Complementary Approaches in Fetal Genetic Diagnosis: Decision-Making Process and Alternative Choices for Clinicians in a Secondary Health Care Institution

Abstract

Objectives

The aim of this study was to determine indications of invasive, genetic results of conventional karyotyping and chromosomal microarray analysis and culture failure rates to discuss possible solution options and guide our clinical choices.

Materials and methods

Fetal samples were analyzed by conventional karyotyping, array comparative genomic hybridization, fluorescence in situ hybridization.

Results

Failure rates of chorionic villus sampling (CVS) and amniocentesis were as follows, respectively: 4.5% and 0.4%. The rates of abnormal genetic results in fetuses with only thickened nuchal translucency and thickened nuchal translucency + USG abnormality were %4.2 and %40, respectively.

Conclusions

Abnormal genetic results showed a significant increase in cases of thickened nuchal translucency accompanied by USG abnormalities. Although culture failure rates in the CVS were higher, none of the cases remained inconclusive. Centers with prenatal invasive genetic diagnosis should offer a wide spectrum of genetic tests by medical genetics specialists.

Keywords:

• Chromosome abnormality
• aCGH
• prenatal diagnosis
• ultrasound abnormalities
• genetic counseling

Disclosure statement

The authors declare that they have no conflict of interest.

Financial disclosure

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.