Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.

The objective of this study was to examine the suitability of multiplex ligation-dependent probe amplification (MLPA) in chorionic villus samples as a replacement for traditional karyotyping for the detection of (an)euploidies of chromosomes 21, 18, 13, X, and Y. Chorionic villus samples were diagnosed by traditional karyotyping using short-term cultures (STC) and long-term cultures (LTC), and by MLPA using kit P095. DNA was extracted after digestion of whole villi with proteinase K and/or trypsin and collagenase. Different cell-dissociation procedures were tested to obtain MLPA results representative of the cytotrophoblast layer and the mesenchymal core. Over 95% of the MLPA results were in concordance with the traditional karyotyping of STC and LTC. Traditional karyotyping revealed seven mosaics. After digestion of whole villi with proteinase K, only abnormal cell lines confined to the STC gave rise to abnormal MLPA results. In one sample, the complete discrepancy between STC and LTC was resolved after enzymatic dissociation of cells from the cytotrophoblast layer and the mesenchymal core. MLPA in chorionic villus samples was found to be a reliable test for the detection of (an)euploidies of chromosomes 21, 18, 13, X, and Y. Whole villi digestion with proteinase K resulted in the over-representation of cytotrophoblasts in the DNA pool. To obtain MLPA results representative for STC and LTC, enzymatic dissociation of cells from the cytotrophoblast layer and mesenchymal core is required.

[Termination of pregnancy in the 2nd trimester: mifepriston/misoprostol preferable to sulprostone]. / Zwangerschapsafbreking in het 2e trimester: liever mifepriston-misoprostol dan sulproston.

OBJECTIVE: To compare the efficacy of sulprostone and mifepristone/misoprostol when used for termination of pregnancy (TOP) in the 2nd trimester. DESIGN: Comparative retrospective cohort study. METHOD: Data were collected on all women whose pregnancies were terminated in the 2nd trimester, in the presence of severe fetal defects, between 1996 and 2007 at the Radboud University Nijmegen Medical Centre, the Netherlands. From the start of 1996 until the end of 2001 TOPs were performed using sulprostone. In 2001 the treatment was switched to the combination mifepristone/misoprostol. The primary outcome measure was the time interval between the initiation of prostaglandin medication and the birth of the infant. RESULTS: 158 patients met the inclusion criteria: 51 women were treated with sulprostone, 107 women with mifepriston/misoprostol. The duration of treatment in the mifepristone/misoprostol group (median 8.7 hours, range: 1.1-72.0 hours) was significantly shorter than in the sulprostone group (median 21.3 hours, range: 7.8-265.0 hours). In the mifepristone/misoprostol group significantly more women (94%) delivered within 24 hours than in the sulprostone group (55%). In the mifepristone/misoprostol group anti-emetics and pain relief were given significantly less often than in the sulprostone group 5 versus 12% and 54 versus 90%, respectively). There was no statistically significant difference in the number of women with post partum blood loss (6 versus 6%), (suspected) placental remnants (33 versus 43%) or fever (12 versus 4%). CONCLUSION: In termination of pregnancy in the 2nd trimester mifepristone/misoprostol was more effective than sulprostone. Given the disadvantages of sulprostone in comparison with mifepristone/misoprostol, sulprostone no longer deserves a place in termination of pregnancy in the 2nd trimester.

Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects.

OBJECTIVES: Introduction of the second-trimester fetal anomaly scan and the decision to offer this scan to every woman in the 18th-22nd week of pregnancy necessitates a re-evaluation of the diagnostic value of the measurement of alpha-fetoprotein (AFP) concentrations in the amniotic fluid (AF) for the detection of neural tube defects (NTDs). METHODS: In this study of 6501 women who underwent amniocentesis, amniotic fluid AFP (AFAFP) concentrations were measured. The women were divided into three categories: group I, without any increased risk of fetal NTD (N = 6188); group II, with an increased risk of fetal NTD (N = 258); and group III, with a clinically diagnosed fetal NTD with known AFAFP concentrations (N = 55). RESULTS: In 27 women of group I (0.4%), the MoM (multiple of the median) level was > 2.5 times the median AFP concentration for the corresponding gestational age, and in two fetuses this was related to NTD. In two pregnancies of group II (0.8%), an increased AFAFP was related to NTD. In group III, 44 of the 55 (80%) samples had an increased AFAFP. CONCLUSION: In the near future, it is likely that imaging will replace AFAFP assays for the detection of fetal NTDs because high quality ultrasound imaging will detect NTDs accurately.