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Genetic analysis of 21 fetuses with high suspicion of congenital skeletal malformation by prenatal ultrasound / 中华围产医学杂志
Chinese Journal of Perinatal Medicine ; (12): 28-34, 2022.
Article in Chinese | WPRIM | ID: wpr-933877
ABSTRACT

Objective:

To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.

Methods:

This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.

Results:

A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene).

Conclusions:

For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.

Full text: Available Index: WPRIM (Western Pacific) Type of study: Observational study Language: Chinese Journal: Chinese Journal of Perinatal Medicine Year: 2022 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Observational study Language: Chinese Journal: Chinese Journal of Perinatal Medicine Year: 2022 Type: Article