Laser therapy for twin-twin transfusion syndrome in a dizygotic monochorionic twin pregnancy: A case report.

OBJECTIVE: A monochorionic dizygotic (MCDZ) twin is rare, especially when complicated with twin-twin transfusion syndrome (TTTS) and treated by laser therapy. CASE REPORT: A pregnancy achieved from oocyte donation and intracytoplasmic sperm injection resulted in two embryos transferred. A monochorionic diamniotic twin pregnancy was diagnosed by an early ultrasound; however, at 16 weeks of gestation, instead of the same sex, the ultrasound suspected there was sex discrepancy between the twins. TTTS with severe polyhydramnios occurred at 22 weeks, leading to a laser therapy, which was followed with a smooth post-operation course. Then the Cesarean section was performed at the gestational age of 29 weeks due to severe preeclampsia, giving birth to two live newborns: one female and one male baby both without neurological sequelae at the time of discharge. Blood chromosomes obtained at delivery and 65 days after delivery all revealed an XX and XY chimera from both babies. CONCLUSION: Laser therapy is also effective in MCDZ twin complicated with TTTS. Determination of chorionicity in early pregnancy could timely prompt us to watch out for complications unique to monochorionic twin pregnancy.

Chorionic bump at 11 to 13 weeks' gestation: Prevalence and clinical significance.

OBJECTIVE: To gather additional data on pregnancy outcome when a chorionic bump is detected at the time of the 11- to 13-week scan. METHODS: The presence of a chorionic bump was prospectively recorded in a database of women presenting for their first-trimester sonographic screening. Clinically relevant information was obtained by reviewing ultrasound reports and medical records or contacting the referring obstetrician or the parents themselves. RESULTS: During a 4.5-year study period from June 2014 to December 2018, a chorionic bump was identified in 23 out of 3375 pregnancies, for a prevalence of 1/147 or 0.7%. All women were asymptomatic at the time of evaluation. The chorionic bump was single in 21 (91%) cases, located in the central part of the placenta in 17 (74%) cases, and the median largest diameter was 20 mm (range, 10-43). Although the placenta was low-lying in 14 (61%) cases, all but one patient had a normally located placenta at the midtrimester anatomy scan. With the exception of one pregnancy complicated with trisomy 21, the outcome was universally good. CONCLUSION: Our experience suggests that a chorionic bump detected during the 11- to 13-week scan is usually a transient, is incidental finding, and probably has no clinical significance.

The chorionic bump: Etiologic insights from two pathologic pregnancies.

The clinical significance and etiology of the chorionic bump remain unclear. We describe two pregnancies characterized by chorionic bumps, which subsequently were diagnosed with a complete mole and trisomy 18, respectively. We hypothesize that placental pathology, including edema and hydropic villi, may contribute to or cause the sonographic finding of some chorionic bumps. An association between chorionic bumps and aneuploidy awaits future study. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:452-454, 2016.

The outcome of twin pregnancies discordant for trisomy 21.

The management of twin pregnancies discordant for trisomy 21 is dependent on the gestation at diagnosis, chorionicity, and parental preference. Our experience with the management of 15 cases in 1,839 twin pregnancies over a 12-year period is described. Selective termination is not always associated with a successful outcome for the normal co-twin. Two of the three monochorionic twin pregnancies affected by trisomy 21 were discordant. Amniocentesis should be strongly considered rather than chorionic villus sampling in monochorionic twin pregnancies. Pregnancies that continue with a trisomy 21 affected fetus are at risk of polyhydramnios and premature labor.

Monochorionic twin fetus with VACTERL association after intracytoplasmic sperm injection.

We report a rare case of a monochorionic twin gestation after intracytoplasmic sperm injection (ICSI) in which one of the fetuses had VACTERL association. A 27-year-old woman became pregnant by ICSI and was found to have monochorionic twin fetuses. One fetus was noted to have the following anomalies: a multicystic, dysplastic left kidney with a hydroureter, and a dilated colon. A normal-sized stomach and normal amount of amniotic fluid were observed during the prenatal period with no other anomalies. The postnatal examination revealed hypospadias, and anal, esophageal, and duodenal atresia; thus, a diagnosis of VACTERL association was established. Although the prenatal diagnosis of this disorder is a challenge, even in a singleton, some of the characteristic features observed during antepartum ultrasonography may be a clue to the diagnosis, especially in a twin pregnancy after ICSI.

Selective intrauterine growth restriction in monochorionic twin pregnancies: markers of endothelial damage and metabolomic profile.

The aim of this study was to assess the aorta-intima thickness (aIT) and serum metabolomic profile in selective intrauterine growth-restricted (sIUGR) monochorionic diamniotic (MCDA) twin fetuses presenting Doppler velocimetry alterations. Fetal abdominal aIT was measured by ultrasound at 32 weeks of gestation, enrolling 24 MCDA twin fetuses (8 sIUGR and 16 controls). sIUGR twin fetuses were classified into two groups: Group 1 consisted of sIUGR with abnormal umbilical artery (UA) Doppler waveforms and Group 2 included sIUGR with normal UA Doppler. Group 3 were control fetuses appropriate for gestational age (AGA). Fetal blood samples were obtained from the umbilical vein immediately after fetal extraction. A non-targeted metabolomic profiling investigated fetal metabolism alterations by using liquid chromatography-high-resolution mass spectrometry (LC-HRMS). Median fetal aIT was significantly larger in Group 1 (median value = 0.9 mm; range = 0.8-1.0 mm; p < .002) and Group 2 (median value = 0.8 mm; range = 0.7-0.8 mm; p < .002) than in AGA Group 3 (median value = 0.5 mm; range = 0.4-0.6 mm; p < .002). Metabolomic analyses, performed on four sIUGR cases (Group 1) compared with four AGA co-twins, showed an upregulation of phenylalanine, sphingosine, glycerophosphocholine, and choline, and a downregulation of valine, tryptophan, isoleucine, and proline sIUGR Group 1 compared with AGA. Although for metabolomics data only a statistical tendency (and not a statistical significance) was reached due to the small sample size, we believe that our results represent a valid starting point for further in-depth metabolomic and proteomic investigations of sIUGR in MCDA fetuses.

Expectant management in type II selective intrauterine growth restriction and abnormal cord insertion in monochorionic twins.

OBJECTIVE: To assess perinatal outcome in type II monochorionic (MC) diamniotic twin pregnancies (DA) affected by selective intrauterine growth restriction (sIUGR) and abnormal cord insertion managed expectantly. METHODS: A prospective longitudinal study from June 2008 and July 2011 on 24 MCDA sIUGR twins. sIUGR was defined as estimated fetal weight below the 10th percentile in one twin and was classified into three groups based on umbilical artery (UA) Doppler diastolic flow (I: presence; II: constantly absent/reverse (AEDF/ARED); III: intermittently absent or reverse). Marginal cord insertion was defined as insertion within 2 cm of the placental disc edge, and velamentous insertion as a cord insertion into the fetal membranes. Expectant management was chosen in these twins, and absent or reverse A wave in the ductus venosus (DV) was a criterion for delivery. Neonatal outcome was available for all twins delivered. Pathological examination and vascular cast of placentas were performed in all cases. RESULTS: Fourteen twin pregnancies were type II sIUGR, and ten presented an abnormal umbilical cord insertion. Median gestational age (GA) at diagnosis of sIUGR was 18 weeks' gestation (range 16-20 weeks), and all sIUGR co-twins showed AEDF of UA at a median gestational age of 20 weeks (range 18-22 weeks). Median gestational age at delivery was 30 weeks (range 28-34 weeks) with a median birth weight of 1285 g (range 307-1725 g). pH at birth and base excess (BE) were normal in all IUGR co-twin (pH>7.10, median BE 5.5); Apgar score at 5 min was >7. Perinatal outcome was favorable in all cases. Placental pathological examination confirmed the marginal insertion of the umbilical cord and the absence of anastomosis between the two portions of umbilical insertion. CONCLUSIONS: This study highlights that expectant management for sIUGR type II twins with or without an abnormal cord insertion should be a valid option to time delivery for these fetuses as shown by the favorable neonatal outcome.

Outcome of monochorionic twin pregnancies with abnormal umbilical artery Doppler between 16 and 20 weeks of gestation.

OBJECTIVES: To study the perinatal outcome among monochorionic diamniotic (MCDA) twin pregnancies with absent or reversed end-diastolic flow of the umbilical artery (UA-AREDF) at 16-20 weeks of gestation. METHODS: This was a retrospective study of 84 MCDA twin pregnancies, which were followed up since first trimester in a single obstetric unit. Pregnancies with fetal structural anomalies or genetic syndromes, and those with single intrauterine death before 16 weeks were excluded. The study group was divided into four groups based on the finding of UA-AREDF at the routine follow-up scan at 16-20 week, and the presence of complications at the same time of recruitment. The perinatal outcome between these groups was compared. RESULTS: AREDF was present in 56.7% of the 30 monochorionic (MC) twins with complications at recruitment. The mortality was significantly higher among those with AREDF. Among the 54 uncomplicated cases at recruitment, only 7.41% had AREDF. The presence of isolated AREDF was associated with significantly higher incidence of growth discordance (25.0% vs. 2%). The incidence of perinatal mortality and twin-to-twin transfusion syndrome was almost doubled (25.0% vs. 9% and 25.0% vs. 14%). CONCLUSIONS: AREDF of the umbilical artery is uncommon in normal MC twin in mid-trimester. Once AREDF is present, the perinatal outcome is much worse. Doppler assessment of the umbilical artery should be considered in all MC twin pregnancies for risk assessment.

Perinatal outcome of monochorionic twins with selective IUGR compared with uncomplicated monochorionic twins.

OBJECTIVE: To evaluate the perinatal outcome of MC twins with selective IUGR (sIUGR). STUDY DESIGN: A prospective study, which included three groups of MC twins: Group A, uncomplicated MC twin pregnancies (n = 91); group B, sIUGR with normal umbilical artery Doppler (n = 19); and group C, sIUGR with abnormal (absence or reversed EDV) umbilical artery Doppler (n = 18). The latter were routinely hospitalized in the high-risk ward under strict surveillance. RESULTS: Neonatal outcome of fetuses complicated with sIUGR and normal Doppler was similar to controls. Neonates born to pregnancies complicated by sIUGR and abnormal Doppler had significantly increased incidence of CNS findings, RDS, NEC, sepsis, and neonatal death compared to controls. Adverse outcome in this group was independently associated only with gestational age at birth. CONCLUSION: The perinatal outcomes of MC twins complicated with sIUGR and normal Doppler are similar to uncomplicated MC pregnancies. MC twins with sIUGR and abnormal Doppler have reasonable outcomes, yet significantly more neonatal complications compared to non-complicated MC twins.

The relationships of umbilical venous volume flow, birthweight and placental share in monochorionic twin pregnancies with and without selective intrauterine growth restriction.

This study was conducted to investigate the relationship among umbilical venous volume flow, birthweight and placental share in monochorionic twins with or without selective growth restriction. Having excluded cases complicated with twin-to-twin transfusion syndrome and one co-twin suffering intrauterine fetal death, a total of 51 monochorionic twin pregnancies were divided into two groups as with (group 1) and without (group 2) selective intrauterine growth restriction. Umbilical venous volume flow was calculated by multiplying the umbilical vein cross-sectional area by half of the maximal velocity around mid-trimester. The placentas were cut along the vascular equator into two individual placental masses. The discordance of birthweight was calculated as [(birthweight of larger twin-birthweight of smaller twin)/birthweight of larger twin 100%]. The discordances of umbilical venous volume flow and placental share were calculated in a similar fashion. The median umbilical venous volume flow discordances (68.4% and 15.3% in groups 1 and 2 monochorionic twins, respectively) were similar and correlated well with the placental share discordances (66.6% and 18.5% in groups 1 and 2 monochorionic twins, respectively) but not with the birthweight discordance (28.6% and 6.4% in groups 1 and 2 monochorionic twins, respectively) in both groups. We concluded that the umbilical venous volume flow discordance reflects the placental share discordance rather than the birthweight discordance in monochorionic twin pregnancies.

The chorionic bump: Radiologic and pathologic correlation.

Chorionic bump is a rare abnormal condition of the gestational sac seen in the first trimester of pregnancies, extending from the choriodecidual surface to the gestational sac. We report the sonographic and histopathologic findings in a case involving three "chorionic bumps" extending from the choriodecidual surface to the gestational sac. Chorionic bump can be associated with a poor prognosis for the pregnancy. Therefore, cases with chorionic bumps must be followed with serial ultrasound examinations throughout the first trimester.

Monochorionic diamniotic twin pregnancies pregnancy outcome, risk stratification and lessons learnt from placental examination.

Monochorionic diamniotic twin pregnancies have a more hazardous intrauterine stay than their dichorionic counterparts because of the vascular anastomoses that connect the two fetal circulations. The survival of monochorionic twins diagnosed in the first trimester is 89%. Twin-to-twin transfusion syndrome (TTTS) occurs in 9% and is the most important cause of death. Risk assessment by ultrasound scan in the first and early second trimester identifies a subgroup of monochorionic twins with a more than 70% risk of a complicated outcome and a survival rate of only 69%. For complicated monochorionic twin pregnancies, umbilical cord coagulation for selective feticide has a survival rate of 83% with a normal development in 92%. Umbilical cord coagulation also results in a good outcome for the healthy co-twin of a heterokaryotypic monochorionic pair. Unequally shared placentas have a more elaborate blood exchange, which reduces the birthweight discordance. In these cases, the anastomoses fulfill a beneficial role by increasing the availability of oxygen and nutrients to the twin on the smaller placental share. Pairs with early onset discordant growth have a higher mortality and a more unequally shared placenta than pairs with late onset discordant growth. Unequal placental sharing therefore appears to be the cause of early onset discordant growth, whereas a late intertwin transfusion imbalance may be involved in some cases with late onset discordant growth. Finally, placental examination after laser treatment for TTTS demonstrated that successful coagulation of all visible anastomoses cures TTTS. However, anastomoses can be missed and lead to a complicated pregnancy outcome.

Placental characteristics of selective birth weight discordance in diamniotic-monochorionic twin gestations.

Up to 21% of diamniotic-monochorionic twin pregnancies are complicated by severe birth weight discordance in the absence of twin-to-twin transfusion syndrome, a serious condition termed 'selective' birth weight discordance. While its pathogenesis remains incompletely understood, the development of selective intertwin growth discordance, related to fetal growth restriction of one twin, is generally attributed to aberrant placental characteristics. The aim of this study was to characterize the placental markers of selective birth weight discordance, with special emphasis on the choriovascular architecture. A prospective cohort of 319 consecutive diamniotic/monochorionic twin placentas was examined at Women and Infants Hospital between 2001 and 2009. After exclusion of placentas from pregnancies complicated by twin-to-twin transfusion syndrome (TTTS), monoamniotic, multiple and disrupted placentas, 216 placentas (36 birth weight (BW)-discordant and 180 BW-concordant) formed the subject of this study. Following dye injection, the anatomic characteristics and choriovascular anastomotic patterns of BW-discordant and BW-concordant placentas were compared. The BW-discordant placentas showed significantly higher frequencies of velamentous cord insertion (22% versus 8%, P < 0.001) and uneven placental sharing (56% versus 19%, P < 0.0001) compared with BW-concordant placentas. The frequencies of intertwin AA, VV and AV anastomoses, the net number of AV anastomoses, and the net cross-sectional area of AV anastomoses were similar in both groups. There was no correlation between the frequency of velamentous cord insertion and degree of placental sharing or patterns of choriovascular anastomoses in either group. In conclusion, velamentous cord insertion and uneven placental sharing are the two major placental determinants of selective birth weight discordance in diamniotic-monochorionic twins. The role of the intertwin anastomoses, even when unbalanced, is likely negligible. Elucidation of the mechanisms whereby velamentous cord insertion affects fetal growth may lead to more focused and effective therapeutic strategies for twin and singleton pregnancies complicated by dysregulated fetal growth.

Monochorionic diamniotic twins concordant for anencephaly: a case report.

BACKGROUND: Anencephaly occurs in 1.4-4.7 per 10,000 deliveries and is thought to result from failed closure of the anterior neuropore at 24-26 days post fertilization. Among twins, risk for congenital malformations is greatest among monozygotic twins. Several occurrences of twin pairs being discordant for neural tube defects have been reported: 1 twin affected with anencephaly and co-twin affected with holoprosencephaly, spina bifida or encephalocele, is consistent with a multifactorial pattern of inheritance. We present an instance of monochorionic diamniotic twins concordant for anencephaly. CASE: An 18-year-old, gravida 1, para 0, Caucasian woman presented with monochorionic diamniotic twin gestation at 22 weeks. Prenatal ultrasound identified polyhydramnios, anencephaly, ventricular septal defect and suspected rocker-bottom feet in twin A. Twin B was identified as anencephalic, with left renal agenesis and spinal distortion visualized on ultrasound. Postnatal cytogenetic evaluations of placenta, umbilical cord blood and fetal skin samples from both twins revealed 46,XX karyotypes. CONCLUSION: A rare case of a monochorionic diamniotic gestation concordant for anencephaly is presented. Previously published reports of concordant twin anencephaly have postulated a possible autosomal recessive or multifactorial mode of inheritance. Subsequent pregnancies with anencephaly or other open neural tube defects would indicate a mendelian process.

The value of umbilical artery Doppler velocimetry in the antenatal surveillance of uncomplicated monochorionic twin pregnancies.

OBJECTIVES: To investigate the predictive value of abnormal umbilical artery Doppler findings on outcome in uncomplicated monochorionic (MC) twin pregnancies. METHODS: Sixty-seven MC twin pregnancies, with antenatal care and delivery at the University Medical Center, Utrecht, The Netherlands, between 1999 and 2004, were studied. Pregnancies with antenatal signs of twin-to-twin transfusion syndrome were excluded. We analyzed the data according to both the last Doppler measurement of the umbilical artery before delivery and the presence of any abnormal Doppler measurement during the course of pregnancy. Risks of mortality and total neonatal morbidity were stratified according to the Doppler findings in one or both fetuses at the time of each standard ultrasound assessment in order to estimate the risk associated with an abnormal Doppler finding at or before that specific gestational age. RESULTS: Mortality rates were similar in the normal and abnormal Doppler groups. Using both group definitions, total neonatal morbidity was higher in the abnormal Doppler group; this was significant at > 32 weeks' gestation, and was due to lower birth weight and earlier gestational age at delivery. There was no mortality at > or = 36 weeks in the abnormal Doppler group, but there were four perinatal deaths in the normal Doppler group. Gestational age at delivery was significantly lower when one or more abnormal Doppler findings had been present (median, 34 + 1 weeks vs. 36 + 3 weeks) and infants with abnormal Doppler findings weighed on average 261 g (95% CI, 21-502 g) less than those with normal findings. CONCLUSIONS: In MC twins, abnormal Doppler flow of the umbilical artery identifies a subgroup at risk for preterm delivery, low birth weight and neonatal morbidity, but with a similar mortality risk to those with normal Doppler flow. At term, mortality occurred only in the group with normal Doppler findings, suggesting that fetal surveillance is insufficient in uncomplicated term MC twin pregnancies.