Prenatal Diagnosis

Cover image for Vol. 33 Issue 8

August 2013

Volume 33, Issue 8

Pages 711–811

  1. Original Articles

    1. Top of page
    2. Original Articles
    3. Research Letters
    4. Correspondence
    1. The fetal frontomaxillary facial angle in normal and trisomy 21 ultrasounds at 11–13+6 weeks of gestation: findings among the ethnic Chinese compared with Caucasian (pages 711–715)

      Ching Hua Hsiao, Wen Liang Liu, Ran Chou Chen, Bo Jen Cheng, Yin Jiun Tseng and Woei Chyn Chu

      Version of Record online: 1 MAY 2013 | DOI: 10.1002/pd.4084

      What's already known about this topic?

      • The fetal frontomaxillary facial (FMF) angle has been used to improve detection of Down syndrome in the first trimester screening. The normal fetal FMF angle is dependent on the ethnic background. A previous retrospective study has shown that the fetal FMF angle remains constant across the crown-rump lengths at 11–13+6 weeks gestation and that there is no significant difference in FMF angles between Chinese and Caucasian populations.

      What does this study add?

      • The results of this prospective study show that the fetal FMF angle decreases with the crown-rump length at 11–13+6 weeks gestation. The mean fetal FMF angle is significantly different between euploid and trisomy 21 fetuses in a Chinese population.
    2. Attitudes among Danes toward termination of pregnancy for social reasons and fetal abnormality (pages 716–721)

      Sigurd Wiingaard Uldall

      Version of Record online: 10 APR 2013 | DOI: 10.1002/pd.4104

      What's already known about this topic?

      • Like other nationalities, Danes have been found to graduate their attitude toward selective termination of pregnancy depending on gestational age and the severity of the fetal condition.

      What does this study add?

      • Internationally compared Danes are less supportive of selective terminations. Their attitudes continue to be dominated by a gradualistic view on terminations.
    3. Impact of chorionicity on first-trimester nuchal translucency screening in ART twin pregnancies (pages 722–725)

      A. Flöck, J. Reinsberg, C. Berg, U. Gembruch and A. Geipel

      Version of Record online: 29 APR 2013 | DOI: 10.1002/pd.4107

      What's already known about this topic?

      • Measurement of nuchal translucency (NT) is an effective and validated method to detect chromosomal abnormalities in singletons and twins. Most studies reported comparable screening results in assisted reproduction treatment (ART) singletons compared with spontaneous conceptions. However, ART twins are less extensively investigated, especially with respect to chorionicity.

      What does this study add?

      • This study is the first analysis about the impact of chorionicity on NT screening in ART and spontaneous twins in a large cohort.
    4. Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening (pages 726–731)

      Ammar Al Naimi, Jan-Eric Baumüller, Stephan Spahn and Franz Bahlmann

      Version of Record online: 3 JUN 2013 | DOI: 10.1002/pd.4112

      What's already known about this topic?

      • The incidence of MCDK is around 1 : 4300 live births with a male predominance. It could be bilateral or unilateral, mostly left sided, isolated, or associated with other abnormalities and could be a part of a syndrome. Published literature is scarce regarding prenatal MCDK.

      What does this study add?

      • We present 54 (21 bilateral and 33 unilateral) cases between the years 1998 and 2012 and discuss different characteristics, associated anomalies, invasive diagnosis, maternal medication, prognosis, and so on.
    5. First trimester prediction of early onset preeclampsia using demographic, clinical, and sonographic data: a cohort study (pages 732–736)

      Javier Caradeux, Ramón Serra, Jyh-Kae Nien, Alejandra Pérez-Sepulveda, Manuel Schepeler, Francisco Guerra, Jorge Gutiérrez, Jaime Martínez, Cristián Cabrera, Horacio Figueroa-Diesel, Peter Soothill and Sebastián E. Illanes

      Version of Record online: 3 MAY 2013 | DOI: 10.1002/pd.4113

      What's already known about this?

      • Studies have shown that predictive models for PE at 22–24 weeks that combines demographic, clinical, and sonographic data achieve detection rates for early onset PE of about 100% (85–100 CI), with 10% false positive results. These kinds of models can also be applied in the first trimester of pregnancy.

      What does this study add?

      • A clinical, one step aproach, for the first trimester prediction of early onset PE.
    6. Cervical softening occurs early in pregnancy: characterization of cervical stiffness in 100 healthy women using the aspiration technique (pages 737–741)

      Sabrina Badir, Edoardo Mazza, Roland Zimmermann and Michael Bajka

      Version of Record online: 29 APR 2013 | DOI: 10.1002/pd.4116

      What's already known about this?

      • A firm cervix is important for maintenance of pregnancy, and for delivery the cervix becomes highly deformable.
      • Understanding the mechanisms of softening is relevant to predict preterm delivery, but cervical changes are difficult to detect and quantify.

      What does this study add?

      • For the first time, stiffness of the ectocervix is measured in pregnancy using the aspiration technique.
      • Tissue softens early, transforms continuously to lower consistency, and recovers its stiffness after delivery.
    7. Trisomies 18 and 13: trends in prevalence and prenatal diagnosis – population based study (pages 742–750)

      A. M. Tonks, A. S. Gornall, S. A. Larkins and J. O. Gardosi

      Version of Record online: 18 MAY 2013 | DOI: 10.1002/pd.4117

      What's already known about this topic?

      • Trisomies 18 and 13 (T18 and T13) are lethal chromosomal anomalies that are more commonly seen in older mothers.
      • The changing pattern of maternal age suggests that the prevalence of both anomalies should be increasing, but reliable long-term evidence is lacking.
      • In the UK, screening for T18 and T13 is undertaken routinely using second trimester ultrasound, whereas other European countries have elected to include T18 and T13 risk calculation within first trimester combined screening.

      What does this study add?

      • Trisomy 18 is increasing in prevalence.
      • Our study highlights the opportunistic nature of prenatal detection, which is increasing for both anomalies and taking place earlier in pregnancy.
      • These findings may influence the National Screening Committee, as part of its current consultation, to provide a first trimester screening test for T18 and T13.
    8. You have free access to this content
      A series of 238 cytomegalovirus primary infections during pregnancy: description and outcome (pages 751–758)

      O. Picone, C. Vauloup-Fellous, A. G. Cordier, S. Guitton, M. V. Senat, F. Fuchs, J. M. Ayoubi, L. Grangeot Keros and A. Benachi

      Version of Record online: 1 MAY 2013 | DOI: 10.1002/pd.4118

      What's already known about this topic?

      • Cytomegalovirus (CMV) congenital infection may lead to severe sequelae. The management of CMV congenital infection is debated.

      What does this study add?

      • Our results indicate that severe disease may affect fetuses whose mother was infected before the second trimester of pregnancy and very rarely when the mother was infected later. Our management based on amniocentesis and regular ultrasound examinations by experts well aware of CMV infection did not fail to diagnose symptomatic newborns.
    9. The volume of the chorion villosum is associated with the location of the umbilical cord in the first trimester (pages 759–763)

      Masamitsu Nakamura, Junichi Hasegawa, Shoko Hamada, Ryu Matsuoka, Kiyotake Ichizuka, Akihiko Sekizawa and Takashi Okai

      Version of Record online: 29 APR 2013 | DOI: 10.1002/pd.4120

      What's already known about this topic?

      • Placenta would tend to growth on the uterine wall with more blood supply according to trophotropism theory and higher PAPP-A with better growed placenta.

      What does this study add?

      • Placental growth was possible to be affected from cord insertion site in the uterus.
    10. Relationship between the umbilical cord coiling index and the umbilical blood flow at 11–13 weeks of gestation (pages 764–769)

      Junichi Hasegawa, Masamitsu Nakamura, Shoko Hamada, Ryu Matsuoka, Kiyotake Ichizuka, Akihiko Sekizawa and Takashi Okai

      Version of Record online: 27 MAY 2013 | DOI: 10.1002/pd.4122

      What's already known about this topic?

      • To supply blood efficiently through the umbilical cord, there is most likely an optimal degree of umbilical cord coiling that provides the maximum flow. However, normal the degree of coiling in the first trimester is currently unknown.

      What does this study add?

      • We have evaluated the correlations between umbilical cord coiling and blood flow in umbilical arteries and vein.
    11. Nuchal translucency measurement: are qualitative and quantitative quality control processes related? (pages 770–774)

      Monika Hermann, Nicolas Fries, Raphaëlle Mangione, Philippe Boukobza, Yves Ville and Laurent J. Salomon

      Version of Record online: 1 MAY 2013 | DOI: 10.1002/pd.4121

      What's already known about this topic?

      • Quality control of first-trimester ultrasound is critical.
      • Two types of quality assurance processes for nuchal translucency (NT) measurement have been described: qualitative through review of images and quantitative comparison of operator's specific NT distribution to reference distributions.

      What does this study add?

      • We demonstrate a clear association between an image scoring method and quantitative quality control results.
      • We are not aware of any such report of the association between qualitative and quantitative approaches in the literature.
    12. Fetal serum α-1 microglobulin for renal function assessment: comparison with β2-microglobulin and cystatin C (pages 775–781)

      Claire Nguyen, Sophie Dreux, Laurence Heidet, Isabelle Czerkiewicz, Laurent J. Salomon, Fabien Guimiot, Thomas Schmitz, Vassilis Tsatsaris, Pierre Boulot, Thierry Rousseau and Françoise Muller

      Version of Record online: 13 MAY 2013 | DOI: 10.1002/pd.4128

      What's already known about this topic?

      • Serum α 1-microglobulin is considered as a good marker of postnatal renal function in children. We compared its value with those of fetal serum β2-microglobulin and cystatin C, which have been previously evaluated for prenatal diagnosis of congenital abnormalities of the kidney and urinary tract.

      What does this study add?

      • Fetal serum α 1-microglobulin was much less reliable than fetal serum β2-microglobulin in prognostic assessment of renal function.
  2. Research Letters

    1. Top of page
    2. Original Articles
    3. Research Letters
    4. Correspondence
    1. Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis (pages 782–796)

      Anna Capalbo, Lorenzo Sinibaldi, Laura Bernardini, Iolanda Spasari, Brunella Mancuso, Eugenio Maggi and Antonio Novelli

      Version of Record online: 27 MAY 2013 | DOI: 10.1002/pd.4105

      What's already known about this topic?

      • Chromosomal deletion associated with a complementary ring is a very rare cytogenetic finding. Genetic counselling in prenatally ascertained cases without ultrasound defects is extremely complex because this rearrangement has been associated both to normal and abnormal phenotype.

      What does this study add?

      • This case elucidates the importance of the integrated approach by microarray-based and standard cytogenetics analysis to accurately characterize chromosome rearrangements. It prompted to review all the reported cases of proximal 4q deletion to refine the karyotype/phenotype correlation.
    2. Prenatal diagnosis of partial trisomy 16p and its association with congenital diaphragmatic hernia (pages 797–799)

      Molly Strong, Matthew Garabedian, Anjana Pettigrew, Natasha Barron and Wendy Hansen

      Version of Record online: 24 APR 2013 | DOI: 10.1002/pd.4108

      What's already known about this topic?

      • Little is known about partial trisomy 16p as relatively few cases have been reported.
      • An abnormal yolk sac and increased nuchal translucency are associated with aneuploidy and adverse pregnancy outcomes.

      What does this study add?

      • We propose that congenital diaphragmatic hernia may be part of the phenotype of partial trisomy 16p. This case adds to other recent observations of congenital diaphragmatic hernia with chromosome imbalances in 16p.
      • This report illustrates the natural progression of an abnormality, imaged by ultrasound during the first 17 weeks of pregnancy: abnormal yolk sac, increased nuchal translucency, and diaphragmatic hernia.
    3. Nasal bone length: the long and short of it. Evaluation of the reference values for the fetal nasal bone length at 16 to 25 weeks of gestational age in an Indian population (pages 800–803)

      Akshatha Sharma, Tulika Tayal, Narayani BH, Prathima Radhakrishnan and Anita Kaul

      Version of Record online: 20 JUN 2013 | DOI: 10.1002/pd.4114

      What is already known about this topic?

      • Absence of nasal bone and its hypoplasia has already proven to be an important marker for Down syndrome detection prenatally in the first trimester and the second trimester.
      • Nasal bone hypoplasia has been defined variously by different authors in different ethnic population.
      • The BPD/NBL ratio has been evaluated and is said to detect 81% of Down syndrome (FPR 11%).10

      What does this study add?

      • As far as we know, no study has evaluated the NBLs in the second trimester in an Indian population. The study includes a representative population – North and South Indian – thus covering a divergent population within India.
      • It also highlights the fact that the BPD/NBL ratio appears to be an ethnicity – independent marker.
      • It aims to minimise the false positives in the second trimester, which is still the primary gestational period for prenatal Down syndrome screening in India.
    4. The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening (pages 804–806)

      Marja Kaijomaa, Veli-Matti Ulander, Markku Ryynanen and Vedran Stefanovic

      Version of Record online: 29 APR 2013 | DOI: 10.1002/pd.4115

      What's already known about this topic?

      • Fetuses with soft markers have slightly increased risk of aneuploidy in high-risk pregnancies. The value of soft markers after normal first trimester screening in general obstetric population is still conflicting.

      What does this study add?

      • Soft markers have very limited or no value in screening for aneuploidy in singleton pregnancies after normal first trimester screening and without a priori high-risk for aneuploidy.
    5. Abnormal motor behavior at 23 weeks in a fetus with Smith–Lemli–Opitz syndrome (SLOS) (pages 807–809)

      Marleen A. Hagen, Kyra E. Stuurman and Johanna I. de Vries

      Version of Record online: 16 MAY 2013 | DOI: 10.1002/pd.4133

      What's already known about this topic?

      • Smith–Lemli–Opitz syndrome is an autosomal recessive disorder in which various organs can be affected and the phenotypic expression varies.
      • Evaluation of the quality of fetal movements can support the distinction of a specific syndrome in case of multiple affected organs.

      What does this study add?

      • With this case, we add early, in the second trimester of pregnancy, affected motor expression of the central nervous system.
  3. Correspondence

    1. Top of page
    2. Original Articles
    3. Research Letters
    4. Correspondence

SEARCH

SEARCH BY CITATION