pediatrics
Trisomy 18
Diagnosis of Trisomy 18
Prenatal chorionic villus sampling and/or amniocentesis with cytogenetic testing by karyotype analysis, fluorescent in situ hybridization (FISH), and/or chromosomal microarray analysis (CMA) (See also Genetic Diagnostic Technologies .) Diagnosis of trisomy 18 may be suspected postnatally by appearance, or Screening (eg, with abnormalities of extremities and fetal growth restriction), or by multiple marker screening or Confirmation prenatally is by cytogenetic testing (karyotyping, FISH analysis, and/or chromosomal microarray analysis ) of samples obtained by Amniocentesis 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 