Determination of optimal timing of serial in-utero transfusions in red-cell alloimmunization.

OBJECTIVES: To assess the performance of middle cerebral artery peak systolic velocity (MCA-PSV) and of the expected daily decrease in fetal hemoglobin in determining the timing of serial in-utero transfusions (IUT) in red-cell alloimmunization. METHODS: This was a retrospective study of a continuous series of suspected anemic fetuses undergoing IUT between June 2003 and December 2012. Doppler measurement of MCA-PSV and pre- and post-transfusion hemoglobin levels were recorded at the time of the first, second and third IUT. Receiver-operating characteristics (ROC) curves and negative and positive predictive values of MCA-PSV in the prediction of severe fetal anemia were calculated. The daily decrease of fetal hemoglobin (Hb) between IUTs was calculated. Regression analysis was used to assess the correlation between pretransfusion fetal hemoglobin and MCA-PSV, and between observed and expected (by projection of daily decreases) pretransfusion fetal hemoglobin levels. RESULTS: One hundred and eleven fetuses required an IUT, of which 96 and 67 received a second and third IUT, respectively. The area under the ROC curve for MCA-PSV in the prediction of severe fetal anemia was not different for each rank of transfusion. The positive predictive value of MCA-PSV decreased from 75.3% at the first IUT, to 46.7% and 48.8% at the second and third IUTs, respectively, while the negative predictive value for a 1.5-MoM threshold remained high (88.9% at the second and 91.7% at the third IUT). The mean daily decrease in hemoglobin following each transfusion was 0.45, 0.35 and 0.32 g/dL, respectively. There was a persistent linear correlation between fetal hemoglobin and MCA-PSV and between observed and expected fetal hemoglobin levels. CONCLUSIONS: Both MCA-PSV and projection of daily decrease in hemoglobin are reliable means of diagnosing fetal anemia following previous IUTs. The high negative predictive value of MCA-PSV could allow subsequent IUTs to be postponed in selected cases.

[Follow-up of pregnancies with red-cell allo-immunisation: State-of-the art]. / Le point sur le suivi des allo-immunisations érythrocytaires.

Anti-RhD allo-immunisation has become rare since anti-D prophylaxis was introduced in the seventies; however, it remains the first cause of fetal anemia. It may cause severe fetal complications such as fetal hydrops, cerebral anoxic lesions and fetal death. In the neonatal period, severe jaundices and anemias requiring transfusion or exsanguino-transfusion are still common in case of severe allo-immunisation. Neonatal death and sequellae due to bilirubin encephalopathy have not fully disappeared. Follow-up of pregnancies with maternal allo-immunisation requires identification of the antibody (anti-RhD, anti-Kell and anti-c are the most frequently responsible for fetal complications), dosage and titration. In RhD allo-immunization, feto-maternal incompatibility may be confirmed by non-invasive RHD genotyping of the fetus in maternal blood. In cases at risk for fetal anemia, weekly Doppler assessment of middle cerebral artery peak systolic velocity (MCA-PSV) allows identification of fetal anemia before the occurrence of fetal hydrops. The reference treatment of fetal anemia is in utero fetal transfusion. The risk of fetal loss due to in utero transfusion (IUT) is 3% per procedure. The cumulated risk of fetal loss can thus exceed 10% in case of early occurrence of fetal anemia requiring up to five or six IUTs in a single pregnancy.

[Do hysteroscopic metroplasties really improve really reproductive outcome?]. / Les sections de cloisons et les plasties d'agrandissement ont-elles réellement un impact obstétrical?

The aim of metroplasties is to restore a normal uterine anatomy to improve obstetrical outcomes in some uterine malformations. The hysteroscopic septoplasty cures the septate uterus. It is an effective procedure in the case of recurrent abortion losses. It probably improves the rate of live birth in women without obstetrical antecedent. For some authors, it could be considered at the time of the diagnosis, because of the simplicity of the gesture and the low complication rate. The enlarging hysteroscopic metroplasty has certainly a positive impact on the obstetrical outcome in patients presenting a uterine hypotrophy or dysmorphy, in particular in women exposed in utero to DES. However, the proofs are poor to propose this procedure as first-line treatment, apart from specific cases such as old null gravid patient or before inclusion in an Assisted Reproductive Techniques (ART) program.

Cerebral metastases of a choriocarcinoma during pregnancy.

BACKGROUND: Cerebral metastasis of choriocarcinoma during pregnancy is rare. Described is the fourth case in the literature. CASE: A pregnant women at 28 weeks' gestation sought care for headaches followed by loss of consciousness. The diagnosis of choriocarcinoma metastases was made on the basis of the combination of cerebral and pulmonary lesions, all suspected to be metastatic, and a high beta human chorionic gonadotropin level. A premature cesarean delivery was performed to improve the mother's prognosis; the responsiveness of choriocarcinoma to chemotherapy made it important for treatment to begin as rapidly as possible. The outcome has been on balance favorable, even though her sequelae include paraplegia. The child has no apparent sequelae. CONCLUSION: The diagnosis of choriocarcinoma must be considered when acute neurological signs appear in a pregnant patient.

Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.

Prader-Willi syndrome (PWS) results from either paternal deletion of 15q11-q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS.

[Pheochromocytoma associated with pregnancy. Report of 2 cases and review of the literature]. / Association phéochromocytome et grossesse. A propos de 2 cas et revue de la littérature.

Pheochromocytoma is rarely observed during pregnancy and not easily diagnosed, especially since the clinical manifestations may mimic common gravid hypertension. The maternal and fetal prognosis depends on early diagnosis and multidisciplinary management preparing for tumor resection. Appropriate laboratory tests easily provide the positive diagnosis, if they are ordered. The tumor is localized by ultrasonography or magnetic resonance imaging (MRI). By prescribing an alpha-blocker, it is possible to prepare the resection as a function of term, before or after delivery. This strategy allows a reduction in maternal and fetal mortality which is high if the pheochromocytoma goes undiagnosed.

[Dissection of the ascending aorta in pregnancy. Apropos of a case and review of the literature]. / Dissection de l'aorte ascendante et grossesse. A propos d'un cas et revue de la littérature.

Dissection of ascendant aorta is infrequent during pregnancy. Given this low prevalence, diagnosis is often delayed or even unrecognized. This delay in diagnosis can have a highly jeopardizing effect on vital maternal prognosis. In this study, we report a case of ascendant aorta dissection in the 3rd trimester of pregnancy with maternal and fetal survival through combined surgery of a cesarean section and replacement of the ascendant aorta.