Prenatal Diagnosis

Cover image for Vol. 34 Issue 5

May 2014

Volume 34, Issue 5

Pages 409–509

  1. Review

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letter
    5. Correspondence
    1. Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care (pages 409–415)

      Frederik Banch Clausen

      Version of Record online: 5 FEB 2014 | DOI: 10.1002/pd.4326

      What's already known about this topic?

      • Risk assessment of hemolytic disease of the fetus and newborn is possible by noninvasive DNA testing of fetal blood group antigens.
      • Application of noninvasive fetal RHD typing has been very successful to assist RhD immunized women and can be used to guide targeted prenatal prophylaxis to avoid unnecessary exposure to anti-D.

      What does this study add?

      • This review gives an overview of the current practice of noninvasive prenatal prediction of fetal blood group antigens, particularly fetal RhD.
      • The integration into clinical care is highly feasible.
  2. Original Articles

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letter
    5. Correspondence
    1. Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists (pages 416–423)

      Lori Haymon, Eve Simi, Kelly Moyer, Sharon Aufox and David W. Ouyang

      Version of Record online: 12 FEB 2014 | DOI: 10.1002/pd.4301

      What's already known about this topic?

      • Clinical utility, test sensitivity, lack of professional guidelines, and cost have been identified as challenges to the clinical implementation of non-invasive prenatal testing (NIPT)

      What does this study add?

      • Non-invasive prenatal testing is being adopted into maternal-fetal medicine (MFM) practice, but issues with cost and test performance continue to impede clinical adoption
      • Maternal-fetal medicines generally agree NIPT will replace conventional screening, but split on whether NIPT will replace invasive testing
      • Current MFM practices are generally in accord with recently published American College of Obstetricians and Gynecologists and the Society for MFM guidelines
    2. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes (pages 424–430)

      J. Besseau-Ayasse, C. Violle-Poirsier, A. Bazin, N. Gruchy, A. Moncla, F. Girard, M. Till, F. Mugneret, A. Coussement, F. Pelluard, M. Jimenez, P. Vago, M. F. Portnoï, C. Dupont, C. Beneteau, F. Amblard, M. Valduga, J. L. Bresson, F. Carré-Pigeon, N. Le Meur, S. Tapia, C. Yardin, A. Receveur, J. Lespinasse, E. Pipiras, M. P. Beaujard, P. Teboul, S. Brisset, M. Catty, E. Nowak, N. Douet Guilbert, H. Lallaoui, S. Bouquillon, V. Gatinois, G. Joly-Helas, F. Prieur, F. Cartault, D. Martin, P. Kleinfinger, D. Molina Gomes, M. Doco-Fenzy and F. Vialard

      Version of Record online: 12 FEB 2014 | DOI: 10.1002/pd.4321

      What's already known about this topic?

      • The 22q11.2 deletion (del22q11.2) is the most common microdeletion in humans. A few series have investigated the value of ultrasound findings in the prenatal diagnosis of this deletion. At present, the prenatal observation of a fetal heart defect tends to trigger an invasive procedure aimed at confirming or ruling out the presence of del22q11.2. However, no other morphological features have been considered as being important enough to trigger a prenatal diagnosis.

      What does this study add?

      • This retrospective study shows that prenatal testing for del22q11.2 was indeed mainly prompted by the observation of heart defects but that polyhydramnios, increased nuchal translucency and kidney, facial and thymus defects were also identified. Furthermore, there was a marked discrepancy between ultrasound and fetal autopsy findings: Fewer thymus or kidney abnormalities and facial dysmorphisms were identified with ultrasound. We observed that the parents' decision to terminate a pregnancy depended on the time of diagnosis but not on the inheritance pattern.
    3. Differential changes in gene expression in human brain during late first trimester and early second trimester of pregnancy (pages 431–437)

      J. I. Iruretagoyena, W. Davis, C. Bird, J. Olsen, R. Radue, A. Teo Broman, C. Kendziorski, S. Splinter BonDurant, T. Golos, I. Bird and D. Shah

      Version of Record online: 5 FEB 2014 | DOI: 10.1002/pd.4322

      What's already known about this topic?

      • Gene expression in animal models illustrating early fetal brain development. Gene expression in human fetuses affected by trisomy 21.

      What does this study add?

      • Database of normal gene expression for human fetal brain development during the 10 to 18 weeks of gestation highlights the major processes by gestational age, illustrates the transition between the first and second trimester in brain development and allows for comparison with known gene/chromosome abnormalities like trisomy 21.
    4. You have full text access to this OnlineOpen article
      Fetal diagnostic indications for second and third trimester outpatient pregnancy termination (pages 438–444)

      Warren M. Hern

      Version of Record online: 27 FEB 2014 | DOI: 10.1002/pd.4324

      What's already known about this topic?

      • Very few reports have been published on fetal diagnosis in abortions throughout the duration of pregnancy.
      • The published series have small numbers.

      What does this study add?

      • This study adds detailed information on the preoperative diagnosis for the indication for termination of more than 1000 pregnancies up to 39 weeks' gestation at a single private medical facility.
      • Performance of these procedures in a unique setting with a consistent protocol resulted in a low major complication rate (0.5%).
    5. Comparison of method of conception in fetuses undergoing echocardiography at a tertiary referral center (pages 445–449)

      Jodie K. Votava-Smith, Julie S. Glickstein, Lynn L. Simpson and Ismee A. Williams

      Version of Record online: 4 FEB 2014 | DOI: 10.1002/pd.4327

      What's already known about this topic?

      • Several studies have reported a higher rate of congenital heart disease (CHD) in children conceived by in vitro fertilization (IVF). The existing studies include normal fetal findings such as patent foramen ovale, patent ductus arteriosus, as well as noncardiac vascular anomalies, as CHD.
      • Recommendations have been made for all IVF pregnancies to undergo fetal echocardiography.

      What does this study add?

      • We found no association between IVF conception and CHD diagnosis in our population, which consisted of fetuses undergoing echocardiography at a tertiary care center.
    6. Rapid cervical phIGFBP-1 test in asymptomatic twin pregnancies: role in mid-pregnancy prediction of spontaneous preterm delivery (pages 450–459)

      Anna Fichera, Federico Prefumo, Cristina Zanardini, Valentina Stagnati and Tiziana Frusca

      Version of Record online: 20 FEB 2014 | DOI: 10.1002/pd.4328

      What's already known about this topic?

      • The presence of phIGFBP-1 in cervicovaginal fluid has been demonstrated to be a biomarker of the risk to deliver preterm in singleton pregnancies, but data on twin pregnancies are lacking.

      What this study add?

      • Rapid cervical phIGFBP-1 testing in asymptomatic twin pregnancies in the second trimester has a poor performance in predicting spontaneous preterm delivery <34 weeks.
    7. De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches (pages 460–468)

      Francesca Malvestiti, Simona De Toffol, Beatrice Grimi, Sara Chinetti, Livia Marcato, Cristina Agrati, Anna Maria Di Meco, Giuditta Frascoli, Anna Trotta, Barbara Malvestiti, Anna Ruggeri, Francesca Dulcetti, Federico Maggi, Giuseppe Simoni and Francesca Romana Grati

      Version of Record online: 11 FEB 2014 | DOI: 10.1002/pd.4330

      What's already known about this topic?

      • Frequency and characterization of de novo small supernumerary marker chromosomes detected in prenatal diagnosis on chorionic villi sampling and amniotic fluids.
      • Predominance of markers derived from 15 samples and the association with maternal age.

      What does this study add?

      • The rate of confirmation at amniocentesis of mosaic markers found in chorionic villi sampling considering the different combinations of the affected placental tissues and the lack of any uniparental disomy found for markers of imprinted chromosomes.
      • Workflow for de novo marker characterization in prenatal diagnosis based on our experience of 143 000 consecutive cases.
    8. High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm (pages 469–477)

      Tianjiao Chu, Suveyda Yeniterzi, Aleksandar Rajkovic, W. Allen Hogge, Mary Dunkel, Patricia Shaw, Kimberly Bunce and David G. Peters

      Version of Record online: 27 FEB 2014 | DOI: 10.1002/pd.4331

      What's already known about this topic?

      • Previously demonstrated that whole genome sequencing of maternal plasma DNA can be used for the non-invasive detection of fetal microdeletions and microduplications with resolution >1 Mb.

      What does this study add?

      • We show targeted sequencing can accurately increase the resolution of microdeletion / microduplication detection to 100 Kb.
      • Significantly fewer sequencing reads are required compared with whole genome approaches.
      • The method is scalable so that multiple genomic regions of interest can be included.
    9. Prenatal diagnosis of chromosomal mosaicism in over 1600 cases using array comparative genomic hybridization as a first line test (pages 478–486)

      Louise Carey, Fergus Scott, Kristi Murphy, Nerida Mansfield, Paulette Barahona, Don Leigh, Rob Robertson and Andrew McLennan

      Version of Record online: 17 FEB 2014 | DOI: 10.1002/pd.4332

      What's already known about this topic?

      • Chromosomal mosaicism is seen in 1–2% chorionic villus and 0.1–0.3% amniotic fluid.

      What does this study add?

      • Few array comparative genomic hybridization studies have examined the detection of mosaicism at prenatal diagnosis.
      • This study demonstrates that array comparative genomic hybridization as a first line investigation can detect mosaicism at levels as low as 9% whilst avoiding disadvantages such as culture bias, artifact, and culture failure.
    10. Cell fusion phenomena detected after in utero transplantation of Ds-red-harboring porcine amniotic fluid stem cells into EGFP transgenic mice (pages 487–495)

      Shao-Yu Peng, Yu-Hsu Chen, Chih-Jen Chou, Yao-Horng Wang, Hung-Maan Lee, Winston Teng-Kui Cheng, S. W. Steven Shaw and Shinn-Chih Wu

      Version of Record online: 14 FEB 2014 | DOI: 10.1002/pd.4334

      What's already known about this topic?

      • Human and mice amniotic fluid stem cells could be used in prenatal cell therapy and have been proved the stem cell potential by many studies. The engraftment, cell migration, or cell fusion could be found after in utero cell transplantation.

      What does this study add?

      • This is the first study using Ds-red transgenic porcine amniotic fluid stem cells for xenotransplantation into EGFP mice. The cell fusion phenomena could be detected in the organs of transplanted EGFP mice.
    11. You have full text access to this OnlineOpen article
      Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction (pages 496–499)

      J. Hooks, A. J. Wolfberg, E. T. Wang, C. A. Struble, J. Zahn, K. Juneau, M. Mohseni, S. Huang, P. Bogard, K. Song, A. Oliphant and T. J. Musci

      Version of Record online: 20 FEB 2014 | DOI: 10.1002/pd.4338

      What's already known about this topic?

      • Non-invasive prenatal testing using cell-free DNA from maternal plasma can analyze sex chromosomes in addition to autosomal chromosomes for aneuploidy screening.

      What does this study add?

      • This study demonstrates the accuracy of monosomy X risk assessment with the specific use of a directed analysis of cell-free DNA from maternal plasma with fetal fraction as an integral component of the analysis.
      • The study also educates the readership about the complex issues associated with sex chromosome aneuploidy screening with cell-free DNA.
    12. The usefulness of volume NT software in measuring the fetal nasal bone at 11 to 13 + 6 weeks of gestation (pages 500–504)

      Michela Nanni, Elisa Maroni, Maurizio Bevini, Gianpaolo Cucchi, Elettra Pignotti, Gianluigi Pilu, Nicola Rizzo and Tullio Ghi

      Version of Record online: 6 MAR 2014 | DOI: 10.1002/pd.4339

      What's already known about this topic?

      • Absence or hypoplasia of fetal nasal bones from 16 weeks onward is associated with a higher risk of trisomy 21.
      • An accurate measurement of fetal nasal bone at 11 to 13 + 6 weeks is more difficult to achieve than in the second trimester. Normal reference values for fetal nasal bone length at 11 to 13 + 6 weeks of pregnancy have been established using 2D ultrasound. The reproducibility of these data has been found to be inadequate by some authors.

      What does this study add?

      • The use of 3D ultrasound applying ‘Volume NT software’ helps to reach the real midsagittal plane of the fetal profile and allows an accurate and reproducible measurement of fetal nasal bone in the first trimester.
  3. Research Letter

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letter
    5. Correspondence
    1. Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy (pages 505–507)

      Georgina K. Hall, Fiona L. Mackie, Susan Hamilton, Alison Evans, Dominic J. McMullan, Denise Williams, Stephanie Allen and Mark D. Kilby

      Version of Record online: 14 FEB 2014 | DOI: 10.1002/pd.4333

      What's already known about this topic?

      • Mosaic autosomal aneuploidies detected prenatally complicate genetic counselling, despite the presence of relevant ultrasound scan anomalies.
      • Chromosomal microarray analysis is currently reported to detect mosaicism of between 10% and 30% prenatally.

      What does this study add?

      • Chromosomal microarray analysis is effective in detecting low level mosaic autosomal aneuploidy in a prenatal setting, which traditional methods may fail to detect.
      • This detection of low level mosaicism supports the use of chromosomal microarray analysis in prenatal diagnosis.
  4. Correspondence

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letter
    5. Correspondence

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