Reflex DNA screening avoided up to 530 invasive diagnostic tests compared with using the combined test.Reflex DNA screening was successfully implemented in routine care, achieving a high detection rate, low false-positive rate, and, consequently, greater safety with fewer invasive diagnostic tests than...
Comparing first trimester screening performance: routine care gynaecologists' practices vs. prenatal centre. OBJECTIVE: To evaluate and compare the screening performance for fetal trisomy 21 in the first trimester of pregnancy in general gynaecologists' practices ... P Kozlowski,Knippel, A,R Stressig ...
Screening for trisomy 21 (T21) or Down syndrome (DS) (MIM: 190685) is universally offered as part of routine obstetric care in most developed countries. With the implementation of cell-free DNA sequencing of maternal plasma, the positive predictive values are on the order of 80% in the gene...
The most common aneuploidy-associated syndromes are: Down syndrome caused by trisomy 21 (T21), Patau syndrome, caused by trisomy 13 (T13), and Edwards syndrome, caused by trisomy 18 (T18) (4). Nuchal translucency (NT) thickness is an established method for the prediction of all three disea...
Patients with large 18q duplications (which may arise from parental translocations/inversions) or "partial trisomy 18" could benefit from the same routine ultrasonographic screening for Wilms tumor as those with full trisomy 18, because early detection is essential to optimizing survival. [37] Psych...
It is not routine to karyotype parents of girls with 47,XXX as recurrence risk is estimated to be <1% [66–68]. Similar to other aneuploidies, a significant maternal age effect has been demonstrated with an increasing risk specific to trisomy X of 1/2500 live births at a maternal age of...
The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT ...
No risk score was calculated for trisomy 18 or 13, as this is not routine practice in France. For each patient, all laboratory and ultrasound reports (usually first, second, and third trimester, according to French recommendations), invasive procedures (if performed), cytogenetic testing reports,...
It is not routine to karyotype parents of girls with 47,XXX as recurrence risk is estimated to be <1% [66–68]. Similar to other aneuploidies, a significant maternal age effect has been demonstrated with an increasing risk specific to trisomy X of 1/2500 live births at a maternal age of...
It is not routine to karyotype parents of girls with 47,XXX as recurrence risk is estimated to be <1% [66–68]. Similar to other aneuploidies, a significant maternal age effect has been demonstrated with an increasing risk specific to trisomy X of 1/2500 live births at a maternal age of...