First trimester detection of double aneuploidy involving autosomes and sex chromosomes using combined biochemical and ultrasound screening

Spencer, Kevin

doi:10.1002/pd.4192

Cited by 5 publications

(3 citation statements)

References 10 publications

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“…Corresponding histological examination of the placenta or chorionic villi is seldom performed. 7 Therefore, there is limited literature correlating specific placental histomorphology with chromosomal abnormality. 8 In clinical settings where fetal malformations are absent or missed in radiology, placental morphology can potentially help in favoring or ruling out cytogenetic abnormalities.…”

Section: Discussionmentioning

confidence: 99%

An insight into the placental morphology in a case of Edwards syndrome

Maheshwari,

Sharma,

Zaheer

et al. 2023

Int J Reprod Contracept Obstet Gynecol

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Certain histomorphological features of the placenta can suggest, although not diagnose, the presence of abnormal karyotype in cases of chromosomal anomalies in the fetus. However, data correlating placental histology and abnormal fetal karyotype is scarce. Here, in this article, we wanted to enlighten the readers about the importance of the placental morphology in chromosomal aberrations by presenting a case of a 22-year-old primigravida who at 8 weeks of gestation had a regular prenatal check-up. Over a period of time, the ultrasound study at 21 weeks of gestation revealed a single live intrauterine fetus in a breech position with polyhydramnios, strawberry-shaped skull, and other features. Amniocentesis revealed that the fetus was having Edwards syndrome (trisomy 18). The placental examination showed areas of sclerosis and congestion with a single umbilical artery.

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Section: Discussionmentioning

confidence: 99%

An insight into the placental morphology in a case of Edwards syndrome

Maheshwari,

Sharma,

Zaheer

et al. 2023

Int J Reprod Contracept Obstet Gynecol

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“…First trimester evaluation for chromosomal abnormalities includes a combination of biochemical and ultrasound screening [ 1 ]. Chromosomal studies are frequently performed in early spontaneous abortions, without corresponding histological examination.…”

Section: Introductionmentioning

confidence: 99%

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

Shah

Dyer

Stanek

2018

Case Reports in Pathology

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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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“…For example, double aneuploidy has been documented only in a small proportion (< 3%) of spontaneous abortion cases in whom cytogenetic studies were conducted [Diego‐Alvarez et al, ; Korucuoglu et al, ]. Cases of double trisomies can be observed in liveborns (albeit less frequently) with variable resulting phenotypes, suggesting that the lethality of the abnormality depends on which chromosomes are involved [Spencer, ].…”

Section: Introductionmentioning

confidence: 99%

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses

Zárate

Bosanko

Bhoj

et al. 2015

American J of Med Genetics Pt A

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The coexistence of two or more distinct genetic conditions is known to be a rare phenomenon. Full chromosome aneuploidies can be associated with a broad variety of cytogenetic abnormalities or single gene disorders resulting in phenotypic modifications that confuse the diagnostic process. We present six patients with primary aneuploidies and a suspected or confirmed secondary genetic diagnosis or unusual birth defect. Among the cases included, we report the first patients with concurrent Down syndrome in combination with Prader-Willi, Craniofacial Microsomia, and Stickler syndromes. We also describe only the second reported case of a neonate with Down syndrome and Marfan syndrome. In all cases, the unusual clinical presentations lead to further molecular cytogenetic studies as well as single or multi-gene molecular evaluations. We make emphasis on the importance of entertaining the possibility of coexistent diagnoses when the phenotype is not what is expected for aneuploidies rather than attributing the unusual findings to rare or unreported associations of the primary aneuploidy.

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First trimester detection of double aneuploidy involving autosomes and sex chromosomes using combined biochemical and ultrasound screening

Cited by 5 publications

References 10 publications

An insight into the placental morphology in a case of Edwards syndrome

An insight into the placental morphology in a case of Edwards syndrome

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

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses

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