Correlation of Prenatal Ultrasound Diagnosis and Pathologic Findings in Fetal Anomalies

1999 ◽  
Vol 2 (2) ◽  
pp. 131-142 ◽  
Author(s):  
Chen-Chih J. Sun ◽  
Kathryn Grumbach ◽  
Donna T. DeCosta ◽  
Carol M. Meyers ◽  
Jeffrey S. Dungan
Keyword(s):  
Prenatal Diagnosis ◽  
False Positive ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Ultrasound ◽  
Complete Agreement ◽  
Fetal Anomalies ◽  
Autopsy Findings ◽  
Organ Systems ◽  
The Us

This retrospective study compared the prenatal ultrasound (US) diagnosis with autopsy findings in 61 intact fetuses following induced abortion and 36 fragmented fetuses from dilatation and evacuation (D&E). In intact fetuses, complete agreement between US diagnosis and autopsy findings was achieved in 65.6% of cases in the central nervous system (CNS) and 47.5% in other somatic organ systems (SOS). There were major differences between US and autopsy findings involving the CNS in 6.5% of cases and SOS in 27.9%. Correlation was better for evaluation of renal anomalies (complete agreement in 63.6% of 11 suspected cases, 2 false-positive and no false-negative cases) than congenital heart disease (complete agreement in 27.3% of 11 suspected cases, 5 false-positive and 3 false-negative cases). In D&E specimens, a prenatal diagnosis of neural tube defect (NTD) was confirmed in 90% of cases. However, due to fragmentation of fetal parts, the US diagnosis in the CNS could not be confirmed totally (69.4%) or partially (2.8%) in fetuses with chromosomal abnormalities (ChA) or multiple congenital anomalies (MCA). Nonetheless, the US diagnosis of SOS was confirmed in six cases on D&E, including Meckel-Gruber syndrome, cystic hygroma, renal agenesis with contralateral renal dysplasia, cardiac defect, fetal hydrops, and tracheal atresia. Our results show that a thorough autopsy of an intact fetus after abortion is necessary to confirm prenatal diagnosis and allow proper management and counseling. The pathologic examination of D&E specimens can reliably confirm the US diagnosis of NTD, but it is very limited in identifying other fetal anomalies.

Prenatal ultrasound diagnosis of umbilical artery aneurysm with favorable outcome

2018 ◽  
Author(s):  
Yu.V. Shatokha
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Umbilical Artery ◽  
Chromosomal Abnormalities ◽  
Ultrasound Examination ◽  
Artery Aneurysm ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Colour Doppler ◽  
Single Umbilical Artery

The case of prenatal ultrasound diagnosis of single umbilical artery aneurysm is presented. During ultrasound examination at 21 weeks of gestation several anomalies in the umbilical cord were detected: the umbilical right artery was missing and dilatation of the umbilical artery with a diameter 10 mm close to fetus. With colour Doppler and pulsed Doppler was demonstrated arterial turbulent flow in the aneurysm. Prenatal diagnosis of the single umbilical artery aneurysm was made. Other fetal measurements were normal. The diameter of the aneurysm increased throughout the pregnancy till 16 mm at 33 weeks of gestation. Cesarean section was performed at 34 weeks with baby weight 2150 g. The post-delivery examination of the umbilical cord confirmed the prenatal diagnosis. No chromosomal abnormalities were found. After six months the baby is alive and well.

scholarly journals Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Rulin Dai ◽  
Yang Yu ◽  
Qi Xi ◽  
Xiaonan Hu ◽  
Haibo Zhu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Northeast China ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Screening Methods ◽  
Serological Screening ◽  
Diagnostic Center ◽  
Positive Results

Abstract Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to determine the relationships between fetal chromosomal abnormalities and indicators of prenatal abnormalities in Northeast China. Methods We evaluated 4953 16- to 23-week singleton gestation cases using amniocentesis and a total of 3583 participants received serological screening. Fetal chromosomal analyses were performed for all samples using fluorescence in situ hybridization and karyotyping. Results Among these samples, 204 (4.12%) had fetal chromosomal abnormalities. A total of 3583 participants received serological screening, among whom 102 (2.85%) exhibited positive results. A total of 309 participants had ultrasonography; 42 (13.6%) of these had abnormalities. Among 97 participants who had non-invasive prenatal testing (NIPT), 59 (61%) had positive results. Among 1265 participants with advanced maternal age, 78 (6.2%) had abnormal results. Conclusion The serological screening and NIPT that were included in the prenatal screening methods all had false positive and false negative rates. Although they are both prenatal screening techniques, maternal serum screening cannot be replaced by NIPT. The pregnancy women should accept NIPT in a qualified prenatal diagnostic center. We recommend that pregnant women at high or critical risk undergoing prenatal screening should confirm the fetal karyotype through amniocentesis. Moreover, if women receive a positive result via NIPT, they should not have a pregnancy termination without undergoing further prenatal diagnosis.

scholarly journals Noninvasive prenatal testing in megacity

2021 ◽  
Vol 2 (2) ◽  
pp. 75-83
Author(s):  
Anton S. Olenev ◽  
Ekaterina N. Songolova ◽  
Alfina A. Yakshibaeva
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
First Trimester ◽  
Extracellular Dna ◽  
Prenatal Diagnostics ◽  
Individual Risk ◽  
Negative Results ◽  
Trimester Screening

Introduction. The article presents an analysis of the use of non-invasive prenatal testing for chromosomal abnormalities in the fetal extracellular DNA in the blood of pregnant women in Moscow. Materials and methods. When processing materials and research results, authors considered all available clinical data: findings of an ultrasound examination, medical history and results of additional laboratory tests. Results. The article presents results of invasive prenatal diagnostics and pregnancy outcomes in patients with high NIPT risks. Discussion. Authors analyzed diagnostic capabilities of NIPT, its limitations, false-positive and false- negative results, and described 3 cases of prenatal diagnosis of fetal aneuploidy identified in patients who are in the «gray zone» of risk based on the results of combined screening of the first trimester of pregnancy. Conclusion. Prenatal diagnosis of the described aneuploidy is difficult due to individual risk of developing chromosomal abnormalities of the fetus based on the results of combined first-trimester screening in the range of 1:101-1: 2500 and lack of indications for invasive prenatal diagnostics.

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.

Clinical significance of prenatal diagnosis of macrosomia by ultrasound

2014 ◽  
Vol 63 (3) ◽  
pp. 12-20
Author(s):  
Irina Yuryevna Bayeva
Keyword(s):  
Birth Weight ◽  
Prenatal Diagnosis ◽  
False Positive ◽  
False Negative ◽  
Fetal Weight ◽  
True Positive ◽  
Perinatal Complications ◽  
True Negative ◽  
Average Accuracy ◽  
Study Population

Оbjective: Establish the diagnostic value of ultrasound examination in prenatal diagnosis of macrosomia among the women without diabetes and to determine its effect on birth outcomes. Мethods: This is a retrospective cohort study done at the Orenburg municipal perinatal center and maternity hospital № 2 since 2006 to 2012. In this study 3760 pregnant women were analyzed who delivered term, singleton, live born infants. The estimated fetal sonographic weight by the formula Hadlock’s was obtained within the last week prior to delivery. The study population was divided into 4 groups (true positive, true negative, false positive, false negative) according to the estimated fetal weight (EFW) and regarding the birth weight (BW). Receiver-operating characteristics (ROC) curves were generated to compare the prediction of macrosomia when using different observation methods. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy were calculated. The mean value of two groups were compared using two sample t test and χ² test for comparison of proportions. Results: In order to assess the accuracy of the ultrasound in prenatal diagnosis of macrosomia the study population was divided into 4 groups according to the estimated fetal weight (EFW) and regarding the birth weight (BW): true positive (n-147), false negative (n-229 ), false positive (n-353), true negative (n-3031). Results of the study showed no statistically significant differences between the birth weight and estimated fetal weifht by ultrasound alone only in the macrosomia group with true-positive results (p = 0.9). In applying the ROC (Receiver Operating Characteristic curve) performance analysis sensitivity and spesificity in the prediction of the macrosomia by ultrasound revealed the average predictive power of the method. Area under the curve (Area under ROC curve, AUC) made 0.7295 (95 % CI: 0.695-0.781), which corresponds to a predetermined average accuracy. The accuracy of macrosomia prediction by ultrasound methods was 90 %, sensitivity - 35 %, specificity - 93,5 %. Сesarian sections were performed for 40 % of the pregnant women, where fetal macrosomia was truly ruled in (true positive) and 16% of the women who delivered normal weight infants (true negative). Overestimation of fetal weight (false positive) has led to the 30 % rate of cesarean sections. Underestimation of fetal weight (false negative) has decreased to the 24% rate of cesarean sections but in this case perinatal complications have increased. Conclusion: Results showed an average accuracy in predicting macrosomia by the formula Hadlock’s. The results of the study have proved that the inappropriate prediction macrosomia of fetal weight has influence on the mode of delivery. Overestimation of fetal weight has led the proportion of cesarian sections. Underestimation of fetal macrosomia has increased perinatal complications.

scholarly journals Epidemiological Aspects, Prenatal Screening and Diagnosis of Congenital Heart Defects in Beijing

2021 ◽  
Vol 8 ◽  
Author(s):  
Yanchun Zhang ◽  
Wen Zhang ◽  
Hongyan Xu ◽  
Kaibo Liu
Keyword(s):  
Risk Factors ◽  
Prenatal Diagnosis ◽  
Birth Defect ◽  
Maternal Age ◽  
Congenital Heart ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Prenatal Ultrasound ◽  
Ultrasound Screening ◽  
High Risk Factors

Background: In China, congenital heart disease (CHD) is the most common birth defect type, with approximately 13,000 new cases annually. This study aimed to investigate high-risk factors, prenatal screening and prenatal diagnosis as a basis for clinical decisions.Methods: All CHD cases identified from 2018 to 2020 were obtained from the Beijing city birth defect surveillance system and prenatal diagnosis institutions. The prenatal CHD diagnosis was confirmed by fetal echocardiography and amniotic fluid or cord blood genetic examination. Chi-square, odds ratio (OR), 95% confidence interval (CI), and univariate and multivariate logistic analyses were used to explore the high-risk factors, prenatal screening and prenatal diagnosis of CHD. Results: In total, 6,786/594,860 fetuses with CHD were diagnosed by prenatal echocardiography. The average incidence of CHD was 11.4 per 1,000 births, with an increase of 30.7 per 1,000 births from 2018 to 2020 (P < 0.05); the average incidence of complex CHD (CCHD) was 2.02 per 1,000 births, with no significant change from 2018 to 2020 (P > 0.05). Women age ≥35 years (OR 1.06, 95% CI 0.77–1.46) was at higher risk of having babies with CHD than women aged 21–34 years. Overall, CHD incidence increased with maternal age (OR1.03, 95% CI 1.02–1.03). Additionally, women who had a non-local household registration (OR 1.16, 95% CI 1.10–1.22) or had diabetes mellitus (DM) (OR 1.16, 95% CI 0.96–1.25) were at higher risk of CHD. As an independent factor, CCHD was related to maternal age, DM, fetal gender, and maternal education level (all P < 0.05). The prenatal ultrasound screening detection rate of CCHD was 97.59%, which was far higher than that of total CHD (51.67%) (P < 0.001). The prenatal ultrasound diagnosis rate of CCHD was higher than that of simple CHD (P < 0.001), but the coincidence rate in the ultrasound diagnosis of CCHD was lower than that of simple CHD (P < 0.001). Prenatal genetic testing revealed chromosomal abnormalities in 25.62% (279/1089) of CHD cases with indications for a prenatal diagnosis.Conclusions: Maternal age, household registration and DM were related to CHD occurrence. Prenatal ultrasound screening is a highly effective method for CCHD diagnosis, and CHD fetuses should be closely evaluated to exclude chromosomal abnormalities.

A Review of Five Cases of Fetal Congenital Anomalies Diagnosed during Prenatal Ultrasound: Management Problems and Limitations

2016 ◽  
Vol 10 (2) ◽  
pp. 136-142
Author(s):  
Aliyu L Dayyabu ◽  
Dattijo L Makama ◽  
Attah R Avidime ◽  
Murtala Yusuf
Keyword(s):  
Developing Countries ◽  
Prenatal Diagnosis ◽  
Perinatal Mortality ◽  
Congenital Anomalies ◽  
Developed Countries ◽  
Prenatal Ultrasound ◽  
Fetal Anomalies ◽  
Obstructed Labor ◽  
Low Resource ◽  
Management Problems

ABSTRACT Congenital/fetal anomalies are structural, functional, and/or biochemical–molecular defects present at birth whether detected at that time or not. Prevalence of congenital fetal anomalies in developing countries especially in Africa is underestimated. They are seen in 2 to 3% of newborns and about 94% of severe birth defects are seen in low-resource countries. Currently, they account for 20 to 30% of perinatal mortality in developed countries. Their contribution to perinatal mortality may be much higher in developing countries. They are also an important cause of maternal mortality in developing countries because they cause prolonged obstructed labor, ruptured uterus, postpartum hemorrhage, and sepsis. Ultrasound is a very important tool in prenatal diagnosis, but ultrasound usage faces a lot of challenges in Africa. When congenital anomalies are diagnosed in Africa, management becomes a challenge as patients may not even accept the diagnosis or the line of management and this leads to catastrophic complications for the mother and her unborn infant. To overcome these challenges, various measures must be taken, such as training for practitioners, provision of equipments, community enlightenments concerning causes, possible management, and prevention. This review is meant to highlight some of the challenges facing prenatal diagnosis and management of prenatally diagnosed congenital fetal anomalies in low-resource environments and suggest the way forward. How to cite this article Dayyabu AL, Makama DL, Avidime AR, Yusuf M. A Review of Five Cases of Fetal Congenital Anomalies Diagnosed during Prenatal Ultrasound: Management Problems and Limitations. Donald School J Ultrasound Obstet Gynecol 2016;10(2):136-142.

Correlation between prenatal ultrasound and fetal autopsy findings in fetal anomalies terminated in the second trimester

2007 ◽  
Vol 27 (5) ◽  
pp. 457-462 ◽  
Author(s):  
Hulya Akgun ◽  
Mustafa Basbug ◽  
Mahmut Tuncay Ozgun ◽  
Ozlem Canoz ◽  
Fatma Tokat ◽  
...  
Keyword(s):  
Prenatal Ultrasound ◽  
Second Trimester ◽  
Fetal Anomalies ◽  
Fetal Autopsy ◽  
Autopsy Findings

scholarly journals Twinkle artifact in renal ultrasound, is it a solid point for the diagnosis of renal stone in children?

2021 ◽  
Vol 21 (87) ◽  
pp. 282-285
Author(s):  
Moath AlSaiady ◽  
Ahmad Alqatie ◽  
Musab Almushayqih
Keyword(s):  
False Positive ◽  
Left Kidney ◽  
False Negative ◽  
Solid Point ◽  
Renal Ultrasound ◽  
True Positive ◽  
Reference Standard ◽  
Stone Size ◽  
Study Results ◽  
The Us

Background: Twinkle artifact, also known as color Doppler comet-tail artifact, occurs behind very strong, granular, and irregular reflecting interfaces such as crystals, stones, or calcification. This is visualized as a random mixture of red and blue pixels in the high-frequency shift spectrum located deep to the interface. Study results have suggested that the sonographic twinkling artifact may aid in the detection of renal stones with a variety of reference standard imaging modalities, including abdominal radiography, excretory urography, gray-scale sonography, and CT. Material and methods: Our retrospective observational study included children who had undergone abdomen/renal ultrasound for kidneys stones in our radiology department between 2013 and 2019. Presence of the twinkle artifact, and stone numbers and sizes were documented. CT examinations done <3 months prior to or after US were retrospectively assessed to confirm the presence of kidney stones as a reference standard. Results: Thirty-three abdominal renal US scans of 33 patients (21 males, 12 females) fulfilled the entry criteria. The interval between the US and CT was <3 months for all patients. The median overall age of the patients was 4 years (IQR: 3.125, range: 1– 165 months), The median number of days between the US and CT was 13 (IQR: 26, range: 0–81 days). US detected 33 hyperechoic foci suspected to be stones; 26 were confirmed as true positive (i.e. showed the twinkle artifact and were seen in CT), 4 were false positive (showed the twinkle artifact but were not seen in CT), and 3 were false negative (did not show the twinkle artifact but were seen in CT). The overall median stone size was 2 mm in the right kidney, and 5 mm in the left kidney (IQR: 6,11 mm), respectively. Twinkle artifact sensitivity was found to be 89.7% (95% CI 39.574%–90%). The twinkle artifact was assessed in all true-positive stones, determining a relatively high PPV of 26/29 (86.7%) for the twinkle artifact. The twinkle artifact was not dependent on stone size. Specificity for the twinkle artifact could not be calculated due to a lack of true negatives. Conclusion: The twinkle artifact is a sensitive US tool for detecting pediatric kidney and ureter stones, but with a small risk of false positive findings.

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