PDF herunterladen
CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2019; 06(02): 81-87
DOI: 10.1007/s40556-019-00207-9
Original Article

Recurrence of Trisomic Pregnancies in Four Families: A Cytogenetic and Molecular Study

Sheela Nampoothiri
1   Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, 682041, Cochin, Kerala, India
,
Abdul Vahab Saadi
2   Manipal School of Life Sciences, Manipal Academy of Higher Education, 576104, Manipal, India
,
Katta M. Girisha
3   Department of Medical Genetics, Kasturba Medical College, Manipal University, 576104, Manipal, India
,
Laxmi Padmanabhan
4   Department of Perinatology, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, 682041, Cochin, India
,
Dhanya Yesodharan
1   Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, 682041, Cochin, Kerala, India
,
M. V. Thampi
5   Department of Human Cytogenetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, 682041, Cochin, India
,
Zareena Hamza
5   Department of Human Cytogenetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, 682041, Cochin, India
,
Kapaettu Satyamoorthy
2   Manipal School of Life Sciences, Manipal Academy of Higher Education, 576104, Manipal, India
› Institutsangaben
› Weitere Informationen
Auch verfügbar auf
  als PDF herunterladen Lizenzen und Reprints

Abstract

The risk for recurrence of non disjunction trisomy 21 is conventionally considered to be less than 1%. Within a span of 3 years, we observed recurrence of non disjunction trisomies in four families. The objective of the present study was to determine low level mosaicism in either of the couple and to identify the parental origin of additional chromosome 21/18. The four couples who had recurrent trisomic conceptions were investigated for the underlying mosaicism by analysis of 100 cells from peripheral blood of the couple and the parental origin of supernumerary chromosome 21/18 were identified using microsatellite markers. Low level mosaicisms in peripheral lymphocytes of couple were ruled out for all four families. Microsatellite markers have shown maternal origin of chromosomal nondisjunction for all the families and defective first meiotic division as the most common mechanism for nondisjunction. This observation raises the need for discussing the option of invasive testing while counseling the couple with an affected child with non-disjunction trisomy as the risk for recurrence of trisomies in subsequent pregnancy might not be as low as 1%.

Keywords

Nondisjunction - Trisomy 21 - Trisomy 18 - Recurrence - Meiosis I - Meiosis II


Publikationsverlauf

Eingereicht: 30. April 2019

Angenommen: 06. Juni 2019

Artikel online veröffentlicht:
08. Mai 2023

© 2019. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India