Ways of improving the diagnosis of fetal  non-chromosomal abnormalities on routine  ultrasound examination at 11-13 weeks of gestation

Context.—Despite increased use of dilation and evacuation in the setting of fetuses with developmental anomalies, the pathology examination of fragmented specimens obtained by this technique has been understudied. Objectives.—To correlate pathologic findings in second-trimester fetal dilation and evacuation specimens with prenatal diagnoses established through ultrasound and/or chromosome studies to determine the value of pathology examination for supplementing or correcting clinical diagnoses. Design.—In this retrospective study, clinical and pathology findings were correlated in 448 dilation and evacuation specimens performed for second-trimester termination of pregnancy for fetal anomalies discovered on ultrasound examination (278 cases) or chromosome analysis (170 cases). Results.—In 109 of the 170 cases with chromosomal abnormalities (64%), pathologists identified at least 1 congenital defect associated with the respective karyotype. In 278 cases with ultrasound-detected anomalies, pathologists confirmed the major congenital defect in 116 fetal specimens (42%). Evaluating for congenital central nervous system and body wall/diaphragm pathologic findings proved challenging owing to tissue disruption. However, taking all categories into account, pathology studies corrected ultrasound diagnoses in 152 of 413 cases (37%) and yielded additional diagnostic findings in 137 cases (33%). Conclusions.—In a substantial number of cases, examination of fragmented fetuses corrected or refined prenatal diagnoses, demonstrating a role for detailed pathology examination of dilation and evacuation specimens in quality control of prenatal imaging studies and for potentially aiding subsequent genetic counseling.

Download Full-text

Ultrasound elastography capabilities in studying uterine cerviх state in pregnant women of high-risk group in the first trimester of pregnancy

Kazan medical journal ◽

10.17750/kmj2015-656 ◽

2016 ◽

Vol 97 (4) ◽

pp. 656-661

Author(s):

M G Tukhbatullin ◽

K V Yanakova

Keyword(s):

High Risk ◽

Pregnant Women ◽

Chromosomal Abnormality ◽

Chromosomal Abnormalities ◽

Ultrasound Examination ◽

Risk Group ◽

First Trimester ◽

High Risk Group ◽

Control Group ◽

Significant Difference

Aim. To study capabilities of quantitative elastographic study to assess the elasticity of the uterine cervix in women with a fetal chromosomal abnormality in the first trimester of pregnancy.Methods. 230 pregnant women of high-risk group at 11-13.6 weeks of pregnancy (parietal-coccygeal length 45-84 mm) were included in this study. The first group consisted of 213 women without fetal pathology. The second group included 17 women, in whose fetuses different chromosomal abnormalities were detected. In ultrasound examination of pregnant women in the I trimester of pregnancy, in addition to standard methods of examination, quantitative cervical elastography was performed.Results. According to results of quantitative elastography in 14 (82.35%) out of 17 pregnant women (second group) one or another degree of the cervical tissue softening was found, and 3 (17.64%) pregnant women with fetal chromosomal pathology had stiff cervix (all 3 cases with Down syndrome). In the control group in 10 (4.7%) of 213 pregnant women relatively soft cervix was identified, and in 203 (95.3%) women cervical density was higher than the myometrial density. A statistically significant difference between the indices of SWE-Ratio in groups was revealed. Quantitative elastography, as a diagnostic test predicting the risk of miscarriage due to chromosomal abnormalities, has a high sensitivity (84.38%) and even higher specificity (95.26%) of negative predictive value 97.57%.Conclusion. Quantitative elastography reveals a significant decrease in the cervical elasticity (softening) in pregnant women with fetal chromosomal abnormality in the I trimester of pregnancy, which allows us to recommend this method of ultrasound examination as an additional marker for early diagnosis of miscarriage due to fetal chromosomal abnormality.

Download Full-text

Case Report: Prenatal and Postnatal Management for Fetal Bronchogenic Cysts During the COVID-19 Pandemic

Frontiers in Pediatrics ◽

10.3389/fped.2021.675883 ◽

2021 ◽

Vol 9 ◽

Author(s):

Lin Cheng ◽

Jie Duan ◽

Mei Wang ◽

Dan Lu ◽

Huan Li ◽

...

Keyword(s):

Genetic Counseling ◽

Rare Case ◽

Bronchogenic Cyst ◽

Chromosomal Abnormalities ◽

Ultrasound Examination ◽

Fetal Mri ◽

Postnatal Management ◽

Upper Mediastinum ◽

Bronchogenic Cysts

Background: A fetal bronchogenic cyst (BC) is a rare congenital anomaly with an incidence of 0.147–0.238‰. The coronavirus disease 2019 (COVID-19) pandemic, as a particular situation, hindered pregnant women from receiving periodic prenatal checkups.Case Description: Until 34+6 weeks of gestation, a fetal case of the intrathoracic cyst was found by ultrasound examination. Further, MRI examination confirmed the diagnosis of the congenital mediastinal cystic lesion, probably a BC. Genetic testing was not conducted due to the COVID-19 pandemic. At 38+5 weeks of gestation with maternal COVID-19 testing negative, a live girl was delivered by cesarean section. Five months later, the child underwent bronchocystectomy, and the postoperative pathological lesions confirmed a (right upper mediastinum) BC.Conclusion: Herein, we reported the prenatal and postnatal management for a rare case of the congenital BC by multidisciplinary approaches during the COVID-19 pandemic. Fetal MRI and screening for fetal chromosomal abnormalities are especially recommended. This case contributes to the awareness that the COVID-19 pandemic interferes with regular follow-up schedules during pregnancy and may interfere with timely performed additional tests; which leads to more accurate genetic counseling. A combination of multidisciplinary approaches, including radiology, infection control, genetic counseling, obstetrics, and pediatric surgery, is pivotal for managing fetal BC during the COVID-19 pandemic.

Download Full-text

Prenatal ultrasound diagnosis of umbilical artery aneurysm with favorable outcome

10.21516/2413-1458-2018-17-2-146-151 ◽

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.

Download Full-text

Prenatal Tactics Of Ultrasonographic Examination Of The Fetus In Early Pregnancy

European Medical Health and Pharmaceutical Journal ◽

10.12955/emhpj.v4i0.359 ◽

2012 ◽

Vol 4 ◽

Author(s):

Shahnoza Kamalidinova

Keyword(s):

Pregnant Women ◽

Fetal Death ◽

Chromosomal Abnormalities ◽

Ultrasound Examination ◽

First Trimester ◽

Intrauterine Fetal Death ◽

Fetal Ultrasound ◽

Abnormal Pregnancy ◽

First Trimester Of Pregnancy ◽

Fetal Defects

To study defects and chromosomal abnormalities of the fetus, we retrospectively analyzed results of comprehensive dynamic survey of 26,404 pregnant women aged 18-50 years old at 6 to 40 weeks of pregnancy. Of them, 25,956 (98.3%) women had physiological course of pregnancy, 448 (1.7%) women had abnormal pregnancy. For the diagnosis of fetal defects, we carried out ultrasound, biochemical, invasive and cytogenetic studies. The results of study showed that the majority of fetal defects and pathological course of pregnancy was noted in women at the age of 21-25 years old, since at this age period women have the highest number of pregnancies. At the older age, we noted a gradual decrease in the number of pregnant women, as well as the number of abnormalities of the fetus. Based on the analysis of the results obtained, we have developed an algorithm for early fetal ultrasound examination. In order to exclude non-developing pregnancy and intrauterine fetal death, as well as for early diagnosis of fetal defects, we recommend screening women in the first trimester of pregnancy.

Download Full-text

Prenatal Diagnosis of Corpus Callosum Agenesis in Four Fetuses

10.21203/rs.3.rs-51748/v1 ◽

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.

Download Full-text