Inexperienced sonographers can successfully visualize and assess a three-dimensional image of the fetal face using a standardized ultrasound protocol.

INTRODUCTION: A standardized three-dimensional ultrasonographic (3DUS) protocol is described that allows fetal face reconstruction. Ability to identify cleft lip with 3DUS using this protocol was assessed by operators with minimal 3DUS experience. MATERIAL AND METHODS: 260 stored volumes of fetal face were analyzed using a standardized protocol by operators with different levels of competence in 3DUS. The outcomes studied were: (1) the performance of post-processing 3D face volumes for the detection of facial clefts; (2) the ability of a resident with minimal 3DUS experience to reconstruct the acquired facial volumes, and (3) the time needed to reconstruct each plane to allow proper diagnosis of a cleft. RESULTS: The three orthogonal planes of the fetal face (axial, sagittal and coronal) were adequately reconstructed with similar performance when acquired by a maternal-fetal medicine specialist or by residents with minimal experience (72 vs. 76%, p = 0.629). The learning curve for manipulation of 3DUS volumes of the fetal face corresponds to 30 cases and is independent of the operator's level of experience. DISCUSSION: The learning curve for the standardized protocol we describe is short, even for inexperienced sonographers. This technique might decrease the length of anatomy ultrasounds and improve the ability to visualize fetal face anomalies.

Continuous recording intrarectal pressures during the second phase of labor.

UNLABELLED: Parameters of intrarectal pressure (surface area under pressure curve and peak pressure) recorded with a microsystem device during the second phase of labor showed no significant correlations with baby's weight or mode of delivery. AIM OF THE STUDY: Was to assess the biomechanical pressures delivered against pelvic floor structures during the second phase of labor in nulliparae women, and to correlate them with obstetrics parameters, i.e. baby's weight and mode of delivery. MATERIAL: Using a microsystem device placed into the rectum at the beginning of the second phase of labor, two parameters were assessed during the bearing efforts in 59 nulliparae women: the surface area under the pressure curve and the peak pressure. RESULTS: During 11.5±9 bearing efforts of 99.1±16 s duration, the mean value of surface area under the pressure curve was 32677±26058 cm/s and the mean value of the peak pressure was 60.7±24 cmH(2)O, exceeding 100 cmH(2)O in 10% of women. These two parameters were not correlated with baby's weight (R: 0.19, P: 0.15 and R: 0.05, P: 0.71). In the same way, these two parameters were not correlated with the mode of delivery (spontaneous or forceps/vacuum-assisted). Furthermore, the individual values of these two parameters showed great variation from one woman to another. CONCLUSION: This study has showed that parameters of biomechanical pressures recorded into the rectum during second phase of labor had no significant correlations with obstetricals parameters, explaining why these latter have poor predicitive value of further pelvic floor problems.

Anti-60-kDa heat shock protein antibodies in fetal serum: a biomarker for unexplained small for gestational age fetuses.

INTRODUCTION: Small for gestational age (SGA) is an important problem affecting 10% of pregnancies and is associated with significant perinatal morbidity. In about 80% of cases, a probable etiology or a major risk factor can be identified. But almost 20% of SGA cases are considered unexplained. The 60-kDa heat shock protein (HSP60) is a highly immunogenic protein whose synthesis is greatly upregulated under nonphysiological conditions. Bacterial and human HSP60 share a high degree of sequence homology, and immunity to conserved epitopes may result in development of autoimmunity following a bacterial infection. We hypothesized that unexplained SGA could be the consequence of immune sensitization to human HSP60. METHODS: Unexplained SGA fetuses were identified by ultrasound biometry with normal Doppler velocimetry and with no detectable maternal or fetal abnormalities. Fetal sera were obtained by cordocentesis performed for a karyotype analysis in cases of unexplained SGA (study group) or for screening of Rhesus incompatibility (control group). Fetal sera were tested for HSP60 antigen and for IgG and IgM anti-HSP60 by ELISA as well as for other immune and hematological parameters. RESULTS: Maternal parameters were similar between the 12 study cases and the 23 control cases. The mean gestational age at cordocentesis was 29 weeks. IgM anti-HSP60 was detected in 12 cases (100%) and in no controls (p < 0.00017), while IgG anti-HSP60 was detected in 7 cases (58%) and only 1 control (p < 0.001). Three of the 4 cases with the highest IgM antibody levels died. There were no differences in fetal serum levels of HSP60 antigen or other immune and hematological markers between the two groups. CONCLUSION: Fetuses with unexplained SGA are positive for IgM and IgG antibody to human HSP60 and the specific IgM antibody level is predictive of fetal mortality. Detection of these antibodies indicates that a placental perturbation and a fetal autoimmune reaction to HSP60 are associated with this developmental delay.

[Fast-track multimodal rehabilitation after cesarean, the sum of all tricks]. / Réhabilitation accélérée multimodate postcésarienne, la somme de toutes les astuces.

Fast-track multimodal rehabilitation after cesarean, the sum of all tricks Fast-track multimodal rehabilitation after caesarean is an interdisciplinary concept allowing an accelerated return to normal physiology. Fast-track rehabilitation combines minimising surgical trauma, regional anaesthesia and active management of pain control, minimally invasive postoperative care while promoting return to autonomy.

[Role of the PAP smear in adolescence]. / Place du frottis cytologique à l'adolescence.

The publication of the 2006 directives concerning the management of PAP smears has incited us to update our internal protocols at the CHUV, which are described in this article. A new addition to these directives is the specific management of adolescent PAP smears, who present both a high HPV carriage rate and increased incidence of cytological abnormalities with a favorable outcome in most cases. Our goal is to avoid over-treating dysplasias in this type of patient in order to avoid long-term complications. Emphasis is placed on the first gynecological consultation where a listening ear and clear and targeted information remain essential in the proper management of a young patient.

[In-vitro fertilization: advantage and disadvantage of covering the costs of IVF/ICSI by the health insurance in Switzerland]. / Fécondation in vitro: intérêt et désavantage du remboursement par l'assurance maladie en Suisse.

In-vitro fertilization: advantage and disadvantage of covering the costs of IVF/CSI by the health insurance in Switzerland The reimbursement of certain infertility treatments (stimulation with/without insemination) whereas IVF/ICSI is not leads patients with an indication of IVF to prefer treatments of low efficacy. The costs of multiple pregnancies issued by reimbursed or non-reimbursed fertility treatments are paid by the society. There should be measures to reduce these costs and to take the money used today to pay the complications of infertility treatments to reimburse IVF. The efficacy of such a system (single embryo transfer) has been proven in Belgium since several years. The dangers of complete reimbursement (IVF treatment in cases without any chances of success, only because it is for free) can be avoided by an Efficacy and Safety Board.

[Management of in utero foetal death: Which assessment to undertake?]. / Prise en charge de la mort in utero: quel bilan proposer?

OBJECTIVE: To assess the value of para-clinical exams prescribed in case of in utero foetal death, to result in the establishment of a new algorithm of diagnostic tests. MATERIALS AND METHODS: A retrospective analysis on a series of 106 stillbirths gathered between September 1989 and December 1998 in the obstetrical and gynaecological department of the Lausanne University Hospital which is a tertiary centre. Stillbirth was defined as foetal death occurring as from the date of foetal viability. Thus, only pregnancies from 24 weeks and onwards were included in this series. We excluded all stillbirths occurring during medical termination of pregnancy and cases with incomplete data files. The Fretts' classification was used. The different exams asked by the physician were screened and we analysed their pertinence to determine the aetiological diagnosis for each case. The search for significant risk factors was also taken into account. We compared our management of in utero foetal death with data from the literature to propose a new algorithm. RESULTS: The aetiology of in utero foetal death could be attributed in ninety percent of the cases. The principal causes were in utero growth retardation (19.8%), foetal congenital and chromosomal anomalies (18.9%), infections (15.1%), placental abruption (7.5%), preeclampsia (5.6%), maternal diabetes (3.8%). The remaining 18.9% are divided in to miscellaneous causes. In 10.4% of the cases we could not find any explanation to the death of the foetus. The exams that yielded the most information when done were: foetal autopsy which was abnormal in 92.7%, placental investigation which was abnormal in 93% and the babygramme (X-ray of the foetal skeleton) which was abnormal in 53%. Maternal serology for infections was informative in 6.6% of the cases. CONCLUSION: We present here a protocol for the diagnostic management of stillbirth which is differentiated according to the circumstances surrounding the event. This should prove useful to reduce superfluous tests.

Association between fetal interleukin-1 receptor antagonist gene polymorphism and unexplained fetal death.

OBJECTIVE: In spite of extensive clinical examinations or autopsies, as many as 15% to 40% of stillbirths remain unexplained. A systemic fetal inflammatory response is an independent risk factor for severe neonatal morbidity, mediated by proinflammatory cytokines. As a major anti-inflammatory cytokine, interleukin-1 receptor antagonist (IL-1ra) plays a crucial role modulating the proinflammatory response. The gene coding for IL-1ra (IL1RN) is polymorphic. We hypothesized that fetal possession of a specific allele, IL-1RN*2, associated with increased proinflammatory responses, may increase susceptibility to intrauterine fetal death. STUDY DESIGN: Fetal kidney cells were obtained from paraffin blocks of 27 unexplained stillbirths. DNA was isolated and tested for IL-1RN genotypes by polymerase chain reaction. As a control group, DNA from 302 live births was also tested. RESULTS: There was an enhanced rate of IL-1RN*2 homozygocity, 41%, among unexplained stillbirths compared with the control group, 8.6% (P < .001). Histologic analysis of fetal tissues demonstrated a predominant proinflammatory response in IL-1RN*2 homozygote fetuses. Extensive screening (microbiology, maternal serology, placenta histology) did not identify any specific trigger agent. CONCLUSION: There is an association between unexplained stillbirth and fetal homozygous IL1RN*2 carriage.

[Management of postpartum haemorrhage]. / Prise en charge de l'hémorragie du post-partum.

Today, postpartum hemorrhage remains a leading cause of maternal morbidity and mortality. Medical treatment, various surgical procedures and/or uterine artery embolisation have considerably reduced the risk of hysterectomy. It is important to identify the different risk factors of hemorrhage after delivery and to take the precautions to avoid it. A clear strategy defined by the obstetrical team is essential to decrease the delay in the management of this complication in order to increase the chances of a successful treatment.

Protection against pyrimidine dimers, p53, and 8-hydroxy-2'-deoxyguanosine expression in ultraviolet-irradiated human skin by sunscreens: difference between UVB + UVA and UVB alone sunscreens.

As DNA damage induced by ultraviolet radiation plays an essential role in skin cancer induction, we pursued the measure of several DNA lesions induced by ultraviolet radiation in human skin for determining the efficacy of different topical photoprotectors. Non-exposed skin (buttocks from 20 individuals) was exposed to 10 doses of ultraviolet, which corresponded to three to four minimal erythema doses of solar-simulating radiation, and biopsies were taken at 24 h within the half and one minimal erythema dose sites and a nonirradiated, adjacent control area. We report that even suberythemal doses of ultraviolet radiation are capable of inducing substantial DNA damage, namely pyrimidine dimers, p53 induction, and the DNA base-modified product generated by oxidative stress, 8-hydroxy-2'-deoxyguanosine. All three lesions are induced in a dose-dependent manner. An additional eight individuals were treated with either ultraviolet B or ultraviolet B + ultraviolet A sunblock (sun protection factor 15) and exposed to 71/2 and 15 times the minimal erythema dose on each individual, with biopsies taken at 24 h post-ultraviolet. Pyrimidine dimer and p53 expression were rarely seen in nonirradiated skin but occasional staining was seen in all normal skin for 8-hydroxy-2'-deoxyguanosine. Applications of sunscreens to human skin before irradiation were shown to attenuate erythema but did not completely eliminate all three types of cellular damage when tested up to their sun protection factor 15. Furthermore, ultraviolet B + ultraviolet A sunscreens were less efficient than the ultraviolet B alone formulation for protection against all three lesions. These results suggest that DNA damage assessed in vivo by immunohistochemistry provides a very sensitive endpoint for determining the efficacy or photosensitivity of possible different protective measures in human skin.

Value of the comparative enzyme-linked immunofiltration assay for early neonatal diagnosis of congenital Toxoplasma infection.

BACKGROUND: The transplacental transfer of specific maternal IgG antibodies makes the diagnosis of congenital Toxoplasma infection quite difficult in the neonate. The enzyme-linked immunofiltration assay (ELIFA), comparing at delivery the immunologic profile of the mother's antibody response and that of her child, allows discrimination between IgG antibodies of maternal origin and IgGs synthesized by the fetus. OBJECTIVE: To evaluate the diagnostic reliability of the comparative ELIFA for diagnosing congenital Toxoplasma infection as well as the reliability of testing for IgM- and IgA-specific antibodies in cord blood. METHODS: From November, 1991, to December, 1995, an ELIFA was prospectively performed at delivery on blood samples obtained from 227 women with primary Toxoplasma infection during pregnancy and from their infants. For each child the ELIFA result was evaluated in relation to the serologic follow-up: disappearance of specific anti-Toxoplasma gondii IgG antibodies in the absence of treatment before 12 months of age indicating an uninfected child, as opposed to persistence beyond 12 months of age indicative of a congenital infection. RESULTS: Of 227 children 139 were lost to follow-up. Among the 88 children available for follow up, the ELIFA was negative in 70 infants, 69 of whom were confirmed to be uninfected. Thirteen of these 69 cord blood ELIFA-negative samples were positive for anti-T. gondii IgM and/or IgA detected by means of a conventional immunosorbent agglutination assay. Of the remaining 18 children (representing 75% of all new cases of congenital toxoplasmosis diagnosed during the study period at our institution), the ELIFA was positive in 16, negative in 1 and inconclusive in 1. CONCLUSIONS: The ELIFA test is a valuable tool for diagnosing congenital T. gondii infection and in differentiating between true neonatal infection and cord blood contamination. In our experience the diagnostic sensitivity of the ELIFA test was 94.1% and the specificity was 98.6%. The cord blood was contaminated by specific maternal anti-T. gondii IgA and/or IgM in as many as 20% of the cases.

Toxoplasma gondii infection during pregnancy: T lymphocyte subpopulations in mothers and fetuses.

Prenatal diagnosis of fetal toxoplasmosis is possible with the use of fetal blood sampling, amniocentesis and ultrasound examination. The purpose of this study was to describe T lymphocyte subsets (CD3, CD4 and CD8) in mothers and their fetuses when Toxoplasma gondii infection occurred during pregnancy. Maternal and fetal blood samples were obtained in 86 cases and 9 fetuses showed T. gondii infection. Control groups consisted of 30 healthy nonpregnant women and 30 pregnant women. Pregnant women with T. gondii infection showed an increase in the suppressor (CD8) T subpopulation and a significant depression in the total helper (CD4) T cells. These alterations were more important in mothers whose fetus was infected. We showed the progressive maturation of the fetal immune system with a regular increase of all T lymphocyte subsets. Marked alterations were observed in the 9 infected fetuses (depression of CD4 population and lower CD4/CD8 ratio). In the future these differences might be used as a new marker of the severity of fetal lesions and become a useful diagnostic tool.

Preparation and analysis of fetal liver extracts.

The aim of this work is to describe the techniques that have been used for preparation and analysis of whole fetal liver extracts destined for in utero transplantation. Nine fetal livers between 12 and 17 weeks of gestation were prepared: cell counts and assessment of the hematopoietic cell viability were performed on cell suspensions. Hepatocytes represented 40 to 80% of the whole cell population. The remaining cells were constituted by hematopoietic cells (mainly erythroblasts), as well as by endothelial cells. The latter expressed CD34 on their surface, interfering with the assessment of CD34+ hematopoietic cells by flow cytometry. Direct visual morphologic control using alkaline phosphatase anti-alkaline phosphatase techniques was needed to differentiate hematopoietic from extra-hematopoietic CD34+ cells. Between 3.0 and 34.6 x 10(6) CD34+ viable hematopoietic cells were collected per fetal liver. Adequate differentiation of these cells into burst-forming units erythroid (BFU-E), colony-forming units granulocyte-macrophage (CFU-GM), and colony-forming units granulocyte erythroid macrophage megakaryocyte (CFU-GEMM) has been shown for each sample in clonogeneic cultures. In conclusion, fetal liver is a potential source of hematopoietic stem cells. Their numeration, based on the presence of CD34, is hampered by the expression of this antigen on other cells contained in the liver cell extract, in particular endothelial cells.

Clonal imbalances of serum immunoglobulins after allogeneic bone marrow transplantation: an analysis by high-resolution two-dimensional gel electrophoresis.

The clonality pattern of immunoglobulins (Igs) produced after allogeneic bone marrow transplantation (BMT) was studied by high-resolution two-dimensional polyacrylamide gel electrophoresis (2D-PAGE) of serum samples and purified Igs. With this technique, the light (L) chain of a monoclonal Ig usually appears as a single spot. Thus, the degree of clonal diversity of the functional B cells can be appreciated by the electrophoretic pattern of the serum L chains. Furthermore, 2D-PAGE allows a semi-quantitative determination of prominent Ig clones according to the size of L chain spots. We found that serum electrophoretograms of 8/19 patients after BMT (5-9 months) revealed L chain patterns which were similar to those of normal polyclonal Igs, that is, less than five distinguishable small spots among a cloud-like indiscrete L chain spots region ('polyclonal' pattern). A spectrum of clonal abnormalities was observed on the electrophoretograms of 11/19 patients: in five patients, multiple small L chain spots (corresponding to Ig concentrations between 0.2 and 2 g/l) were detected ('oligoclonal' pattern), whereas in six others, 'typical' monoclonal Igs (Ig concentrations > 2 g/l) were observed with (3/19 patients) or without (3/19 patients) multiple small clonal components. Sequential analysis of serum obtained from patients at different times after BMT revealed that imbalanced clonal reconstitution was transient and evolved towards apparently normal polyclonal Ig production. Our observations show that the development of clonal 'gammopathies' after BMT is a frequent, but not obligatory phenomenon. It may reflect a transient restriction of the B cell repertoire either through a limited outgrowth of precursor cells or through selective antigenic pressures.

Maternal antiplatelet antibodies in predicting risk of neonatal thrombocytopenia.

OBJECTIVE: To determine the incidence of maternal antiplatelet antibodies in cases of thrombocytopenia during pregnancy, using the monoclonal antibody-specific immobilization of platelet antigens assay; and to assess the usefulness of this assay for predicting risk of neonatal thrombocytopenia. METHODS: A total of 6770 pregnant women were included in the study, and the monoclonal antibody-specific immobilization of platelet antigens assay was done when platelet counts were less than 150 x 10(9)/L. Platelet counts were determined in 6103 newborns. RESULTS: The incidence of maternal thrombocytopenia was 11.6% (95% confidence interval [CI] 10.8, 12.4). Among newborns, 1.3% (95% CI 0.5, 2.7) born to thrombocytopenic mothers were thrombocytopenic, compared with 0.4% (95% CI 0.2, 0.6) born to nonthrombocytopenic women. Antiplatelet antibodies were detected in 37 (8.6%) of 430 thrombocytopenic women; autoantibodies were detected in 28 cases (circulating or bound to platelets), alloantibodies in eight cases, and an association of alloantibodies and autoantibodies in one case. The positive and negative likelihood ratios for predicting neonatal thrombocytopenia were 4.6 and 0.7, respectively. CONCLUSION: The monoclonal antibody-specific immobilization of platelet antigens assay did not predict the risk of neonatal thrombocytopenia in an unselected population of thrombocytopenic pregnant women.

The effects of birth on urinary continence mechanisms and other pelvic-floor characteristics.

OBJECTIVE: To determine the effects of delivery on bladder and anorectal functions. METHODS: One hundred forty-nine nulliparas were studied once during pregnancy and again about 9 weeks after delivery by means of questionnaire, clinical examination, perineal sonography, urethral pressure profiles, and recording of intravaginal and intra-anal pressures during pelvic-floor contraction. RESULTS: Stress urinary incontinence was present in 46 patients (31%) during pregnancy and persisted in ten of them after delivery. After vaginal delivery, urinary and fecal incontinence were present in 36% and 4% of forceps-delivered women, respectively, and in 21% and 5.5% of spontaneously delivered women. Bladder neck mobility was increased significantly after all vaginal births, whereas bladder neck position at rest was lowered only in forceps-delivered women. Functional urethral length was decreased in the supine and standing positions after spontaneous and forceps deliveries. Otherwise, indices of urethral sphincter function were unchanged or improved after vaginal delivery. A significant decrease in intravaginal pressure and in intra-anal pressure was observed in all vaginally delivered women. The intra-anal pressure decrease correlated significantly with infant weight (r=0.24, P=.01). Women who underwent cesarean had no specific complaints and only slight modifications of these measurements. CONCLUSION: After spontaneous and instrumental deliveries, 21% and 34% of women complained of stress urinary incontinence and 5.5% and 4% reported fecal incontinence, respectively. Substantial bladder neck hypermobility was present together with diminished functional urethral length and intravaginal and intra-anal pressures. Only 22% of patients with stress urinary incontinence during pregnancy had such incontinence after delivery.

Pelvic floor education after vaginal delivery.

OBJECTIVE: To assess the effect of pelvic floor education after vaginal delivery on pelvic floor characteristics in nulliparous women. METHODS: We examined 107 nulliparas during pregnancy and at 9 weeks and 10 months after vaginal delivery. Methods used included a questionnaire, clinical examination, perineosonography, urethral pressure profiles, and intravaginal and intra-anal pressure recordings during pelvic floor contraction. After the second examination, the women were assigned in alternating manner to either 12 sessions of pelvic floor exercises with biofeedback and electrostimulation (n = 51) or no training (n = 56). The two groups were compared at the third examination. RESULTS: Stress urinary incontinence incidence decreased in 2% of control subjects compared with 19% of women who underwent pelvic floor education (P =.002), whereas the incidence of fecal incontinence (5% versus 4%, P = 1) and the percentage of women who recovered predelivery pelvic floor contraction strength (33% versus 41%, P =.4) were no different. We observed no significant differences in bladder neck position and mobility, urethral functional length, maximal urethral closure pressure, pressure transmission ratio, residual area of continence at stress standing, or intravaginal or intra-anal pressures during pelvic floor contraction between groups at the third examination. CONCLUSION: Pelvic floor education, begun 2 months postpartum, significantly reduced the incidence of stress urinary incontinence, but not fecal incontinence or weak pelvic floor. Similarly, bladder neck behavior, urodynamic characteristics, intravaginal or intra-anal pressures during pelvic floor squeezing also were not modified.

Platelet count at term pregnancy: a reappraisal of the threshold.

OBJECTIVE: To assess the safety of a new platelet count threshold for the definition of maternal thrombocytopenia late in pregnancy. METHODS: A platelet count was performed in 6770 pregnant women late in pregnancy and in 6103 of their newborns as well as in a control group of 287 age-matched nonpregnant healthy women. RESULTS: The prevalence of maternal thrombocytopenia (platelet count less than 150 x 10(9)/L) was 11.6%. The mean platelet counts (248 compared with 213 x 10(9)/L) and 2.5th percentile (164 compared with 116 x 10(9)/L) were significantly higher in healthy nonpregnant women than in pregnant women. Among thrombocytopenic pregnant women, 621 (79%) had platelet counts between 116 and 149 x 10(9)/L; none (0%; 95% confidence interval 0, 0.6) had complications related to thrombocytopenia, and none of their newborns had severe thrombocytopenia (platelet count less than 20 x 10(9)/L). CONCLUSION: In healthy pregnant women, a platelet count over 115 x 10(9)/L late in pregnancy does not require further investigation during pregnancy and may be considered a safe threshold.

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 congenital cytomegalovirus infection.

OBJECTIVE: To assess prospectively the diagnostic reliability and prognostic significance of prenatal diagnosis of cytomegalovirus (CMV) infection. METHODS: One hundred ten pregnant women (four with twin pregnancies) with a risk of congenital CMV infection were investigated. Prenatal diagnosis was carried out by amniocentesis and fetal blood sampling (n = 75) or amniocentesis alone (n = 35). Serial ultrasonographic examinations were performed from time of referral until pregnancy end. All infected neonates were given long-term follow-up. Autopsy was performed in all cases of termination of pregnancy. RESULTS: Nearly 23% (26 of 114) of fetuses were infected and prenatal diagnosis was positive in 20 cases. Sensitivity of prenatal diagnosis was 77% and specificity 100%. In eight cases, parents requested termination of pregnancy on the basis of abnormal ultrasonographic findings and/or biologic abnormalities in fetal blood. In 12 cases, parents decided to proceed with the pregnancy. In this group, one intrauterine and one neonatal death were observed. In one case, prenatal diagnosis revealed an abnormal cerebral sonography and the infant had bilateral hearing loss at birth. In 15 cases (nine positive and six false-negative prenatal diagnoses), no apparent lesion was present at birth, nor did it develop during the follow-up period (mean 31 months). In 88 (77.2%) of 114 infants, no evidence of vertical transmission was found during the pre- or postnatal period. CONCLUSION: Prenatal diagnosis provides the optimal means for both diagnosing fetal infection (amniocentesis) and identifying fetuses at risk of severe sequelae (ultrasound examination, fetal blood sampling), thus allowing proper counseling.