Comparative audit of booking and mid-trimester ultrasound scans in the prenatal diagnosis of congenital anomalies

During 1988 and 1989, 3565 women booked under consultants who performed an ultrasound scan at booking, whilst 4984 booked under consultants who performed a formal mid-trimester scan between 16 and 18 weeks. All significant anomalies diagnosed prenatally and in the neonatal period were recorded, the incidence in each group being 12.9/1000 and 9.83/1000, respectively (NS). The sensitivity of diagnosis before 20 weeks was 45 per cent in the ‘mid-trimester’ group (kappa 0.62) compared with 30 per cent in the ‘booking’ group (kappa 0.46), overall sensitivity of prenatal diagnosis, however, being similar in both groups (63 vs. 65 per cent, kappa 0.77 vs. 0.79). Cardiac anomalies were the single largest group which were not detected equally prenatally in both groups. This study shows that formal mid-trimester scanning leads to anomalies being detected significantly earlier in the antenatal period. Although not statistically significant, three lethal anomalies were missed prenatally in the ‘booking’ group which we would have expected to diagnose on a mid-trimester scan. These figures are discussed in the light of previous reports.     

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements

We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes. Copyright © 2002 John Wiley & Sons, Ltd.     

Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

A case of confined placental mosaicism (CPM) and maternal uniparental isodisomy 14 identified after placental karyotype revealed trisomy 14 in a newborn with intrauterine growth restriction (IUGR) and minor dysmorphic features is reported. During the second trimester of the pregnancy, multiple marker screening revealed an increased risk for Down syndrome of >1 in 10. The maternal serum human chorionic gonadotrophin (MShCG) was markedly elevated at 4.19 MoM. Amniocentesis revealed a normal 46,XX karyotype. Fetal growth restriction has been associated with elevated MShCG and placental aneuploidy with CPM for chromosomes 2, 7, 9 and 16. The present case of CPM for chromosome 14 was also associated with fetal growth restriction and elevated second trimester MShCG, suggesting a common link. Further studies need to be done to determine if indeed elevation of second trimester MShCG is associated with increased risk of CPM. The present case again demonstrates the need to perform placental karyotype in unexplained fetal growth restriction. Copyright © 2001 John Wiley & Sons, Ltd.     

Unexpected structural chromosome rearrangements in prenatal diagnosis

Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X-linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed.     

Rare cell isolation using antibodies covalently linked to slides: application to fetal cells in maternal blood

We describe here a new type of method for isolation of rare cell populations in biological fluids. The method is based on the anthraquinone technology for covalent binding of molecules to a polymer surface. An anthraquinone molecule conjugated via a linker to an electrophilic group (AQ Immobilizer™ reagent, Exiqon A/S) is covalently bound to a polymer surface by UV irradiation. The electrophilic group of this AQ reagent can covalently bind a specific antibody directed against a specific cell marker. Applying a cell sample to the functional surface, the cells having the specific cell marker on the cell surface will bind to the antibody on the functional surface. Using this technique, even extremely small cell populations may be isolated. We succeeded in isolating fetal cells from maternal blood samples in the first trimester for chromosome defects genetic diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.     

Sex ratio manipulation in response to maternal condition in pigeons: evidence for pre-ovulatory follicle selection

A number of recent reports have documented offspring sex ratio biases in birds. However, to date the potential mechanisms that have been put forward to explain the proximate basis for these deviations are entirely speculative. Using a captive population of domestic pigeons (Columba livia domestica), I tested the hypothesis that mothers in relatively poor physical condition should overproduce daughters by manipulating maternal body condition around the time of egg laying by continuous egg removal and differing feeding regimes. During treatment, females were fed a controlled quantity of food. This, combined with the high energetic costs of repeated egg production caused a significant reduction in maternal body weight. In contrast, during control when food was available ad libitum, maternal body weight did not decline, despite repeated egg production. No significant deviation from parity was evident in the sex ratio of either the first or second eggs during control, whereas during treatment a significant female bias was evident in not only the first egg, but also in the second egg. The absence of single-egg clutches, the rarity of infertile eggs and the lack of laying delays between eggs strongly suggests that the mechanism of sex ratio adjustment in pigeons occurs prior to ovulation. The highly skewed sex-distribution within the two-egg clutches and the unexpectedly large amount of variation in the yolk weight of eggs produced during treatment (but not control) are consistent with the expectations of pre-ovulatory selective resorption of wrong sex ovarian follicles.     

荔枝花雄蕊和雌蕊发育过程中碳氮化合物的动态变化

比较分析了荔枝花性决定中碳氮化合物的动态变化。结果发现：C/N较大有利于雄蕊分化,反之则有利于雌蕊分化;氨基酸含量较高有利于雌蕊分化,雄蕊的氨基酸含量仅为雌蕊的一半。脯氨酸与花粉育性存在着密切相关关系。另外,探讨了雌蕊或雄蕊败育的生理意义,在长期的进化中,败育的雌蕊或雄蕊“废物”重新被利用,为同一花中迅速发育的雌蕊或雄蕊提供能量和物质的需求,表5参13。     

Green leaf volatiles enhance sex attractant pheromone of the tobacco budworm,Heliothis virescens (Lep.: Noctuidae)

Summary Components of the green leaf volatile complex (Z-3-hexenyl acetate andE-2-hexenyl acetate) were shown to enhance responses of tobacco budworm,Heliothis virescens, males to the sex attractant pheromone of conspecific females in the field. The results are discussed with regard to green leaf volatiles which enhance the attractant pheromone of a cohabiting species, and serve as attractants of a parasitoid of conspecific larvae.     

Learning and natal host influence host preference,handling time and sex allocation behaviour in a pupal parasitoid

The host choice and sex allocation decisions of a foraging female parasitoid will have an enormous influence on the life-history characteristics of her offspring. The pteromalid Pachycrepoideus vindemiae is a generalist idiobiont pupal parasitoid of many species of cyclorrhaphous Diptera. Wasps reared in Musca domestica were larger, had higher attack rates and greater male mating success than those reared in Drosophila melanogaster. In no-choice situations, na?ve female P. vindemiae took significantly less time to accept hosts conspecific with their natal host. Parasitoids that emerged from M. domestica pupae spent similar amounts of time ovipositing in both D. melanogaster and M. domestica. Those parasitoids that had emerged from D. melanogaster spent significantly longer attacking M. domestica pupae. The host choice behaviour of female P. vindemiae was influenced by an interaction between natal host and experience. Female P. vindemiae reared in M. domestica only showed a preference among hosts when allowed to gain experience attacking M. domestica, preferentially attacking that species. Similarly, female parasitoids reared on D. melanogaster only showed a preference among hosts when allowed to gain experience attacking D. melanogaster, again preferentially attacking that species. Wasp natal host also influenced sex allocation behaviour. While wasps from both hosts oviposited more females in the larger host, M. domestica, wasps that emerged from M. domestica had significantly more male-biased offspring sex ratios. These results indicate the importance of learning and natal host size in determining P. vindemiae attack rates, mating success, host preference and sex allocation behaviour, all critical components of parasitoid fitness. Electronic Publication