T he i nc i de n ce o f ma jo r c hr o m os om e abnormalities in newborns isIn amniocentesis, amniotic fluid is withdrawn from the amniotic sac around the fetus. This is currently the most commonly performed invasive prenatal procedure used for diagnosing fetal genetic disorders. The first d i a g n o s i s o f D o w n s y n d r o m e b y m e a n s o f amniocentesis was reported in 1968 by Valenti et al. [1]. Amniocentesis has subsequently become the "gold standard" for invasive prenatal diagnostic tests. The amniotic fluid obtained in the procedure is used for a variety of analyses, the most common of which is a karyotype analysis from cultured amniotic fluid cells. This article reviews the area of prenatal cytogenetic diagnosis through amniocentesis.
Safety of AmniocentesisThe procedure is most commonly performed between 16 and 20 weeks of gestation and is referred to as m id t r i me st e r a mn i oc e nt e s is . U n de r r e a l-t i me ultrasound guidance, a 22-gauge needle is inserted into the amniotic sac and approximately 20 ml of amniotic fluid is removed by aspiration.
S o m e o f t h e c o m p l i c a t i o n s a s s o c i a t e d w i t h amniocentesis include the leakage of fluid, cramping,bleeding, infection, and miscarriage. The risk of miscarriage after amniocentesis is related to the experience of the operator, the size of the needle used, the number of times the needle is inserted, and other factors [2]. Several studies have evaluated the safety of m i d t r i m e s t e r a m n i o c e n t e s i s . A p r o s p e c t i v e , nonrandomized study sponsored by the National Institute of Health found an overall loss rate of 3.5% between the time of the procedure and delivery compared to a loss rate of 3.2% in matched controls [3]. The first prospective randomized study known as "the Danish study" reported that the loss rate for the amniocentesis group was 1.7% compared to 0.7% in controls [4]. In this study, amniocenteses were performed with a 20-gauge needle (compared to a 22-gauge needle in other studies), which may be a factor in the increased loss rate. Most practitioners quote a procedure-related loss rate of 0.5% [5].
Incidence of Chromosome AbnormalitiesCombined surveys during the period 1969 to 1982 involving 68,159 livebirths found that 0.65 percent of newborns had major chromosomal abnormalities (Table 1) [6]. The most common of these were trisomy 21, Down syndrome, with an incidence of 0.12 percent of l i v e b o r n s . T h e n e x t m o s t c o m m o n w e r e s e x chromosome aneuploidies, with one XYY or XXY per