Chromosome Analysis in Prenatal Diagnosis

TL;DRAbstract

Prenatal diagnosis for chromosome anomalies is an important aspect of preventive medicine. Historically, amniocentesis, a procedure to collect fetal amniotic fluid (AF) by transcervical or transabdominal puncture, has been practiced since the 1930s. It was demonstrated in the mid- 1960s that human amniotic cells can be cultured and used for chromosome analysis and that the optimal timing for amniocentesis was around 16 wk gestation (1,2). Amniocentesis is now common and is usually performed between 14 and 16 wk gestation, although early amniocentesis, around 12 wk gestation, or amniocentesis later than 16 wk are possible depending on the medical needs.

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