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From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.
Matuszewska, Karolina Ewa; Bukowska-Olech, Ewelina; Piechota, Michal; Staniek-Lacna, Katarzyna; Drews, Krzysztof; Wieckowska, Barbara; Koczyk, Grzegorz; Popiel, Delfina; Dawidziuk, Adam; Kochalska, Natalia; Milanowska, Katarzyna; Bialek-Proscinska, Agnieszka; Skrzypczak, Jana; Hirschfeld, Adam Sebastian; Wnuk-Klosinska, Aleksandra; Wisniewska, Marzena; Jamsheer, Aleksander; Latos-Bielenska, Anna.
Afiliación
  • Matuszewska KE; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
  • Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Piechota M; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
  • Staniek-Lacna K; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
  • Drews K; Clinic of Perinatology and Women's Diseases, Poznan University of Medical Sciences, Poznan, Poland.
  • Wieckowska B; Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland.
  • Koczyk G; Institute of Plant Genetics, Polish Academy of Sciences, Biometry and Bioinformatics Team, Poznan, Poland.
  • Popiel D; Research & Development Centre, Preclinical Development Department, Celon Pharma S.A, Kazun Nowy, Poland.
  • Dawidziuk A; Lukasiewicz Research Network, Institute of Organisation and Management in Industry ORGMASZ, Warszawa, Poland.
  • Kochalska N; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
  • Milanowska K; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
  • Bialek-Proscinska A; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
  • Skrzypczak J; Poznan University of Medical Sciences, Reproductive Medicine Clinic, Poznan, Poland.
  • Hirschfeld AS; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
  • Wnuk-Klosinska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Wisniewska M; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
  • Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Latos-Bielenska A; Diagnostyka GENESIS sp. z o.o, Poznan, Poland.
J Matern Fetal Neonatal Med ; 37(1): 2364249, 2024 Dec.
Article en En | MEDLINE | ID: mdl-39069503
ABSTRACT

OBJECTIVE:

To determine the frequency of chromosomal aberrations in chorions after a miscarriage. The second was to examine selected euploid chorions using a next-generation sequencing (NGS) panel designed to assess 43 genes associated with pregnancy loss. MATERIALS AND

METHODS:

The 1244 chorions were tested by targeted quantitative fluorescent PCR (QF-PCR, 827 chorions) and microarray-based comparative genomic hybridization (aCGH, 417 chorions). Then, 9 euploid chorions were examined using a designed NGS panel.

RESULTS:

Trisomies were the most common chromosomal aberration identified in the spontaneous miscarriage samples. The second chromosomal abnormality in the aCGH group and the third most common in the QF-PCR group was monosomy X. Structural aberrations were the third most common aberration in the samples screened by aCGH (7.7% of chorions). In 19% of 647 couples who submitted chorions for analysis after pregnancy loss, the chromosomal abnormality in the chorion originated from a woman with a balanced chromosomal rearrangement. This discovery was statistically significant compared to patients with normal chorions. Using the designed NGS panel, we identified a potentially pathogenic de novo variant in the F5 gene in two euploid chorions. Additionally, among the patients who experienced miscarriages and were screened using the NGS panel, we identified variants in the MDM, ACE, and NLRP2 genes that could be associated with a predisposition to pregnancy loss.

CONCLUSION:

Numerical aberrations are the most common cause of miscarriages, but structural chromosomal aberrations also account for a significant proportion of abnormal results. Our findings indicate that couples with structural chromosomal abnormalities in material post-miscarriage are at increased risk of carrying balanced chromosomal abnormalities. Moreover, NGS-based analyses can uncover previously unidentified causes of miscarriages in the chorionic villi.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aborto Espontáneo / Corion / Aberraciones Cromosómicas Límite: Adult / Female / Humans / Pregnancy Idioma: En Revista: J Matern Fetal Neonatal Med Asunto de la revista: OBSTETRICIA / PERINATOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aborto Espontáneo / Corion / Aberraciones Cromosómicas Límite: Adult / Female / Humans / Pregnancy Idioma: En Revista: J Matern Fetal Neonatal Med Asunto de la revista: OBSTETRICIA / PERINATOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Reino Unido