Prenatal Diagnosis

Cover image for Vol. 34 Issue 2

February 2014

Volume 34, Issue 2

Pages 103–203

  1. Original Articles

    1. Top of page
    2. Original Articles
    3. Research Letters
    4. Correspondence
    1. High macrosomia rate in healthy fetuses after enlarged nuchal translucency (pages 103–108)

      E. Timmerman, E. Pajkrt, R. J. M. Snijders and C. M. Bilardo

      Version of Record online: 8 JAN 2014 | DOI: 10.1002/pd.4262

      What's already known about this topic?

      • In a large proportion of fetuses with an enlarged NT, no anomalies are found, and a healthy baby is born. We found that in a population of healthy fetuses, macrosomia (birth weight ≥P95) was more common in case of enlarged NT.

      What does this study add?

      • A minimal degree of NT enlargement in fetuses without genetic or structural anomalies can be an early manifestation of a healthy large fetus.
    2. The vertebral artery Doppler might be an alternative to the middle cerebral artery Doppler in the follow-up of the early onset growth-restricted fetus (pages 109–114)

      José Morales Roselló, David Hervás Marín and Alfredo Perales Marín

      Version of Record online: 11 DEC 2013 | DOI: 10.1002/pd.4263

      What's already known about this topic?

      • This is a new research area. No study has evaluated the fetal vertebral and middle cerebral Doppler in fetuses with early-onset growth restriction.

      What does this study add?

      • Growth-restricted fetuses with absent umbilical diastolic flow present Doppler changes in the fetal vertebral artery similar to those observed in the middle cerebral artery. Doppler evaluation of the fetal vertebral artery might be an alternative to the assessment of the middle cerebral artery.
    3. Doppler evaluation of the posterior cerebral artery in normally grown and growth restricted fetuses (pages 115–120)

      Jesus Andres Benavides-Serralde, Edgar Hernandez-Andrade, Rogelio Cruz-Martinez, Mónica Cruz-Lemini, Matthias Scheier, Francesc Figueras, Javier Mancilla and Eduard Gratacos

      Version of Record online: 29 NOV 2013 | DOI: 10.1002/pd.4265

      What's already known about this topic?

      • Fetal brain vasodilation in intrauterine growth restricted fetuses has been extensively studied in the middle cerebral artery and has been related with abnormal neurological outcome. However, a large proportion of intrauterine growth restricted fetuses with normal blood flow in the middle cerebral artery still can have an abnormal neurodevelopment.

      What does this study add?

      • The evaluation of the posterior cerebral artery provides additional information on the process of brain vasodilatation and contributes in the identification of fetuses with a higher risk of an abnormal neurological outcome.
    4. The impact of HIV infection and antiretroviral therapy on the predicted risk of Down syndrome (pages 121–127)

      Thomas G. Charlton, Jamie M. Franklin, Melanie Douglas, Charlotte E. Short, Ian Mills, Rachel Smith, Amanda Clarke, John Smith, Pat A. Tookey, Mario Cortina-Borja and Graham P. Taylor

      Version of Record online: 28 NOV 2013 | DOI: 10.1002/pd.4267

      What's already known about this topic?

      • Increases in human chorionic gonadotrophin and α-fetoprotein and decreases in unconjugated estriol have been reported in HIV-positive pregnant women
      • This may impact the interpretation of biochemical Down syndrome screening tests

      What does this study add?

      • When based on biochemical assays, pregnant women with untreated HIV infection receive final Down syndrome risk reports significantly higher than matched HIV-uninfected controls.
      • There is no increase risk of Down syndrome in HIV-infected women in the UK.
      • The HIV status of all pregnant women should be known prior to interpretation of Down syndrome risk (based on second trimester triple test) and invasive diagnostics.
    5. Umbilical artery systolic to diastolic ratio is associated with growth and myocardial performance in infants with hypoplastic left heart syndrome (pages 128–133)

      Thomas A. Miller, Lisa Joss-Moore, Shaji C. Menon, Cindy Weng and Michael D. Puchalski

      Version of Record online: 28 NOV 2013 | DOI: 10.1002/pd.4268

      What's already known about this topic?

      • Low birth weight infants, as a cohort, suffer increased rates of morbidity and mortality following surgical palliation for HLHS, but some individuals do very well.
      • Uteroplacental insufficiency (UPI) is an in utero stressor that increases the risk of cardiovascular disease in the absence of structural heart disease.

      What does this study add?

      • Although birth weight is multifactorial, UPI may compound morbidity by its effect on growth and myocardial performance in HLHS.
    6. Biparietal diameter at 11 to 13 weeks' gestation in fetuses with holoprosencephaly (pages 134–138)

      Asma Khalil, Aris Papageorghiou, Amar Bhide, Ranjit Akolekar and Basky Thilaganathan

      Version of Record online: 29 NOV 2013 | DOI: 10.1002/pd.4269

      What's already known about this topic?

      • First trimester diagnosis of alobar holoprosencephaly is based on the visualization of a single ventricle.
      • Failure to identify the ‘butterfly sign’ at 11 to 13 weeks is a warning sign.
      • The detection rate in the first trimester is approximately 78%.

      What does this study add?

      • Biparietal diameter values at 11 to 13 weeks were significantly smaller. They were below the 5th centile in 32.4% of cases and below the 50th centile in 67.6%.
    7. Application of multiplex SNaPshot assay in measurement of PLAC4 RNA-SNP allelic ratio for noninvasive prenatal detection of trisomy 21 (pages 139–144)

      Lan Yang, Haiyan Sun, Daozhen Chen, Mudan Lu, Junfeng Wang, Fei Xu, Lingqing Hu and Jianpin Xiao

      Version of Record online: 20 DEC 2013 | DOI: 10.1002/pd.4271

      What's already known about this topic?

      • Noninvasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single-nucleotide polymorphism (SNP) in circulating placental messenger RNA in maternal plasma with digital PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
      • The equipment and operating costs of those methods are high.

      What does this study add?

      • In this study, we developed a molecular technology – Multiple SNaPshot assay – with rapidity, accuracy, and lower cost for noninvasive prenatal detection of trisomy 21.
    8. Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing (pages 145–152)

      Peter Benn, Audrey R. Chapman, Kristine Erickson, Mark S. DeFrancesco, Louise Wilkins-Haug, James F. X. Egan and Jay Schulkin

      Version of Record online: 16 DEC 2013 | DOI: 10.1002/pd.4272

      What's already known about this topic?

      • Carrier screening for single-gene disorders can be substantially expanded as a result of developments in molecular genetics technology.
      • Cell-free DNA in maternal plasma can be used to noninvasively test for a number of fetal genetic conditions.

      What does this study add?

      • This survey provides some of the first indications of obstetricians' concerns and opinions regarding expanded carrier screening and noninvasive testing.
      • The surveyed obstetricians seek support from genetic counselors and value professional guidelines to aid in the optimal introduction of these new technologies.
    9. Attitudes of Saudi parents with a deaf child towards prenatal diagnosis and termination of pregnancy (pages 153–158)

      Ayman Alsulaiman, Ahmed Mousa, Altaf A. Kondkar and Khaled K. Abu-Amero

      Version of Record online: 28 NOV 2013 | DOI: 10.1002/pd.4273

      What's already known about this topic?

      • In the Saudi society, attitude toward prenatal diagnosis and termination of pregnancy is influenced by the severity of the condition.

      What does this study add?

      • Among Saudi parents with deaf children, attitudes toward prenatal diagnosis and termination of pregnancy for various medical and genetic conditions are mainly influenced by cultural issues and they are different between women and men.
      • Deafness ranked high for conditions justifying termination of pregnancy among Saudi females.
    10. Elevated first trimester PAPP-A is associated with increased risk of placenta accreta (pages 159–162)

      N. Desai, D. Krantz, A. Roman, A. Fleischer, S. Boulis and B. Rochelson

      Version of Record online: 9 DEC 2013 | DOI: 10.1002/pd.4277

      What's already known about this topic?

      • Placenta accreta can be suspected on the basis of clinical risk factors and imaging findings.
      • Prenatal diagnosis and preoperative planning may help to reduce morbidity.

      What does this study add?

      • This study adds an additional early marker to increase our detection of this condition.
    11. Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally (pages 163–167)

      M. A. Dempsey, A. E. Knight Johnson, B. S. Swope, J. S. Moldenhauer, H. Sroka, K. Chong, D. Chitayat, L. Briere, H. Lyon, N. Palmer, S. Gopalani, J. R. Siebert, S. Lévesque, J. LeBlanc, D. Menzies, E. Haverfield and S. Das

      Version of Record online: 9 DEC 2013 | DOI: 10.1002/pd.4279

      What's already known about this topic?

      • The diagnosis of Cornelia de Lange syndrome can be suspected in the second and third trimesters; however, confirmation of the diagnosis is typically based on facial findings after birth, and molecular testing is also typically performed postnatally.

      What does this study add?

      • This study is the first to look at a series of prenatal cases with a suspected diagnosis of Cornelia de Lange syndrome and determine the frequency of NIPBL mutations.
      • In our cohort, the mutation detection rate of NIPBL sequencing was higher than the published 60% detection rate for postnatally diagnosed cases. In particular, mutation detection rate is very high in cases with severe micrognathia and bilateral upper limb defects.
    12. First trimester maternal serum alpha-fetoprotein is not raised in pregnancies with open spina bifida (pages 168–171)

      Kevin Spencer, Asma Khalil, Louise Brown, Ian Mills and Hannah Horne

      Version of Record online: 9 DEC 2013 | DOI: 10.1002/pd.4280

      What's already known about this topic?

      • An early longitudinal study showed that maternal serum AFP levels were not raised in pregnancies with a fetus with open spina bifida until the second trimester.
      • Two recent studies have shown first trimester levels of AFP to be increased with levels of 1.75 and 1.20 MoM.
      • Maternal serum free β-hCG was reduced in one study in cases with open spina bifida.

      What does this study add?

      • Maternal serum AFP levels were not elevated in pregnancies with open spina bifida in the first trimester in our study.
      • Free β-hCG and PAPP-A were also normal in pregnancies with a fetus with open spina bifida.
      • Maternal serum biochemical markers are unhelpful in screening for open spina bifida in the first trimester.
      • In a subset with confirmed diagnosis by fetal examination AFP levels were not different from the control group.
    13. Prediction of obstetrical risk using maternal serum markers and clinical risk factors (pages 172–179)

      Amy Metcalfe, Sylvie Langlois, Julie MacFarlane, Hilary Vallance and K. S. Joseph

      Version of Record online: 11 DEC 2013 | DOI: 10.1002/pd.4281

      What's already known about this topic?

      • Multiple studies have shown that abnormal levels of serum markers collected for aneuploidy screening are associated with adverse outcomes in pregnancies with euploid fetuses.
      • However, the predictive value of isolated abnormal serum markers is low and not clinically useful in this context.

      What does this study add?

      • This study shows that the predictive ability of serum markers can be enhanced by altering the threshold for defining ‘abnormal’.
      • Furthermore, the combination of information on serum markers in the current pregnancy and past obstetrical history can identify a small subset of women at higher risk for serious perinatal events (stillbirth, preterm birth <32 weeks, or HELLP syndrome) and severe pre-eclampsia.
    14. You have free access to this content
      Development and use of a high-fidelity simulator for fetal endotracheal balloon occlusion (FETO) insertion and removal (pages 180–184)

      Rory Windrim, Greg Ryan, Francis LeBouthillier, Paolo Campisi, Edmond N. Kelly, David Baud, Shi-Joon Yoo and Jan Deprest

      Version of Record online: 27 DEC 2013 | DOI: 10.1002/pd.4284

      What's already known about this topic?

      • There is no published report of a fetal simulator for fetal airway therapy. There is no information regarding whether or not a simulator will aid the development in surgical skill with fetal endotracheal balloon occlusion and removal.

      What does this study add?

      • This study reports the development of a high-fidelity simulator for fetal endotracheal balloon occlusion and high approval with its use by a training team.
    15. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe (pages 185–191)

      Markus Stumm, Michael Entezami, Karsten Haug, Cornelia Blank, Max Wüstemann, Bernt Schulze, Gisela Raabe-Meyer, Maja Hempel, Markus Schelling, Eva Ostermayer, Sabine Langer-Freitag, Tilo Burkhardt, Roland Zimmermann, Tina Schleicher, Bernd Weil, Ulrike Schöck, Patricia Smerdka, Sebastian Grömminger, Yadhu Kumar and Wera Hofmann

      Version of Record online: 12 DEC 2013 | DOI: 10.1002/pd.4278

      What's already known about this topic?

      • Non-invasive prenatal detection of fetal trisomies 13, 18 and 21 is achievable by massively parallel sequencing of maternal plasma DNA.

      What does this study add?

      • We demonstrated that our established non-invasive prenatal test for common autosomal aneuploidies has a high analytical accuracy for populations in Germany and Switzerland.
  2. Research Letters

    1. Top of page
    2. Original Articles
    3. Research Letters
    4. Correspondence
    1. Severe fetal ischaemic brain injury caused by homozygous protein C deficiency (pages 192–194)

      C. Stutterd, H. Savoia, A. M. Fink and Z. Stark

      Version of Record online: 15 NOV 2013 | DOI: 10.1002/pd.4251

      What's already known about this topic?

      • Homozygous protein C deficiency classically presents in newborns with purpura fulminans, ophthalmic complications and thrombotic stroke.
      • Diagnosis enables accurate recurrence risk counselling and has implications for future pregnancies.

      What does this study add?

      • Homozygous protein C deficiency can present antenatally with ventriculomegaly secondary to thrombosis.
      • The diagnosis should be considered in this setting, even in the absence of consanguinity.
      • Analysis of regions of homozygosity identified by single nucleotide polymorphism microarray can guide diagnostic testing for rare recessive conditions.
    2. You have free access to this content
      Complexity of noninvasive prenatal screening and diagnostic testing for an unbalanced translocation involving chromosomes 5 and 18 (pages 195–198)

      H. Feenstra, T. Dunn, D. Lewis, K. Herrera, J. Foroutan, R. Calabio, A. Batey, E. Wang and J. A. Gebbia

      Version of Record online: 28 NOV 2013 | DOI: 10.1002/pd.4270

      What's already known about this topic?

      • Noninvasive prenatal screening (NIPS) via cell-free DNA analysis of maternal blood has been validated for detection of Trisomy 18 with a sensitivity of 97.4% (95% CI: 93–100%) and false positive rate of 0.07% (95% CI: 0.0–0.3%). (Confidence intervals provided are for Ariosa Diagnostics as this lab was involved with our case; however, the sensitively and specificity of NIPS vary slightly depending on the company performing the testing).
      • Parental balanced reciprocal translocations are known to result in the potential for offspring with unbalanced chromosome material and significant effects on physical and intellectual development, as well as lifespan.

      What does this study add?

      • A case report of NIPS results when a fetus has an unbalanced translocation involving one of the chromosomes that is being tested via cell-free DNA.
      • Natural history information of a child born with Cri-du-Chat syndrome and partial Trisomy 18 concurrently.

      © 2013 John Wiley & Sons, Ltd.

    3. Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases (pages 199–201)

      R. B. Dugan, M. A. Pletneva, K. Salari, D. R. Berman and M. C. Treadwell

      Version of Record online: 28 NOV 2013 | DOI: 10.1002/pd.4274

      What's already known about this topic?

      • Nonimmune fetal hydrops (NIFH) is a heterogeneous condition and establishing a diagnosis can be challenging.
      • Inborn errors of metabolism are one of many possible etiologies for NIFH.
      • Inborn errors of metabolism are often missed in utero.

      What does this study add?

      • We present two cases of NIFH caused by underlying lysosomal storage disease: galactosialidosis and mucopolysaccharidosis type VII.
      • The unique finding of vacuolated lymphocytes in fetal peritoneal fluid lead to the diagnosis.
  3. Correspondence

    1. Top of page
    2. Original Articles
    3. Research Letters
    4. Correspondence
    1. Comment on “The ductus venosus: proposal for a uniform anatomical definition” (pages 202–203)

      Nicole Birgit Burger, Monique Cecile Haak and Mireille Nicole Bekker

      Version of Record online: 3 FEB 2014 | DOI: 10.1002/pd.4289

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