Cytomegalovirus fetal infection: prenatal diagnosis.

We report the results of prenatal diagnosis in 15 cases of primary cytomegalovirus infection during pregnancy. Sixteen fetuses (one twin pregnancy) were examined by ultrasonography, amniocentesis, and fetal blood sampling. Prenatal diagnosis was positive in eight cases as evidenced by positive amniotic fluid cultures in eight, positive immunoglobulin M (IgM) in six, and abnormal ultrasound in two. Among infected fetuses, abnormal laboratory findings included anemia, thrombocytopenia, and elevated liver function tests. Three pregnancies were terminated because of ultrasound abnormality or abnormal laboratory indices. In cases of fetal infection with normal ultrasound and normal laboratory findings, the pregnancies were allowed to proceed, leading to the birth of four infants (three with subclinical infections, one with bilateral hearing loss). The relation between anemia, thrombocytopenia, altered liver function tests, and subsequent handicap remains unknown, but the abnormalities observed in utero correspond to those described at birth in cases of cytomegalic inclusion disease. Amniocentesis alone allowed the diagnosis of infection in all cases, but fetal blood sampling provided additional information about the fetal condition.

Prenatal diagnosis of urinary malformations: results in a series of 93 consecutive cases.

OBJECTIVE: To evaluate the pertinence of prenatal diagnosis in cases of congenital uropathy. STUDY DESIGN: Retrospective evaluation over a period of 6.5 years. METHOD: 93 cases were involved in the comparison of prenatal ultrasonographic diagnosis with neonatal findings, autopsy results, and follow-up data. RESULTS: 33 fetuses had renal parenchymal lesions, 44 had excretory system lesions, and 6 had bladder and/or urethral lesions. Seventy-three pregnancies lead to live births. Eighteen terminations of pregnancy were performed on the parents' request for extremely severe malformations. Two intrauterine deaths were observed, and two infants died in the postnatal period. Prenatal diagnosis was obtained at an average of 27 weeks gestation. Diagnostic concordance was excellent in 82% and partial in 12% of cases with renal parenchymal lesions; the false-positive rate was 6%. For excretory system lesions, concordance was excellent in 87% and partial in 7.4% of cases, with a false-positive rate of 5.6%. Finally, concordance was excellent in 100% of cases of bladder and/or urethral lesions. The overall rate of total concordance was 86%. Partial concordance cases consisted of malformations different from those previously diagnosed, but prenatal diagnosis nevertheless lead to further investigations in the neonatal period and to proper management. The false-positive diagnoses (5.4%) never lead to termination of pregnancy. CONCLUSION: Prenatal diagnosis of congenital uropathy is effective. A third-trimester ultrasonographic examination is necessary to ensure proper neonatal management, considering that the majority of cases are diagnosed at this gestational age.

[Ultrasonic diagnosis of a hereditary multiple malformation syndrome: Meckel-Gruber syndrome or Carpenter-Hunter syndrome]. / Diagnostic échographique d'un syndrome polymalformatif héréditaire: syndrome de Meckel-Grüber ou syndrome de Carpenter-Hunter.

Concerned by 2 cases of a recurring multiple fetal malformation syndrome in a consanguineous couple, the authors present the ultrasonic, clinical and paraclinical data that, when introduced into a computerised prenatal diagnostic programme, suggest a Meckel-Gruber or Carpenter-Hunter syndrome. The discovery of single or multiple fetal malformations requires not only complete echographic assessment, but also detailed post-abortum examination to allow optimal use of diagnostic aid programmes.

[Thoracopagus fetus. Ultrasonic diagnosis at 16 weeks]. / Foetus thoracopages. Diagnostic échographique à 16 semaines.

This paper reports the ultrasound diagnosis at 16 weeks' gestation of thoracopagus conjoined twins. Ultrasound examination showed the two fetuses conjoined at the sternum, with a single heart and a single liver. After informing the couple of the extremely poor prognosis, medical termination of pregnancy was requested. Pathologic examination of the conjoined female fetuses revealed a single, non-duplicated heart, two livers connected at the right lobe, completely separate bile ducts and digestive tract, and a single placenta and umbilical cord containing two arteries and six veins. The karyotype was normal. Diagnostic ultrasound criteria for thoracopagus conjoined twins include: the relative position of the two fetuses facing each other, hyperextension of the cervical spine, continuity of the skin and mirror image body parts with limbs close together. The presence of a single heart, liver and umbilical cord, all of increased size, confirms the diagnosis. Various degrees of fetal fusion result from incomplete division of the inner cell mass 13 to 15 days after fertilization. Although the precise causes are unknown, many workers believe that the factors responsible for monozygosity may also play a role in conjoined twins. In Switzerland, 1% of all live births are twins with approximately 1/4 of these monozygotic. If incomplete division of the inner cell mass occurs in 1% of these cases, the estimated incidence of conjoined twins is 1/40000 births. Although thoracopagus twins are more frequent, omphalopagus twins are more commonly encountered at birth, due to lower fetal mortality. The overall prognosis depends on the degree of organ sharing between fetuses. Very few surgically separated thoracopagus conjoined twins have lived and those who did survive had separate hearts. Also, conjoined twins can cause dystocia with the risk of rupture of the uterus, and often require cesarean section which may have negative consequences for the obstetrical future of the mother. However, an early ultrasound diagnostic can modify prognosis and allow medical termination of pregnancy in the case of seriously malformed thoracopagus conjoined twins. The risk that the condition recurs in a subsequent pregnancy may be considered negligible.