Prenatal testing offered by the UMass Memorial Medical Center Cytogenetics Laboratory consists of chromosome analysis and Fluorescence In Situ Hybridization (FISH) on amniotic fluid samples. Available FISH testing includes rapid aneuploidy FISH (for chromosomes 13, 18, 21, X, and Y) as well as metaphase FISH for a number of microdeletion syndromes (full list available via the FISH Probe Catalog link). Appropriate indications for prenatal testing include advanced maternal age, abnormal serum screen results, and abnormal fetal ultrasound. Chromosome analysis (and sometimes aneuploidy FISH) may also be performed on samples of products of conception (POC) to confirm or rule out a chromosomal etiology for a pregnancy loss or fetal demise.
Constitutional chromosome analysis is available on peripheral blood samples to confirm or rule out a chromosomal etiology for many conditions, including recurrent miscarriages, pubertal delay, premature ovarian failure, developmental delay, mental retardation, and multiple malformations. For patients with features consistent with a microdeletion syndrome, metaphase FISH may also be performed (see FISH Probe Catalog).
Genomic microarray may also be performed on peripheral blood samples for patients with a primary diagnosis of autism, developmental delay, or mental retardation, or on patients with multiple malformations who have had a normal karyotype previously performed. All abnormal microarray results (with the exception of duplications < 500 kb in size) are confirmed via FISH using custom probes from BlueGnome. These probes also allow familial studies to be performed for at-risk relatives of patients with known microarray abnormalities.