3 results match your criteria: "Dell Medical School-UT Health Austin[Affiliation]"

Article Synopsis
  • Several European countries successfully integrated this method into their routine prenatal care, while it has recently been adopted by two U.S. companies using next-gen sequencing technology.
  • With a current shortage of RhoGAM, there’s a push to use these reliable DNA assays in the U.S. to optimize the use of Rhesus immune globulin for RhD-negative pregnant women.
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In the setting of a normal first-trimester ultrasound, an amniocentesis may be a better option than chorionic villous sampling for invasive diagnostic testing after a cell-free DNA high risk for trisomy 13, given the high rates of confined placental mosaicism. In unaffected fetuses, other evaluations should be considered depending on the cell-free DNA results, including maternal karyotyping for monosomy X, uniparental disomy testing for chromosomes with imprinted genes, serial growth scans for trisomy 16, and a workup for maternal malignancy for multiple aneuploidies or autosomal monosomy.

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Objective: To increase the clinical awareness of the need for genetic evaluation for congenital myotonic dystrophy (CDM1) in cases of fetal akinesia sequence and idiopathic polyhydramnios.

Methods: Retrospective case review.

Results: A 27 y.

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