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- Placental mosaicism for autosomal trisomies: comprehensive . . .
OBJECTIVE: To estimate the risk of fetal involvement or adverse pregnancy outcomes for speci fic chromosomes after detecting mosaicism for an autosomal trisomy in a CVS and identify high (red), intermediate (yellow), and low (green) risk chromosomes
- Prenatal diagnosis of mosaic trisomy 12 associated with . . .
The present case provides evidence that in mosaic trisomy 12 at amnio-centesis, the level of mosaic trisomy 12 in uncultured amnio-cytes correlates well with that in uncultured urinary cells A peculiar aspect of the present case is the association of mosaic trisomy 12 with fetal overgrowth
- Mosaic trisomy 12 diagnosed in a female patient: clinical . . .
In several cases, trisomy 12 mosaicism was detected prenatally in amnion fluid, but not postnatally [5–8] Even if the mosai-cism is not confirmed in one tissue, it may still be present in other tissues of the child
- Mosaic trisomy 12 A case of a rare phenotypic association and . . .
We report a patient with trisomy 12 mosaicism who presented with dysmorphic facial features, congenital anomalies, and developmental delay The mosaicism was confirmed only after extensive postnatal workup using different genetic testing methodologies
- Mosaic trisomy 12 at amniocentesis: Prenatal diagnosis and . . .
Interphase FISH and aCGH on uncultured amniocytes are useful for rapid confirmation of low-level trisomy 12 mosaicism at repeated amniocentesis
- SFM Fetal Therapy Practice Guidelines: Fetal Tissue Biopsy
Chromosomal abnormalities or enzyme defects can be detected by amniocentesis or chorionic villous sam-pling in a few of such cases; however, in the majority of such cases with inheritable genodermatoses, prenatal diagnosis could be done by histologic and ultrastructural studies of fetal skin biopsy in utero 1 Also, ultrasound is not always
- Clinical impacts of genome-wide noninvasive prenatal testing . . .
Cases that were consistently deter-mined to be mosaic trisomy after 1 or 2 tests were considered to be true fetal mosaicism (TFM) Maternal leukocytes were isolated from maternal blood and used to investigate maternal mosaicism of trisomy via genome sequencing
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