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Acrania with cervical spina bifida (craniorachischisis) at 11 weeks of gestation. Left upper: 2D image. Note the amniotic fluid is more turbid than chorioamniotic cavity due to floating nerve tissue from destroyed brain. Left lower; three orthogonal view and reconstructed image. Right: 3D-reconstructed image of cerebrospinal region. This fetus is complicated with acrania and cervical spina bifida, so-called craniorachischisis
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The introduction of three-dimensional (3D)/four-dimensional (4D) sonography with high-frequency transvaginal transducer has resulted in remarkable progress in ultrasonographic visualization of early embryos and fetuses and development of new fields of 3D sonoembryology. With the proper use of this new diagnostic modality and with experienced examin...
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Background: The nutritional status of women during pregnancy can have a considerable effect on maternal and fetal health, and on perinatal outcome. The aim was to assess the changes occurring in dietary iodine intake, KI supplementation, and smoking habit, and the impact of these changes on the urinary iodine concentration (UIC) during pregnancy in...
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... Sonoembryology has a great potentiality in the detection of central nervous system maldevelopment. Ritsuko et al. [6] described the role of 3D sonography as this offers a better quality of imaging. Familiarity with these structures and their normal variants is essential for prenatal ultrasound studies. ...
To review embryonic skull shape and brain anatomy by sonography during late embryonic and early fetal periods. We examined embryos/fetuses of 8–11 weeks between March 2015 and February 2018, the period corresponds to CRL 16–44 mm and also corresponds to late embryonic and early fetal periods by transvaginal and transabdominal sonography. We assessed shape of the skull and intracranial brain vesicles. Additionally, embryonic brain anatomy was also assessed by three-dimensional ultrasound. We found 12 abnormal cases, 5 cases between CRL 16–30 mm and 7 cases between CRL 31–44 mm. We followed all cases between 11 and 13 weeks and confirmed acrania with loss of variable amount of brain tissues. Acrania–Exencephaly–Anencephaly sequence can be diagnosed before 11 weeks. Sonographer should be familiar and proper knowledge of brain embryology and anatomy is key to diagnose.
... There were recently a number of papers on new attractive techniques for visualization of early human development [54][55][56][57][58][59][60][61][62][63][64][65][66] ...
Preimplantation genetic testing of aneuploidies of oocytes and embryos in vitro prior to implantation refers to the biopsy of polar bodies, blastomeres or trophoblast cells. In cases not dealing with hereditary diseases, the indications are controversial, like to increase the chance of pregnancy and reduce the risk of miscarriage, multiples, malformation and pointless sterility treatments and when dealing with advanced maternal age, repeated implantation failure, repeated miscarriage and severe male factor. Ethics should be observed when designing studies in this field. Following the introduction of blastocyst biopsy and comprehensive chromosome screening, all RCTs have found some positive effect. The majority view suggests that it works, accompanied by an increasing global use. It should be done with strict indications, taking into account stochastics and the will of the patients.KeywordsPGT-APGSEvidence-based medicineEthicsComprehensive chromosome screeningIndications
... Existing data suggest that at least 50% of major anomalies can be detected in a first trimester scan. [20][21][22] Ultrasound assessment of fetal limbs and movement would allow the detection of arthrogryposis as early as in the first and second trimester in probably 80%-90% of patients. In more than 75% of fetuses, however, MCC remain undetected until birth. ...
Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, which may lead to or are associated with MCC and/or fetal hypo‐ and akinesia as a clinical sign. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with providing early detection in order to counsel the prospective parents regarding further prenatal diagnostic as well as management options. We summarize the most important knowledge to raise awareness for early detection in pregnancy. We review essential points for counseling when MCC is detected in order to provide answers to common questions, which, however, cannot replace interdisciplinary expert opinion in the individual case. This article is protected by copyright. All rights reserved.
... Advances in ultrasound technology and specifically, the transvaginal approach, have greatly improved image resolution and now allow detailed visualization of fetal anatomy as early as the first trimester of pregnancy. This led to the emergence of a novel field of research, coined "sonoembryology" by Timor-Tritsch and colleagues in 1990 [15] and has played a key role in moving human embryology from post-mortem to in vivo studies [16]. ...
Due to advancements in ultrasound techniques, the focus of antenatal ultrasound screening is moving towards the first trimester of pregnancy. The early first trimester however remains in part, a ‘black box’, due to the size of the developing embryo and the limitations of contemporary scanning techniques. Therefore there is a need for images of early anatomical developmental to improve our understanding of this area. By using new imaging techniques, we can not only obtain better images to further our knowledge of early embryonic development, but clear images of embryonic and fetal development can also be used in training for e.g. sonographers and fetal surgeons, or to educate parents expecting a child with a fetal anomaly.
The aim of this review is to provide an overview of the past, present and future techniques used to capture images of the developing human embryo and fetus and provide the reader newest insights in upcoming and promising imaging techniques. The reader is taken from the earliest drawings of da Vinci, along the advancements in the fields of in utero ultrasound and MR imaging techniques towards high-resolution ex utero imaging using Micro-CT and ultra-high field MRI. Finally, a future perspective is given about the use of artificial intelligence in ultrasound and new potential imaging techniques such as synchrotron radiation-based CT to increase our knowledge regarding human development.
... Most fetal abnormalities can be diagnosed in early pregnancy or during the first trimester due to recent advanced fetal ultrasound. [1][2][3] However, it is challenging to detect brain malformations because the CNS structure is not accomplished in the early stage. The proliferation of neuronal cells, neuronal migration from the ganglionic eminence and ventricular zone (VZ) start from 3 months of gestation. ...
... The detection rate of fetal abnormalities varies, depending on anatomy survey protocol, ultrasound equipment and setting, among other factors [9]. A high-resolution ultrasound can facilitate a detailed diagnostic scan and a first-trimester scan and allow the detection of a small or subtle abnormality [10][11][12]. Although a detailed diagnostic scan is not required for all pregnant women, the indications include family history of congenital malformation, maternal age 35 or above, gestational diabetes mellitus, artificial reproduction technology, body mass index >= 30, teratogen, fetal nuchal translucency >= 3mm, and many other conditions [2]. ...
... ISUOG and recently, AIUM published the practice guidelines on first-trimester fetal ultrasound scan [24,25]. High-resolution ultrasonography allows the early assessment of fetal anatomy [11] (Figure 5a-d, Video S5a,b) and fetal malformations [12]. Fetal heart can be examined in the late first trimester [26], particularly with the use of color Doppler (Video S5c,d). ...
... ISUOG and recently, AIUM published the practice guidelines on first-trimester feta ultrasound scan [24,25]. High-resolution ultrasonography allows the early assessment o fetal anatomy [11] (Figure 5a-d, Video S5a,b) and fetal malformations [12]. Fetal heart ca be examined in the late first trimester [26], particularly with the use of color Dopple (Video S5c,d). ...
Over the years, there have been several improvements in ultrasound technologies including high-resolution ultrasonography, linear transducer, radiant flow, three-/four-dimensional (3D/4D) ultrasound, speckle tracking of the fetal heart, and artificial intelligence. The aims of this review are to evaluate the use of these advanced technologies in obstetrics in the midst of new guidelines on and new techniques of obstetric ultrasonography. In particular, whether these technologies can improve the diagnostic capability, functional analysis, workflow, and ergonomics of obstetric ultrasound examinations will be discussed.
... In this sense, the analysis of facial morphology can provide relevant information and serve as a pre-screening tool, facilitating the early detection of developmental disorders (Menezes et al., 2016;Merz and Welter, 2005). Efforts are being made to shift from diagnosis at birth, or during the first years of life, to prenatal diagnosis, which facilitates parents' counselling and careful planning of delivery and postnatal treatment (Pooh and Kurjak, 2011). However, prenatal diag-Alomar, A., Morales, A., Vellvé, K., Porras, A., Crispi, F., Linguraru, M., Piella, G. and Sukno, F. 3D Fetal Face Reconstruction from Ultrasound Imaging. ...
... The present study showed that as regard heart anomalies of the included women. 72% of the (14). ...
... Opracowana w 2006 roku technika reprogramowania komórek poprzez wprowadzenie zaledwie 4 genów czynników transkrypcyjnych do mysich fibroblastów i uzyskiwania indukowanych pluripotencjalnych komórek macierzystych (iPSC) [30] spowodowała przełom w badaniach nad komórkami macierzystymi. Już rok później udowodniono, że tą samą techniką możliwe jest reprogramowanie ludzkich fibroblastów [31]. Od tej pory pozyskiwanie pluripotencjalnych komórek macierzystych niemal identycznych z ESCs było proste i pozbawione dylematów moralnych [32]. ...
... Tą samą technikę z powodzeniem zastosowano dla ludzkich fibroblastów, jednak wydajność różnicowania była mniejsza, co spowodowane było brakiem specyficznych receptorów ułatwiających wejście wirusa do komórki. Udowodniono, że tak otrzymane ludzkie iPSC mogą formować ciałka embrionalne, być różnicowane do kardiomiocytów, a także tworzyć potworniaki in vivo [31]. Równocześnie inny zespół otrzymał ludzkie iPSC z fibroblastów wykorzystując inny zestaw czynników transkrypcyjnych -Oct4, Sox2, NANOG oraz Lin2 wykorzystując wektory lentiwirusowe [34]. ...
... Leczenie galcanezumabem powinno rozpoczynać się od dawki nasycającej 240mg, podawanej w 2 kolejnych iniekcjach podskórnych po 120mg w udo, ramię lub pośladek. Następnie co miesiąc należy podawać dawki podtrzymujące po 120 mg [31]. Obecnie lek nie jest jeszcze dostępny w Polsce. ...
... The newer technologies have expanded the use of DUS in obstetrics to earlier assessment of fetal anatomy 44 and fetal malformations 45 , as well as functional analysis of the materno-placentalfetal unit. 46 The appeal of diagnosing fetal anomalies as early as possible in the pregnancy is evident, since it offers more options to the parents and the medical staff (Fig. 4). ...
Diagnostic ultrasound (DUS) is, arguably, the most common technique used in obstetrical practice. From A mode, first described by Ian Donald for gynecology in the late 1950s, to B mode in the 1970s, real-time and gray-scale in the early 1980s, Doppler a little later, sophisticated color Doppler in the 1990s and three dimensional/four-dimensional ultrasound in the 2000s, DUS has not ceased to be closely associated with the practice of obstetrics. The latest innovation is the use of artificial intelligence which will, undoubtedly, take an increasing role in all aspects of our lives, including medicine and, specifically, obstetric ultrasound. In addition, in the future, new visualization methods may be developed, training methods expanded, and workflow and ergonomics improved.
