Prenatal Diagnosis

Cover image for Vol. 34 Issue 3

March 2014

Volume 34, Issue 3

Pages 205–305

  1. Review

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letters
    5. Correspondence
    1. Cerebral injury in monochorionic twins with selective intrauterine growth restriction: a systematic review (pages 205–213)

      M. J. Inklaar, J. M. M. van Klink, T. T. Stolk, E. W. van Zwet, D. Oepkes and E. Lopriore

      Article first published online: 13 JAN 2014 | DOI: 10.1002/pd.4298

      What's already known about this topic?

      • sIUGR may occur in up to 25% of monochorionic twin pregnancies.
      • The main cause of sIUGR is related to unequal placenta sharing, in which the growth restricted fetus often has a small placental share and a velamentous cord insertion.
      • The optimal management in monochorionic twins with sIUGR is not clear and international consensus on the best treatment strategy is lacking.

      What does this study add?

      • The average incidence of severe cerebral injury in monochorionic twins with sIUGR is approximately 8%, but varies greatly between the studies from 0% up to 33%.
      • Severe cerebral injury in monochorionic twins with sIUGR is associated with abnormal umbilical artery Doppler, intrauterine fetal demise and low gestational age at birth.
  2. Original Articles

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letters
    5. Correspondence
    1. You have free access to this content
      Prenatal diagnosis of nonsyndromic congenital heart defects (pages 214–222)

      Elizabeth C. Ailes, Suzanne M. Gilboa, Tiffany Riehle-Colarusso, Candice Y. Johnson, Charlotte A. Hobbs, Adolfo Correa, Margaret A. Honein and The National Birth Defects Prevention Study

      Article first published online: 17 DEC 2013 | DOI: 10.1002/pd.4282

      What's already known about this topic?

      • Prenatal diagnosis of congenital heart defects (CHD) can lead to more timely interventions which may improve outcomes

      What does this study add?

      • 15% of mothers with a CHD-affected pregnancy reported receiving a prenatal diagnosis
      • Prenatal diagnosis varied by infant/fetal characteristics such as CHD type, CHD complexity and presence of extracardiac defects; maternal factors including age, race/ethnicity, family history of CHD, plurality, prepregnancy diabetes, hypertension, and body mass index; and NBDPS study site and time to interview
    2. Fetal heart pathology on postmortem 3-T magnetic resonance imaging (pages 223–229)

      Inga Sandaite, Steven Dymarkowski, Luc De Catte, Philippe Moerman, Marc Gewillig, Luigi Fedele, Jan Deprest and Filip Claus

      Article first published online: 26 DEC 2013 | DOI: 10.1002/pd.4283

      What's already known about this topic?

      • Postmortem cardiac magnetic resonance imaging evaluation using 3-T equipment allows the demonstration of normal cardiac anatomy and biometry in fetuses beyond 14 weeks.

      What does this study add?

      • This study demonstrates that complex cases of congenital heart defects at gestational ages beyond 16 weeks are good candidates to complement or replace conventional autopsy by postmortem cardiac magnetic resonance imaging.
    3. Prenatal ultrasound evaluation of fetal Hb Bart's disease among pregnancies at risk at 11 to 14 weeks of gestation (pages 230–234)

      Supatra Sirichotiyakul, Suchaya Luewan, Kasemsri Srisupundit, Fuanglada Tongprasert and Theera Tongsong

      Article first published online: 20 DEC 2013 | DOI: 10.1002/pd.4293

      What's already known about this topic?

      • Sonomarkers at mid-pregnancy can effectively predict hemoglobin Bart's disease among fetuses at risk.

      What does this study add?

      • Cardiothoracic ratio plus middle cerebral artery peak systolic velocity can effectively differentiate fetuses with hemoglobin Bart's disease from unaffected pregnancies at 11 to 14 weeks of gestation.
    4. Longer time-to-pregnancy in spontaneously conceived pregnancies is associated with lower PAPP-A and free β-hCG in first trimester screening for Down syndrome (pages 235–240)

      I. Kirkegaard, N. Uldbjerg, A. Tabor and T. B. Henriksen

      Article first published online: 7 JAN 2014 | DOI: 10.1002/pd.4295

      What's already known about this topic?

      • First trimester pregnancy-associated plasma protein-A levels are lower in pregnancies conceived as a result of assisted reproduction technologies (ART), especially in vitro fertilization.
      • Levels of free beta-human chorionic gonadotrophin may also be altered in ART pregnancies.
      • The mechanisms behind these alterations are unknown.

      What does this study add?

      • Prolonged time-to-pregnancy results in decreased levels of pregnancy-associated plasma protein-A and free beta-human chorionic gonadotrophin.
      • Some of the lower values seen in ART pregnancies could be related to subfertility instead of infertility treatment.
    5. Reference values for fetal aortic isthmus blood flow parameters at 24 to 38 weeks' gestation (pages 241–245)

      Sornlada Thanasuan, Nisarat Phithakwatchara and Katika Nawapan

      Article first published online: 8 JAN 2014 | DOI: 10.1002/pd.4296

      What's already known about this topic?

      • Increased pulsatility index of the fetal aortic isthmus is associated with higher risk of adverse perinatal outcomes in fetal growth restriction.
      • Fetal aortic isthmus pulsatility index, peak systolic velocity, and time-averaged maximum velocity are correlated with gestational age in the second half of pregnancy.

      What does this study add?

      • Nomograms of fetal aortic isthmus Doppler indices in the second half of pregnancy were created with high reproducibility, which may be useful for fetal surveillance.
    6. Prenatal β-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice (pages 246–250)

      Nicole E. Cousens, Clara L. Gaff, Martin B. Delatycki and Sylvia A. Metcalfe

      Article first published online: 19 JAN 2014 | DOI: 10.1002/pd.4297

      What's already known about this topic?

      • β-thalassemia carrier screening in Australia is not coordinated.
      • Most β-thalassemia carriers are identified as a result of a full blood examination performed early in pregnancy.

      What does this study add?

      • The process of carrier screening pregnant women for β-thalassemia in Australia is inconsistent.
      • Health professionals value a more systematic, orderly process, and education about screening.
      • Informed consent, in its strictest sense, is not considered an important component of the screening process.
    7. Investigation of biological factors influencing the placental mRNA profile in maternal plasma (pages 251–258)

      Nancy B. Y. Tsui, Cesar S. C. Wong, Katherine C. K. Chow, Elena S. F. Lo and Yvonne K. Y. Cheng

      Article first published online: 10 JAN 2014 | DOI: 10.1002/pd.4300

      What's already known about this topic?

      • The analysis of fetal RNA in maternal plasma holds promise for noninvasive prenatal investigation.
      • The placenta is believed to be an important source of circulating fetal RNA.

      What does this study add?

      • We revealed that the maternal plasma profile of placental-derived RNAs was not solely depending on gene expression levels in the placenta.
      • Instead, there appears to be differences in the release of different placental transcripts into maternal plasma.
    8. Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007–2009) (pages 259–264)

      Jacqueline E. Siljee, Alida C. Knegt, Maarten F. C. M. Knapen, Mireille N. Bekker, Gerard. H. A. Visser and Peter C. J. I. Schielen

      Article first published online: 23 JAN 2014 | DOI: 10.1002/pd.4302

      What's already known about this topic?

      • Reports on positive predictive value and termination of pregnancy rates of nationwide routine screening programmes do exist but are scarce.

      What does this study add?

      • This is one of the very few reports on an entire nationwide screening programme that presents data on positive predictive value and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test and referral for ultrasound findings. This study provides evidence that screening for advanced maternal age should be abandoned.
    9. Systematic review of the clinical prediction rules for the calculation of the risk of Down syndrome based on ultrasound findings in the second trimester of pregnancy (pages 265–272)

      María Moreno-Cid, José María Tenías Burillo, Ana Rubio-Lorente, María José Rodríguez, Gema Bueno-Pacheco, Carmen Román-Ortiz and Ángel Arias

      Article first published online: 30 JAN 2014 | DOI: 10.1002/pd.4304

      What's already known about this topic?

      • Clinical prediction rules for sonographic detection of Down syndrome in the second trimester of pregnancy are published.

      What does this study add?

      • A comprehensive and systematic review of clinical prediction rules and a computer aid to help clinicians apply these clinical prediction rules in their daily practice.
    10. Fetal cardiac disease and fetal lung volume: an in utero MRI investigation (pages 273–278)

      Elisabeth Mlczoch, Lisa Schmidt, Maximilian Schmid, Gregor Kasprian, Sophie Frantal, Vanessa Berger-Kulemann, Daniela Prayer, Ina Michel-Behnke and Ulrike Salzer-Muhar

      Article first published online: 20 JAN 2014 | DOI: 10.1002/pd.4308

      What's already known about this topic?

      • Magnetic resonance imaging is a powerful, noninvasive tool to study fetal lung volumes after 18 weeks of gestation in vivo.
      • Fetuses with a congenital heart defect are at risk for pulmonary problems after birth.

      What does this study add?

      • Fetuses with different types of CHD show similar lung volumes.
      • Antenatal detection of abnormal pulmonary development may help to optimize prenatal and perinatal management of at-risk fetus.
    11. Coronal approach for measuring both fetal lateral ventricles: is there an advantage over the axial view? (pages 279–284)

      Eldad Katorza, Nir Duvdevani, Jeffrey-Michael Jacobson, Yinon Gilboa, Chen Hoffmann and Reuven Achiron

      Article first published online: 23 JAN 2014 | DOI: 10.1002/pd.4310

      What's already known about this topic?

      • Measurement of both proximal and distal ventricles is very important in the diagnosis of ventriculomegaly and ventricular asymmetry. So far, only the distal ventricle is measured routinely using an axial plane.

      What does this study add?

      • Coronal measurement of both ventricles is feasible and has the advantage over measurement in the axial view in which only the distal ventricle is clearly visible and measurable.
    12. Correlation between prenatal ultrasound and fetal autopsy findings on urinary system anomalies terminated in the second trimester (pages 285–290)

      Hulya Akgun, Mustafa Basbug, Mahmut Tuncay Ozgun, Figen Ozturk and Turhan Okten

      Article first published online: 30 JAN 2014 | DOI: 10.1002/pd.4319

      What's already known about this topic?

      • After termination of pregnancy for congenital anomalies, perinatal autopsy is important for patients and perinatologists.

      What does this study add?

      • This study confirms that prenatal ultrasound achieved a high accuracy in diagnosing fetal urinary malformations.
      • However, fetal autopsy may add valuable information that may improve future pregnancy management and counseling of parents.
  3. Research Letters

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letters
    5. Correspondence
    1. First trimester detection of trisomy 16 using combined biochemical and ultrasound screening (pages 291–295)

      Kevin Spencer, Mark D. Pertile, Leonard Bonacquisto, Ian Mills, Steve Turner, Kim Donalson and Jón Jóhannes Jónsson

      Article first published online: 19 DEC 2013 | DOI: 10.1002/pd.4285

      What's already known about this topic?

      • Four previously reported cases of trisomy 16 have shown reduced levels of pregnancy-associated plasma protein-A during first trimester screening for trisomy 21.
      • Isolated increases in free β human chorionic gonadotrophin and nuchal translucency were observed in these four cases.

      What does this study add?

      • During first trimester screening for aneuploidy, we observed a further 28 cases of trisomy 16, all of which had reduced levels of pregnancy-associated plasma protein-A consistent with previous reported cases.
      • Increased free β human chorionic gonadotrophin and increased nuchal translucency were not a consistent finding in our 28 cases.
    2. Recurrent structural malformations identified among Mowat–Wilson syndrome fetuses (pages 296–298)

      Yan Zhou, Jin Huang, Yvonne Kwun Yue Cheng, Tak Yeung Leung, Ritsuko K. Pooh, Fai Man Lo and Kwong Wai Choy

      Article first published online: 23 DEC 2013 | DOI: 10.1002/pd.4292

      What's already known about this topic?

      • Mowat–Wilson syndrome (MWS) (OMIM#235730) is a genetic disease caused by mutations or deletions of the ZEB2 gene and characterized by typical facial dysmorphism. It is rarely diagnosed prenatally.

      What does this study add?

      • We report and review the ultrasound features of MWS fetuses identified by array comparative genomic hybridization study.
      • The MWS should be considered in fetuses with increased nuchal translucency, ACC, hypospadias, and congenital heart defect.
      • The prevalence of MWS in Hong Kong is reported.
    3. Elevated delta OD 450 due to transient abnormal myelopoiesis in a Down syndrome fetus with hepatosplenomegaly on ultrasound (pages 299–301)

      Abigail Mancuso and Asha Rijhsinghani

      Article first published online: 13 JAN 2014 | DOI: 10.1002/pd.4299

      What's already known about this topic?

      • Transient abnormal myelopoiesis (TAM) is a relatively common finding in children with Down syndrome.
      • A few cases have reported TAM associated with hepatosplenomegaly found in utero on ultrasound.

      What does this study add?

      • We discuss a case of an elevated Δ OD 450 and hepatosplenomegaly in a fetus with Down syndrome.
      • We discuss how an elevated Δ OD 450 with a normal middle cerebral artery velocity and normal viral studies may add in diagnosing TAM in utero.
  4. Correspondence

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letters
    5. Correspondence
    1. Comment on “Secondary bladder herniation in isolated gastroschisis justifies increased surveillance” (pages 302–303)

      César Meller, María Gabriela Barrio, Horacio Aiello and Lucas Otaño

      Article first published online: 3 MAR 2014 | DOI: 10.1002/pd.4291

    2. Comment on “Doppler evaluation of the posterior cerebral artery in normally grown and growth restricted fetuses” (page 304)

      José Morales-Roselló, Asma Khalil, David Hervás-Marín and Alfredo Perales-Marín

      Article first published online: 3 MAR 2014 | DOI: 10.1002/pd.4290

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