PDF]
Andrade A +3 more
europepmc +1 more source

