Successful early in utero management of fetal hydrothorax in a twin pregnancy

We present a case of dichorionic diamniotic twin pregnancy in which one of the fetuses was found to have a major pleural effusion at 15 weeks of gestation. A single-needle pleural fluid aspiration was performed at 15 and 16 weeks, but the fluid reaccumulated quickly after each procedure and at 16 weeks, the fetus was found to become progressively hydropic. A shunt was then successfully inserted at 17 weeks, which is the earliest gestation reported so far in the literature for such a procedure to treat isolated hydrothorax. Because we felt that the fetus would be too small for a classical double-pigtail pleuroamniotic shunt, we used a multilength double-pigtail bladder stent (Harrison drain; Cook; Spencer; Indiana; USA) via a 13-gauge echo tip trocar. This shunt could be used for both singleton and twin pregnancies presenting with fetal pleural effusion from as early as 16 to 17 weeks to prevent the development of fetal hydrops and polyhydramnios and subsequent premature delivery. Treatment at this stage of gestation would also minimize the risk of lung hypoplasia, which is the main clinical issue when shunts are inserted after 24 weeks. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal findings in a monozygotic twin pregnancy with Costello syndrome

This report describes the prenatal findings in monozygotic twins with Costello syndrome. At 16 weeks one twin had 9 mm of nuchal oedema: coarctation of the aorta was diagnosed after birth. At 22^5/7 weeks relative macrocephaly, mild pyelectasia and moderate polyhydramnios were noted in both twins. In the following 4 weeks the polyhydramnios increased significantly without visualisation of filling of the stomach. Between 27^5/7 and 30^2/7 weeks a total of 9 l amniotic fluid was drained and at 30^4/7 weeks prelabor premature rupture of membranes (PPROM) occurred followed by premature labor and delivery. The neonatal period was complicated by growth retardation, deglutition problems, hypotonia, cardiac and respiratory problems. Both twins died on Day 57 because of respiratory insufficiency. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of trisomy 10 p in a twin pregnancy

A twin pregnancy with trisomy 10 p due to a paternal 10;12 translocation is reported. The prenatal diagnosis steps followed in twin pregnancies are reviewed and the concordant features of trisomy 10 p seen in both fetuses confirm previous reports on the clinical features of this chromosomal defect.     

Monochorionic and dichorionic twin pregnancies discordant for fetal anencephaly: a systematic review of prenatal management options

The aim of this study was to evaluate the effect of selective feticide (SF) compared to expectant management (EM) on perinatal outcome in dichorionic and monochorionic twins discordant for anencephaly. For this purpose, we conducted a systematic review of literature and added ten unpublished cases. As a result, we found that in dichorionic twins, mean gestational age (GA) at birth in the SF group was 38.0 weeks versus 34.9 weeks (P = 0.0002). Mean birth weight was 2922 g in the SF group versus 2474 g (P = 0.03). In monochorionic twins, mean GA at birth was 35.2 weeks versus 32.7 weeks (P = 0.1). Mean birth weight was 2711 g versus 1667 g (P = 0.0001). We conclude that while SF does not reduce perinatal mortality, it does result in significantly longer gestations and higher birth weight, and appears to be the management of choice in dichorionic twins discordant for anencephaly. In monochorionic twins, SF also increases birth weight, but in view of the complexity of this group, no clear recommendations can be made. Copyright © 2008 John Wiley & Sons, Ltd.     

Prenatal diagnosis of pericentric inversion of chromosome no. 17 in a twin pregnancy

Although prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counselling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.     

Prenatal diagnosis and management of twin pregnancies complicated by a co-existing molar pregnancy

Recent advances in ultrasound and molecular genetics have increased our understanding and hence enhanced the perinatal management of complete and partial hydatidiform mole. By contrast, the management of a twin pregnancy combining a normal pregnancy with a normal fetus and a complete hydatidiform mole (CHM) remains complex and controversial due to conflicting data from different parts of the world. The aim of this review is to analyse the international literature on twin pregnancies that include a mole, present the complications and outcome of pregnancy and to discuss the perinatal management. Management is complicated and women should be counselled about the maternal and fetal complications, and the pregnancy monitored carefully by a perinatal team with experience in high-risk obstetrics and access to neonatal care. The data reviewed here suggest that a woman who decides to continue with the pregnancy including a CHM must be aware that, overall, she only has a one in four chance of live birth and in around 35% of cases she will develop persistent trophoblastic disease (PTD) after delivery. In ongoing pregnancies, there will be, in at least 20% of the cases, an early onset of pre-eclampsia (PET) and a 29% risk of fetal loss due to late miscarriage, intrauterine death and neonatal death. Maternal serum human chorionic gonadotrophin (MShCG) could be useful in predicting outcome in twin pregnancy combining normal pregnancy and CHM, but this needs to be investigated prospectively. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of renal agenesis in a twin gestation

Bilateral renal agenesis is a lethal congenital anomaly. It appears to be transmitted in a polygenic pattern. The prenatal ultrasound findings consist of severe oligohydramnios, absence of the fetal bladder, and failure to identify fetal kidneys. Twin gestations with renal agenesis have been described in the paediatric literature. We detail a case of a patient with two prior affected pregnancies with bilateral renal agenesis. Her latest pregnancy was diagnosed prenatally, with one fetus with bilateral and the other fetus with unilateral renal agenesis. The ultrasound findings should be differentiated from the stuck twin phenomenon.     

Prenatal exclusion of late infantile metachromatic leucodystrophy in a late-presenting pregnancy by assay of fetal leucocytes

Metachromatic leucodystrophy was excluded in a fetus at risk, by assay of fetal blood collected at fetoscopy. Isolated fetal leucocytes were shown to have activities of arylsulphatase A and cerebroside sulphatase in the heterozygous range. The prediction was confirmed in the newborn.     

Prenatal analyses in a pregnancy at risk for β-mannosidosis

Prenatal analyses were performed in the pregnancy of the mother of a patient with β-mannosidase deficiency. Partial deficiency of β-mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first-trimester diagnosis was subsequently confirmed by amniocentesis.     

Prenatal interventions for fetal lung lesions

The widespread availability of high resolution ultrasound equipment and almost universal routine anatomy scanning in all pregnant women in the developed world has lead to increased detection of abnormalities in the fetal thorax. Already in the 1980s, large pleural effusions and significant macrocystic lesions in the fetus were easily detected on ultrasound. However, smaller lung tumours were often missed. Nowadays, fetal medicine centres receive many referrals for evaluation of fetal lung lesions, of which the most common are congenital cystic adenomatoid malformation and bronchopulmonary sequestration. Almost invariably, both the parents and the referring physicians experience anxiety after detection of large lung masses in the fetus. However, the vast majority of the currently detected fetal lung lesions have an excellent prognosis without the need for prenatal intervention. In the small group of fetuses in which the prognosis is poor, almost exclusively those with concomitant fetal hydrops and cardiac failure, several options for fetal therapy exist, often with a more than 50% survival rate. Indications, techniques, complications and outcomes of these interventions will be described in this review. Copyright © 2011 John Wiley & Sons, Ltd.