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Hassan W.A.,University of Cambridge | Lees C.C.,Center for Fetal Care
Best Practice and Research: Clinical Obstetrics and Gynaecology | Year: 2014

Despite advances in ultrasound technology, the sensitivity for detection of facial clefts at the routine mid-trimester details scan remains relatively poor. This can be improved by the use of a three-point ultrasound screening protocol, although this is not routine in many countries. When a facial cleft is suspected at the routine scan, further imaging is usually required to detail the extent of the cleft and presence or absence of any other abnormalities. Involvement of the fetal palate is an important finding that will determine the requirement for surgery, audiology, and orthodontic services well into teenage years. There remains little uniformity in how a facial cleft is described antenatally, with involvement of the alveolar ridge frequently and incorrectly taken to mean involvement of the palate. Further, midline clefts of the hard and soft palates, where the fetal lips and alveolar ridge are intact, are a feature of many genetic conditions, but are almost never diagnosed by prenatal ultrasound. In this chapter, we detail issues surrounding the nomenclature of facial clefts in relation to the palate, and describe some of the more commonly used two-dimensional and three-dimensional methodologies for imaging the fetal palate. © 2014 Elsevier Ltd. All rights reserved.

Tapon D.,Center for Fetal Care
Journal of Genetic Counseling | Year: 2010

Prenatal testing for Down Syndrome is a topic covered in every genetic counselor's training as it constitutes the main workload of genetic counselors in prenatal settings. Most Western countries nowadays offer some type of testing for Down Syndrome. However, practices vary according to country with regards to what tests are offered, insurance coverage and the legal situation concerning the option of terminating an affected pregnancy. In view of the growing interest in international genetic counseling issues, this article aims to compare prenatal testing practices in two Englishspeaking countries: the UnitedKingdomand the United States of America. A case will be presented to highlight some of the differences in practice. The topic underlines important implications for genetic counseling practice, such as patients' understanding of testing practices, risk perception, counseling provision and impact of prenatal testing results. © National Society of Genetic Counselors, Inc. 2009.

Damodaram M.,Imperial College London | Story L.,Imperial College London | Kulinskaya E.,University of East Anglia | Rutherford M.,Imperial College London | And 2 more authors.
Australian and New Zealand Journal of Obstetrics and Gynaecology | Year: 2011

Introduction: Growth-restricted fetuses are at increased risk of adverse perinatal outcome when compared to their normally grown counterparts. The additional risks associated with growth restriction in preterm fetuses are not well quantified, and this meta-analysis serves to address this uncertainty. Materials and Methods: This is a meta-analysis and meta-regression of all relevant studies published since 1997 investigating perinatal outcome in preterm growth-restricted fetuses. Results: Growth-restricted fetuses across all gestational ages were found to be at significant risk of having low Apgar scores at 5 min, sepsis, intracranial haemorrhage, intrauterine and neonatal death, necrotising enterocolitis and respiratory complications. Although this risk reduced as gestation increased, it remained amplified in growth-restricted fetuses when compared to normally grown fetuses. Conclusion: This large meta-analysis for the first time quantifies the additional perinatal risks associated with preterm fetal growth restriction and may help counsel parents about the complications these fetuses face following birth. © 2011 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

Frost J.M.,Imperial College London | Frost J.M.,Institute of Child Health | Monk D.,Institute of Child Health | Monk D.,Catalan Institute of Oncology IDIBELL | And 9 more authors.
Epigenetics | Year: 2011

Human embryonic stem (hES) cells and fetal mesenchymal stem cells (fMSC) offer great potential for regenerative therapy strategies. It is therefore important to characterize the properties of these cells in vitro. One major way the environment impacts on cellular physiology is through changes to epigenetic mechanisms. Genes subject to epigenetic regulation via genomic imprinting have been characterized extensively. The integrity of imprinted gene expression therefore provides a measurable index for epigenetic stability. Allelic expression of 26 imprinted genes and DNA methylation at associated differentially methylated regions (DMRs) was measured in fMSC and hES cell lines. Both cell types exhibited monoallelic expression of 13 imprinted genes, biallelic expression of six imprinted genes, and there were seven genes that differed in allelic expression between cell lines. fMSCs exhibited the differential DNA methylation patterns associated with imprinted expression. This was unexpected given that gene expression of several imprinted genes was biallelic. However, in hES cells, differential methylation was perturbed. These atypical methylation patterns did not correlate with allelic expression. Our results suggest that regardless of stem cell origin, in vitro culture affects the integrity of imprinted gene expression in human cells. We identify biallelic and variably expressed genes that may inform on overall epigenetic stability. As differential methylation did not correlate with imprinted expression changes we propose that other epigenetic effectors are adversely influenced by the in vitro environment. Since DMR integrity was maintained in fMSC but not hES cells, we postulate that specific hES cell derivation and culturing practices result in changes in methylation at DMRs. © 2011 Landes Bioscience.

Lam S.-J.,Center for Fetal Care | Best S.,Center for Fetal Care | Kumar S.,Center for Fetal Care | Kumar S.,Imperial College London | Kumar S.,University of Queensland
American Journal of Obstetrics and Gynecology | Year: 2014

Objective The objective of the study was to assess the influence of different characteristics of fibroids on pregnancy outcome. Study Design We identified women with fibroids 4 cm or greater in size on ultrasonography at the dating scan between January 2002 and December 2012. The size (4-7 cm, 7-10 cm, >10 cm), number (multiple/single), location (lower uterus/body of uterus), and type (intramural, combination of intramural/subserosal, subserosal) were ascertained. Medical records were reviewed to obtain pregnancy outcomes (preterm delivery, birthweight, mode of delivery, estimated blood loss, postpartum hemorrhage, and admission for fibroid-related pain).Results A total of 121 patients with 179 pregnancies were identified. Preterm delivery was more likely in those with multiple fibroids compared with single fibroids (18% vs 6%; P =.05). The location of the fibroid had an important effect on the mode of delivery with a higher cesarean section rate for fibroids in the lower part of uterus than in the body of the uterus (86% vs 40%; P =.01), a higher rate of postpartum hemorrhage (22% vs 11%; P =.03), and greater estimated blood loss (830 mL [SD, 551] vs 573 mL [SD, 383]; P =.03). Increasing size of fibroid was associated with greater rates of hemorrhage (11% vs 13% vs 36%; P =.04), increased estimated blood loss (567 mL [SD, 365] vs 643 mL [SD, 365] vs 961 mL [SD, 764]; P =.01), and higher rates of admissions for fibroid-related pain (5% vs 23% vs 21%; P =.01).Conclusion Different fibroid characteristics affect pregnancy outcome in varying ways. This information can be used to aid counseling women antenatally and in risk-stratifying patients. © 2014 Elsevier Inc. All rights reserved.

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