Discordance of fetal genotype or phenotype in monozygotic twins: a report of 2 cases.
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Discordance of fetal genotype or phenotype in a monozygotic twin pregnancy is rare.In case 1, a 28-year-old woman at 15 weeks' gestation was found to have a dichorionic twin pregnancy with 1 fetus affected with hydrop fetalis. The result of chromosomal study showed that the structurally normal fetus was 46,XY and that the hydropic fetus was 45,X. One week after selective termination of the hydropic fetus at 19 weeks' gestation, the cotwin died in utero. In case 2, a 30-year-old woman at 20 weeks' gestation, was found to have a monochorionic twin pregnancy with 1 fetus presenting with omphalocele. The result of chromosomal study showed that both fetuses were 46,XX. The fetus with omphalocele died in utero at 29 weeks' gestation, and the normal cotwin was delivered later due to fetal distress. Analysis by short tandem repeat markers in both cases indicated that they were monozygotic twins.These cases emphasize the importance of zygosity/chorionicity identification in twin pregnancy even though discordance of fetal genotype or phenotype was found. In monozygotic monochorionic twins, the normal cotwin is at risk for an adverse fetal outcome after 1 spontaneous intrauterine fetal death or selective termination. In monozygotic dichorionic twins, the risk of intrauterine fetal demise of the cotwin after selective termination still exists.Keywords:
Monozygotic twin
Omphalocele
Twin Pregnancy
Zygosity
Hydrops fetalis
Monochorionic twins
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Fetus in fetus (FIF) represents an abnormal embryogenesis in monozygotic diamniotic twin gestation. It has been described in less than 200 cases worldwide. Differential diagnosis predominantly includes teratomas. The case presented here meets the accepted criteria of FIF and is one of the few prenatally diagnosed cases with FIF.In diesem Fallbericht werden die Kriterien einer Fetus-in-Fetu-Malformation erfüllt. Es ist einer der wenigen pränatal diagnostizieren Fälle und der einzige pränatale Fall mit extrafetalem Wachstum des parasitären Zwilling. Die wichtigste Differentialdiagnose eines Fetus in Fetu ist das Teratom. Die Therapie der Wahl ist die kompette Resektion, jedoch von dem Allgemeinzustand und zusätzlichen Fehlbildungen abhängig. Mit detaillierter Sonografie und moderner Bildgebung kann eine pränatale Diagnose gestellt werden und ermöglicht dadurch einen frühen und intedisziplinären Therapieansatz.
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Discordance of fetal genotype or phenotype in a monozygotic twin pregnancy is rare.In case 1, a 28-year-old woman at 15 weeks' gestation was found to have a dichorionic twin pregnancy with 1 fetus affected with hydrop fetalis. The result of chromosomal study showed that the structurally normal fetus was 46,XY and that the hydropic fetus was 45,X. One week after selective termination of the hydropic fetus at 19 weeks' gestation, the cotwin died in utero. In case 2, a 30-year-old woman at 20 weeks' gestation, was found to have a monochorionic twin pregnancy with 1 fetus presenting with omphalocele. The result of chromosomal study showed that both fetuses were 46,XX. The fetus with omphalocele died in utero at 29 weeks' gestation, and the normal cotwin was delivered later due to fetal distress. Analysis by short tandem repeat markers in both cases indicated that they were monozygotic twins.These cases emphasize the importance of zygosity/chorionicity identification in twin pregnancy even though discordance of fetal genotype or phenotype was found. In monozygotic monochorionic twins, the normal cotwin is at risk for an adverse fetal outcome after 1 spontaneous intrauterine fetal death or selective termination. In monozygotic dichorionic twins, the risk of intrauterine fetal demise of the cotwin after selective termination still exists.
Monozygotic twin
Omphalocele
Twin Pregnancy
Zygosity
Hydrops fetalis
Monochorionic twins
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Monochorionic twins
Twin Pregnancy
Twin-to-twin transfusion syndrome
Omphalocele
Vascular surgery
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<i>Background:</i> The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition. <i>Case:</i> We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocenteses demonstrated heterokaryotypia for trisomy 13 in monozygotic twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 32 weeks. The structurally normal twin survived without sequelae, but the abnormal twin died shortly after delivery. <i>Conclusions:</i> This report adds to the literature the second known case of a spontaneously conceived monochorionic twin pregnancy discordant for trisomy 13 and highlights the necessity of sampling both fetuses in cases of monochorionic twins presenting with discordant structural anomalies.
Trisomy
Monochorionic twins
Twin Pregnancy
Monozygotic twin
Abnormality
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The incidence of single fetal death in twin pregnancy varies from 0.5% - 6.8%, leaving the surviving fetus with increased morbi-mortality. The prognosis is worse in monochorionic pregnancies. In addressing these cases it should be noted referral to tertiary center with differentiated perinatal support, induction of fetal lung maturation and termination of pregnancy if there’s loss of fetal well-being or possibility of maternal complications and suspected neurological sequelae in the surviving fetus. The risk of iatrogenic prematurity should always be weighed with the possible consequences arising from the fetus staying in a hostile uterine environment. The authors describe a case of a 32-year-old pregnant woman with monochorionic/diamniotic twin pregnancy diagnosed with death of one of the fetuses due to fetal growth restriction and velamentous insertion of the umbilical cord at 30 weeks of gestation. The couple opted for termination of pregnancy at 33 weeks after documentation of brain changes in the surviving fetus.
Twin Pregnancy
Monochorionic twins
Intrauterine death
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Twin–twin transfusion syndrome (TTTS) is a rare complication affecting 15% of monochorionic twin pregnancies. Therapeutical options for TTTS include serial amnioreduction and selective laser photocoagulation of placental anastomoses. It is thought that laser is superior to amnioreduction in terms of higher likelihood of the survival of at least one twin and lower incidence of periventricular leukomalacia, particularly in advanced stages of the disease. After 26 weeks laser therapy is not usually offered, because of technical difficulty and usually amnioreductions are sufficient to gain few weeks towards viability. However, in the third trimester it seems safe to avoid massive reduction of the amniotic fluid: a recent theory has highlighted the possible hazard of massive amnioreduction in the third trimester. It is thought that a sudden decrease in amniotic pressure may cause a reduction in placental vessels pressure, with a steal effect that could determine fetal hypotension, particularly in the recipient. On the contrary, the donor may be protected because they already have a centralized circulation. We present a case of massive hydrops in the recipient after a 3200 mL amnioreduction at 26 weeks, with Doppler confirmation of fetal anemia.
Monochorionic twins
Fetoscopy
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Introduction: Acardiac twin refers to a monochorionic pregnancy in which there is a twin with absent or nonfunctioning heart and a normal co-twin. This was a very rare disorder of monozygotic twin pregnancy. The aim of this report was to introduce a case of acardiac acephalus twin pregnancy.
Case Presentation: A 32- year- old woman (G3 P2 L2) referred to the hospital because of a decrease in fetal movement at 32 weeks of gestation. Ultrasonography showed a dead fetus. Her earlier sonography showed the possibility of acardiac twin pregnancy, but she did not have any appropriate or special prenatal care for this problem. After delivery, there was a normal dead fetus without any gross abnormality and another acardiac fetus.
Conclusions: Early diagnosis of acardiac twin pregnancy and appropriate prenatal care are of prime importance for appropriate intervention and best fetal outcomes.
Twin Pregnancy
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In Brief BACKGROUND: Chromosomal abnormality in one fetus of a monozygotic twin pregnancy is rare, and discussion of prenatal detection of such a case offers some insight into this clinical problem. CASE: A 28-year-old gravida 1 had ultrasound screening at 11 weeks of gestation that revealed a monochorionic, diamniotic twin pregnancy with increased nuchal translucency (7.7 mm) in one fetus. Subsequent evaluation showed one 45,XY,-21 karyotype and one normal male karyotype. The pregnancy was monozygous by DNA analysis. The affected neonate died 5 minutes after delivery of both twins by cesarean. CONCLUSION: Monochorionic twins discordant for fetal abnormalities can be evaluated with molecular analysis. Study of such cases may reveal the extent to which an early diagnosis can lead to therapeutic interventions to support survival of the viable twin. Nuchal translucency screening conducted for possible Down syndrome identified a case of full monosomy 21 in one fetus of a monozygotic twin pregnancy.
Monosomy
Monozygotic twin
Twin Pregnancy
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Monochorionic twins
Twin Pregnancy
Conjoined twins
Monozygotic twin
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Selective termination of the affected fetus in twin pregnancies was performed in the second trimester of seven pregnancies. The malformations included anencephaly/exencephaly (2 cases), hydrocephalus (1 case), thoracoabdominopagus of "B" and "C" cotwins (1 case), urethral obstruction sequence (1 case) and hygroma colli (2 cases). Intrauterine intervention on the affected fetus was done by transabdominal intracardial injection of 20% NaCl solution in the 15--24 weeks of gestation. All cases had dichorionic placentation. Unaffected co-twin infants were delivered at term with normal weight in 4 cases. In 2 cases the affected fetus was found in the lower gestational sac and both pregnancies, as well as the triplet pregnancy were lost 1--6 weeks and 3 weeks after the intervention, respectively. In the other cases, neither the mother, nor the survived fetus showed any complications. We believe that using hypertonic saline is lethal for the affected fetus but carries little or no risk either the other fetus or the mother, even if small amounts of the solution might inadvertently enter their circulation.
Exencephaly
Anencephaly
Twin Pregnancy
Monozygotic twin
Cystic hygroma
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