Literature DB >> 26674767

Ultrasound and echocardiographic findings obtained in the second and third trimesters of gestation in fetuses with normal karyotype and increased nuchal translucency.

Wojciech Mądry1, Aldona Piotrowska-Wichłacz1, Maciej A Karolczak1.   

Abstract

Entities:  

Year:  2013        PMID: 26674767      PMCID: PMC4579666          DOI: 10.15557/JoU.2013.0051

Source DB:  PubMed          Journal:  J Ultrason        ISSN: 2084-8404


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Non-invasive ultrasound examinations play a vital role in pregnancy care. Thanks to ultrasound scanning, the detectability of developmental defects keeps improving but the assessment of the cardiovascular system still poses a challenge for obstetricians. The article by Moczulska et al. concerns one of the most urgent issues in prenatal care, i.e. searching for methods of early, reliable and non-invasive detection of fetal anomalies that are safe for the fetus(. Together with the development of prenatal cardiac diagnostics, the fetus in its early stage of development is more and more often becoming a subject of investigations(. It must be noted that an initial assessment during screening examination performed in the 20th week of pregnancy gives a 40% chance to diagnose a defect based on a four-chamber view. A five-chamber view and assessment of the mediastinum, on the other hand, increase this efficacy to 70%. Ultrasound examination performed between 11th and 13th or 14th weeks of pregnancy (crown-rump length, CRL = 45–84 mm) is said to be particularly significant. It aims at the initial assessment of the fetal anatomy as well as the evaluation of chromosome aberration markers and systemic defects with particular attention paid to nuchal translucency (NT)(. It is assumed that the normal NT value (≤2.5 mm) specified for a given population encompasses the values up to the 95th percentile and is dependent on CRL. NT is directly proportional to the risk of trisomy in the fetus: NT = 3 is associated with 3 times greater risk, NT = 4 mm – with 18 times greater risk, NT = 5 mm – with 28 times greater risk and NT > 5 mm – with 36 times greater risk. Increased NT values are usually encountered in fetuses with chromosome anomaly syndromes including the anomalies predisposing the fetus to develop cardiac defects (numerical chromosomal aberrations, structural aberrations – microdeletions, e.g. in the chromosome 22q11, and monogenic diseases, e.g. Marfan, Smith-Lemli-Opitz, Holt-Oram, Noonan, Costello, CFC syndromes)(. Until today, few studies have been published concerning the incidence of congenital cardiac defects in fetuses without chromosome anomalies. Thus, the value of the article in question is great. A precise measurement of NT, which is necessary for obtaining prognostic information, requires strict adherence to the principles of the examination: while the measurement is being taken, the fetus should remain immobile in a position without bending the head. Appropriate magnification to guarantee adequate image resolution and proper cursor settings are also needed. Fulfilling these conditions requires patience and renders the examination more time-consuming. However, failure to observe these principles leads to significant errors which may generate huge psychological burden for the parents. The commented academic report comes from a pioneer center with the greatest experience in Poland as far as fetal ultrasound diagnostics is concerned. This guarantees the essential quality of conducting and interpreting examinations. A group that fulfilled the enrolment criteria was selected from 5183 examinations, which constitutes a number that allows for statistical analysis. The discussed article says that 54% of fetuses with increased nuchal translucency and normal genetic findings manifest various congenital defects and anomalies, the majority of which concern the circulatory system. Assuming that chromosome anomalies occur in 9–10% of fetuses with increased nuchal translucency, there is a 60% cumulative risk of the development of a serious congenital defect in fetuses that manifest this sign. Such high values raise a question about the selection process – how was the subject group created? Does it reflect real risk of defects in fetuses with increased NT and normal karyotype? What was the rate of consents to amniocenteses? Was the detection of increased nuchal translucency the only reason for amniocentesis, or were the patients, who decided to have this examination conducted, presented with additional information that might have affected their decision? We are asking these questions since at present, when the Internet is so common and people have access to information, the “social” significance of simple prognostic parameters is enormous. To conclude, we respectfully ascertain that the indication of a prognostic value of increased NT in a group of patients without chromosome abnormalities by our Colleagues from an outstanding Clinic in Łódź, constitutes a proof of the paramount importance of this paper.
  4 in total

Review 1.  [Increased nuchal translucency with normal karyotype].

Authors:  Kypros H Nicolaides; Piotr Wegrzyn
Journal:  Ginekol Pol       Date:  2005-08       Impact factor: 1.232

Review 2.  Transcription factors and congenital heart defects.

Authors:  Krista L Clark; Katherine E Yutzey; D Woodrow Benson
Journal:  Annu Rev Physiol       Date:  2006       Impact factor: 19.318

3.  Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness.

Authors:  N Maiz; W Plasencia; T Dagklis; E Faros; K Nicolaides
Journal:  Ultrasound Obstet Gynecol       Date:  2008-03       Impact factor: 7.299

4.  Ultrasound and echocardiographic findings obtained in the second and third trimesters of gestation in fetuses with normal karyotype and increased nuchal translucency.

Authors:  Hanna Moczulska; Katarzyna Janiak; Maciej Słodki; Maria Respondek-Liberska
Journal:  J Ultrason       Date:  2013-03-30
  4 in total

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