Prenatal Diagnosis

Cover image for Vol. 34 Issue 1

January 2014

Volume 34, Issue 1

Pages 1–101

  1. Editorial

    1. Top of page
    2. Editorial
    3. ISPD 2013 Meeting Presentations
    4. Reviews
    5. Original Articles
    6. Research Letter
    1. You have free access to this content
      In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013 (pages 1–5)

      Diana W. Bianchi, Tim Van Mieghem, Lisa G. Shaffer, Brigitte H. W. Faas, Lyn S. Chitty, Alessandro Ghidini and Jan Deprest

      Article first published online: 2 JAN 2014 | DOI: 10.1002/pd.4288

  2. ISPD 2013 Meeting Presentations

    1. Top of page
    2. Editorial
    3. ISPD 2013 Meeting Presentations
    4. Reviews
    5. Original Articles
    6. Research Letter
    1. Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women? (pages 6–11)

      Diana W. Bianchi, Dick Oepkes and Alessandro Ghidini

      Article first published online: 24 SEP 2013 | DOI: 10.1002/pd.4229

      What's already known about this topic?

      • Noninvasive DNA testing (NIDT) is recommended in many developed countries as an option for pregnant women who have already been determined to be at high risk for fetal aneuploidy.
      • Over 2 years of clinical experience has been accumulated with offering NIDT as an advanced screen for fetal autosomal aneuploidy.
      • At the present time, most testing is being performed by commercial organizations.

      What does this study add?

      • This study provides a written transcript to accompany an oral debate that was presented at the 17th International Conference on Prenatal Diagnosis and Therapy in Lisbon, Portugal, on 3 June 2013.
      • The debaters, who are both experts in maternal–fetal medicine, consider the benefits and limitations of offering NIDT to all pregnant women regardless of their a priori risk of having a fetus with a chromosome abnormality.
    2. Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients? (pages 12–17)

      The-Hung Bui, Frances Lucy Raymond and Ignatia B. Van den Veyver

      Article first published online: 5 DEC 2013 | DOI: 10.1002/pd.4275

      What's already known about this topic?

      • Incidental findings can occur in many areas of diagnostic testing.
      • Incidental findings, including those of uncertain significance, have many complicated aspects or prenatal diagnosis and are not limited to genetic testing.
      • Whereas guidelines for which findings should be reported and how to report them are being developed in the pediatric and adult genetic testing, little to no guidance exists for prenatal diagnosis.

      What does this study add?

      • We report two opinions on how to address incidental findings on the basis of a debate at the 17th annual conference of the International Society for Prenatal Diagnosis.
    3. Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray? (pages 18–22)

      John A. Crolla, Ronald Wapner and Jan M. M. Van Lith

      Article first published online: 2 JAN 2014 | DOI: 10.1002/pd.4287

      What's already known about this topic?

      • Chromosomal microarrays (CMA) are routinely used in postnatal genetic diagnosis.
      • CMA is technically applicable in prenatal diagnosis.
      • Pros and cons of routine use are discussed as follows: technical aspects and design of array, yield, interpretation of copy number variants and variances of unknown significance (VOUS), quality control regimens.

      What does this study add?

      • Pros and cons of routine use are discussed as follows: technical aspects and design of array, yield, interpretation of copy number variants and variances of unknown significance (VOUS), quality control regimens.
  3. Reviews

    1. Top of page
    2. Editorial
    3. ISPD 2013 Meeting Presentations
    4. Reviews
    5. Original Articles
    6. Research Letter
    1. Functional echocardiography in the fetus with non-cardiac disease (pages 23–32)

      Tim Van Mieghem, Ryan Hodges, Edgar Jaeggi and Greg Ryan

      Article first published online: 4 NOV 2013 | DOI: 10.1002/pd.4254

      What's already known about this topic?

      • Fetal cardiac function can be altered in fetuses with extra cardiac disease.

      What does this study add?

      • This article summarizes the changes in fetal hemodynamics seen in fetuses with non-cardiac disease and demonstrates how fetal cardiac function assessment can improve our understanding of the pathophysiology of these conditions.
      • The manuscript reviews how fetal hemodynamic assessment can help in guiding the clinical management of the sick fetus.
    2. In vivo assessment of the biomechanical properties of the uterine cervix in pregnancy (pages 33–41)

      Edoardo Mazza, Miguel Parra-Saavedra, Michael Bajka, Eduard Gratacos, Kypros Nicolaides and Jan Deprest

      Article first published online: 20 NOV 2013 | DOI: 10.1002/pd.4260

      What's already known about this topic?

      • There is a need to improve existing methods for assessing risk of premature delivery or successful induction of labor.
      • Quantitative determination of physical properties of the cervix, such as its stiffness, might provide useful criteria.

      What does this study add?

      • Quasi-static elastography cannot quantify cervical stiffness and cannot be reliably used to predict preterm delivery.
      • New biomechanical measurement techniques (‘aspiration’ and ‘cervical consistency index’) could demonstrate progressive softening of the pregnant cervix and might be used for diagnosis.
  4. Original Articles

    1. Top of page
    2. Editorial
    3. ISPD 2013 Meeting Presentations
    4. Reviews
    5. Original Articles
    6. Research Letter
    1. You have full text access to this OnlineOpen article
      Perinatal management of trisomy 18: a survey of obstetricians in Australia, New Zealand and the UK (pages 42–49)

      D. J. C. Wilkinson, L. de Crespigny, C. Lees, J. Savulescu, P. Thiele, T. Tran and A. Watkins

      Article first published online: 30 OCT 2013 | DOI: 10.1002/pd.4249

      What's already known about this topic?

      • Many women choose to terminate after a prenatal diagnosis of trisomy 18, although some continue their pregnancy.
      • Professional and ethical guidelines indicate that obstetricians should be non-directive in counselling and that fetal-oriented management may be appropriate.

      What does this study add?

      • Obstetricians in the UK, Australia and New Zealand vary in their management of prenatally diagnosed trisomy 18.
      • Counselling is frequently directive.
      • Perinatal management of trisomy 18 may be influenced by practitioner values.
    2. Sonographic fetal weight estimation – is there more to it than just fetal measurements? (pages 50–55)

      Oshri Barel, Ron Maymon, Zvi Vaknin, Josef Tovbin and Noam Smorgick

      Article first published online: 17 NOV 2013 | DOI: 10.1002/pd.4250

      What's already known about this topic?

      • Most of the studies so far found conflicting evidence regarding the effect of maternal, fetal, and examiner related factors on the accuracy of sonographic fetal weight estimation.

      What does this study add?

      • This study evaluated over 9000 cases and found a significant effect of several factors on the accuracy of sonographic fetal weight estimation. Nevertheless, even after adjusting for these factors, fetal weight estimation will only improve by up to 10%.
    3. Strategy for managing maternal variant RHD alleles in Rhesus D negative obstetric populations during fetal RHD genotyping (pages 56–62)

      Catherine A. Hyland, Glenn J. Gardener, Helen O'Brien, Glenda Millard, Kristen Gibbons, Anne Tremellen, Gorka Ochoa-Garay, Robert L. Flower and Jonathan A. Hyett

      Article first published online: 4 NOV 2013 | DOI: 10.1002/pd.4253

      What's already known about this topic?

      • Fetal RHD screening programs to reduce unnecessary antenatal anti-D prophylaxis are being introduced into clinical practice.
      • The prevalence of maternal RHD variants will vary according to the ethnic distribution of the local population and affect the test performance.

      What does this study add?

      • The prevalence of RHD variants in nonselected and alloimmunised Rhesus D negative Australian obstetric groups is defined at 1% (6/603) and 5.5% (6/110), respectively (p < 0.001).
      • A mathematical model can simplify detection of maternal RHD variants.
    4. Placental methylation markers in normal and trisomy 21 tissues (pages 63–70)

      Yu-Zhu Yin, Qin She, Jun Zhang, Pei-Zhen Zhang, Yuan Zhang, Jun-Wei Lin and Yan-Chou Ye

      Article first published online: 15 NOV 2013 | DOI: 10.1002/pd.4256

      What's already known about this topic?

      • Epigenetic markers are potentially useful for noninvasive prenatal diagnosis of Down syndrome.

      What does this study add?

      • Methylation-specific multiplex ligation-dependent probe amplification is an effective alternative to bisulfite sequencing for the assessment of methylation ratios in placental tissue.
      • CGI149 may serve as a potential marker for the noninvasive diagnosis of Down syndrome.
    5. Prenatal genetic counseling referrals for advanced maternal age: still room for improvement (pages 71–74)

      E. Pompilii, G. Astolfi, O. Calabrese, E. Calzolari, A. Ferlini, M. Lucci, G. Parmeggiani, M. Seri and A. Baroncini

      Article first published online: 15 NOV 2013 | DOI: 10.1002/pd.4257

      What's already known about this topic?

      • The precondition for prenatal diagnosis of genetic defects is timely identification of risk factors. However, studies have documented a suboptimal referral pattern and have demonstrated the utility of obtaining a genetic family history also in pregnant women referred solely on the basis of AMA, abnormal non-invasive screening results, or to discuss first trimester screening options.
      • In Italy, a low utilization of genetic counseling services has consistently been reported.

      What does this study add?

      • This study shows that one out of 15 women referred for prenatal genetic counseling exclusively for AMA has additional genetic risk factors already present before pregnancy.
      • Our results confirm the need to enhance public and health care provider's awareness of genetic risk factors, so as to increase access to specialist investigation and counseling for women at increased risk in their childbearing years.
    6. Second trimester fetal neurosonography: reconstructing cerebral midline anatomy and anomalies using a novel three-dimensional ultrasound technique (pages 75–83)

      Gabriele Tonni, Gianpaolo Grisolia and Waldo Sepulveda

      Article first published online: 9 DEC 2013 | DOI: 10.1002/pd.4258

      What's already known about this topic?

      • Direct sonographic demonstration of the midline cerebral structures, such as the corpus callosum and cerebellar vermis, during the routine second trimester scan, is highly dependent on operator's skill, fetal position, and maternal habitus.
      • Three-dimensional sonography of the fetal brain allows the acquisition of volume data sets that can be examined off-line in any given section, facilitating the evaluation of the midline cerebral structures and diagnosis of anomalies of the corpus callosum and cerebellar vermis.

      What does this study add?

      • Three-dimensional data sets from the fetal brain acquired in the axial plane can be reformatted using the omniview software, allowing instantaneous and simultaneous visualization of the orthogonal, midsagittal plane.
      • Our experience involving both normal and abnormal fetuses confirms that the omniview software is a useful tool for the assessment of the corpus callosum and cerebellar vermis at the time of the second trimester anatomy scan.
    7. A pictorial essay on fetal rabbit anatomy using micro-ultrasound and magnetic resonance imaging (pages 84–89)

      Philip DeKoninck, Masayuki Endo, Inga Sandaite, Jute Richter, Luc De Catte, Ben Van Calster, Jaan Toelen, Uwe Himmelreich, Filip Claus and Jan Deprest

      Article first published online: 22 NOV 2013 | DOI: 10.1002/pd.4259

      What's already known about this topic?

      • In the recent decades, more advanced ultrasound platforms have been developed, providing high resolution images. Thereby allowing a more detailed structural, as well as functional evaluation of fetal development in several animal models. The rabbit model is used in numerous fields of research and therefore detailed imaging with micro-ultrasound could provide interesting new insights for many researchers.

      What does this study add?

      • We have provided gestational age specific reference ranges for various biometric variables in the rabbit, as well as an anatomical overview of the fetal thoracic development. This could be useful for researchers planning future experiments in the rabbit model.
    8. TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia (pages 90–93)

      Delphine Body-Bechou, Philippe Loget, Dominique D'Herve, Bernard Le Fiblec, Anne-Gaelle Grebille, Hélène Le Guern, Caroline Labarthe, Margaret Redpath, Anne-Sophie Cabaret-Dufour, Odent Sylvie, Alice Fievet, Corinne Antignac, Laurence Heidet, Sophie Taque and Poulain Patrice

      Article first published online: 2 JAN 2014 | DOI: 10.1002/pd.4264

      What's already known about this topic?

      • TCF2 mutations are the leading cause of monogenic abnormal kidney development.
      • The absence of genotype–phenotype correlations makes genetic counseling extremely difficult.

      What does this study add?

      • The first report of pancreatic agenesis associated with TCF2 mutation.
      • Indicates the importance of visualizing the pancreas during ultrasound examinations if renal malformations are discovered.
    9. Detection of S100B in maternal blood before and after fetal death (pages 94–97)

      Ofer Beharier, Eden Shusterman, Tamar Eshcoli, Irit Szaingurten-Solodkin, Barak Aricha-Tamir, Adi Y. Weintraub, Eyal Sheiner, Gershon Holcberg and Reli Hershkovitz

      Article first published online: 2 JAN 2014 | DOI: 10.1002/pd.4266

      What's already known about this topic?

      • S100B is elevated in serum and urine of neonates suffering from brain damage following asphyxia.
      • Fetal brain damage (FBD) during pregnancy in sheep was accompanied by S100B elevation in maternal circulation.

      What does this study add?

      • We monitored S100B in human maternal blood before and after feticide.
      • Feticide-induced FBD did not lead to elevated levels of S100B in maternal blood.
  5. Research Letter

    1. Top of page
    2. Editorial
    3. ISPD 2013 Meeting Presentations
    4. Reviews
    5. Original Articles
    6. Research Letter
    1. You have full text access to this OnlineOpen article
      Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization (pages 98–101)

      Evangelia Karampetsou, Deborah Morrogh, Terry Ballard, Jonathan J. Waters, Nicholas Lench and Lyn S. Chitty

      Article first published online: 14 NOV 2013 | DOI: 10.1002/pd.4255

      What's already known about this topic?

      • Use of microarray for prenatal diagnosis increases the detection of pathogenic chromosomal rearrangements.
      • CPM is a well-established phenomenon occurring in 1–2% of CVS.

      What does this study add?

      • CPM can occur for submicroscopic copy number changes detected by array CGH in DNA from uncultured CVS. In order to minimise the risk of false-positive results in these cases, detected copy number changes should be confirmed in a different source of material, such as cultured cells.

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