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10.3390/life13010020
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Article

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

by
Margherita Vinciguerra
1,*,
Filippo Leto
1,
Filippo Cassarà
1,
Viviana Tartaglia
1,
Michela Malacarne
2,
Domenico Coviello
2,
Valentina Cigna
3,
Emanuela Orlandi
3,
Francesco Picciotto
3,
Gaspare Cucinella
3,
Emanuela Salzano
4,
Maria Piccione
4,
Aurelio Maggio
5 and
Antonino Giambona
1,*
1
Unit of Molecular Diagnosis of Rare Hematological Diseases, Azienda Ospedaliera Ospedali Riuniti Villa Sofia-Cervello, 90146 Palermo, Italy
2
Laboratory of Human Genetics, Istituto Giannina Gaslini, 16147 Genoa, Italy
3
Unit of Fetal Medicine and Prenatal Diagnosis, Azienda Ospedaliera Ospedali Riuniti Villa Sofia-Cervello, 90146 Palermo, Italy
4
Medical Genetics Unit, Azienda Ospedaliera Ospedali Riuniti Villa Sofia Cervello, 90146 Palermo, Italy
5
Unit of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Azienda Ospedaliera Ospedali Riuniti Villa Sofia-Cervello, 90146 Palermo, Italy
*
Authors to whom correspondence should be addressed.
Life 2023, 13(1), 20; https://doi.org/10.3390/life13010020
Submission received: 11 October 2022 / Revised: 18 November 2022 / Accepted: 16 December 2022 / Published: 21 December 2022
(This article belongs to the Special Issue Prenatal Diagnosis and Fetal Therapy)
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Abstract

Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. Results: A monoallelic pattern of all Short Tandem Repeats mapped on the X chromosome was found and array-CGH performed on WGA from a few fetal erythroblasts confirmed monosomy X. Conclusion: This report underlines the importance of an early prenatal diagnosis and the countless potentialities of array-CGH that could make definition of molecular karyotype possible from a few fetal cells, unlike conventional cytogenetic techniques that require a greater cellular content. This is the first report of a molecular karyotype obtained from two cells selected by micromanipulation of CF and defined at such an early gestational age.
Keywords: prenatal diagnosis; array comparative genomic hybridization; coelocentesis; monosomy X; beta thalassemia prenatal diagnosis; array comparative genomic hybridization; coelocentesis; monosomy X; beta thalassemia

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MDPI and ACS Style

Vinciguerra, M.; Leto, F.; Cassarà, F.; Tartaglia, V.; Malacarne, M.; Coviello, D.; Cigna, V.; Orlandi, E.; Picciotto, F.; Cucinella, G.; et al. Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid. Life 2023, 13, 20. https://doi.org/10.3390/life13010020

AMA Style

Vinciguerra M, Leto F, Cassarà F, Tartaglia V, Malacarne M, Coviello D, Cigna V, Orlandi E, Picciotto F, Cucinella G, et al. Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid. Life. 2023; 13(1):20. https://doi.org/10.3390/life13010020

Chicago/Turabian Style

Vinciguerra, Margherita, Filippo Leto, Filippo Cassarà, Viviana Tartaglia, Michela Malacarne, Domenico Coviello, Valentina Cigna, Emanuela Orlandi, Francesco Picciotto, Gaspare Cucinella, and et al. 2023. "Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid" Life 13, no. 1: 20. https://doi.org/10.3390/life13010020

APA Style

Vinciguerra, M., Leto, F., Cassarà, F., Tartaglia, V., Malacarne, M., Coviello, D., Cigna, V., Orlandi, E., Picciotto, F., Cucinella, G., Salzano, E., Piccione, M., Maggio, A., & Giambona, A. (2023). Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid. Life, 13(1), 20. https://doi.org/10.3390/life13010020

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