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Objective: To develop recommendations for prenatal diagnosis of congenital cytomegalovirus (CMV) infection and evaluate possible prognostic markers., Methods: We studied 237 pregnant women who had suspected or confirmed primary CMV infections by amniocenteses with or without funipuncture. Diagnosis of CMV was based on culture and polymerase chain reaction (PCR) done on amniotic fluid (AF) samples; fetal blood tests for CMV immunoglobulin M antibodies, PCR, and nonspecific biologic markers; and repeated ultrasound examinations. In cases of pregnancy termination, viral and pathologic examinations of fetuses were done. At birth, CMV infections were sought in newborns. Pediatric follow-up was scheduled for at least 2 years., Results: Of 210 fetuses and newborns correctly evaluated, 55 had CMV infections. Ten of 38 fetuses infected before 20 weeks' pregnancy had severe congenital disease. The global sensitivity of prenatal diagnosis was 80%. Best sensitivity and 100% specificity were achieved by PCR done on AF sampled after 21 weeks' gestation, respecting a mean interval of 7 weeks between diagnosis of maternal infection and prenatal diagnosis. Fetal thrombocytopenia was associated with severe fetal disease. Ultrasound follow-up missed two fetuses who presented with neurologic impairment due to CMV after birth., Conclusion: A reliable prenatal diagnosis of congenital CMV infection based on PCR on amniocentesis samples can be made after 21 weeks' pregnancy, after a 7-week interval between diagnosis of maternal infection and antenatal procedure. Ultrasound and nonspecific biologic parameters are not sufficient to identify all fetuses at risk of severe sequelae.

Objective: To assess the efficacy and safety of diagnostic funipuncture., Methods: Between October 1985 and November 1993, fetal circulation was accessed 891 times in 828 pregnancies. The technique was similar to that described in earlier studies. We did not make more than two attempts at the procedure in any session. Each procedure was recorded prospectively in a computerized data base. Data included information about indications, laboratory indices, gestational age, number of successful and failed punctures, duration of fetal bradycardia, duration of bleeding, ultrasonographic findings, follow-up of pregnancies, and perinatal outcome., Results: The most frequent indication was rapid karyotyping (48.9%), followed by risk of congenital infection (38.6%). The success rate of the method was high (98.6%). Most samples (97%) were pure fetal blood, undiluted by amniotic fluid. Transient bleeding was observed from the cord puncture site in 9.8% of the procedures. Sixty-three percent of prolonged bradycardia occurred in growth-retarded or congenitally malformed fetuses. Seven fetal and neonatal deaths (five pregnancies) occurred within 1 week after the funipuncture; the funipuncture indication was rapid karyotyping in four of these cases., Conclusion: Funipuncture performed by operators trained in ultrasonic needle guidance is a safe and reliable procedure.

Objective: To determine the feasibility of prenatal diagnosis of fetal cytomegalovirus (CMV) infection., Methods: Fifty-two pregnant women were investigated in our unit between October 1985 and July 1992. The diagnostic procedures included ultrasound examination, amniocentesis, and fetal blood sampling. Specific tests for CMV infection included specific immunoglobulin (Ig) M antibodies, viral culture, and amplification of CMV DNA by polymerase chain reaction. Nonspecific tests included white blood cell count, hemoglobin, hematocrit, platelets, and gamma-glutamyl transferase determination., Results: The combination of tests allowed an antenatal diagnosis of CMV in 13 of the 16 infected fetuses (sensitivity 81%). Amniocentesis allowed the diagnosis in 12 of the 13 antenatally diagnosed cases. The sensitivity of CMV IgM antibody detection in fetal blood was 69%. The culture of fetal blood was never positive. Thrombocytopenia was present in six cases, and ultrasound was abnormal in five., Conclusions: Amniotic fluid is the best sample to diagnose CMV infection, and fetal blood sampling and sonography are important to assess the fetal condition. Our experience underscores the importance of repetitive sampling.

Placental and endometrial partial pressures of oxygen (PO2) were measured using a polarographic oxygen electrode during the first trimester of pregnancy. Between 8-10 weeks' gestation, placental PO2 levels were significantly lower (P less than .001) than endometrial levels. A significant (P less than .001) increase was observed for placental PO2 values measured at 12-13 weeks compared with those obtained at 8-10 weeks. We suggest that the increase of placental PO2 at the end of the first trimester is related to the establishment of continuous maternal blood flow in the intervillous space.

The pathologic findings in placentas from ten multiple gestations complicated by the so-called vanishing twin phenomenon were studied to confirm the ultrasonographic evidence. Five pregnancies resulted from in vitro fertilization and embryo transfer, and five conceptions were spontaneous. The pregnancies were studied by repeat ultrasound examinations between five and 12 weeks' gestation. First-trimester bleeding was the only clinical sign of this phenomenon. Postpartum evidence of the vanishing twin phenomenon was found in five cases. Morphologically, the lesions were characterized by well-delineated plaques of perivillous fibrin deposition, associated in one case with embryonic remnants. This focal degenerative change of the placental mass, which also exists in about 25% of placentas from uncomplicated term pregnancies, may be the only clue to the disappearance of one conceptus.

Percutaneous umbilical blood sampling (cordocentesis) appears to be a valuable new procedure for prenatal diagnosis. In order to evaluate whether focal injury of the umbilical vessels caused by the needle puncture is potentially harmful, we completely examined 50 umbilical cords collected between 1 hour and 20 weeks after cordocentesis. Macroscopic evidence of the needle entry was found in 37 cases, including one giant hematoma of the cord. Within 48 hours after the procedure, microscopic examination of transverse sections taken at the puncture site revealed distinct perforation of the vessel wall, associated in four cases with a small hematoma encircling the vessel. One week after cordocentesis, the vessel wall was partially reformed. There were no histologic differences between needle entry in a vein or in an artery. No thromboses of the umbilical vessels were found.