Maternal serum AMH level, as a marker of ovarian age, is not superior to chronological age in predicting Down syndrome pregnancies. Despite the cross-sectional nature of our study, the variation of maternal serum AMH concentration with gestational age warrants further investigation.

Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose‐6‐phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose‐6‐phosphatase in both fresh and detergent‐treated liver homogenates. This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morbidity of fetal liver biopsy. Recently, the gene for GSD1b has been cloned and the prevalent mutations in different ethnic groups have been determined. In this study, prenatal molecular diagnosis was performed for a Chinese family in which a previous child was born homozygous for the G149E mutation. We detected genomic sequence variants by heteroduplex formation, followed by denaturing high performance liquid chromatography (DHPLC). With this method, post‐PCR analysis was shortened to 7 min. In the case we analysed, PCR products amplified from the fetal DNA yielded a single peak in the chromatogram, indicating a homozygous state in the fetus. When wild‐type PCR products were mixed with fetal PCR products, two peaks were observed, indicating that the fetus was homozygous for the parental (G149E) mutation. Sequencing results confirmed this diagnosis. As a result, the pregnancy was terminated and the diagnosis was confirmed on DNA analysis of the aborted fetus. We show here that DNA mutation analysis can be used in the prenatal diagnosis of GSD1b and that DHPLC promises to be a robust technique for this and other prenatal molecular diagnoses. Copyright © 2000 John Wiley & Sons, Ltd.

Objectives: To examine the effect of rapid aneuploidy testing by amnio-PCR on anxiety levels and quality of life measures in women and their partners with positive Down screening result. Methods: In the original design, screen-positive women were to be randomized to have amnio-PCR or not. Of the first 60 women approached to join the study between April 2004 and April 2005, 4 declined amniocentesis, 14 agreed to be randomized, while the other 42 (75%) chose to pay for the amnio-PCR themselves (3 excluded: 2 because of Down syndrome and 1 dropout). The study was thus performed as a prospective observational study on the remaining 39 women of the last group. The longitudinal profile of the state-anxiety and quality of life domain scores for this cohort were studied using the Spielberger State-Trait Anxiety Inventory and WHO Quality of Life Measure – abbreviated version (Hong Kong) Questionnaire at 5 time points: (1) before amniocentesis, (2) 2 days after amniocentesis when amnio-PCR report was disclosed, (3) 3 weeks after amniocentesis when karyotyping report was disclosed, (4) 30–32 weeks’ gestation, (5) 6 weeks after delivery. Results: In the final cohort of 39 women and 27 partners, a significant reduction in their state-anxiety scores was found when they received the normal amnio-PCR report. On the other hand, there was no significant change in their quality of life domain scores. Conclusions: There is a demand from women and their partners who had a positive Down screening result for rapid aneuploidy testing (amnio-PCR) which can effectively alleviate their anxiety. A rapid aneuploidy test should be made available to women in a Down screening programme.