Prenatal Diagnosis

Cover image for Vol. 33 Issue 9

September 2013

Volume 33, Issue 9

Pages 813–913

  1. Obituary

    1. Top of page
    2. Obituary
    3. Review
    4. Original Articles
    5. Research Letters
    6. Correspondence
    1. Dr Jacob (Jack) Canick – an appreciation (pages 813–814)

      Nicholas J. Wald, Geralyn Lambert-Messerlian and Glenn E. Palomaki

      Version of Record online: 2 SEP 2013 | DOI: 10.1002/pd.4186

  2. Review

    1. Top of page
    2. Obituary
    3. Review
    4. Original Articles
    5. Research Letters
    6. Correspondence
    1. You have free access to this content
      Long-term neurodevelopmental and cardiovascular outcome after intrauterine transfusions for fetal anaemia: a review (pages 815–822)

      Irene T. M. Lindenburg, Jeanine M. van Klink, Vivianne E. H. J. Smits-Wintjens, Inge L. van Kamp, Dick Oepkes and Enrico Lopriore

      Version of Record online: 3 JUN 2013 | DOI: 10.1002/pd.4152

      What's already known about this topic?

      • IUT is the international standard treatment for severe fetal anaemia.
      • Short-term perinatal outcome after IUT for red cell alloimmunisation is good, with perinatal survival rates exceeding 90% in experienced centres.

      What does this study add?

      • Long-term neurodevelopmental outcome after IUT for maternal red cell alloimmunisation is favourable as the vast majority (>95%) of children have a normal neurodevelopmental outcome.
      • Severe fetal hydrops is a risk factor for adverse long-term outcome.
      • The risk of neurodevelopmental impairment in long-term survivors after IUT for parvovirus B19 infection appears to be increased.
      • The impact of severe fetal anaemia on cardiovascular disease into adult life has not been investigated and requires further study.
  3. Original Articles

    1. Top of page
    2. Obituary
    3. Review
    4. Original Articles
    5. Research Letters
    6. Correspondence
    1. Maternal serum cytokines at 30–33 weeks in the prediction of preeclampsia (pages 823–830)

      Beatrice Mosimann, Marion Wagner, Leona C.Y. Poon, Amolak S. Bansal and Kypros H. Nicolaides

      Version of Record online: 3 JUN 2013 | DOI: 10.1002/pd.4129

      What's already known about this topic?

      • In pregnant women with preeclampsia, the circulating maternal serum levels of many cytokines are increased. Little is known about their levels prior to the onset of clinical signs of preeclampsia.

      What does this study add?

      • Most cytokines are not different in women who will develop preeclampsia compared with healthy controls. This questions the role of significant immune dysfunction and systemic inflammation prior to the onset of preeclampsia.
    2. Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement (pages 831–838)

      Ingrid B. Sinnerbrink, Amanda Sherwen, Bettina Meiser, Jane Halliday, David J. Amor, Elizabeth Waters, Felicity Rea, Elizabeth Evans, Belinda Rahman and Edwin P. Kirk

      Version of Record online: 17 MAY 2013 | DOI: 10.1002/pd.4131

      What's already known about this topic?

      • De novo apparently balanced chromosome rearrangements (ABCRs) are detected in approximately 1 in 800 to 1 in 1000 prenatal tests.
      • On the basis of short-term follow-up data, the reported risks of congenital abnormalities in prenatally detected de novo ABCRs vary from 6.1 to 12.5%.

      What does this study add?

      • This study suggests that children with prenatally diagnosed de novo ABCRs have similar long-term health and developmental outcomes as children of the same age in the general population.
    3. Association between first-trimester maternal serum pregnancy-associated plasma protein-A and obstetric complications (pages 839–847)

      Francesco D'Antonio, Claudia Rijo, Basky Thilaganathan, Ranjit Akolekar, Asma Khalil, Aris Papageourgiou and Amar Bhide

      Version of Record online: 10 JUL 2013 | DOI: 10.1002/pd.4141

      What's already known about this topic?

      • Low first-trimester pregnancy-associated placental protein-A (PAPP-A) is linked with many pregnancy complications such as preeclampsia, SGA fetus and preterm birth.

      What does this study add?

      • Apart from adding data of several thousand women, this study quantifies the extent of the increase in the risk for these complications by a review of the published literature. This information will be useful to inform mothers with low first-trimester levels of serum PAPP-A.
    4. Methylation metabolites in amniotic fluid depend on gestational age (pages 848–855)

      Apolline Imbard, Henk J. Blom, Dimitri Schlemmer, Rob Barto, Isabelle Czerkiewicz, Odile Rigal, Françoise Muller and Jean-François Benoist

      Version of Record online: 31 MAY 2013 | DOI: 10.1002/pd.4142

      What's already known about this topic?

      • Methylation metabolism is essential for the fetus development.

      What does this study add?

      • This article provides detailed normative data for AF concentrations of methylation intermediates at different gestational ages. These data are of importance to provide a base to explore the involvement of remethylation pathway in the physiopathology of disorders such as neural tube defects, inborn errors of metabolism, and others for which transmethylation impairment has been suggested such as cancer and epigenetic modification.
    5. Increased nuchal translucency and pregnancy outcome: a retrospective study of 1063 consecutive singleton pregnancies in a single referral institution (pages 856–862)

      Outi Äyräs, Minna Tikkanen, Marianne Eronen, Jorma Paavonen and Vedran Stefanovic

      Version of Record online: 16 MAY 2013 | DOI: 10.1002/pd.4143

      What is already known about this topic?

      • Increased nuchal translucency is associated with chromosomal defects, structural defects, and genetic syndromes.
      • The thicker the nuchal translucency, the worse the prognosis for pregnancy; this applies also to fetuses with normal karyotype.

      What does this study add?

      • Even minimally increased nuchal translucency thickness (95th percentile – 3.4 mm) is associated with adverse pregnancy outcome. However, in euploid pregnancies with normal second trimester ultrasound, favorable outcome occurs in 97% of cases.
      • This study contains a large number of fetuses, and the obtained results are of essential importance for parental counseling.
    6. Early anatomy ultrasound in women at increased risk of fetal anomalies (pages 863–868)

      Janice Lim, Wendy L. Whittle, Yee-Man Lee, Greg Ryan and Tim Van Mieghem

      Version of Record online: 16 MAY 2013 | DOI: 10.1002/pd.4145

      What's already known about this topic?

      • Fetal anatomy assessment between 11–13 weeks gestation can detect 40–50% of congenital anomalies.

      What does this study add?

      • Ultrasound between 12+0 and 16+6 weeks gestation in women at high risk of fetal anomalies detects >70% of fetal anomalies, therefore supporting examination slightly later than the first trimester in a high-risk population.
      • False positivity rate of early anatomy ultrasound is 4.0%.
    7. Prenatal control of nondeletional α-thalassemia: first experience in mainland China (pages 869–872)

      Jian Li, Ru Li, Jian-Ying Zhou, Xing-Mei Xie, Can Liao and Dong-Zhi Li

      Version of Record online: 21 MAY 2013 | DOI: 10.1002/pd.4149

      What's already known about this topic?

      • Nondeletional α-thalassemia is undetectable by routine Hb electrophoresis owing to the unstable nature of the hemoglobin.
      • Nondeletional Hb H disease has a more severe clinical course than the deletional form; some of patients with the former form are transfusion dependent, whereas patients with the latter form rarely require regular transfusion.

      What does this study add?

      • An investigation for common nondeletional α-thalassemias has been considered a step in the flowchart for detection of couples at risk for α-thalassemia.
      • Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China.
    8. Global gene expression analysis of amniotic fluid cell-free RNA from recipient twins with twin–twin transfusion syndrome (pages 873–883)

      Lisa Hui, Heather C. Wick, Kenneth J. Moise Jr., Anthony Johnson, Francois Luks, Sina Haeri, Kirby L. Johnson and Diana W. Bianchi

      Version of Record online: 4 JUN 2013 | DOI: 10.1002/pd.4150

      What's already known about this topic?

      • Twin–twin transfusion syndrome (TTTS) survivors are at increased risk for neurological and cardiovascular complications even after prenatal therapy.

      What does this study add?

      • This study provides the first transcriptome-wide data on the impact of TTTS on fetal development.
      • The results show that gene expression involving neurological and cardiovascular pathways is altered in recipient fetuses prior to surgical treatment.
      • This has relevance for postnatal complications and the development of future biomarkers.
    9. Age independent first trimester screening for Down syndrome: improvement in test performance (pages 884–888)

      M. A. J. Engels, J. W. R. Twisk, M. A. Blankenstein and J. M. G. van Vugt

      Version of Record online: 31 MAY 2013 | DOI: 10.1002/pd.4153

      What's already know about the topic?

      • With the first trimester combined test including maternal age risk in the algorithm, more older women have a false positive result due to the higher maternal age risk, and in younger women, the lower maternal age risk results in an increase in the number of false negative cases. In several small population studies, elimination of background maternal age risk from the algorithm improved screening performance.

      What does this study add?

      • Large population study shows that exclusion of maternal age risk leads to a significant decreased likelihood of receiving a false positive prediction with a comparable likelihood of receiving a true positive prediction. Moreover, false positive rate is the same for women of all ages. Introduction of the AR method will take away the misunderstanding about differences in screening performance for women of different ages. This might lead to a higher uptake of first trimester screening resulting in a more efficient screening policy.
    10. The influence of image setting on intracranial translucency measurement by manual and semi-automated system (pages 889–893)

      Li Zhen, Xin Yang, Yuen Ha Ting, Min Chen and Tak Yeung Leung

      Version of Record online: 31 MAY 2013 | DOI: 10.1002/pd.4154

      What's already known about this topic?

      • Post-processing image settings had a significant effect on nuchal translucency measurements taken by semi-automated methods

      What does this study add?

      • The image settings affect IT identification and measurement.
    11. What is predictive of preterm delivery in the first trimester: isthmus or cervical length? (pages 894–898)

      Nicolas Sananès, Elodie Schuller, Adrien Gaudineau, Monique Kohler, Fernando Guerra, Anne-Sophie Weingertner, Gabrielle Fritz, Brigitte Viville, Bruno Langer, Israël Nisand and Romain Favre

      Version of Record online: 7 JUN 2013 | DOI: 10.1002/pd.4158

      What's already know about the topic?

      • Several studies have shown the utility of echographic measurement of the cervix in the first trimester of gestation for predicting cases of preterm delivery.

      What does this study add?

      • Prediction of preterm delivery is related to length at the isthmus rather than sthe cervix itself.
    12. Opinions and practice patterns of obstetricians–gynecologists in the United States regarding amniocentesis in twins (pages 899–903)

      Joy Vink, Britta Anderson, Karin Fuchs, Jay Schulkin and Mary E. D'Alton

      Version of Record online: 17 JUN 2013 | DOI: 10.1002/pd.4164

      What's already know about the topic?

      • Accurate amniocentesis-related pregnancy loss (ARL) rates for twin gestations remains elusive due to varying ARL definitions in the literature.

      What does this study add?

      • This study sought to establish how OB/GYNs counsel and define amniocentesis-related loss in twins. The data from this study will be useful in determining a standard definition of ‘procedure-related loss’, which can be used in large prospective twin registries to determine the true procedure-related loss rates after amniocentesis in twin gestations.
    13. Lack of institutional pathways for referral: results of a survey among pediatric surgeons on prenatal consultation for congenital anomalies (pages 904–907)

      Lucia Aite, Antonio Zaccara, Marina Cuttini, Nadia Mirante, Antonella Nahom and Pietro Bagolan

      Version of Record online: 4 JUL 2013 | DOI: 10.1002/pd.4165

      What's already known about this topic?

      • Prenatal surgical consultation affect perinatal course of fetuses with congenital malformations.
      • Consultation also affects parents' adaptation to the communication of diagnosis.

      What does this study add?

      • Insights about different pathways through which general pediatric surgeon gets couples referred for prenatal consultation after diagnosis of a surgically correctable anomaly.
  4. Research Letters

    1. Top of page
    2. Obituary
    3. Review
    4. Original Articles
    5. Research Letters
    6. Correspondence
    1. The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia (pages 908–909)

      Paul Maurice, Dominique Eyrolle-Guignot, Ferdinand Dhombres, Catherine Garel, Marie Gonzales, Françoise Muller and Jean-Marie Jouannic

      Version of Record online: 30 MAY 2013 | DOI: 10.1002/pd.4137

      What's already known about this topic?

      • In de novo cases of genodermatoses, direct prenatal ultrasound may lead to a strong suspicion in only very few cases, mainly represented by the most severe form of congenital ichthyosis. For others, including epidermolysis bullosa and disorders of pigmentation, fetal skin lesions are not accessible to prenatal ultrasound examination.

      What does this study add?

      • Certain prenatal diagnosis of de novo cases of epidermolysis bullosa is feasible when all biological and clinical patterns are present without the need for histological confirmation.
      • These cardinal signs are represented by (1) unexplained polyhydramnios with high AFP levels in the amniotic fluid (>20 MoM), (2) the presence of an unusual addition slow band on acetylcholinesterase electrophoresis and (3) the presence of a dilated stomach suggestive of pyloric atresia.
    2. Detection rates of the Fetal Anomaly Screening Programme (FASP) 11 key conditions in one unit: is the recommended annual audit of any value? (pages 910–912)

      Graham Tydeman, Isobel Clegg and Sharon Brown

      Version of Record online: 8 JUN 2013 | DOI: 10.1002/pd.4151

      What's already known on this topic?

      • Detection rates of some of the prenatal conditions have been established only from long term regional or national studies.
      • No previous published work has evaluated whether the Fetal Anomaly Screening Programme recommendation that individual units should annually audit their detection rates of 11 major conditions is of value.

      What does this study add?

      • As they stand, the UK national recommendations for annual audit are of minimal value in the short term.
      • Conditions of low prevalence and high detection rate are the least useful indicators of performance.
      • We suggest that the auditing recommendations could be improved by grouping conditions and by expanding the target gestational age (e.g. up to 21 weeks rather than within the 18–20 + 6 period recommended by Fetal Anomaly Scan).
  5. Correspondence

    1. Top of page
    2. Obituary
    3. Review
    4. Original Articles
    5. Research Letters
    6. Correspondence
    1. You have full text access to this OnlineOpen article

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