Second-trimester fetal aberrant right subclavian artery: original study, systematic review and meta-analysis of performance in detection of Down syndrome.

OBJECTIVES: First, to estimate the prevalence of fetal aberrant right subclavian artery (ARSA) in our population and its association with Down syndrome. Second, to determine the feasibility of ultrasound to visualize ARSA in the three planes. Finally, to carry out a systematic review of the literature on the performance of second-trimester ARSA to identify fetuses with Down syndrome. METHODS: ARSA was assessed by ultrasound in the axial plane and confirmed in the longitudinal and coronal planes during the second half of pregnancy in women attending our unit (from February 2011 to December 2012). A search of diagnostic tests for the assessment of ARSA was carried out in international databases. Relevant studies were subjected to a critical reading, and meta-analysis was performed with Meta-DiSc. RESULTS: Of the 8781 fetuses in our population (mean gestational age: 24 ± 5.4 weeks), 22 had Down syndrome. ARSA was detected in the axial view in 60 cases (0.7%) and confirmed in the coronal view in 96.7% and in the longitudinal view in 6.7% (P < 0.001). Seven cases with ARSA had Down syndrome and all were in the non-isolated-ARSA group. The estimates of positive likelihood ratio (LR) were 0 for isolated ARSA and 199 (95% CI, 88.9-445.2) for non-isolated ARSA. In the systematic review, six studies were selected for quantitative synthesis. The pooled estimates of positive and negative LRs for global ARSA were, respectively, 35.3 (95% CI, 24.4-51.1) and 0.75 (95% CI, 0.64-0.87). For isolated ARSA, the positive and negative LRs were 0 (95% CI, 0.0-14.7) and 0.98 (95% CI, 0.94-1.02), respectively. CONCLUSIONS: The prevalence of ARSA seems close to 1%. The coronal plane is the most suitable for its confirmation after detection in the axial plane. Detection of isolated or non-isolated ARSA should guide decisions about karyotyping given that isolated ARSA shows a weak association with Down syndrome.

Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery.

Potocki-Lupski syndrome (PTLS) is a rare genetic disorder associated with neurodevelopmental delay and heart defects. We report the first case of prenatal diagnosis of PTLS in a fetus with hypoplastic left heart and aberrant right subclavian artery. Detection of a fetal heart defect should be followed by chromosomal and genetic studies in order to rule out fetal aneuploidy and/or associated genetic syndromes with significant implications for the treatment of children with PTLS.

[Laparoscopic management of a spontaneous live monochorionic monoamniotic twin tubal ectopic pregnancy. A case report]. / Tratamiento laparoscópico de una gestación ectópica tubárica gemelar monocorial monoamniótica espontánea. Caso clínico.

We present a case of a spontaneous live monochorionic monoamniotic twin tubal ectopic pregnancy detected by transvaginal ultrasound scan after medical therapy with single dose of methotrexate failed. The incidence of this type of ectopic pregnancies is probably arising due to the increasing use of the assisted reproduction techniques, but they are underdiagnosed and mistreated, as surgical approach seems to be the most adequate in these cases.

Efficacy and safety of Etanercept, high-dose intravenous gammaglobulin and plasmapheresis combined therapy for lupus diffuse proliferative nephritis complicating pregnancy.

We report one case of pregnancy-onset severe diffuse proliferative nephritis in a patient with systemic lupus erythematosus (SLE), who was successfully treated with a combination of anti-tumour necrosis factor (TNF)-alpha, plasmapheresis and high-dose intravenous gammaglobulin. No flares were observed either in clinical symptoms or in laboratory examinations during pregnancy or after delivery. Her autoantibodies except fluorescent anti-nuclear antibodies were negative. We suggest that a combination of anti-TNF-alpha, plasmapheresis and high-dose intravenous gammaglobulin may be a safe and effective therapy for pregnant patients suffering severe lupus nephritis.

Molecular analysis of a gestation consisting of a complete hydatidiform mole and normal dizygotic twin.

OBJECTIVE: To identify a twin pregnancy consisting of a complete mole and coexistent fetus by means of molecular cytogenetics and DNA polymorphisms. STUDY DESIGN: Seven highly polymorphic DNA markers were used to establish the androgenetic origin of a complete hydatidiform mole that coexisted with a normal 46,XY fetus. Cytogenetic analysis of mole nuclei was performed with centromeric probes, demonstrating a 46,XX constitution. RESULTS: Molar tissue was diploid with two X chromosomes, possibly due to chromosome doubling after monospermic fertilization of an ovum with inactivated or absent nucleus. CONCLUSION: Although contamination with maternal tissue may be difficult to avoid, molecular markers provide the possibility of distinguishing between a complete hydatidiform mole and coexisting normal fetus versus a partial mole, with methods that can be performed antenatally. This distinction is important since in the first case up to 24% of fetuses described in the literature have been viable, and the risk of subsequent development of persistent trophoblastic tumor in patients with a complete mole and a coexisting fetus is considerably higher than in patients with a single, complete hydatidiform mole.