Single-operator comparison of early and mid-second-trimester amniocentesis.

We sought to determine whether early amniocentesis is a safe and acceptable method of genetic evaluation in early pregnancy. During the 54-month period from September 1986 to February 1991, 300 consecutive early second-trimester amniocenteses were performed transabdominally at 13-14 weeks' gestation and 567 consecutive mid-second-trimester transabdominal amniocenteses were performed at 16-18 weeks. Group assignment was nonrandomized, interoperator-dependent variables were eliminated, and analysis was performed in one cytogenetics laboratory.

Prenatal diagnosis of Turner syndrome using cells cultured from cystic hygromas in two pregnancies with normal maternal serum alpha-fetoprotein.

In two cases of prenatally detected cystic hygroma with oligohydramnios, successful cytogenetic diagnosis of Turner syndrome was achieved using cells obtained from direct aspiration of the cystic hygroma. Exceptionally high levels of alpha-fetoprotein were found in the cystic hygroma fluid, as might be expected. However, the maternal serum alpha-fetoprotein levels were within normal limits.

The prenatal diagnosis of the Walker-Warburg syndrome.

On the basis of physical features and autopsy findings, a child with congenital hydrocephalus, bilateral microphthalmia, myopathy, severe developmental retardation and multiple brain malformations was diagnosed to have the Walker-Warburg Syndrome (WWS). During a subsequent pregnancy in this family, a fetus at risk for this autosomal recessive condition was evaluated with serial ultrasound examinations. At 15 weeks of gestation an encephalocele was noted.

Ultrasonographic antenatal diagnosis: will it change the spectrum of neonatal surgery?

The outcome of 139 fetuses with anatomical abnormalities diagnosed by ultrasonography (out of 15,180 examinations) at our institution during the last 6 years was reviewed. Of these, 56 were diagnosed before 21 weeks gestational age and 83 thereafter. Fifty-four had anomalies of the central nervous system.

A perinatal approach to the diagnosis and management of gastrointestinal malformations.

Ultrasonography now offers the opportunity to evaluate selected high-risk pregnancies for the presence of fetal malformations that are amenable to corrective measures as well as of those that remain incompatible with life. The authors observed major fetal malformations in 1% of 6050 cases that underwent antenatal ultrasonographic evaluation. A series of 9 prenatally diagnosed gastrointestinal tract anomalies, including the first documented instances of esophageal atresia diagnosed in utero, is presented in detail.