Gross morphologic appearance of chorionic villi and the risk of chromosomal abnormalities

Abstract Objective To determine the best method for chromosome detection of mosaicism by comparing the results of karyotype and SNP-array in amniotic fluid,chorionic villi and cord blood. Methods A total of 14,805 pregnant women underwent invasive prenatal diagnosis.SNP-array and karyotype analysis were used to detect chromosomal abnormalities. Results A total of 169 cases of mosaicism were detected in this study.Mosaicism was found in both karyotype and SNP-array in 99(0.66%,99/14,805) cases of prenatal samples. In the remaining 70 cases of mosaicism, the results of karyotype and SNP-array were discrepant with ten cases(1.04%,10/959),forty-five cases (0.5%,45/9034) and fifteen cases(0.31%,15/4812) dectected from CV,AF and CB respectively. The mosaic positive rate of karyotype analysis only was 1.11%(164/14,805), which was significantly higher than that of SNP-array (0.7%,104/14,805), and the difference was statistically significant (P < 0.001). The mosaic positive rate of combination with SNP-array and karyotype was 1.14%(169/14,805), which was higher than that of SNP-array(0.7%). Conclusions This study demonstrated that the combination of SNP-array and karyotype analysis may be the best strategy for the prenatal diagnosis of mosaicism aneuploidy.These two techniques have their own advantages and disadvantages, which can complement each other in clinical application.

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Analysis of clinikal and morphological features of missed abortions, associated with chromosomal abnormalities of the chorion

Vestnik of Russian military medical Academy ◽

10.17816/brmma25911 ◽

2019 ◽

Vol 21 (2) ◽

pp. 13-17

Author(s):

O A Romanova ◽

V A Pechenikova ◽

T S Kartashova ◽

A S Klyukovkina ◽

V N Ellinidi

Keyword(s):

Early Pregnancy ◽

Chromosomal Abnormality ◽

Trisomy 21 ◽

Chromosomal Abnormalities ◽

Recurrent Miscarriage ◽

Trisomy 13 ◽

Missed Abortion ◽

Chorionic Villi ◽

Trisomy 16 ◽

Saint Petersburg

Nowadays the problem of recurrent miscarriage is relevant. 17-20% of all registered pregnancies end with inevitable miscarriages. 80% of them are early pregnancies and in most cases represent missed abortions. Besides, one of the leading cause of missed abortion are chromosomal abnormalities. Analyzed the clinical and anamnestic data of patients, diagnosed with missed abortion during early pregnancy, examined in Saint-Petersburg in 2005-2006 and 2015-2017: patients with normal chorion karyotype and patients with chromosomal abnormalities of the chorion. Revealed that the prevailing chromosomal abnormality is aneuploidy, among all types of aneuploidy the most frequently are trisomy 16, trisomy 13, trisomy 22 and trisomy 21. The structure of aneuploidy has changed in 10-11 years. Now, in comparison with 2005-2006, at missed abortion the trisomy 16 in chorionic villi is found 3.8 times more often, the trisomy 13 is found 2.8 times more often and the trisomy 22 is found twice less often (p

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Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18

Case Reports in Pathology ◽

10.1155/2018/2839765 ◽

2018 ◽

Vol 2018 ◽

pp. 1-5

Author(s):

Sujal I. Shah ◽

Lisa Dyer ◽

Jerzy Stanek

Keyword(s):

Chromosomal Abnormalities ◽

Placental Tissue ◽

Thymic Tissue ◽

Fetal Demise ◽

Female Fetus ◽

Chorionic Villi ◽

Chorionic Plate ◽

Chorion Laeve ◽

Double Trisomy ◽

The Right

Background. Approximately 50% of early spontaneous abortions are found to have chromosomal abnormalities. In these cases, certain histopathologic abnormalities are suggestive of, although not diagnostic for, the presence of chromosomal abnormalities. However, placental histomorphology in cases of complex chromosomal abnormalities, including double trisomies, is virtually unknown. Case Report. We present the case of a 27-year-old G3P22002 female presenting at 19 weeks and 1 day of gestation by last menstrual period for scheduled prenatal visit. Ultrasound revealed a single fetus without heart tones and adequate amniotic fluid. Limited fetal measurements were consistent with estimated gestational age of 17 weeks. Labor was induced with misoprostol due to fetal demise. Autopsy revealed an immature female fetus with grade 1-2 maceration. The ears were low-set and posteriorly rotated. The fingers were short bilaterally, and the right foot showed absence of the second and third digits. Evaluation of the organs showed predominantly marked autolysis consistent with retained stillbirth. Placental examination revealed multiple findings, including focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve, which have not been previously reported in cases of chromosomal abnormalities. Karyotype of placental tissue revealed a 48,XXX,+18 karyotype and the same double trisomy of fetal thymic tissue by FISH. Conclusion. In addition to convoluted outlines of chorionic villi, villous trophoblastic pseudoinclusions, and clusters of villous cytotrophoblasts, the previously unreported focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve were observed in this double trisomy case. More cases have to be examined to show if the histology is specific for this double trisomy.

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Additional chromosomal abnormalities in patients with acute promyelocytic leukaemia (APL) do not confer poor prognosis: results of APL 93 trial

British Journal of Haematology ◽

10.1046/j.1365-2141.2000.02442.x ◽

2000 ◽

Vol 111 (3) ◽

pp. 801-806 ◽

Cited By ~ 44

Author(s):

Stephane de Botton ◽

Sylvie Chevret ◽

Miguel Sanz ◽

Herve Dombret ◽

Xavier Thomas ◽

...

Keyword(s):

Acute Promyelocytic Leukaemia ◽

Poor Prognosis ◽

Chromosomal Abnormalities ◽

Promyelocytic Leukaemia ◽

Additional Chromosomal Abnormalities

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Ultrasound of Chromosomal Abnormalities

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/s-2008-1080829 ◽

2008 ◽

Vol 29 (S 2) ◽

Author(s):

S Gilani ◽

N Fazal ◽

TA Abbasi

Keyword(s):

Chromosomal Abnormalities

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SIGNIFICANCE OF PLACENTAL HISTOPATHOLOGICAL FINDINGS IN PRETERM/TERM BIRTH

International Journal of Medical and Biomedical Studies ◽

10.32553/ijmbs.v4i5.1143 ◽

2020 ◽

Vol 4 (5) ◽

Author(s):

Monika Kushwaha ◽

Sanjeev Narang

Keyword(s):

Preterm Birth ◽

Comparative Study ◽

Pregnancy Outcome ◽

Neonatal Morbidity ◽

Research Centre ◽

College Hospital ◽

Cross Sectional ◽

Chorionic Villi ◽

Term Birth ◽

Medical College

Background: This study is cross-sectional, observational and comparative study, at Index Medical College, Hospital & Research Centre, Indore, Madhya Pradesh from July 2017 to July 2019 with sample size 100 placentae. Method: The placenta received was evaluated blinded of maternal pregnancy outcome. The pattern of morphology was evaluated both qualitatively (type of lesion) and quantitatively (number of lesions). Result: In Present study 79% of the deliveries were term deliveries and 21% were preterm deliveries. On placental macroscopy, placenta weight was significantly low among the neonates of preterm deliveries (370.00±60.49) as compared to term deliveries (440.89±55.22). Preterm placenta had higher number of abnormal placental lesion compared to term pregnancies. Conclusion: The uteroplacental insufficiency defined as placental infarct, fibrosis of chorionic villi, thickening of blood vessels, and poor vascularity of chorionic villi. Placental histopathological lesions are strongly associated with maternal under perfusion and uteroplacental insufficiency. These are the reasons for preterm birth. Thus, knowledge of the etiological factor can be use to reduce maternal and neonatal morbidity and mortility. Keywords: Placenta, Term & Preterm.

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