Value of second-time invasive prenatal diagnosis in the current circumstances / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the safety of repeated invasive prenatal diagnosis primarily due to failed culture of amniotic cells.</p><p><b>METHODS</b>Between January 2000 and October 2012, 167 cases required repeated invasive prenatal diagnosis among a total of 5304 amniocentesis cases. Clinical outcome and karyotypes were analyzed to calculate the rate of fetal loss.</p><p><b>RESULTS</b>For the 167 re-sampled cases, the indications have included failed amniocyte culture (121 cases), chromosome mosaicisms (23 cases), failed amniocentesis (21 cases), and request for confirmation (2 cases). No fetal loss has occurred. All samples were cultured successfully. Fourteen cases (8.38%) have been found with an abnormal karyotype. Four mosaic trisomic cases (2 mosaic trisomy 16, 1 mosaic trisomy 20, and 1 mosaic trisomy 8) were verified to be normal.</p><p><b>CONCLUSION</b>Repeated invasive prenatal diagnosis does not increase the rate of fetal loss. It can be recommended to cases with failed amniocyte culture. Caution should be undertaken when counseling prenatally detected mosaicism trisomies.</p>