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Rare Disease Forum by Genetidoc Genetic Clinic › Forums › Genetics in Pregnancy and Fertility › Fetal Growth Restriction › Can genetic testing help identify cause of Fetal Growth Restriction, and when sh
Can genetic testing help identify the cause of Fetal Growth Restriction, and when should it be considered?
Yes, genetic testing can be valuable in a subset of Fetal Growth Restriction cases, particularly when growth restriction is severe, begins early in pregnancy, or is accompanied by structural anomalies detected on ultrasound. Chromosomal abnormalities such as Trisomy 18, Trisomy 13, and Triploidy are well recognized causes of early-onset, severe growth restriction, and chromosomal microarray analysis performed on amniotic fluid or chorionic villus sampling can detect these as well as smaller genetic deletions or duplications that a standard karyotype might miss. Single gene disorders and certain imprinting conditions, such as Silver-Russell syndrome, should also be considered when growth restriction is asymmetric, disproportionate, or associated with distinctive physical features after birth. Genetic testing is generally not the first step in isolated, late-onset growth restriction with a clear placental explanation, but should be discussed with the couple when the clinical picture is atypical, when there is a family history of genetic conditions, or when the couple wants clarity for future pregnancy planning. Genetic counseling before and after testing helps the couple understand what a result would and would not change about pregnancy management.