Vanished twin and fetal alcohol syndrome in the surviving twin. A case report.

BACKGROUND: The diagnosis of twin pregnancy can be made early in pregnancy by ultrasonography (US). Follow-up examination occasionally demonstrates the disappearance of one of the twins. CASE: A twin disappeared on US examination; the surviving twin exhibited signs of fetal alcohol syndrome and other congenital anomalies, accompanied by a placental form of fetus papyraceus. CONCLUSION: Early US examination is useful for diagnosing multiple gestation. However, a follow-up examination is required to alert the clinician to the disappearance of one twin. Careful examination of the placenta may document fetal remnants. In this case a small, atretic nodule on the placental surface was evidence of the vanished twin.     

Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies

Many authors consider sirenomelia to be an extreme form of caudal regression syndrome (CRS), while others argue that they are two distinct entities. Maternal diabetes mellitus is considered to be an important predisposing factor for both CRS and sirenomelia. Two rare cases of diabetic, dizygotic twin pregnancies, each with one normal and one affected fetus are presented. In case 1 the affected fetus had CRS. In case 2 the affected fetus had sirenomelia. The present cases suggest that the pathogenesis of CRS and sirenomelia is more complex than previously thought, that maternal diabetes is not the only underlying pathogenetic mechanism and that genetic or epigenetic factors probably contribute to the formation of these conditions.     

Non-immune hydrops and superior vena cava syndrome due to diaphragmatic hernia in one twin

BACKGROUND: In a monochorionic twin gestation, hydrops in one fetus often results from placental transfusion, accompanied by intrauterine growth restriction (IUGR) of the non-hydropic fetus. CASE: A 35-year-old G11P9 presented with hydrops and IUGR of one of a monochorionic-diamniotic gestation. Extensive testing failed to reveal etiology for hydrops. The patient was delivered at 30 weeks gestation after non-reassuring fetal monitoring. The hydropic baby could not be adequately ventilated and expired in the early post-partum period. A diagnosis of superior vena cava syndrome and pulmonary hypoplasia secondary to right-sided congenital diaphragmatic hernia (CDH) was made neonatally. CONCLUSION: Right-sided CDH can be difficult to diagnose by sonography at times because of the echogenic similarity of liver and lung, and may be suspected from signs of pericardial effusion and ascites.     

Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin

The etiology of sirenomelia sequence is still obscure. The role of maternal diabetes and a vascular steal phenomenon have been discussed [Gürakan et al. (1996) Turk J Pediatr 38:393-397]. Discordant monozygotic twin sirenomelia has been commonly reported but only rarely in dizygotic twins. The family of the presented twins had a high risk of diabetes mellitus. One of the twins has type 1 sirenomelia and the other had only an imperforate anus.     

Spontaneous abortion of one twin with Down's syndrome followed by delivery of the second twin 14 weeks later; a case report.

Two patients presenting a cervical trophoblastic implantation were treated with selective uterine artery embolization associated with dilatation and curettage. This interventional radiological maneuver helped greatly in the management of the bleeding caused by the ectopic pregnancies.     

Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome in one fetus of a twin pregnancy

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare genetic disorder that affects the muscle tone in the intestinal and urinary tract systems. Prenatal diagnosis is difficult because an identifiable genetic locus is absent and there are no specific ultrasound findings. We present an interesting case of this syndrome diagnosed prenatally in one fetus of a twin pregnancy. A 26-year-old white woman gravida 4, para 2103, at 11 weeks' gestation was diagnosed with a dichorionic diamniotic twin pregnancy. The patient's history was significant for having a previous female infant diagnosed with MMIHS. During a follow-up ultrasound at 26 weeks, one of the twins had multiple anomalies including: a pelvic cystic structure with a keyhole appearance, enlarged stomach, dilated bowel, and prominent renal pelves. Prenatal diagnosis of MMIHS can be possible on ultrasound findings with a positive family history.     

Biamnial elevated alpha-fetoprotein and positive acetylcholinesterase in twins, one with anencephaly

Anencephaly in twin B was accompanied by elevated amniotic fluid alpha-fetoprotein (AFP) and a positive acetylcholinesterase (AChE) band on gel electrophoresis in both twin sacs, although twin A was normal. AChE results did not help distinguish the false positive AFP in this set of twins, implying that AChE may diffuse transamniotically as has been previously postulated for AFP. In light of the low concordance rate for neural tube defects in twins, patient counselling in this situation must include the information that AFP and AChE may be falsely elevated in normal twin when the other twin has a neural tube defect.     

Left microtia in one monozygotic twin. A case report.

Monoamniotic twins are rare, with a double survival rate of only 40%. Congenital anomalies, while more common among twins in general, are particularly common in monoamniotic twins, with the increase principally the result of structural defects. Discordant phenotypes have been reported, but a malformation of the external ear in one twin has not. In a case of double survival of monoamniotic twins, one had left microtia and a single umbilical artery.     

Kallmann syndrome (hypogonadotropism-anosmia) and Klippel-Feil anomaly in the same patient

A 27-year-old female is described with Kallman syndrome and Klippel-Feil anomaly. This is thought to be the first report of the coexistence of these two conditions in the same patient.     

Pathophysiology of polyhydramnios in twin transfusion syndrome.

In 3 cases of severe twin transfusion syndrome we demonstrate that the concentration of atrial natriuretic factor (ANF) in the cord blood of recipient twins is significantly elevated compared to that of donor twins. The discrepancy between recipient and donor concentration correlates with the volume of transfusion. The following pathophysiological mechanism for explaining polyhydramnios in recipient twins is proposed: chronic overload in recipient twins causes enhanced release of ANF from the fetal heart. Consequently, increased fetal urine production leads to polyhydramnios, which is additionally enhanced by inhibition of ADH release.     

Intrauterine death of one twin in the third trimester

OBJECTIVES: The goal of our study was the clinical characteristics of the twin gestations complicated by the intrauterine death of one fetus in the third trimester. MATERIAL AND METHODS: This study was a multicenter retrospective review of 12 twin gestations complicated by the intrauterine death of one fetus in the third trimester. RESULTS: During the study period there were 295 twin gestations. 12 of them (4.1%) were complicated by the intrauterine death of one fetus in the third trimester. Three cases were monochorionic diamniotic and nine dichorionic. Ones gestational age of one fetus demise ranged from 25 to 37 (mean 30.0) weeks. Delivery was performed between 25 and 38 (mean 32.1) weeks. In monochorionic twin gestation the intrauterine death of one twin occurred earlier in gestation, had a shorter duration between the death and delivery, and delivered earlier in gestation. One liveborn infant with monochorionic and two with dichorionic placentation died in the postnatal period. Maternal coagulation changes did not occur in those cases. All live-born infants were without evidence of hematological abnormalities. CONCLUSION: These results suggest that the risk of morbidity and mortality for the living twin is increased, after the death of its sibling, in case of monochorial placentation.     

Significance of twin to twin transfusion syndrome in the prognosis of twin pregnancies and its prenatal diagnosis by ultrasonography

The reason why TTS worsen the prognosis of twin pregnancies was discussed with reference to case results for perinatal death, and antenatal diagnostic criteria for TTS by ultrasonography was established. Of 12 perinatal deaths in 71 twin pregnancies, eight fetuses were affected with TTS (1 acardia, 4 donors, 3 recipients). Perinatal mortality rate (39.3%), rate of preterm lobar (62.2%), rate of polyhydramnion (50.0%), mean amniotic fluid volume (3.310 ml) and cord cross section area ratio (2.38) in monochorionic discordant twins were higher than in the other three groups (monochorionic concordant twins, dichorionic discordant twins and dichorionic concordant twins). Eight fetuses among 12 monochorionic discordant twins were affected with TTS. All twins which showed a single GS in early pregnancy were monochorionic twins. Therefore TTS was considered to have a poorer prognosis than usually reported for all TTS, and to find monochorionic discordant twins with a high cord cross section area ratio must be the key in the screening of TTS. Antenatal diagnosis of TTS by ultrasonography is summarized as follows: 1) A single GS in early pregnancy. 2) Estimated body weight difference between the twins/estimated body weight of the larger twins greater than or equal to 0.2. 3) Cord cross sectional area ratio greater than or equal to 2.0.     

Rapid development of hydrops fetalis in the donor twin following death of the recipient twin in twin-twin transfusion syndrome.

Intrauterine death of one fetus in monochorionic twinning is associated with high rates of perinatal morbidity and mortality in the surviving fetus. Subsequent development of hydrops fetalis in the donor twin after fetal demise of the recipient twin has been described in only two case reports and pathophysiology remains unclear. We report on a monochorionic-diamniotic twin pregnancy complicated by severe twin-twin transfusion syndrome. Ultrasound examination at 20 weeks of gestation showed discrepant twins with oligohydramnios in the smaller twins' sac and polyhydramnios in that of the larger twin. Repeated amniocenteses permitted prolongation of the pregnancy. However, the recipient twin developed deteriorating hydrops fetalis and died at 28 weeks of gestation. After this event, subsequent development of hydrops fetalis in the surviving donor twin could be observed, as well as an increase of amniotic fluid. An elective cesarean section was performed at 29 weeks of gestation. Initial hypoxemia could be effectively treated by high frequency oscillatory ventilation, surfactant therapy and inotropic support. The infant was discharged in good condition at the age of 2 months. Although rare, antenatal demise of the recipient twin in a monochorionic pregnancy can be associated with the subsequent development of hydrops fetalis in the surviving donor twin. We speculate that this phenomenon is due to ischemia-reperfusion injury of the previously poorly perfused twin.     

Two cases of reversible posterior leukoencephalopathy syndrome, one with and the other without pre-eclampsia

Two cases of reversible posterior leukoencephalopathy syndrome (RPLS) are reported. One was a 26-year-old woman, who had pre-eclampsia and developed cortical blindness and subsequent eclampsia at 28 weeks' gestation. The other was a 27-year-old woman, who had no pre-eclampsia and developed loss of consciousness and subsequent systemic convulsion at 36 weeks' gestation. On brain magnetic resonance imaging, they both had high signal intensity on T2-weighted and fluid-attenuated inversion recovery images, and normal signal intensity on diffusion-weighted image of the posterior lobe, which almost disappeared with the amelioration of clinical symptoms thereafter. RPLS is considered to be the result of vasogenic brain edema caused by hypertension. Two hypotheses are conceived to explain the emergence of RPLS without hypertension. The first suggests that an immunotolerant condition such as pregnancy can easily cause vasogenic edema without the elevation of blood pressure. The second suggests that hypertension exists but cannot be detected because it is extremely acute and transient.     

Maternal cell-free messenger RNA in twin pregnancies: the effects of chorionicity and severe twin to twin transfusion syndrome (TTTS)

Objective. To investigate the effects of chorionicity and severe twin to twin transfusion (TTTS) on maternal circulating cell-free messenger RNA (cf-mRNA). Design. Prospective cohort study. Setting. A UK tertiary referral Fetal Medicine Center. Population. All monochorionic (MC) twins complicated by severe TTTS (n= 23) and a cohort of uncomplicated dichorionic (DC) (n= 10) and MC (n= 7) pregnancies, between October 2006 and December 2007. Methods. Maternal cf-mRNA encoding glyceraldehyde 3-phosphate dehydrogenase (GAPDH), vascular endothelial growth factor receptor 1(VEGFR-1(Flt-1)), vascular endothelial growth factor A (VEGF-A), Endoglin, placental growth factor (PlGF), tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (Tie-1), angiopoietin 1 (Ang-1) and angiopoietin 2 (Ang-2) were measured by a quantitative two-step real-time PCR assay after extraction from maternal plasma. Results. The amounts of cf-mRNA detectable are reported for uncomplicated DC, MC and TTTS pregnancies, respectively: GAPDH - 80, 100 and 96%; VEGFR-1 - 10, 0 and 26%; VEGF-A- 80, 71 and 96%; Endoglin-70, 71 and 91%; PlGF-70, 57, 26%; Tie-1 0, 43, 0%; Ang-1 71, 50 and 60% and Ang-2 83, 50 and 89%. There was a significant difference in VEGF-A (medians DC -337.3, MC - 390.8, TTTS - 618.6 copies/mL plasma p= 0.024), Endoglin (medians DC-14.49, MC-1171, TTTS - 2896 copies/mL plasma p= 0.027) and Ang-2 (medians DC-13.66, MC-8.49, TTTS 44.80 copies/mL plasma p= 0.007). Conclusion. Maternal cf-mRNA could be reliably detected for GAPDH, PlGF, VEGF-A, Endoglin, Ang-1 and Ang-2 in twin pregnancies and a significant difference was demonstrated in VEGF-A, Endoglin and Ang-2 between uncomplicated twins and MC twin pregnancies complicated by TTTS. If such alterations in maternal cf-mRNA precede the onset of clinically apparent disease, this may be used as an adjuvant blood test to complement ultrasound screening.