Comparison of Microarray-Based Detection Rates for Cytogenetic Abnormalities in Prenatal and Neonatal Specimens

Abstract

The mechanisms underlying cervical insufficiency, a cause of spontaneous second-trimester abortion and early preterm birth, remain poorly understood. There is, however, evidence that amniotic fluid (AF) infection is a key factor in pregnancy outcomes and postoperative complications. This study was an attempt to determine the frequency and clinical importance of intraamniotic inflammation in 52 patients with acute cervical insufficiency, defined as cervical dilation of 1.5 cm or more. The patients, seen at 17 to 29 weeks' gestation, had intact membranes, and were not having regular uterine connections. AF samples were cultured for aerobic and anaerobic bacteria and genital mycoplasmas, and assayed for matrix metalloproteinase-8; a level exceeding 23 ng/mL was deemed to represent the presence of intraamniotic inflammation.Intraamniotic inflammation was present in 42 of the 52 study patients (81%), and 4 patients (8%) had a positive AF culture. All culture-positive patients had intraamniotic inflammation. Among patients with intraamniotic inflammation but not AF infection, preterm delivery occurred within 7 days in 50%, and delivery before 34 weeks gestation, in 84%. More than half of newborn infants (55%) whose mothers had inflammation but not infection died within 24 hours of birth. The presence of intraamniotic inflammation was associated with a shorter interval between amniocentesis to delivery. The risk of an adverse pregnancy outcome did not differ between patients with intraamniotic inflammation and a negative culture on the one hand and, on the other, between those with confirmed AF infection. Fetal morbidity was not substantially altered by cesarean delivery.Whether the AF is culture-positive, a large majority of patients with acute cervical insufficiency have intraamniotic inflammation, and this is a risk factor for both preterm delivery and adverse pregnancy outcomes. ABSTRACTShoulder dystocia is an uncommon event that is largely unpredictable, and that may cause serious morbidity in both the mother and infant. Brachial plexus injury may be worsened by inappropriate treatment. This retrospective observational study compared the management and outcome of births complicated by shoulder dystocia before and after introducing 1 day of training that utilized a prototype shoulder dystocia training mannequin. Training included risk factors, recognition, documentation, helpful maneuvers, and a simulated shoulder dystocia scenario.A total of 15,908 pretraining births were compared with 13,117 taking place after the introduction of training. Rates of shoulder dystocia were similar: 2.04% in the pretraining group and 2.00% in the posttraining group. Before training, none of the several maneuvers recommended for the resolution of shoulder dystocia (including McRoberts' position, suprapubic pressure, internal rotation, delivery of the posterior arm, and the All-Fours-Maneuvers) were utilized in half or more of the affected infants. After training, in contrast, at least 1 of the recommended maneuvers was utilized in mor...

Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances

“…There was a decrease in the number of uncertain cases from the Sahoo et al (2006) study [30] to the Shaffer et al (2008) study [31]. Besides differences in the design of the platforms, this may also reflect more experience gained from analysis of more postnatal cases.…”

“…These include a validation study with 51 samples [28], and 580 samples (AF and CVS) in four prospective studies [29][30][31][32]. The first published study was a validation study using cultured amniocytes from 21 samples on a targeted BAC array (otherwise, ∼ 10 Mb resolution) and on an array with a 1 Mb resolution (but not targeted for all microdeletion/microduplication syndromes or pericentromeric or subtelomeric regions) [28].…”

“…Shaffer et al [31] prospectively analyzed 151 prenatal samples (132 AF and 19 CVS) on a targeted BAC array with 1083 clones or 367 contigs. All samples had previously had normal cytogenetic results.…”

Copy-number changes in prenatal diagnosis

“…For the remaining 16 cases (34.8%), parental testing was offered for better interpretation. Subsequently, using a targeted clinical array, Shaffer Review et al reported two clinically significant changes by aCGH in 151 prenatal cases (1.3%) undergoing genetic testing for a variety of prenatal indications [84]. Coppinger et al compared the results from 182 cases analyzed on whole-genome BAC and oligonucleotide arrays to those of 62 cases analyzed on targeted BAC arrays.…”

Les nouvelles technologies d’analyse du génome : quelles utilisations en diagnostic prénatal

“…Les résultats préliminaires sont très contradictoires avec des taux d'anomalies variant de 2 à 50 %, selon que les aneuploïdies avaient ou non été exclues de l'étude, ou selon qu'il y avait ou non la présence de signes d'appel échographiques [41][42][43][44]. Ces études ont été réalisées soit sur liquide amniotique natif [45] soit après culture cellulaire.…”