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Prenatal Diagnosis

Yali Xiong, Stacey Jeronis, Barbara Hoffman, Dan A Liebermann, Ossie Geifman-Holtzman
OBJECTIVE: This study was aimed to evaluate whether maternal dried blood spots (DBS) could be a potential source for the non-invasive fetal RHD genotyping, serving as a combined one-step test for both the First Trimester Screen and the fetal RHD genotyping. METHOD: Both the DBS and the peripheral blood samples from nineteen RhD-negative pregnant women were obtained during the First Trimester Screen. DNA was extracted and Sequential Real-time PCRs were performed to determine the fetal RHD genotypes...
January 12, 2017: Prenatal Diagnosis
Florencia Petracchi, Cecilia Paez, Laura Igarzabal
OBJECTIVE: To compare the cost-effectiveness of performing chorionic villous sampling (CVS) of products of conception (POC) in the evaluation of recurrent miscarriage versus standard evidence based work-up (EBW) of the couple. MATERIAL AND METHODS: A Decision-analytic model was performed in couples with a third miscarriage. Three strategies were considered: 1)the standard EBW of all the patients: comprising parental karyotype, uterine cavity assessment and antiphospholipid antibodies...
January 9, 2017: Prenatal Diagnosis
Anna I Girsen, Susan R Hintz, Rami Sammour, Aasim Naqvi, Yasser Y El-Sayed, Katie Sherwin, Alexis S Davis, Valerie Y Chock, Richard A Barth, Erika Rubesova, Karl G Sylvester, Ritu Chitkara, Yair J Blumenfeld
OBJECTIVE: To evaluate the utility of fetal lung mass imaging for predicting neonatal respiratory distress. METHOD: Pregnancies with fetal lung masses between 2009 and 2014 at a single center were analyzed. Neonatal respiratory distress was defined as: Intubation and mechanical ventilation at birth, surgery before discharge, or ECMO. The predictive utility of the initial as well as maximal lung mass volume and congenital pulmonary airway malformation (CPAM) volume ratio (CVR) by US and MRI was analyzed...
January 6, 2017: Prenatal Diagnosis
Maria C Autuori, Yun J Pai, Daniel J Stuckey, Dawn Savery, Anna M Marconi, Valentina Massa, Mark F Lythgoe, Andrew J Copp, Anna L David, Nicholas D E Greene
OBJECTIVE: We used non-invasive high frequency ultrasound (HFUS) imaging to investigate embryonic brain development in a mouse model for neural tube defects (NTDs) and Non-Ketotic Hyperglycinemia (NKH). METHOD: Using HFUS, we imaged embryos carrying loss of function alleles of Gldc encoding glycine decarboxylase, a component of the glycine cleavage system in mitochondrial folate metabolism, which is known to be associated with cranial NTDs and NKH in humans. We serially examined the same litter during the second half of embryonic development and quantified cerebral structures...
January 5, 2017: Prenatal Diagnosis
R Katie Morris, Ashwini Bilagi, Pooja Devani, Mark D Kilby
OBJECTIVES: To determine association, and predictive ability, of first trimester maternal serum pregnancy associated plasma protein A (PAPP-A) with adverse pregnancy outcomes. METHOD: Searches of Medline, Embase and CINAHL (inception-September 2015) for studies including pregnant women with first trimester PAPP-A and assessment of pregnancy outcomes.Study characteristics, quality and results extracted. Meta-analysis of odds ratios (OR), and likelihood ratios (LR) and 95% confidence intervals (CI)...
December 23, 2016: Prenatal Diagnosis
Diana W Bianchi
The metaphor "open kimono" has been applied in the business world to connote transparency via the release of all available data to an external party. Here the author uses this term to discuss the relative advantages and disadvantages of reporting on the presence of rare autosomal aneuploidies detected by massively parallel sequencing of placental cell-free DNA in the plasma of pregnant women. Newly presented datasets from multiple laboratories suggest that autosomal aneuploidies such as trisomies 7, 15, 16, 22, and 8 are easily detectable and are potentially associated with fetal growth restriction, pregnancy loss and maternal preeclampsia...
December 23, 2016: Prenatal Diagnosis
Yaron Zalel, Roni Zemet, Zvi Kivilevich
OBJECTIVE: To assess the utility of a detailed early fetal anatomy scan prior to karyotyping in the management of pregnancies with an increased nuchal translucency (NT). METHODS: The study included fetuses with NT above the 99(th) centile. These women were offered the option of an early detailed fetal anatomy scan prior to genetic evaluation. The presence or absence of major sonographic findings was analyzed for its predictive value for fetal aneuploidy. RESULTS: An increased NT >99(th) centile was detected in 43 fetuses (1...
December 23, 2016: Prenatal Diagnosis
Joan Sabria, Laura Guirado, Isabel Miró, Maria Dolors Gómez-Roig, Antoni Borrell
OBJECTIVE: Audit the crown-rump length (CRL) measurements taken at 11-13 weeks scan, using operator-specific median multiples of the median (MoM) for pregnancy-associated plasma protein-A (PAPP-A) and free ß-human chorionic gonadotropin (ß-hCG) plots, to identify deviations potentially related to a systematic CRL bias. METHODS: Study population included consecutive singleton pregnancies undergoing first trimester combined screening, scanned by sonologists with at least 100 scans, during the 2011-12 period...
December 22, 2016: Prenatal Diagnosis
Tsz-Kin Lo, Kelvin Yuen-Kwong Chan, Anita Sik-Yau Kan, Po-Lam So, Choi-Wah Kong, Shui-Lam Mak, Chung-Nin Lee
No abstract text is available yet for this article.
December 22, 2016: Prenatal Diagnosis
Guido de Wert, Wybo Dondorp, Diana W Bianchi
BACKGROUND: Parallel to recent advances in prenatal screening for Down syndrome (DS), therapies for different aspects of the condition have become available. As intellectual disability is a key aspect, this is an active area for research. Several groups have hypothesized that prenatal interventions will give better chances at improving cognitive functioning in persons with DS than postnatal treatment. Clinical trials are being developed. METHOD: We first discuss the ethical pros and cons of trying to improve cognitive functioning in persons with DS to see if there are categorical objections to the general idea, and then move on to explore ethically relevant aspects of the prospect of developing fetal therapy for DS (FTDS)...
December 22, 2016: Prenatal Diagnosis
Kristen Uquillas, Yen Chan, Jennifer R King, Linda M Randolph, Marc Incerpi
No abstract text is available yet for this article.
December 22, 2016: Prenatal Diagnosis
Lucia Manganaro, Silvia Bernardo, Corrado De Vito, Amanda Antonelli, Enrica Marchionni, Valeria Vinci, Matteo Saldari, Letizia Di Meglio, Antonella Giancotti, Evelina Silvestri, Carlo Catalano, Antonio Pizzuti
PURPOSE: To characterize isolated and non-isolated forms of Corpus Callosum Dysgenesis (CCD) at Fetal MRI and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus Callosum (CC), cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated. Results of genetic tests were also recorded...
December 19, 2016: Prenatal Diagnosis
Theodore Dubinsky, Mariam Moshiri, Kristina Adams Waldorf, Greg Wilson, Jeff Maki, Dan Hippe
OBJECT: The aim of this study was to perform in vitro T2 mapping of serial dilutions of pharmaceutical surfactant. MATERIALS AND METHODS: MR imaging. MR scanning was performed on serial dilutions of surfactant on large bore clinical magnets at a field strength of 1.5 T Philips and 3.0 T (Achieva TX, Philips Healthcare, the Netherlands). RESULTS: The curves demonstrate a small increasing trend between surfactant concentration and R2 (shortened T2's), with a 7...
December 17, 2016: Prenatal Diagnosis
Dorothée Geslin, Pauline Clermidi, Marie-Eve Gatibelza, Françoise Boussion, Anne-Hélène Saliou, Gaëlle Le Manac'h Dove, Marc Margaryan, Philine De Vries, Loïc Sentilhes, Guillaume Levard, Hubert Lardy, Alexis Arnaud, Marc-David Leclair, Guillaume Podevin, Françoise Schmitt
OBJECTIVE: to evaluate prenatal ultrasound parameters as prognostic factors for complex and vanishing gastroschisis METHODS: retrospective multicentre study of 200 gastroschisis over 13 years (2000-2013). Collection of prenatal ultrasound evaluation on maternal and fetal growth parameters, intra- and extra-abdominal bowel and stomach dilation, abdominal wall defect diameter and changes in bowel appearance. Correlation of these factors with the presence of mechanical intestinal complications at birth, named "complex gastroschisis"...
December 16, 2016: Prenatal Diagnosis
Songchang Chen, Deyuan Liu, Junyu Zhang, Shuyuan Li, Lanlan Zhang, Jianxia Fan, Yuqin Luo, Yeqing Qian, Hefeng Huang, Chao Liu, Huanhuan Zhu, Zhengwen Jiang, Chenming Xu
OBJECTIVE: Chromosomal abnormalities such as aneuploidy have been shown to be responsible for causing spontaneous abortion. Genetic evaluation of abortions is currently under-performed. Screening for aneuploidy in the products of conception can help determine the etiology. We designed a High-throughput Ligation-dependent Probe Amplification (HLPA) assay to examine aneuploidy of 24 chromosomes in miscarriage tissues and aimed to validate the performance of this technique. METHODS: We carried out aneuploidy screening in 98 fetal tissue samples collected from female subjects with singleton pregnancies who experienced spontaneous abortion...
December 15, 2016: Prenatal Diagnosis
Yaakov Melcer, Gaby Kaplan, Ido Ben-Ami, Hilla Bahat, Amos Neeman, Narine Galoyan, Ron Maymon
OBJECTIVE: To assess the spectrum of fetal renal tract abnormalities as a major finding leading to termination of pregnancy (TOP). METHOD: The study population included all pregnant women with singleton pregnancy that underwent TOP in our institute because of fetal renal tract indications between 1998 and 2015. We specifically excluded TOPs performed due to multiple pregnancies, multi system defects, abnormal karyotype and chromosomal or genetic defect not related to renal tract abnormalities...
December 15, 2016: Prenatal Diagnosis
Seiji Wada, Seung Chik Jwa, Yumoto Yasuo, Yuichiro Takahashi, Keisuke Ishii, Noriaki Usui, Haruhiko Sago
OBJECTIVES: To determine the prognostic factors and outcomes of primary fetal hydrothorax (FHT) and investigate the effects of fetal therapy. METHODS: A nationwide survey was conducted on fetuses with primary FHT delivered after 22 weeks of gestation between January 2007 and December 2011 at perinatal centers. RESULTS: Among 287 cases of primary FHT, the survival rates for those with and without hydrops were 58.0% (113/195) and 97.8% (90/92), respectively...
December 15, 2016: Prenatal Diagnosis
Greggory R DeVore, Gary Satou, Mark Sklansky
OBJECTIVE: Evaluate whether the area of the four-chamber view of the fetal heart computed from two orthogonal diameters could be used to screen for cardiac malformations. METHODS: Two hundred control fetuses were examined between 20 and 40 weeks of gestation. The end-diastolic area was computed from the orthogonal basal-apical and transverse diameters obtained from the four-chamber view. Regression analysis of the computed area vs. six independent variables was performed between 20 and 40 weeks...
December 11, 2016: Prenatal Diagnosis
Anne L Depla, Corstiaan C Breugem, Chantal M A M van der Horst, Roel de Heus, Marie-José H van den Boogaard, Saskia M Maas, Eva Pajkrt, Mireille N Bekker
OBJECTIVES: Polyhydramnios is suggested to be associated with oral clefts (OC) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies. METHODS: This was a retrospective cohort study of prenatally diagnosed OC. The incidence of idiopathic polyhydramnios in isolated OC pregnancies was determined. Pregnancy outcome, neonatal and pediatric follow-up were compared between cases with polyhydramnios and those with normal amniotic fluid...
December 11, 2016: Prenatal Diagnosis
Andrea Dall'Asta, Claudio Cavalli, Letizia Galli, Nicola Volpe, Adi Weiss, Christine Tita Kaihura, Aldo Agnetti, Tiziana Frusca, Tullio Ghi
OBJECTIVES: Outlet ventricular septal defects (VSDs) are usually suspected on the five chamber view of the fetal heart however postnatal confirmation occurs only in a small number of cases. The aim of this study was to assess if the systematic assessment of the short axis view may improve the prediction of antenatally detected outlet VSDs. METHODS: Cases where isolated outlet VSD was suspected on the five chamber view were assessed using the short axis scanning plane for confirmation of the defect...
December 11, 2016: Prenatal Diagnosis
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