Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling

Berghella, Vincenzo; Wapner, Ronald J.; Yang‐Feng, Teresa L.; Mahoney, Maurice J.

doi:10.1002/(sici)1097-0223(199804)18:4<384::aid-pd263>3.0.co;2-4

Cited by 27 publications

(6 citation statements)

References 45 publications

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“…Unspecified abnormal findings were reported in a male fetus who unfortunately experienced intrauterine death at 33 weeks [ 1 ], while in another fetus from the same case series, hydrothorax was reported [ 1 ], and it was associated with increased nuchal fold. Berghella and colleagues described a fetus with mT22 and the presence of a choroid plexus cyst [ 19 ], which is known in literature to correlate with genetic syndromes in some cases [ 36 ]. Another soft marker for aneuploidies, the single umbilical artery, was described in one case by Abdelgadir and colleagues [ 7 ].…”

Section: Resultsmentioning

confidence: 99%

“…Among the various dysmorphisms reported, only those cited in >10% were considered distinctive and therefore mentioned. The most frequent organ involved is the ear, with four prenatal cases of low-set ears described in post-mortem reports [ 19 , 22 , 23 , 37 ], with or without external ear anomalies, such as a crumpled helix [ 37 ]. In the postnatal cohort, ears were low-set in 11 cases out of 25, often accompanied by anomalies (10/25) and almost constantly associated with pre-auricolar tags or pits (14/23).…”

Section: Resultsmentioning

confidence: 99%

“…Eyes were characterized by hypertelorism (10/25), epicanthal folds (9/25), and unilateral or bilateral ptosis (6/25). Hypertelorism was also described in four prenatal cases [ 19 , 21 , 22 , 23 , 31 , 37 ]. A broad flattened nasal bridge (9/25) with a long smooth philtrum (5/25) and anteverted nostrils (5/25) was distinctive.…”

Section: Resultsmentioning

confidence: 99%

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Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Trevisan,

Meroni,

Leoni

et al. 2024

Genes

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Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. Problem: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Trevisan,

Meroni,

Leoni

et al. 2024

Genes

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“…Previous reports have described that karyotype on peripheral lymphocytes can often be negative and a karyotype on an affected tissue or skin fibroblasts is required [6]. This concept has to be taken into consideration while dealing with cases with doubtful mosaicism due to features such as hemi-hyperplasia.…”

Section: Discussionmentioning

confidence: 99%

“…The karyotype of the fetal cells was mos47, ? 22 [6]/46 [8]. Forty-three percent cells had trisomy 22 and 57% cells had a normal karyotype (Fig.…”

Section: Case Reportmentioning

confidence: 94%

Antenatal Detection of Mosaic Trisomy 22 with a Finding of Blake’s Pouch Cyst

Gholkar

Singh

Kaul

2018

Journal of Fetal Medicine

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The authors report a case of mosaic trisomy 22 diagnosed antenatally by amniocentesis at 19 weeks. The ultrasound finding was an isolated posterior fossa fluid collection in the brain with features possibly suggestive of a Blake’s Pouch cyst with doubtful hypoplasia of cerebellar vermis. The karyotype of the amniocytes was mos47, + 22[6]/46[8] with two separate clones of cells. Trisomy 22 was seen in one clone (43%) while the other clone (57%) had a normal karyotype. On postnatal examination after termination, there were no dysmorphic features. A selective autopsy of the fetal brain was suggestive of normal posterior fossa anatomy with normal cerebellar vermis which retrospectively confirmed the diagnosis of a Blake’s pouch cyst.

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Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax

et al. 1999

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We report the first case of mosaic trisomy 21 with non‐immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro‐amniotic shunt, was performed. A clinical phenotype of Down syndrome was apparent after the gross oedema had subsided. Subsequent chromosome study of neonatal blood lymphocytes showed mosaic trisomy 21 with 23 per cent trisomic cells. Review of the initial fetal blood sample identified trisomy in 5 per cent of 134 cells. Follow‐up study at five months showed no trisomy 21 in 100 cells. This case illustrates the variable levels of mosaicism manifest in the peripheral blood of an infant with obvious Down syndrome phenotype, and the limitation of cytogenetic analysis of peripheral lymphocytes alone in prenatal and postnatal detection of low levels of mosaicism. Copyright © 1999 John Wiley & Sons, Ltd.

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Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling

Cited by 27 publications

References 45 publications

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Antenatal Detection of Mosaic Trisomy 22 with a Finding of Blake’s Pouch Cyst

Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax

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