scholarly journals Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi Zhou ◽  
Liang Li ◽  
Ling Wang ◽  
Chaoxue Zhang
Keyword(s):  
Prenatal Diagnosis ◽  
Family History ◽  
Literature Review ◽  
Prenatal Ultrasound ◽  
Third Trimester ◽  
Case Presentation ◽  
Image Characteristics ◽  
Harlequin Ichthyosis ◽  
2D Ultrasound ◽  
Missed Diagnoses

Abstract Background Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There are few reports on prenatal diagnosis in PubMed. Case presentation We report two cases of HI with no family history who were diagnosed by prenatal ultrasound. We searched for reports on the prenatal ultrasonic diagnosis of HI over nearly two decades and summarized the sonographic features of HI, the reasons for missed diagnoses and matters needing attention. A total of 10 articles of congenital harlequin ichthyosis diagnosed by prenatal ultrasound in PubMed were retrieved. There have been even fewer reports of late-trimester disease with no family history. Combining the two cases we reported with the literature review, we summarize the ultrasonic image characteristics of HI. Conclusion HI can be easily detected by 2D ultrasound combined with 3D, but attention should be paid to a systematic examination in the third trimester of pregnancy according to the clinical characteristics of the disease.

Experience of prenatal diagnosis of true knots of the umbilical cord during ultrasound examination in the third trimester of gestation

2019 ◽  
Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Ultrasound Examination ◽  
Technological Advance ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Third Trimester ◽  
The Third

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.

Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Giulia Garofalo ◽  
Marie Cassart ◽  
Julie Désir ◽  
Dominique Thomas
Keyword(s):  
Prenatal Diagnosis ◽  
Family History ◽  
Genetic Diagnosis ◽  
Ultrasound Diagnosis ◽  
Second Trimester ◽  
Fetal Ultrasound ◽  
Case Presentation ◽  
Sonographic Diagnosis ◽  
Congenital Ichthyosis ◽  
Prenatal Genetic Diagnosis

Abstract Background Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis.

Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review

2005 ◽  
Vol 26 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Madeleine Azarian ◽  
Sophie Dreux ◽  
Edith Vuillard ◽  
Guerrino Meneguzzi ◽  
Saranda Haber ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Family History ◽  
Literature Review ◽  
Epidermolysis Bullosa ◽  
Inherited Epidermolysis Bullosa

scholarly journals 3D/4D Volumetry in the Second and Third Trimester of Pregnancy

2009 ◽  
Vol 3 (2) ◽  
pp. 18-24
Keyword(s):  
Prenatal Diagnosis ◽  
Potential Benefit ◽  
Three Dimensional ◽  
Review Of The Literature ◽  
Third Trimester ◽  
Technical Aspects ◽  
Volume Calculations ◽  
Fetal Malformations ◽  
2D Ultrasound ◽  
Technological Improvements

ABSTRACT Purpose of the review The technological improvements have greatly progressed on three-dimensional ultrasonography. This review summarizes these technical changes and the latest advances of their use in prenatal diagnosis. Material and methods Review of the literature. Results The new technical aspects of the volumetry, improvement of different render modes, the postprocessing modalities, and innovations on volume calculations are extensively described, as well as detailed, organ based diagnosis of different malformations in the second and third trimester are summarized. Conclusion Though the traditional 2D ultrasound with high resolution provides a great diagnostic tool in detection of fetal malformations, there is no doubt that the 3D/4D technique offers a new power in prenatal diagnosis. Three-dimensional ultrasound can assist in the diagnosis of different, rare malformations because it offers a potential benefit of understanding spatial relationships of normal and abnormal fetal anatomy.

Сhorionic bump: analysis of 16 cases and literature review

2018 ◽  
Author(s):  
N.A. Altynnik, M.V. Medvedev, Å.G. Voytuk
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Literature Review ◽  
Risk Group ◽  
First Trimester ◽  
High Risk Group ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Threatened Miscarriage ◽  
Dynamic Ultrasound

Sixteen cases of prenatal ultrasound diagnosis of chorionic bump at 6–29 weeks of gestation, as well as an analysis of the literature covering 97 cases of prenatal diagnosis of chorionic bump is presented. All cases of chorionic bump was isolated. In 14 (87.5 %) cases the outcome of pregnancy was favourable, in 2 (12.5 %) cases were poor outcome. Сhorionic bump on first-trimester sonography is not necessarily associated with a guarded prognosis, but it condition is recommended to assign the patient to the high-risk group of a threatened miscarriage and ensure careful dynamic ultrasound observation.

scholarly journals Prenatal Diagnosis of Corpus Callosum Agenesis in Four Fetuses

2020 ◽  
Author(s):  
Jiao Zheng ◽  
Tingting Song ◽  
Jia Li ◽  
Ying Xu ◽  
Pengfei Liu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Chromosomal Abnormalities ◽  
Ultrasound Examination ◽  
Prenatal Ultrasound ◽  
Chromosomal Microarray ◽  
Case Presentation ◽  
Corpus Callosum Agenesis ◽  
Main Pathway ◽  
Chromosome Microarray

Abstract Background: The corpus callosum is the main pathway connect the interhemispheric communication. Corpus callosum agenesis from asymptomatic to mild or severe neurodevelopmental disorders. However, few cases have been previously reported in the literature on prenatal diagnosis between corpus callosum agenesis and chromosomes abnormality. The study included prenatal diagnosis of 4 fetuses in whom prenatal ultrasound showed corpus callosum abnormality, isolated or associated with other central nervous lesions.Case presentation: Prenatal diagnoses of four children were summarized in our case. The routine prenatal ultrasound examination showed abnormal morphology of corpus callosum in fetus 1, dysplasia of the corpus callosum in fetus 3, the corpus callosum absence in fetus 2 and fetus 4, and fetus 4 also had cardiac abnormalities. Chromosomal microarray and G-band karyotype analysis were performed to provide genetic analysis of amniotic fluid. The results revealed 4.8M deletion at 1p36.33p36.31 in fetus 1, 3.1M deletion at Xq26.3q27.1 in fetus 2, 6.5M deletion at distal 1q43q44 and a duplication of 8.8M at 7q36.1q36.3 in fetus 3, fetus 4 had a deletion of 9.51M at 1p36.33p36.22 and 14.3M duplication at 6q25.3q27.Conclusion: The genetic mechanism of corpus callosum agenesis is variably complex, and its clinical phenotype may occur either alone or in association with other abnormalities. This study revealed the microabnormalities of multiple chromosomes are related to the corpus callosum abnormality. Combined with ultrasound examination, the application of chromosome microarray analysis will effectively improve the diagnosis of congenital submicroscopic chromosomal abnormalities in fetuses.

scholarly journals Prenatal Diagnosis of Congenital Harlequin Ichthyosis with Two- and Three-Dimensional Ultrasound in the Third Trimester

2013 ◽  
Vol 21 (4) ◽  
pp. 221-225 ◽  
Author(s):  
Yan Wen ◽  
Song-Ling Zhang ◽  
Jin He ◽  
Xiao-Xia Zhang ◽  
Xiao-Wei Yu
Keyword(s):  
Prenatal Diagnosis ◽  
Three Dimensional ◽  
Third Trimester ◽  
The Third ◽  
Harlequin Ichthyosis

Prenatal ultrasound diagnosis of pelvic tumors. I. Sacrococcygeal teratomas. Literature review

2019 ◽  
Author(s):  
I.V. Tikhonenko
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Mode Of Delivery ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Ultrasound Images ◽  
Pelvic Tumors ◽  
Different Types

Literature review on ultrasound prenatal diagnosis of sacrococcygeal teratomas, including complications, prognosis, management and time and mode of delivery is presented. Ultrasound images of different types of sacrococcygeal teratomas are demonstrated.

Sonography in prenatal diagnosis of congenital adrenal hyperplasia

2018 ◽  
Author(s):  
U.À. Strupeneva
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Adrenal Hyperplasia ◽  
Third Trimester

The case of prenatal ultrasound diagnosis of congenital adrenal hyperplasia in the fetus in third trimester of gestation, verified after birth, is presented.

scholarly journals Pregnancy Outcomes of Non-Visualization of The Foetal Gallbladder From A Chinese Tertiary Single Centre And Literature Review

2022 ◽  
Author(s):  
Huijing Zhang ◽  
Xiaoying Zhu ◽  
Jinling Kang ◽  
Huixia Yang ◽  
Yu Sun
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Biliary Atresia ◽  
Clinical Features ◽  
Pregnancy Outcomes ◽  
Prenatal Ultrasound ◽  
Single Centre ◽  
Abnormal Result ◽  
Peking University ◽  
Congenital Biliary Atresia

Abstract Objection To explore the clinical features and prognosis of non-visualization of fetal gallbladder (NVFGB). Methods 65 cases diagnosed of NVFGB in the Peking University First Hospital was collected retrospectively from January, 2019 to December, 2020. Results 49 cases were successfully followed up. Among them, the gallbladder of 21 fetuses (42.9%) was visible later, either in the later pregnancy or after birth. In the rest 28 cases (57.1%), the gallbladders were not seen during the whole pregnancy. 11 of 28 fetuses (39.3%) with NVFGB were complicated with other structure anomaly. In the remaining 17 cases of isolated NVFGB (60.7%), one case was diagnosed of congenital biliary atresia, 3 cases of small gallbladder, 1 case of gallstone and one case of irregular size of gallbladder. There are 9 cases who underwent prenatal diagnosis, with 4 cases of abnormal result. Conclusion Prenatal ultrasound plays a role in the early recognize of abnormal gallbladder, which will improve the postnatal prognosis.

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