Luísa Pinto

Near term twin pregnancy: clinical relevance of weight discordance at birth.

Abstract Objective: The aim of our study is to evaluate the clinical importance of near term weight discordance in twin pregnancies with both appropriate or with one small for gestational age newborn (AGA and SGA, respectively). Methods: We retrospectively studied 230 twin pregnancies that ended at ≥34 weeks′ gestation. Discordance was defined as an intertwin birth weight difference ≥20% calculated from the heavier newborn. The following data were compared between discordant and concordant pairs: maternal age, parity, mode of conception, placentation, hypertensive disorders of pregnancy, gestational age at birth, route of delivery, reason for termination of pregnancy, Apgar scores, birth weights, admission to neonatal intensive care unit, significant morbidity, malformations found at birth, and perinatal mortality. The discordant pairs were subdivided into two groups: (1) Both twins were AGA; (2) One of the twins was SGA. The two groups were compared to each other, and to the control group of concordant pairs. Results: One hundred and seventy-six twin pairs were concordant (control group) and 54 were discordant. The comparison between the concordant and the discordant groups did not show statistically significant differences in any of the examined parameters. However, the discordant group had a greater incidence of neonatal morbidity. When the discordant subgroups (AGA, n=24 vs. SGA n=30) were compared to the concordant group, these differences persist, particularly in the SGA group. Conclusion: In near term twin pregnancies, birth weight discordance does not seem to predict adverse perinatal outcome except when one of the newborns is SGA.

Limb constriction secondary to pseudoamniotic band syndrome after selective fetoscopic laser surgery: report of a case with a favorable outcome.

Pseudoamniotic band syndrome (PABS) is an iatrogenic complication that causes entanglement of fetal parts in a constrictive sheet of detached or ruptured amniotic membrane after an invasive procedure, namely amniocentesis, amnioreduction or septostomy in twins. The incidence and risk factors for PABS after fetoscopy-guided laser have not been documented [Winer et al.: Am J Obstet Gynecol 2008;198:393.e1–393.e5]. We report a case of monochorionic biamniotic twin pregnancy submitted to selective fetoscopic laser photocoagulation for twin-to-twin transfusion syndrome at 16 weeks of gestation. The procedure was complicated by the death of one of the fetuses at 24 weeks of gestation. Moreover, the surviving twin was diagnosed postnatally with pseudoamniotic band syndrome, presenting with affected limbs. The newborn was submitted to surgical correction of these lesions with a successful outcome and was discharged on day 15.

Prenatal ultrasonographic diagnosis of vein of Galen aneurysms – report of two cases

Aneurysms of the vein of Galen (AVG) represent less than 1% of all intracranial arteriovenous malformations. Two cases of prenatal diagnosis made by color Doppler ultrasonography at 32 weeks of gestation are reported. Both cases presented with antenatal mild cardiomegaly and both developed severe cardiac failure in the neonatal period. Embolization was unsuccessful and both infants died. These cases highlight the need for a careful evaluation of the time and mode of delivery; embolization must be performed after a fully informed decision.

Bethlem myopathy: pregnancy and delivery

We found scarce information available concerning the occurrence of pregnancy in women with hereditary neuromuscular disorders. Many questions are asked by the patients, their families and also by their attending neurologist and obstetrician when planning pregnancy and delivery [1]. Specifically in relation to Bethlem myopathy (BM), information is rare or even absent. Our objective is to report the case of a pregnant woman with BM surveilled at our Department. BM is a rare inherited disorder characterized by slowly progressive muscular dystrophy. It was first described in 1976 by Bethlem and van Wijngaarden and is the result of mutations in the three genes of collagen VI [2–4]. This disorder is characterized by proximal weakness and distal joint contractures [3, 4]. Patients with BM usually become symptomatic during the first or second decade of life, although hypotonia in infancy can be seen [3]. Clinical onset can also be prenatal, when it manifests with reduced fetal movements [5]. Cardiac and pulmonary involvement might be part of the clinical spectrum of BM [5]. For genetic counseling, studies in the extended family are imperative. The determination of possible recessively acting mutations in a patient with BM drastically reduces the risk of disease in the offspring [3]. We describe the case of a 38-year-old pregnant woman with BM diagnosed during adolescence, after neurological evaluation, muscular biopsy, electromyography and molecular tests, and inherited as autosomal recessive. There was no relevant familial history. This was her first pregnancy, obtained after in vitro fertilization. Our patient became symptomatic in childhood, presenting difficulty in jumping and in pulling herself up when climbing stairs. She refers a significant worsening of symptoms after 20 years of age. At the first obstetric visit, it was found that she had a typical waddling gait and was unable to rise from a chair or climb a step without using her arms; limbs and trunk muscles were rather thin and she had generalized proximal weakness and contractures of both biceps muscles and Achilles tendons. Pregnancy progressed uneventfully until the second trimester, when gestational diabetes, bicuspid aortic valve, and mild pulmonary hypertension were diagnosed. A progression of the locomotor disability also occurred, with worsening of proximal weakness of the lower limbs, and at 35 weeks of gestation a wheelchair was needed. Pulmonary function remained normal and she never reported decreased fetal movements. After a multidisciplinary discussion, it was considered that a vaginal delivery could be attempted, despite the lack of experience with similar situations. Labor started spontaneously at 38 weeks of gestation. A vacuum extraction was performed because of the patient’s difficulty in performing expulsive efforts. No maternal or neonatal complications were registered. The newborn was a male, 2,985 g and Apgar score 10/10. The patient returned to autonomous walk 2 weeks after delivery. Cardiac function remained stable. In conclusion, despite the progression of symptoms during pregnancy, after delivery the patient recovered to her pre-pregnancy functional state. Thus, with appropriate multidisciplinary care, pregnancy in women with BM may progress without significant worsening of the disease. C. Nunes (&) J. Barros M. Centeno L. Pinto L. M. Graca Departamento de Obstetricia, Ginecologia e Medicina da Reproducao, Hospital Santa Maria, CHLN, Lisbon, Portugal e-mail: carlasfnunes@hotmail.com

Contents Vol. 32, 2012

R. Achiron, Tel Hashomer N.S. Adzick, Philadelphia, Pa. L. Allan, London A.A. Baschat, Baltimore, Md. K.J. Blakemore, Baltimore, Md. T.-H. Bui, Stockholm F.A. Chervenak, New York, N.Y. T. Chiba, Tokyo R. Chmait, Los Angeles, Calif. F. Crispi, Barcelona J.E. De Lia, Milwaukee, Wisc. J.A. Deprest, Leuven G.C. Di Renzo, Perugia J.W. Dudenhausen, Berlin N.M. Fisk, Brisbane, Qld. A.W. Flake, Philadelphia, Pa. U. Gembruch, Bonn M.R. Harrison, San Francisco, Calif. J.C. Hobbins, Denver, Colo. L.K. Hornberger, San Francisco, Calif. E.R.M. Jauniaux, London M.P. Johnson, Philadelphia, Pa. C. Jorgensen, Copenhagen J.-M. Jouannic, Paris P.M. Kyle, London O. Lapaire, Basel S. Lipitz, Tel-Hashomer G. Malinger, Holon G. Mari, Detroit, Mich. M. Martinez-Ferro, Buenos Aires K.J. Moise, Houston, Tex. F. Molina, Granada K.H. Nicolaides, London D. Oepkes, Leiden L. Otaño, Buenos Aires Z. Papp, Budapest R.A. Quintero, Miami, Fla. G. Ryan, Toronto J. Rychik, Philadelphia, Pa. H. Sago, Tokyo W. Sepulveda, Santiago P. Stone, Auckland D.V. Surbek, Bern B.J. Trudinger, Westmead, N.S.W. J.M.G. van Vugt, Amsterdam Y. Ville, Paris Clinical Advances and Basic Research