Prenatal Diagnosis

Cover image for Vol. 33 Issue 13

December 2013

Volume 33, Issue 13

Pages 1221–1321

  1. Review

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letters
    5. Correspondence
    1. Neonatal hemochromatosis: management, outcome, and prevention (pages 1221–1225)

      Enrico Lopriore, M. Luisa Mearin, Dick Oepkes, Roland Devlieger and Peter F. Whitington

      Version of Record online: 4 OCT 2013 | DOI: 10.1002/pd.4232

      What's already known about this topic?

      • Neonatal hemochromatosis is a rare disorder but the most common cause of acute liver failure in neonates.
      • Neonatal hemochromatosis is characterized by severe hepatic injury and iron overload and is associated with high perinatal mortality and morbidity rates.

      What does this study add?

      • Neonatal hemochromatosis is now regarded as an alloimmune disease.
      • Antenatal treatment with intravenous immunoglobulins prevents the development of neonatal hemochromatosis in subsequent pregnancies.
      • Postnatal treatment with exchange transfusions and intravenous immunoglobulins substitution improves neonatal outcome.
  2. Original Articles

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letters
    5. Correspondence
    1. Counseling for prenatal diagnosis and termination of pregnancy due to thalassemia major: a survey of health care workers' practices in Malaysia (pages 1226–1232)

      C. F. Ngim, N. M. Lai and H. Ibrahim

      Version of Record online: 24 SEP 2013 | DOI: 10.1002/pd.4233

      What's already known about this topic?

      • Prenatal diagnosis has an important role in the prevention of thalassemia, and the conduct of genetic counseling influence the acceptance rate of prenatal diagnosis.
      • Genetic counseling for thalassemia is often conducted by nongeneticist health care workers (HCWs) in many countries.

      What does this study add?

      • A significant proportion of HCWs in Malaysia would refrain from discussing the option of termination of pregnancy as they perceived the disease to be not severe, they faced religious restrictions or they incorrectly assumed that it is not legally permissible.
      • Genetic counseling for thalassemia carriers by nongeneticists HCWs should be regularly evaluated and areas of deficiencies addressed to strengthen preventive strategies.
    2. First trimester screening for holoprosencephaly with choroid plexus morphology (‘butterfly’ sign) and biparietal diameter (pages 1233–1237)

      Waldo Sepulveda and Amy E. Wong

      Version of Record online: 4 OCT 2013 | DOI: 10.1002/pd.4235

      What's already known about this topic?

      • Holoprosencephaly is a serious brain abnormality that is amenable to prenatal diagnosis in the first trimester.
      • Examination of a cross section of the fetal brain to visualize the butterfly-shaped choroid plexuses seems to be a useful technique for the screening of holoprosencephaly in the first trimester.

      What does this study add?

      • This single-center first trimester ultrasound screening study demonstrates that an absent ‘butterfly’ sign is an effective marker for holoprosencephaly.
      • Biparietal diameter measurement has a lower sensitivity than the ‘butterfly’ sign, although it may be of value in fetuses with associated microcephaly in which examination of the brain could be difficult.
    3. Hemoglobin levels and red blood cell indices in mid-gestational fetuses with beta-thalassemia/HbE, beta-thalassemia trait or Hb E trait and normal fetuses (pages 1238–1241)

      Kasemsri Srisupundit, Chanane Wanapirak, Supatra Sirichotiyakul, Fuanglada Tongprasert, Suchaya Leuwan, Kuntharee Traisrisilp and Theera Tongsong

      Version of Record online: 4 OCT 2013 | DOI: 10.1002/pd.4237

      What's already known about this topic?

      • There is a nomogram of fetal hematology in mid-pregnancy.

      What does this study add?

      • We provide novel information about fetal hematologic parameters (Hb level and red blood cell indices), in mid-gestational fetuses with beta-thalassemia/Hb E disease and fetuses with beta-thalassemia or Hb E trait.
    4. No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles (pages 1242–1247)

      Sangeetha Mahadevan, Shu Wen, Alfred Balasa, Gary Fruhman, Julio Mateus, Andrew Wagner, Tarek Al-Hussaini and Ignatia B. Van den Veyver

      Version of Record online: 4 OCT 2013 | DOI: 10.1002/pd.4239

      What's already known about this topic?

      • Mutations in NLRP7 and KHDC3L are causative of biparental hydatidiform moles (BiHM).
      • This suggests that NLRP7 and KHDC3L may play critical roles in imprint acquisition and maintenance of DNA methylation.

      What does this study add?

      • Some current literature suggests a role for NLRP7 and KHDC3L in the etiology of androgenetic hydatidiform moles (HM) and other adverse reproductive outcomes.
      • We challenged these observations and in the present study demonstrated a lack of evidence for mutations in NLRP7 and KHDC3L in androgenetic HM and only showed association of mutations in these genes with BiHM.
    5. Fetal kidneys: additional sonographic criteria of normal development (pages 1248–1252)

      Arnaud Devriendt, Marie Cassart, Anne Massez, Catherine Donner and Fred E. Avni

      Version of Record online: 7 OCT 2013 | DOI: 10.1002/pd.4240

      What's already known about this topic?

      • Currently, the sonographic criteria of normal development of the fetal kidneys are their presence and their localization, renal measurement, and bipolar growth during pregnancy as well as the measurement of the anteroposterior diameter of the pelvis on a transverse scan.
      • Other parameters cited in the literature, such as renal cortical echogenicity throughout gestation, corticomedullary differentiation, and the timing of its visualization, have not been validated yet.

      What does this study add?

      • This study shows that cortical echogenicity decreases with advancing gestational age, and after 32 weeks, it is not greater than that of the liver or spleen.
      • Corticomedullary differentiation is always be observed after 20 weeks gestation.
      • Cortical and medullary thicknesses increase with gestational age, but corticomedullary ratio decreases with time.
    6. Longitudinal assessment of amniotic fluid volume in monoamniotic twin gestations (pages 1253–1255)

      Stephen P. Emery, Timothy P. Canavan, Omar M. Young and Lyndon M. Hill

      Version of Record online: 14 OCT 2013 | DOI: 10.1002/pd.4241

      What's already known about this topic?

      • Normal amniotic fluid volume in monoamniotic twin gestations is not described.

      What does this study add?

      • We provide gestational age-specific reference ranges for monoamniotic twin gestations.
      • Because a myriad of fetal and maternal complications such as twin-twin transfusion syndrome, congenital anomalies, and preeclampsia can affect amniotic fluid volume, knowledge of normal fluid volume throughout gestation in monoamniotic twins would be beneficial for those who manage these pregnancies.
    7. Sonographic assessment of fetal secondary palate between 12 and 16 weeks of gestation using three-dimensional ultrasound (pages 1256–1259)

      Michal Zajicek, Reuven Achiron, Boaz Weisz, Alon Shrim and Liat Gindes

      Version of Record online: 10 OCT 2013 | DOI: 10.1002/pd.4242

      What's already known about this topic?

      • It is already known that fetal soft palate can be demonstrated by three-dimensional ultrasound in the second trimester.

      What does this study add?

      • This study investigates fetal soft palate in the first trimester.
      • It shows that in first-trimester soft palate can be demonstrated in 34% of fetuses.
    8. First trimester maternal serum placental growth factor levels in twin pregnancies (pages 1260–1263)

      Nicholas J. Cowans and Kevin Spencer

      Version of Record online: 22 OCT 2013 | DOI: 10.1002/pd.4243

      What's already known about this topic?

      • Placental growth factor (PlGF) is a promising first trimester screening marker for chromosomal anomalies and preeclampsia.

      What does this study add?

      • First trimester PlGF levels were found to be 41% higher in dichorionic and 13% higher in monochorionic twin pregnancies compared to singleton pregnancies.
      • Algorithms used in screening programs that include PlGF will need to take twin pregnancy and chorionicity into consideration.
    9. Intra-operator and inter-operator reliability of manual and semiautomated measurement of fetal nuchal translucency: a cross sectional study (pages 1264–1271)

      M. Bakker, P. Mulder, E. Birnie and C. M. Bilardo

      Version of Record online: 23 OCT 2013 | DOI: 10.1002/pd.4245

      What's already known about this topic?

      • To minimize variability in the measurement of the NT, a semiautomated NT measurement has been developed.

      What does this study add?

      • In view of our study results we conclude that the semiautomated measurement seems not to be useful in well-trained operators. Changes in risk status between measurement methods are present, resulting in different clinical policies in up to 1 out of 20 cases, which we clinically cannot neglect.
    10. Comparison of maternal serum PlGF and sFlt-1 between pregnancies with and without fetal hemoglobin Bart's disease (pages 1272–1275)

      Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan and Theera Tongsong

      Version of Record online: 22 OCT 2013 | DOI: 10.1002/pd.4246

      What's already known about this topic?

      • In preeclampsia, maternal serum sFlt-1 is increased, but PlGF is decreased.
      • A higher sFlt-1/PlGF ratio is a reliable tool in the assessment of preeclampsia.
      • Hb Bart's anemic fetuses complicate more often with preeclampsia in late gestation.

      What does this study add?

      • PlGF is higher while sFlt-1/PlGF ratio is lower in pregnancies with fetal Hb Bart's disease.
      • Preeclampsia prediction using PlGF and sFlt-1 may be unreliable in pregnancies with fetal anemia.
    11. Psychosocial factors affecting uptake of prenatal genetic testing: a pilot study (pages 1276–1282)

      Monica Pivetti, Giannino Melotti, Davide Morselli and Mariangela Olivieri

      Version of Record online: 22 OCT 2013 | DOI: 10.1002/pd.4248

      What's already known about this topic?

      • Despite the increasing use of prenatal genetic testing, few studies have been conducted to build an empirical model to predict the actual uptake of PGT in pregnant women.

      What does this study add?

      • Within the TPB framework, this study has built an empirical model to predict the actual uptake of PGT in pregnant women. Specifically, positive attitude toward PGT, perceiving PGT as reliable and the request for more scientific information predict test uptaking.
    12. Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia (pages 1283–1292)

      P. D. Brady, P. DeKoninck, J. P. Fryns, K. Devriendt, J. A. Deprest and J. R. Vermeesch

      Version of Record online: 14 NOV 2013 | DOI: 10.1002/pd.4244

      What's already known about this topic?

      • Genetic factors play an important role in non-isolated or syndromic congenital diaphragmatic hernia (CDH).
      • The genetic causes of isolated CDH remain largely unknown.

      What does this study add?

      • Pathogenic submicroscopic copy number variations were identified in 9% of fetuses referred with apparently isolated CDH.
      • The 15q26 CDH locus is refined, highlighting haploinsufficiency of NR2F2 as a cause of CDH and cardiovascular malformations.
      • Evidence is provided for an association of 15q25.2 and 16p11.2 recurrent microdeletions with isolated CDH.
      • Several novel dosage-sensitive CDH candidate genes are proposed.
  3. Research Letters

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letters
    5. Correspondence
    1. Placenta membranacea with placenta accreta: radiologic diagnosis and clinical implications (pages 1293–1296)

      Nigel Pereira, Ruofan Yao, Daniel S. Guilfoil, Scott D. Richard and Lauren A. Plante

      Version of Record online: 9 SEP 2013 | DOI: 10.1002/pd.4224

      What's already known about this topic?

      • Placenta membranacea is a rare developmental abnormality of the human placenta associated with abnormal placental adherence.
      • This placental abnormality is usually diagnosed after post-delivery pathologic examination of the placenta.

      What does this study add?

      • We highlight the utility of magnetic resonance imaging as an adjunct to ultrasonography in the antenatal diagnosis of placenta membranacea.
      • Magnetic resonance imaging can optimize the diagnosis of abnormal placental adherence in the presence of placenta membranacea, thereby influencing antenatal management, as well as the timing and route of delivery.
    2. Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy? (pages 1297–1298)

      Ozgur Aldemir, Samim Ozen, Cigdem Sanlialp and Serdar Ceylaner

      Version of Record online: 12 SEP 2013 | DOI: 10.1002/pd.4226

      What's already known about this topic?

      • Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair, and pale skin.

      What does this study add?

      • This is the first case reported in the literature, diagnosed with intrauterine POMC deficiency decrease in level of maternal shown in E3.
    3. Impact of prenatal diagnosis of ductal origin of the left pulmonary artery (pages 1299–1301)

      Christine van Velzen, Bauke Adriaanse, Lukas Rammeloo, Nico Blom and Jaroslav Hruda

      Version of Record online: 4 OCT 2013 | DOI: 10.1002/pd.4236

      What's already known about this topic?

      • Distal ductal origin of a pulmonary artery is typically diagnosed during infancy, after closure of the arterial duct. This condition is associated with significant morbidity and mortality.

      What does this study add?

      • Our case is the first to show that distal ductal origin of a pulmonary artery can be detected before birth.
      • Prenatal detection enables preservation of the patency of the pulmonary artery for an efficient surgical reconstruction at later age.
    4. Stomach herniation predicts fetal death or non-reassuring fetal status in gastroschisis at late pregnancy (pages 1302–1304)

      Eriko Kanda, Kohei Ogawa, Rika Sugibayashi, Masahiro Sumie, Hideo Matsui, Seiji Wada and Haruhiko Sago

      Version of Record online: 22 OCT 2013 | DOI: 10.1002/pd.4247

      What's already known about this topic?

      • Sudden fetal death and a non-reassuring fetal status are more frequent in fetal gastroschisis. Many studies were undertaken to determine what findings may predict postnatal outcome, but few assessed the findings related to the fetal risk.

      What does this study add?

      • Fetal gastroschisis with stomach herniation is associated with a high risk of fetal death or non-reassuring fetal status.
    5. Prenatal diagnosis of exophytic nevus sebaceous of the scalp (pages 1305–1307)

      Ferdinand Dhombres, Kamila Kolanska, Catherine Garel, Jean-Pierre Aubry, Marie Gonzales and Jean-Marie Jouannic

      Version of Record online: 22 OCT 2013 | DOI: 10.1002/pd.4252

      What's already known about this topic?

      • Nevus sebaceous (NS) is a complex hamartoma most commonly found on the scalp, face, and neck.
      • The NS appears as a flat tumor, which may account for these lesions being overlooked by prenatal ultrasound.

      What does this study add?

      • This study shows that prenatal diagnosis of NS is feasible by ultrasound as early as 19 weeks' gestation.
      • Using high-frequency probes can reveal diffuse lesions of the face.
  4. Correspondence

    1. Top of page
    2. Review
    3. Original Articles
    4. Research Letters
    5. Correspondence
    1. Comment on “Technical concerns on the clinical validation of the NIFTY test” (pages 1308–1309)

      Philippos C. Patsalis, Georgia Christopoulou and Voula Velissariou

      Version of Record online: 10 DEC 2013 | DOI: 10.1002/pd.4146

    2. Comment on “Is fetal magnetic resonance imaging indicated when ultrasound isolated mild ventriculomegaly is present in pregnancies with no risk factors?” (page 1316)

      Claudio Celentano, Barbara Matarrelli, Marco Liberati, Sergio Domizio, Maurizio Pellegrini and Armando Tartaro

      Version of Record online: 10 DEC 2013 | DOI: 10.1002/pd.4064

    3. Comment on “Prenatal diagnosis and prognosis in Noonan syndrome” (pages 1318–1320)

      Giuseppina Baldassarre, Alessandro Mussa, Margherita Silengo and Giovanni Battista Ferrero

      Version of Record online: 10 DEC 2013 | DOI: 10.1002/pd.4234

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