Objective To compare the effectiveness of a nuchal scan at 10 to 14 + 6 weeks and a detailed morphology scan at 12 to 14 + 6 weeks in screening for fetal structural abnormalities. November 2004, 8811 pregnant women were randomized into either the control group (10 to 14 + 6-week nuchal scan followed by routine 16-23-week scan) or the study group (10 to 14 + 6-week nuchal scan and 12 to 14 + 6-week detailed scan followed by routine 16-23-week scan). Methods From March 2001 to ResultsWe analyzed 7642 cases of singleton pregnancies with viable fetuses at first-trimester ultrasound examination and with known pregnancy outcome. In the control group, the detection rate of structural abnormalities in the first trimester was 32. 8% (21/64; 95% CI, and the overall detection rate was 64.1% (41/64; 95% CI,). In the study group, the detection rate in the first trimester was 47.6% (30/63; 95% CI,) and the overall detection rate was 66.7% (42/63; 95% CI,

ObjectiveTo evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong.MethodsArray CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addition 150 prenatal samples with abnormal fetal ultrasound findings found to have normal karyotypes were analyzed as a ‘further-test’ study using NimbleGen CGX-135K oligonucleotide arrays.ResultsArray CGH findings were concordant with conventional cytogenetic results with the exception of one case of triploidy. It was found in the first-tier test study that aCGH detected 20% (44/220) clinically significant copy number variants (CNV), of which 21 were common aneuploidies and 23 had other chromosomal imbalances. There were 3.2% (7/220) samples with CNVs detected by aCGH but not by conventional cytogenetics. In the ‘further-test’ study, the additional diagnostic yield of detecting chromosome imbalance was 6% (9/150). The overall detection for CNVs of unclear clinical significance was 2.7% (10/370) with 0.9% found to be de novo. Eleven loci of common CNVs were found in the local population.ConclusionWhole-genome aCGH offered a higher resolution diagnostic capacity than conventional karyotyping for prenatal diagnosis either as a first-tier test or as a ‘further-test’ for pregnancies with fetal ultrasound anomalies. We propose replacing conventional cytogenetics with aCGH for all pregnancies undergoing invasive diagnostic procedures after excluding common aneuploidies and triploidies by quantitative fluorescent PCR. Conventional cytogenetics can be reserved for visualization of clinically significant CNVs.

The use of IMDA did not affect the women's overall uptake rate of the prenatal screening test for Down syndrome. More women less than 35 years accepted IMDA probably because they used computer more frequently and had more computer knowledge.