Prenatal Diagnosis

Cover image for Vol. 33 Issue 2

February 2013

Volume 33, Issue 2

Pages 103–203

  1. Original Articles

    1. Top of page
    2. Original Articles
    3. Research Letters
    1. A nomogram for perioperative prognostic risk-assessment in twin–twin transfusion syndrome (pages 103–108)

      J. J. Stirnemann, B. Nasr, M. Essaoui, L. Bussieres and Y. Ville

      Version of Record online: 21 NOV 2012 | DOI: 10.1002/pd.4015

      What's already known about this topic?

      • Perioperative prognosis of TTTS is ill-defined.
      • Prognostic factors include doppler anomalies, IUGR, short cervix, gestational age and surgical intraoperative factors.

      What does this study add?

      • Significant and independent perioperative prognostic factors comprise obstetric, intrafetal and surgical factors.
      • A reasonable set of predictors allows for risk stratification either before or just after laser surgery for the perinatal survival of one or two twins.
      • These factors are different depending on the type of outcome that is analyzed.
      • However the performance of such a prognostic model remains limited.
    2. Active management of selective intrauterine growth restriction with abnormal Doppler in monochorionic diamniotic twin pregnancies diagnosed in the second trimester of pregnancy (pages 109–115)

      G. E. Chalouhi, M. A. Marangoni, T. Quibel, B. Deloison, N. Benzina, M. Essaoui, A. Al Ibrahim, J. J. Stirnemann, L. J. Salomon and Y. Ville

      Version of Record online: 26 DEC 2012 | DOI: 10.1002/pd.4031

      What's already known about this topic?

      • Data are lacking to address this very specific problem with a difficult counseling and management.

      What does this study add?

      • Retrospective study comparing fetal outcome in second trimester severe s-IUGR in monochorionic twin pregnancies and in TTTS3D following SLPCV or CC before 24 weeks of gestation.
    3. Correction of first trimester biochemical aneuploidy screening markers for smoking status: influence of gestational age, maternal ethnicity and cigarette dosage (pages 116–123)

      Kevin Spencer and Nicholas J. Cowans

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/pd.4017

      What's already known about this topic?

      • First trimester screening markers PAPP-A and free hCGβ are reduced in smokers and are corrected for by using universal correction factors.

      What does this study add?

      • Gestational age, maternal ethnicity and cigarette dosage all appear to influence the extent of reduction of these marker levels in smokers.
      • A more complex correction system may be required.
    4. Analytical goal setting in aneuploidy screening: within person biological variability of first trimester biochemical markers (pages 124–129)

      Kevin Spencer and Nicholas J. Cowans

      Version of Record online: 21 NOV 2012 | DOI: 10.1002/pd.4019

      What's already known about this topic?

      • The within person biological variation of the first trimester biochemical markers free hCGβ and PAPP-A measured 14 days apart was 21% and 32% in a previous study.

      What does this study add?

      • For samples taken 5 days or less apart, the within-person biological variation is <5% for PAPP-A and free hCGβ, but 20% for intact hCG.
      • Analytical goals of less than 2.5% CV are required when measuring free hCGβ and PAPP-A.
    5. Association of midtrimester short femur and short humerus with fetal growth restriction (pages 130–133)

      Ana Alice Vidal de Carvalho, José Antônio Carvalho, Israel Figueiredo Jr., Luis Guillermo Coca Velarde and Edson Marchiori

      Version of Record online: 28 NOV 2012 | DOI: 10.1002/pd.4020

      What's already known about this topic?

      • Isolated short femur on midtrimester scans is associated with the subsequent development of intrauterine growth restriction.

      What does this study add?

      • Short humerus on midtrimester scans is associated with the subsequent development of intrauterine growth restriction.
      • Midtrimester short humerus is associated more strongly than short femur with growth disorders.
    6. Human fetal sacrococcygeal extension or ‘tail’ in the second trimester: prenatal diagnosis, associated findings, and clinical outcome (pages 134–140)

      Lori J. Dobson, Carol E. Barnewolt, Donna Morash, Susan A. Connolly and Judy A. Estroff

      Version of Record online: 17 DEC 2012 | DOI: 10.1002/pd.4021

      What's already known about this topic?

      • Fetal sacral extensions or ‘tails’ are rare, but have been described by sonography over the last 20 years.
      • Such lesions can be seen in isolation or with associated spinal abnormalities, additional congenital anomalies or underlying genetic syndromes.

      what does this study add?

      • When a fetal sacrococcygeal extension is seen on sonography, it is important to screen for congenital anomalies, closely monitor fetal growth, and consider obtaining a fetal karyotype.
      • Although sonography initially identified the sacral extensions in this series, fetal MRI aided in the diagnosis of associated anomalies, primarily of the brain and face and in determining the position of the fetal spinal cord conus.
      • In the setting of additional anomalies, IUGR or abnormal umbilical cord Doppler, prenatal counseling should include discussion of potential syndromic etiologies and raise the concern for a more complex prognosis.
    7. Changes in human fetal oxygenation during maternal hyperoxia as estimated by BOLD MRI (pages 141–145)

      Anne Sørensen, David Peters, Carsten Simonsen, Michael Pedersen, Brian Stausbøl-Grøn, Ole Bjarne Christiansen, Göran Lingman and Niels Uldbjerg

      Version of Record online: 12 DEC 2012 | DOI: 10.1002/pd.4025

      What's already known about this topic?

      • The BOLD MRI signal depends upon the magnetic properties of hemoglobin.
      • In the sheep fetus, changes in the BOLD MRI signal reflect changes in fetal tissue oxygenation.
      • Maternal hyperoxia increases the fetal oxygen supply when estimated by cordocentesis.

      What does this study add?

      • In the human fetus, the BOLD technique is capable of measuring changes in tissue oxygenation in various fetal organs.
      • Maternal hyperoxia increases fetal tissue oxygenation in a number of fetal organs.
      • The oxygenation of the fetal brain is unaffected by maternal hyperoxia, this could be caused by autoregulation of fetal cerebral bloodflow – reversed brain sparing.
    8. Do pregnant women and their partners make an informed choice about first trimester risk assessment for Down syndrome, and are they satisfied with the choice? (pages 146–152)

      Louise Bangsgaard and Ann Tabor

      Version of Record online: 7 DEC 2012 | DOI: 10.1002/pd.4026

      What's already known about this topic?

      • The rate of informed choice regarding first trimester screening varies between countries. It has not previously been examined in a country offering first trimester screening to all women, free of charge.

      What does this study add?

      • In a country with free access to screening for Down syndrome, the rate of informed choice was 80% among women and partners, reflecting a high degree of knowledge. Furthermore, at 30 weeks, satisfaction with having had a risk assessment was very high.
    9. Quantitative evaluation of the fetal cerebellar vermis using the median view on three-dimensional ultrasound (pages 153–157)

      Dan Zhao, Wei Liu, Ailu Cai, Jingyu Li, Lizhu Chen and Bing Wang

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/pd.4027

      What's already known about this topic?

      • The evaluation of fetal cerebellar vermis in median plane with three-dimensional ultrasound has been described before, but the resolution of 3D reconstructed planes comparing with the 2D direct plane is challenging.

      What does this study add?

      • We add a new technology of OMNIVIEW for the reconstructions. We also measured the angle between vermis and brain stem for assessment of the vermian rotation.
    10. Maternal-fetal medicine fellowship obstetrical ultrasound experience: results from a fellowship survey (pages 158–161)

      Yair J. Blumenfeld, Amen Ness and Lawrence D. Platt

      Version of Record online: 11 DEC 2012 | DOI: 10.1002/pd.4029

      What's already known about this topic?

      • MFM fellowships in the USA include both research and clinical components, a large proportion of which is spent in prenatal diagnosis.

      What does this study add?

      • Mentorship and structured teaching in prenatal ultrasound are limited in some programs.
      • Few fellows concentrate their research on prenatal diagnosis during fellowship, and fewer still make prenatal diagnosis their thesis.
    11. In vitro sealing of iatrogenic fetal membrane defects by a collagen plug imbued with fibrinogen and plasma (pages 162–167)

      A. C. Engels, M. F. Hoylaerts, M. Endo, S. Loyen, G. Verbist, S. Manodoro, P. DeKoninck, J. Richter and J. A. Deprest

      Version of Record online: 7 JAN 2013 | DOI: 10.1002/pd.4032

      What's already known about this topic?

      • Iatrogenic preterm premature rupture of membranes remains the main complication after fetal surgery. Over the years, we have witnessed a real Odyssey of sealants being suggested or used to treat or prevent iPPROM; however, none of them has been shown to be clinically very effective. In the case of fetal membranes, the role of thrombin generation is less clear, but amniotic cells produce in vitro potent procoagulant activity consisting of tissue factor.

      What does this study add?

      • This study provides experimental evidence of thrombin generation in the presence of not-intact fetal membranes. Optimal plasma and fibrinogen concentrations were determined to optimize local formation of a ‘white’ fibrin clot that effectively seals a membrane defect ex vivo. All described methods are technically feasible in a clinical setting so that it seems logic to test this combination in vivo.
    12. Circulating mRNA for epidermal growth factor-like domain 7 (EGFL7) in maternal blood and early intrauterine growth restriction. A preliminary analysis (pages 168–172)

      Margherita Zanello, Paola DeSanctis, Giulia Pula, Cinzia Zucchini, Maria Carla Pittalis, Nicola Rizzo and Antonio Farina

      Version of Record online: 26 DEC 2012 | DOI: 10.1002/pd.4034

      What's already known about this topic?

      • EGFL7 is expressed during intense vasculogenesis and during embryonic development. During pregnancy, EFGL7 gene expression has been found to be decreased in placental tissues of pregnancies complicated by early onset pre-eclampsia.

      What does this study add?

      • This paper is the first that reports dosage of mRNA for EGFL7 in maternal blood from pregnancies affected with severe early IUGR.
      • We have found high levels of this mRNA in IUGR when compared with controls matched for gestational age and fetal gender.
    13. Clinical application of midtrimester non-invasive fetal RHD genotyping and identification of RHD variants in a mixed-ethnic population (pages 173–178)

      M. Grande, E. Ordoñez, V. Cirigliano, J. Cid, E. Grau, A. Pericot, I. Teixido, J. L. Marin and A. Borrell

      Version of Record online: 20 DEC 2012 | DOI: 10.1002/pd.4035

      What's already known about this topic?

      • Routine antenatal RHD genotyping performed in maternal plasma by real-time PCR is an accurate method to avoid the use of anti-D immunoglobulin when both the pregnant woman and the fetus are RhD negative.

      What does this study add?

      • Fetal genotyping at 24 weeks of gestation is highly accurate using probes for RHD exons 5 and 7 (10 and 6 in selected cases), minimizing the false negative results and allowing prenatal detection of RHD variants in our mixed ethnic population.
    14. Clinical and socioeconomic predictors of pregnancy termination for fetuses with congenital heart defects: a population-based evaluation (pages 179–186)

      Karim Tararbit, Thi Thanh Thao Bui, Nathalie Lelong, Anne-Claire Thieulin, François Goffinet and Babak Khoshnood

      Version of Record online: 11 JAN 2013 | DOI: 10.1002/pd.4043

      What's already known about this topic?

      • Most of the literature on TOPFA for CHD includes single-center hospital-based studies. Moreover, few studies have evaluated both socioeconomic and clinical factors that could be associated with the risk of TOPFA for CHD

      What does this study add?

      • Using population-based data, we found that, in addition to severity of congenital heart defects, early prenatal diagnosis and maternal characteristics are highly associated with the probability of TOPFA for isolated congenital heart defects.
    15. Increased autophagy in the placental territory of selective intrauterine growth-restricted monochorionic twins (pages 187–190)

      Yao-Lung Chang, Tzu-Hao Wang, Shuenn-Dyh Chang, An-Shine Chao, Peter C. C. Hsieh and Chao-Nin Wang

      Version of Record online: 3 JAN 2013 | DOI: 10.1002/pd.4040

      What's already known about this topic?

      • Autophagic activity is increased in the placenta of intrauterine growth-restricted fetuses.

      What does this study add?

      • Autophagic activity is increased in the placental territory of selective intrauterine growth-restricted monochorionic twins, and the phenomenon is aggravated in the presence of abnormal umbilical artery blood flow at Doppler.
    16. The effect of hereditary versus acquired thrombophilia on triple test Down's syndrome screening (pages 191–195)

      Maya Frank, Ron Maymon, Yifat Wiener, Ortal Neeman, Yaffa Kurzweil and Jacob Bar

      Version of Record online: 4 JAN 2013 | DOI: 10.1002/pd.4041

      What's already known about this topic?

      • In women with antiphospholipid syndrome, the levels of mid gestation human chorionic gonadotropin (hCG)/alpha-fetoprotein (AFP) markers have been investigated and found to be elevated.

      What does this study add?

      • The high mid gestation serum hCG levels found in pregnant women with acquired thrombophilia alerts for placental dysfunction rather than aneuploidy.
  2. Research Letters

    1. Top of page
    2. Original Articles
    3. Research Letters
    1. You have free access to this content
      Fetal neural tube defects in pregnant women previously submitted to bariatric surgery: more attention to a new emerging entity (pages 196–197)

      Gloria Pelizzo, Ghassan Nakib, Alessandro Alfei, Angela Iasci, Hellas Cena, Davide Locatelli, Mario Mosconi, Federico Zappoli and Valeria Calcaterra

      Version of Record online: 6 DEC 2012 | DOI: 10.1002/pd.4023

      What's already known about this topic?

      • The pathogenesis of neural tube defects is multifactorial.

      What does this study add?

      • Although the pathogenesis of neural tube defects is certainly multifactorial, malnutrition after bariatric surgery has to be considered a major risk factor. Women who have undergone bariatric procedure must receive nutritional counselling before and after conception.
    2. Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicism (pages 198–200)

      H. Choi, T. K. Lau, F. M. Jiang, M. K. Chan, H. Y. Zhang, P. S. S. Lo, F. Chen, L. Zhang and W. Wang

      Version of Record online: 27 NOV 2012 | DOI: 10.1002/pd.4024

      What's already known about this topic?

      • Non-invasive prenatal testing by maternal plasma DNA sequencing is highly sensitive and specific in detecting fetal aneuploidies.

      What does this study add?

      • We report a case of ‘false positive’ result of NIPT because of confined placental mosaicism.
    3. Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses (pages 201–203)

      Karin Segers, Genevieve Pierquin, Stephanie Gaillez, Katty Delbecque, Maria Retz, Malek Tebache, Hans Waterham, Ronald Wanders, Sacha Ferdinandusse and François-Guillaume Debray

      Version of Record online: 9 JAN 2013 | DOI: 10.1002/pd.4038

      What's already known about this topic?

      • Neuronal migration disorders are caused by many genetic conditions. Zellweger syndrome is a rare autosomal recessive cause. Prenatal diagnosis can be performed in further pregnancies.

      What does this study add?

      • We show that early prenatal diagnosis can be reached by biochemical testing in pregnancies at risk for ZSS, even when no definite diagnosis has been established in a previous pregnancy. ZSS should be considered in fetus presenting with lissencephaly and other specific congenital anomalies.

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