pediatrics
Trisomy 13
Diagnosis of Trisomy 13
Cytogenetic testing by karyotyping, fluorescent in situ hybridization (FISH) analysis, and/or chromosomal microarray analysis (See also Genetic Diagnostic Technologies .) Diagnosis of trisomy 13 may be suspected postnatally by appearance or Prenatal Ultrasonography (eg, intrauterine growth restriction), or by increased risk noted on multiple marker screening or Confirmation is by cytogenetic testing (karyotyping, FISH analysis, and/or chromosomal microarray analysis) of samples obtained by Chorionic Villus Sampling or 1.American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine: Screening for fetal chromosomal abnormalities: ACOG Practice Bulletin, Number 226.Obstet Gynecol136(4):e48-e69, 2020. doi: 10.1097/AOG.0000000000004084 