Diagnosis of fetal syndromes by three- and four-dimensional ultrasound: is there any improvement?

Abstract

With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle that needs to be assembled and solved. Detection of one anomaly should always raise a suspicion of the existence of more anomalies, and can be a trigger to investigate further and raise awareness of possible syndromes. Highly specialized software systems for three-and four-dimensional ultrasound (3D/4D US) enabled detailed depiction of fetal anatomy and assessment of the dynamics of fetal structural and functional development in real time. With recent advances in 3D/4D US technology, antenatal diagnosis of fetal anomalies and syndromes shifted from the 2 nd to the 1 st trimester of pregnancy. It is questionable what can and should be done after the prenatal diagnosis of fetal syndrome. The 3D and 4D US techniques improved detection accuracy of fetal abnormalities and syndromes from early pregnancy onwards. It is not easy to make prenatal diagnosis of fetal syndromes, so tools which help like online integrated databases are needed to increase diagnostic precision. The aim of this paper is to present the possibilities of different US techniques in the detection of some fetal syndromes prenatally.

A system‐based approach to the genetic etiologies of non‐immune hydrops fetalis

“…9,12,44 NIHF has been described in association with Bartter syndrome, 66 in which renal cysts may be seen prenatally. Finally, enlarged, multicystic kidneys have been reported with NIHF in the setting of both Meckel Gruber syndrome 15,16 and infantile polycystic kidney disease. 67 Additional details are listed in Table 1…”

“…[142][143][144] Additional imaging modalities such as three-and four-dimensional ultrasound, as well as magnetic resonance imagining (MRI), have been investigated as potential ways to improve prenatal diagnosis of concurrent structural anomalies. 16,145,146 While the situations in which these modalities are most useful have not been defined, fetal MRI does appear promising in cases where intracranial anomalies are suspected and may provide additional information about cortical sulcation, gyration, leukomalacia, vascular defects, and other differences. 145,146 Prenatal phenotyping is key in the evaluation, meaning the identification of prenatal features unique to each case that allows providers to narrow the differential diagnosis and target further testing.…”

Fetal syndromes: Diagnosis and management using 3D-4D sonography

“…Over the time, 3D US equipment and technology dramatically enhanced the qality of images, shortened the time of acquisition, and at the same time improved our ability to assess and visualize the normal and to detect abnormal development of a embryo and fetus in utero. [1][2][3][4][5][6][7][8][9][10][11][12][13] Acquired volumes can be stored, re-loaded and re-evaluated at any time. Different imaging modalities can be applied for more detailed survey.…”

“…Particular region of interest such as small defects can be displayed in the ideal plane that sometimes cannot be achived by conventional 2D US technique. 3,4,9,10 This increases the accuracy of the detection and diagnosis of various malformations and fetal syndromes. 2 nancy 2,4,[10][11][12] partly due to technological advances and benefits of imaging quality with 3D/4D US technology, as reported by many authors.…”

Beginning of Human Life: Doubts and Controversies

“…The leading strategy was to disclose the concept of embryo/fetus as a patient. [60][61][62] Autonomous moral status for the fetus/embryo would mean that one or more traits they possess (the embryo/fetus itself), regardless and independent of the pregnant woman or any other aspect, result in, and therefore ground obligation to the embryo/fetus apart from the pregnant woman and her doctor.…”