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Objectives: To determine the most efficient and tailored screening method for aneuploidies in twins for the French population., Material and Methods: Articles were searched using the PubMed and the Cochrane libraries., Results: In cases of twin pregnancies, the aneuploidy's risk related to maternal age as well as gestational age must be considered as being the same as in singletons. In bichorionic twins, we have to consider individually the nuchal translucency thickness of each twin. In monochorionic twins, we have to consider a range of risks related to the nuchal translucency measurements of each twins. The additional benefit of maternal serum biochemistry screening in twins is not as established as in singletons., Conclusion: The most appropriate method of screening for aneuploidies in twin pregnancies is based during the first trimester of pregnancy on the risk related to maternal age combined with those related to the nuchal translucency measurement. In the absence of first-trimester screening, it is possible to offer a screening method based on the second trimester maternal serum biochemistry and/or by a targeted ultrasound., (Copyright © 2009 Elsevier Masson SAS. All rights reserved.)

Objectives: Etiologic diagnosis of multiple congenital abnormalities (MCAs) is often lacking. Large chromosome abnormalities can be detected by conventional cytogenetic methods, but more subtle chromosome micro-rearrangements and/or de novo abnormalities require multi-FISH analysis, which is hampered by the amount of material available in prenatal testing. Methods: We used the comparative genomic hybridization (CGH) array, Genosensor™ Array 300, to screen for classic microdeletion syndromes and subtelomeric rearrangements in 39 consecutive fetuses with MCAs, after termination of pregnancy, in a prospective study. Thirty-seven of them had a normal karyotype, and two had a de novo unbalanced karyotype that could not be characterized with conventional cytogenetic methods. Results: Two de novo unbalanced karyotypes were characterized by array CGH, and four additional abnormalities were diagnosed: an unbalanced inherited cryptic translocation, a deletion in band 22q11.2, a 1p36 deletion, and a 6p12.1–21.2 duplication. Conclusion: Chromosomal imbalances were therefore detected and/or characterized in 6 of 39 (15.4%) fetuses, indicating the value of routine array CGH in cases of MCAs and in uncharacterized chromosome rearrangements. Extension to all prenatal diagnoses may be warranted when copy number variation is identified and all FISH probes are commercially available. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective To evaluate the outcome of severely anaemic monochorionic (MC) twins surviving the death of their co-twin following early intrauterine rescue transfusion in cases of feto-fetal transfusion syndrome (FFTS). Study design We reviewed all MC pregnancies complicated with FFTS following primary management, in which a single intrauterine fetal death (IUFD) was diagnosed with certainty within 24 hours between January 1999 and December 2006. We included MC survivors who presented ultrasound or Doppler features of fetal anaemia following the death of their co-twin. Intrauterine transfusion (IUT) was given to all survivors who were anaemic. Results Nineteen MC twin pregnancies presented a single intrauterine death (IUD) associated with an anaemic co-twin. Median gestational age at IUD was 23 [20–28] weeks. The median interval between IUD and IUT was 12 [8–24] hours. There were 58% (11/19) healthy survivors. Perinatal death rate was 26% (5/19) including 16% (3/19) intrauterine and 10% (2/19) neonatal deaths. Abnormal prenatal cerebral findings developed in 21% (4/19) cases, always within 1 month after the death of the co-twin. Considering occlusive techniques and other management separately, there were 64% (7/11) and 50% (4/8) healthy survivors, respectively, and perinatal death occurred in 36% (4/11) and 12.5% (1/8) of fetuses, respectively. Prenatal fetal cerebral lesions developed in 9% (1/11) of cases following occlusive techniques and in 37.5% (3/8) of fetuses when managed differently. The median gestational age at delivery in the survivors was 31 [25–38] weeks. Conclusion In cases of FFTS with single anaemic survivors, early IUT could be offered following extensive counselling and close follow up. [ABSTRACT FROM AUTHOR]

Objectives: Measuring the thickness of the membranes to determine chorionicity in twins using two-dimensional (2D) ultrasound may provide uncertain results, given the possibility of measuring in an oblique view. We aimed to determine whether chorionicity can be assessed during the second and third trimesters by measuring the thickness of the membranes with three-dimensional (3D) multiplanar ultrasound, which ensures the measurement is perpendicular to the membranes, and to evaluate the reproducibility of the technique. Methods: This was a prospective study of 84 twin pregnancies (30 monochorionic and 54 dichorionic) between 20 and 35 weeks of gestation. The dividing membranes between the fetuses were visualized with 2D and 3D transabdominal sonography and the thickness of the membranes was measured by the multiplanar technique. Intraobserver variability was assessed by comparing the measurements obtained in sagittal and axial views by the same observer. We examined the frequency distributions to determine the optimal cut-off point of the thickness of the membranes to predict chorionicity. Kappa index, intraclass correlation coefficients and 95% limits of agreement were calculated to evaluate the inter- and intraoperator variability. We also compared membrane-thickness measurement, during the second and third trimesters, using 2D and 3D ultrasound. Results: In monochorionic and dichorionic pregnancies, respectively, the mean thickness was 1.42 (SD, 0.31) mm and 2.48 (SD, 0.47) mm. With 3D ultrasound, the intraclass correlation coefficient was 0.99 in all cases. The 95% limits of agreement were all within +/-0.2 mm. The best cut-off for membrane thickness for discriminating monochorionic from dichorionic twinning was 1.8 mm. Using this cut-off, there were one false-negative (sensitivity, 97%; 95% CI, 83-99%) and three false-positive (specificity, 94%; 95% CI, 85-99%) diagnoses of monochorionic twins. Kappa indices for intra- and interoperator variability were all above 90%, suggesting almost perfect agreement. Measurements with 2D sonography were less accurate (sensitivity and specificity, 83%). Conclusion: Prenatal assessment of dividing membranes using 3D multiplanar ultrasound is reproducible and may be a useful alternative method for determining chorionicity in twin pregnancies during the second and third trimesters. [ABSTRACT FROM AUTHOR]

Large placental chorioangiomas are rare complications in pregnancy. We present a case of a placental chorioangioma, complicated by polyhydramnios, in which obliteration of its blood supply using diode laser coagulation at 25 weeks of gestation was followed by an uneventful pregnancy and delivery of a healthy baby with a normal follow-up at the age of 9 months. Laser coagulation of the feeding vessels seems to be an effective treatment for chorioangiomas when the blood supply is superficial and the feeding vessels are small in diameter. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented which discusses a case of a 27-year-old primigravida who was diagnosed of Blake's pouch cyst after first-trimester observation of enlarged intracranial translucency.