This paper demonstrates that the outcome of amniocenteses performed between the 9th and the 14th weeks is similar to that of amniocenteses performed between the 15th and 20th weeks. We have performed and prospectively followed 615 amniocenteses between the 9th and 16th weeks of gestation. The outcome, risks, and complications are similar to those of amniocenteses at the usual time (after 15 weeks) and to the other groups of early amniocentesis (before 15 weeks). Early amniocentesis differs from amniocentesis at the usual time in that it carries higher rates of fetal losses and of amniotic fluid leakage, more confined cytogenetic abnormalities, and an increased number of patients who have the procedure postponed. Two cultures (0.32%) failed to produce results, 595 (96.7%) samples were obtained at the first tapping, 20 (3.3%) at the second attempt. alpha-Fetoprotein levels reach their maximum at 13 weeks. Amniocenteses between 15 and 16 weeks (293, or 47%) constitute the control group, those between 9 and 14 weeks (322) the experimental group. Early amniocentesis appears to be a safe early genetic prenatal diagnosis technique, an alternative to chorionic villi sampling.

A newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31----35). The karyotype designation is 46,XY,dir dup(pter----31::p35----p31::p31----qter). The exact nature of the chromosome anomaly was clarified with use of several banding methods.

The results of the ultrasonographic determination of fetal gender in utero in 722 fetuses (13-35 weeks' gestation) are described, demonstrating that fetal genitalia can be seen in 60.5 per cent of those examined before the eighteenth week, and in 100 per cent of those examined twice or once after 20 weeks of gestation. All errors (3.04 per cent) of gender assignment occurred before the twenty-fourth week. When the fetus was examined for the first time at 17 weeks, the genitalia were visualized and correctly diagnosed in 282 males and 155 females; nine males and 13 females were incorrectly diagnosed. Ultrasonographic determination of fetal gender in utero is an integral part of the prenatal diagnosis of sex maldefinition, testicular feminization, and campomelic dysplasia. It has proved to be a reliable marker in determining whether each sac has been sampled in multiple pregnancies (when each fetus is in a different sac) if ultrasonographically assigned sex per twin corresponds to its karyotype. The determination of fetal gender in utero by ultrasonography allows for gender selection; some of its ethical implications are considered.