The 11–13‐week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis

Kagan, K. O.; Staboulidou, I.; Syngelaki, Argyro; Cruz, J Jiménez; Nicolaides, Kypros H.

doi:10.1002/uog.7646

Cited by 99 publications

(121 citation statements)

References 38 publications

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“…Moreover, the use of this checklist helps the study of the fetal anatomy, making it more systematic and without the need of longer time than that required for the combined test. The study also agrees in confirming the distinction, already made by Syngelaki et al (6), of the anomalies of the first trimester into two groups: 1. anomalies that should always be highlighted; 2. anomalies that could potentially be highlighted. In the first group there are acrania, alobar holoprosencephaly, abdominal wall defects, megacystis, limb body stalk anomaly.…”

Section: Discussionsupporting

confidence: 91%

First trimester fetal anatomy study and identification of major anomalies using 10 standardized scans

Colosi

Musone

Filardi

et al. 2015

JPM

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Objective: to validate the use of the first trimester scan not just as a screening tool for chromosomal anomalies, but also as a method to identify the major anatomic anomalies using 10 standardized scans. Methods: five years of prospective study analyzing the fetal anatomy of 5924 patients with a singleton pregnancy during the first trimester screening for chromosomopathies. A check list of 10 predetermined scans had been used. The follow up consisted of two more scans in the second and third trimester, according to the local protocol, and a final evaluation of neonatal outcome at birth. Results: in the 5924 examined patients, the percentage of major malformations is 0.74%, most of all discovered in the first trimester (47.7%). The Detection Rate for the malformations related to the nervous system is about 50% and for the malformations of the abdomen, heart and skeleton is slightly lower (43.5%). Conclusions: first trimester ultrasound using 10 standardized scans is a valid screening method for chromosomopathies and also an effective method to identify many of the major fetal anatomical anomalies.

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Section: Discussionsupporting

confidence: 91%

First trimester fetal anatomy study and identification of major anomalies using 10 standardized scans

Colosi

Musone

Filardi

et al. 2015

JPM

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“…However, in one se- ries, this defect was reported in 27% of 181 fetuses with trisomy 13 at 11-13 weeks of gestation [5].…”

Section: Holoprosencephalymentioning

confidence: 95%

“…Only in lobar holoprosencephaly is normal cortical division with the presence of two thalami, albeit accompanied by abnormalities of the corpus callosum, septum pelucidum, and/ or the olfactory tract [4]. The facial anomalies accompanying holoprosencephaly include a proboscis (cylindrical protuberance), ethmocephaly (the eyes are separated but closely placed), cyclopia (most severe form of hypotelorism), and a palatine defect [4,5] (fig 5).…”

Section: Holoprosencephalymentioning

confidence: 99%

Assessment of fetal malformations in the first trimester of pregnancy by three-dimensional ultrasonography in the rendering mode. Pictorial essay.

Júnior

Rôlo

Tonni³

et al. 2015

Med Ultrason

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We present our experience in the contribution of three-dimensional ultrasonography, using the rendering mode, to the prenatal diagnosis of congenital anomalies including neurological defects (acrania/anencephaly, encephalocele, holoprosencephaly), facial anomalies (cyclopia and facial clefts), abdominal wall defects (omphalocele and gastroschisis) and defects of extremities (fetal muscle-skeletal dysplasias). Three-dimensional ultrasonography may contribute to improve the prenatal diagnosis with further revision of the fetal images, allowing a better prenatal counsel to the parents.Keywords: prenatal diagnosis, congenital anomaly, three-dimensional ultrasound Assessment of fetal malformations in the first trimester of pregnancy by three-dimensional ultrasonography in the rendering mode. Pictorial essay.

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“…Aneuploidies, mainly trisomies 18 and 13, are observed in about 65% of fetuses with holoprosencephaly, 55% with exomphalos and 30% with megacystis (Kagan et al, 2010b). At 11 to 13 weeks absence of the nasal bone, abnormal flow in the ductus venosus and tricuspid regurgitation are observed in about 50, 55 and 30%, respectively, of fetuses with trisomies 18 and 13 (Kagan et al, 2009b(Kagan et al, , 2009cMaiz et al, 2009).…”

Section: Screening For Aneuploidies Other Than Trisomy 21mentioning

confidence: 99%

Aneuploidy and Anomaly Screening

Elkady¹,

Dawlatly²,

Ahmed³

et al. 2017

Mastering Single Best Answer Questions for the Part 2 MRCOG Examination

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Effective screening for major aneuploidies can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free-β-human chorionic gonadotrophin and pregnancy-associated plasma protein-A can identify about 90% of fetuses with trisomy 21 and other major aneuploidies for a false-positive rate of 5%. Improvement in the performance of first-trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks.

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The 11–13‐week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis

Abstract: Objective To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 weeks of gestation. Methods

Cited by 99 publications

References 38 publications

First trimester fetal anatomy study and identification of major anomalies using 10 standardized scans

First trimester fetal anatomy study and identification of major anomalies using 10 standardized scans

Assessment of fetal malformations in the first trimester of pregnancy by three-dimensional ultrasonography in the rendering mode. Pictorial essay.

Aneuploidy and Anomaly Screening

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