To evaluate the clinical value of three dimensional ultrasonography (3DUS) in prenatal diagnosis, 134 pregnant women with high risk factors in second and third trimester were examined by 3DUS. The results showed tha...To evaluate the clinical value of three dimensional ultrasonography (3DUS) in prenatal diagnosis, 134 pregnant women with high risk factors in second and third trimester were examined by 3DUS. The results showed that 3DUS could provide more diagnostic information, exclude the abnormalities and enhance the confidence level of physician in 102 normal pregnant women. 3DUS was helpful in the diagnosis in 17 (60.7 %) of 28 cases of fetal anomalies. However, 3DUS was not useful in evaluating intrauterine growth retardation in 4 cases. It is conclucded that 3DUS is helpful in prenatal diagnosis.展开更多
BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum.With the development of ultrasonography(US)prenatal screening,such facial malformations can be detected and diagnosed pre...BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum.With the development of ultrasonography(US)prenatal screening,such facial malformations can be detected and diagnosed prenatally rather than at birth.Although three-dimensional US(3DUS)can render the fetus'face via 3D reconstruction,the 3D images are displayed on two-dimensional screens without field depth,which impedes the understanding of untrained individuals.In contrast,a 3D-printed model of the fetus'face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects.Herein,we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model.CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22nd wk of gestation.The coronal nostril-lip section of two-dimensional US(2DUS)demonstrated that the fetus'bilateral oral commissures were asymmetrical,and left oral commissure was abnormally wide.The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek.The results of 3DUS confirmed the cleft.Furthermore,we created a model of the fetal face using 3D printing technology,which clearly presented facial malformations.The fetus was diagnosed with a left lateral facial cleft,which was categorized as a No.7 facial cleft according to the Tessier facial cleft classification.The parents terminated the pregnancy at the 24th wk of gestation after parental counseling.CONCLUSION In the diagnostic course of the current case,in addition to the traditional application of 2D and 3DUS,we created a 3D-printed model of the fetus,which enhanced diagnostic evidence,benefited the education of junior doctors,improved parental counseling,and had the potential to guide surgical planning.展开更多
To investigate the clinical value of three dimensional ultrasonography (3DUS) in obstetrics, various 3DUS rendering methods including surface mode, transparent mode and multiplanar mode were employed to scan 30 fetus...To investigate the clinical value of three dimensional ultrasonography (3DUS) in obstetrics, various 3DUS rendering methods including surface mode, transparent mode and multiplanar mode were employed to scan 30 fetuses in second and third trimester by using the transabdominal volume transducer. The results showed that surface mode could vividly demonstrate the surface morphologic features of the fetuses, as well as the stereo shape and the spatial relationship among the surface structures. The face, limbs, umbilical cord and outer genitalia of the fetus could be well displayed by surface mode. Transparent mode could reveal the bony structures under the surface, such as ribs, vertebrae, crania, etc. The result was not affected by the sophisticated curvature of these bony structures and the success rate was up to 100 %. When rendered by multiplanar mode, the region of interest (ROI) could be viewed from different directions. It should be concluded that 3DUS could serve as a supplement to two dimensional ultrasonography (2DUS). 3DUS might play an important role in prenatal diagnosis and enhance the diagnostic confidence level of the physicians.展开更多
Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyz...Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were reviewed.Prenatal ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were discussed.Results Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX 1 gene mutation was found in 1 fetus.The other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX 1 gene mutation.Among 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00%)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33%)detected with prenatal ultrasound.Conclusion Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal CS.When one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.展开更多
BACKGROUND Klippel-Trenaunay syndrome(KTS)is a rare congenital disorder.A detailed prenatal ultrasound examination plays an important role in the diagnosis of KTS and the subsequent counseling and follow-up of the pat...BACKGROUND Klippel-Trenaunay syndrome(KTS)is a rare congenital disorder.A detailed prenatal ultrasound examination plays an important role in the diagnosis of KTS and the subsequent counseling and follow-up of the patient.CASE SUMMARY A 25-year-old woman attended our department for a regular examination.The whole of the right lower extremity and right buttock were observed to be markedly thicker compared to the left one at 18 wk of gestation.However,the lengths of the right femur,tibia and fibula were in the normal range.No marked edema and fluid/cystic spaces were detected in the lower limbs.There were no other organ abnormalities.The vasculature in the right limb was visibly dilated,with much higher intensive blood flow signals.No congenital embryonic veins were visible in both limbs.The right lower limb exhibited much more hypertrophy compared to the left limb two weeks later.Amniocentesis and genetic tests showed normal results with 46 XX.Despite the normal karyotype,the family opted to terminate the pregnancy.The post-mortem examination confirmed asymmetric hypertrophy of the right limb in the fetus and revealed a large area of marked dark-purple superficial capillary malformations occupying the skin of the right lower extremity.The enlargement of veins and soft tissue hypertrophy were also seen on postnatal X-ray and Magnetic Resonance Imaging.Autopsy revealed severe congestion in the right lower limb.A final diagnosis of KTS was made.CONCLUSION KTS may be diagnosed prenatally based on the typical features observed during ultrasound examination.展开更多
In the last few years,the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or,at times,even the first-tier screening test.Should an early anomaly...In the last few years,the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or,at times,even the first-tier screening test.Should an early anomaly scan also be part of an up-to-date screening policy? This paper reappraises the value of fetal first-trimester ultrasonography.The primary aims of the first-trimester scan are to establish gestational age based on the measurement of fetal crown-rump length,to detect multiple pregnancy and chorionicity,and to measure fetal nuchal translucency thickness as part of a combined screening test for chromosomal abnormalities.With recent advancements in ultrasound technology,there is compelling evidence that a majority of fetuses with major structural abnormalities and almost half of them without chromosomal abnormalities can be detected in the first trimester.We focused on the first-trimester screening of fetal major defects,especially including fetal congenital heart disease and cleft lip and palate by ultrasound markers and views.Moreover,it is critical to highlight that after a detailed anomaly scan in the first trimester without major structural anomalies and positive genetic tests,the residual chance of favorable outcome in fetuses with isolated increased nuchal translucency is relatively high.The discussion on the role of cell-free DNA in prenatal screening is still ongoing.Even in the event of it becoming a first-line screening test for aneuploidies,the importance of a first-trimester fetal scan,including assessment of markers for other anomalies,remains undisputed.展开更多
Four cases of proximal femoral focal deficiency (PFFD) in an otherwise healthy infant are described. Antenatal diagnosis was made at 27, 23, 23 and 18 weeks of gestation by routine ultrasound (US) examination. Compute...Four cases of proximal femoral focal deficiency (PFFD) in an otherwise healthy infant are described. Antenatal diagnosis was made at 27, 23, 23 and 18 weeks of gestation by routine ultrasound (US) examination. Computer Tomography (CT) was performed after 30 weeks of gestation and confirmed the images obtained by US. The diagnosis was confirmed after delivery. These cases illustrate the importance of combining US and CT to improve accuracy of prenatal diagnosis of skeletal disorders.展开更多
Caput succedaneum is relatively common at birth but infrequently diagnosed in utero. We report the first case of a prenatal incarcerated caput succedaneum after cervical cerclage in a patient with premature rupture of...Caput succedaneum is relatively common at birth but infrequently diagnosed in utero. We report the first case of a prenatal incarcerated caput succedaneum after cervical cerclage in a patient with premature rupture of the membranes(PPROM). A 41-year-old woman was referred and admitted to our hospital due to PPROM at 19 wk of gestation. Aggressive therapy, including amnioinfusion, cervical cerclage, and administration of antibiotics and tocolysis, was initiated. At 24 wk of gestation, a thumb tip-sized and polyp-like mass, which was irreducible, was delineated with a vaginal examination, vaginal speculum, and transvaginal ultrasonography, leading to the diagnosis of incarcerated caput succedaneum. Under general anesthesia, the incarcerated caput succedaneum was repositioned with fingers after cutting the string to avoid necrosis, and then, placement of a Mc Donald cervical cerclage was undertaken again. At 26 wk of gestation, she delivered a 678 g girl through an emergency cesarean section performed due to profuse bleeding and prolonged decelerations. A slight bulge with hair was observed on the head by palpation at birth. Cephalic ultrasonography, X-ray, magnetic resonance imaging and electroencephalogram confirmed no abnormality. Although the baby needed oxygen(0.2 L/min) at the time of hospital discharge, she has grown favorably at three years of corrected age.展开更多
基金This project was a science research- planning schemesponsored by Educational Committee of Hubei Province (No.99C0 6 9) and a fifth Three- year Research- planning Schemeof Medicine sponsored by Hubei Provincial Health Bureau(Serial No.WJ0 15 19)
文摘To evaluate the clinical value of three dimensional ultrasonography (3DUS) in prenatal diagnosis, 134 pregnant women with high risk factors in second and third trimester were examined by 3DUS. The results showed that 3DUS could provide more diagnostic information, exclude the abnormalities and enhance the confidence level of physician in 102 normal pregnant women. 3DUS was helpful in the diagnosis in 17 (60.7 %) of 28 cases of fetal anomalies. However, 3DUS was not useful in evaluating intrauterine growth retardation in 4 cases. It is conclucded that 3DUS is helpful in prenatal diagnosis.
文摘BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum.With the development of ultrasonography(US)prenatal screening,such facial malformations can be detected and diagnosed prenatally rather than at birth.Although three-dimensional US(3DUS)can render the fetus'face via 3D reconstruction,the 3D images are displayed on two-dimensional screens without field depth,which impedes the understanding of untrained individuals.In contrast,a 3D-printed model of the fetus'face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects.Herein,we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model.CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22nd wk of gestation.The coronal nostril-lip section of two-dimensional US(2DUS)demonstrated that the fetus'bilateral oral commissures were asymmetrical,and left oral commissure was abnormally wide.The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek.The results of 3DUS confirmed the cleft.Furthermore,we created a model of the fetal face using 3D printing technology,which clearly presented facial malformations.The fetus was diagnosed with a left lateral facial cleft,which was categorized as a No.7 facial cleft according to the Tessier facial cleft classification.The parents terminated the pregnancy at the 24th wk of gestation after parental counseling.CONCLUSION In the diagnostic course of the current case,in addition to the traditional application of 2D and 3DUS,we created a 3D-printed model of the fetus,which enhanced diagnostic evidence,benefited the education of junior doctors,improved parental counseling,and had the potential to guide surgical planning.
基金This project was a science research- planning scheme sponsored by Educational Com mittee of Hubei Province (No:99C0 6 9)
文摘To investigate the clinical value of three dimensional ultrasonography (3DUS) in obstetrics, various 3DUS rendering methods including surface mode, transparent mode and multiplanar mode were employed to scan 30 fetuses in second and third trimester by using the transabdominal volume transducer. The results showed that surface mode could vividly demonstrate the surface morphologic features of the fetuses, as well as the stereo shape and the spatial relationship among the surface structures. The face, limbs, umbilical cord and outer genitalia of the fetus could be well displayed by surface mode. Transparent mode could reveal the bony structures under the surface, such as ribs, vertebrae, crania, etc. The result was not affected by the sophisticated curvature of these bony structures and the success rate was up to 100 %. When rendered by multiplanar mode, the region of interest (ROI) could be viewed from different directions. It should be concluded that 3DUS could serve as a supplement to two dimensional ultrasonography (2DUS). 3DUS might play an important role in prenatal diagnosis and enhance the diagnostic confidence level of the physicians.
文摘Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of CS.Methods Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were reviewed.Prenatal ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were discussed.Results Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX 1 gene mutation was found in 1 fetus.The other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX 1 gene mutation.Among 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00%)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33%)detected with prenatal ultrasound.Conclusion Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal CS.When one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.
文摘BACKGROUND Klippel-Trenaunay syndrome(KTS)is a rare congenital disorder.A detailed prenatal ultrasound examination plays an important role in the diagnosis of KTS and the subsequent counseling and follow-up of the patient.CASE SUMMARY A 25-year-old woman attended our department for a regular examination.The whole of the right lower extremity and right buttock were observed to be markedly thicker compared to the left one at 18 wk of gestation.However,the lengths of the right femur,tibia and fibula were in the normal range.No marked edema and fluid/cystic spaces were detected in the lower limbs.There were no other organ abnormalities.The vasculature in the right limb was visibly dilated,with much higher intensive blood flow signals.No congenital embryonic veins were visible in both limbs.The right lower limb exhibited much more hypertrophy compared to the left limb two weeks later.Amniocentesis and genetic tests showed normal results with 46 XX.Despite the normal karyotype,the family opted to terminate the pregnancy.The post-mortem examination confirmed asymmetric hypertrophy of the right limb in the fetus and revealed a large area of marked dark-purple superficial capillary malformations occupying the skin of the right lower extremity.The enlargement of veins and soft tissue hypertrophy were also seen on postnatal X-ray and Magnetic Resonance Imaging.Autopsy revealed severe congestion in the right lower limb.A final diagnosis of KTS was made.CONCLUSION KTS may be diagnosed prenatally based on the typical features observed during ultrasound examination.
文摘In the last few years,the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or,at times,even the first-tier screening test.Should an early anomaly scan also be part of an up-to-date screening policy? This paper reappraises the value of fetal first-trimester ultrasonography.The primary aims of the first-trimester scan are to establish gestational age based on the measurement of fetal crown-rump length,to detect multiple pregnancy and chorionicity,and to measure fetal nuchal translucency thickness as part of a combined screening test for chromosomal abnormalities.With recent advancements in ultrasound technology,there is compelling evidence that a majority of fetuses with major structural abnormalities and almost half of them without chromosomal abnormalities can be detected in the first trimester.We focused on the first-trimester screening of fetal major defects,especially including fetal congenital heart disease and cleft lip and palate by ultrasound markers and views.Moreover,it is critical to highlight that after a detailed anomaly scan in the first trimester without major structural anomalies and positive genetic tests,the residual chance of favorable outcome in fetuses with isolated increased nuchal translucency is relatively high.The discussion on the role of cell-free DNA in prenatal screening is still ongoing.Even in the event of it becoming a first-line screening test for aneuploidies,the importance of a first-trimester fetal scan,including assessment of markers for other anomalies,remains undisputed.
文摘Four cases of proximal femoral focal deficiency (PFFD) in an otherwise healthy infant are described. Antenatal diagnosis was made at 27, 23, 23 and 18 weeks of gestation by routine ultrasound (US) examination. Computer Tomography (CT) was performed after 30 weeks of gestation and confirmed the images obtained by US. The diagnosis was confirmed after delivery. These cases illustrate the importance of combining US and CT to improve accuracy of prenatal diagnosis of skeletal disorders.
文摘Caput succedaneum is relatively common at birth but infrequently diagnosed in utero. We report the first case of a prenatal incarcerated caput succedaneum after cervical cerclage in a patient with premature rupture of the membranes(PPROM). A 41-year-old woman was referred and admitted to our hospital due to PPROM at 19 wk of gestation. Aggressive therapy, including amnioinfusion, cervical cerclage, and administration of antibiotics and tocolysis, was initiated. At 24 wk of gestation, a thumb tip-sized and polyp-like mass, which was irreducible, was delineated with a vaginal examination, vaginal speculum, and transvaginal ultrasonography, leading to the diagnosis of incarcerated caput succedaneum. Under general anesthesia, the incarcerated caput succedaneum was repositioned with fingers after cutting the string to avoid necrosis, and then, placement of a Mc Donald cervical cerclage was undertaken again. At 26 wk of gestation, she delivered a 678 g girl through an emergency cesarean section performed due to profuse bleeding and prolonged decelerations. A slight bulge with hair was observed on the head by palpation at birth. Cephalic ultrasonography, X-ray, magnetic resonance imaging and electroencephalogram confirmed no abnormality. Although the baby needed oxygen(0.2 L/min) at the time of hospital discharge, she has grown favorably at three years of corrected age.
