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ABSTRACT: INTRODUCTION: Single fetal demise in monochorionic twin gestations represents a significant risk for co-twin demise and neurodevelopmental morbidity. Indirect observations have led to a theory of acute exsanguination of the normal twin into the dying twin as the proposed mechanism. CASE: A 22-year-old G3P2 (2002) female with Quintero Stage IV twin-twin transfusion was referred for evaluation. During the course of the examination, bradycardia with impending fetal demise was noted in the recipient twin. Sudden and rapid development of tachycardia and elevation of the peak systolic velocity of the middle cerebral artery in the donor twin were witnessed. The demise of the donor twin was detected 24 hours later. Placental examination revealed one AV and two VA anastomoses. CONCLUSIONS: These observations support the "vascular sink" hypothesis for co-twin demise and neurodevelopmental abnormalities following single fetal demise in monochorionic twins. Rapid fetal exsanguination can occur even in the presence of a minimal number of placental vascular anastomoses.
Ultrasound in Obstetrics and Gynecology 04/2013; · 3.01 Impact Factor
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ABSTRACT: OBJECTIVE: The aim of this study was to develop a simple clinical algorithm for prediction of donor and recipient death using 'yes'or 'no' questions through the process of recursive partitioning for patients undergoing laser therapy for twin to twin transfusion syndrome (TTTS). The intent was to identify a subset of patients with very high specificity to whom clinical decisions would be simplified. METHOD: Secondary analysis of data retrospectively collected from laser procedures was performed for TTTS at NAFTNet centers from 2002 to 2009. Preoperative factors associated with donor and recipient death were identified by recursive partitioning regression analysis. Classification And Regression Trees (CARTs) were developed to refine specificity for prediction of death. RESULTS: There were 466 TTTS patients from eight centers. CARTs were obtained for prediction of donor death. Improved specificity was achieved through recursive partitioning as demonstrated in receiver operator characteristic curves for prediction of death of the donor. There was less than optimal predictive ability for prediction of death in the recipient, as demonstrated by lack of generation of CARTs. CONCLUSION: Recursive partitioning improves the specificity and refines the prediction of donor fetal and neonatal demise in TTTS treated with laser therapy. This has the potential to improve therapeutic choices and refine counseling regarding outcomes. © 2013 John Wiley & Sons, Ltd.
Prenatal Diagnosis 02/2013; · 2.11 Impact Factor
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ABSTRACT: A 25 year old G(2) P(1001) underwent a fetoscopic laser surgery (FLS) for stage II twin twin transfusion syndrome (TTTS) at 18 weeks of gestation. An ultrasound guided percutaneous entry in the suprapubic region was performed using a 12 F cannula for the procedure due to a central anterior placentation. Complete photocoagulation of 26 vessels was performed followed by the use of the Solomon technique to assure dichorionization of the placenta. Due to a recurrence of the oligo-polyhramnios sequence, a repeat laser was undertaken at 21 weeks of gestation. This was only the second time we have undertaken a repeat procedure in over 400 cases. The decision was made to perform the repeat procedure via a laparoscopic-guided fetoscopy from the right lumbar region using the technique that we have described previously.(1) The uterine cavity was entered using 12 French trocar and cannula. A single neovascularization site consisting of an AV anastomoses over a previously ablated anastomosis was detected and coagulated. During the procedure the initial defect site (Figure 1) was visualized approximately 4-5 cm from the internal cervical os, on the anterior uterine wall. The membrane defect was noted to be approximately 5-6 mm in diameter with no signs of healing such as granulation tissue or vascularization at the edges at the defect site. More importantly, there was no evidence of sliding of the amnion and chorion layers to cover the defect. Additionally, the trocar site of the uterine wall appeared patent showing signs of non-healing of the inner muscular layers with dissected smooth muscle fibers. There appeared to be no evidence of chorioamnion separation either on direct visualization or during transabdominal ultrasound. The patient delivered at 25 weeks' gestation by classical Cesarean delivery due to spontaneous preterm labor. The two neonates survived and currently remain in the neonatal intensive care unit. The site of original fetoscopic defect was identified in the extraplacental membrane and measured 4-5 mm in diameter. Histological examination showed no evidence of healing such as granulation tissue, new collagen deposition and epithelialization.
Ultrasound in Obstetrics and Gynecology 01/2013; · 3.01 Impact Factor
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ABSTRACT: Twin-twin transfusion syndrome (TTTS) is a complex disorder with altered cardiovascular loading conditions that affects both donors and recipients. Myocardial tissue deformation analysis using vector velocity imaging is an angle-independent, speckle-tracking technique which can assess myocardial mechanics and may provide insight into cardiac dysfunction in TTTS.
Digital dynamic two-dimensional four-chamber views were interrogated offline. Images were acquired utilizing standard video frame rates (30 frames/s). The global longitudinal strain, systolic strain rate, and diastolic strain rate were measured in the left (LV) and right ventricles (RV) of 25 fetal pairs with TTTS and compared to 25 gestational age-matched normal controls. Pulsatility indices for the umbilical artery and middle cerebral artery were measured.
The gestational age at evaluation was 20.5 ± 1.3 weeks. The donor LV systolic strain rate was higher, while the donor RV diastolic strain rate was significantly lower, than control values. The recipient longitudinal strain, systolic strain rate, and diastolic strain rate were significantly lower for both LV and RV in comparison to controls. The donor umbilical artery pulsatility index was higher than control values (1.92 ± 0.45 vs. 1.41 ± 0.25, p < 0.001), while the donor middle cerebral artery pulsatility index was lower (1.46 ± 0.28 vs. 1.87 ± 0.21). Recipient umbilical artery and middle cerebral artery pulsatility indices were no different than control values.
In TTTS, both the donor and the recipient exhibit abnormalities of myocardial tissue deformation with ventricle-specific changes evident based on loading conditions. Donor LV systolic function is hyperdynamic due to hypovolemia and selective ejection into a low-resistance cerebrovascular circuit while the donor RV selectively ejects into a high-resistance placental circuit. Recipient RV and LV are both globally depressed with systolic and diastolic dysfunction. Further prospective validation of our findings using high frame rate analysis is indicated.
Fetal Diagnosis and Therapy 05/2012; 32(1-2):131-7. · 1.05 Impact Factor
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Ramesha Papanna,
Mounira Habli,
Ahmet A Baschat, Michael Bebbington,
Lovepreet K Mann,
Anthony Johnson,
Greg Ryan,
Martin Walker,
David Lewis,
Christopher Harman,
Timothy Crombleholme,
Kenneth J Moise
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ABSTRACT: The purpose of this study was to evaluate the benefit of cervical cerclage for cervical length ≤ 25 mm at the time of fetoscopic laser photocoagulation (FLP) for twin-twin transfusion syndrome.
A multicenter, retrospective cohort study was conducted with 163 patients with a short cervix before FLP for twin-twin transfusion syndrome. Seventy-nine of the patients (48%) had cerclage placement at the surgeon's discretion. The outcome measures that were compared were gestational age at delivery and perinatal mortality rates for patients with cerclage and those who were treated conservatively. Outcomes were evaluated with the use of comparative statistics.
There were no differences in the preoperative variables, except cerclage was performed more frequently for a cervical length of ≤ 15 mm (P < .001). There were no differences in the gestational age at delivery (28.8 ± 5.4 vs 29.1 ± 5.6 weeks with and without cerclage, respectively; P = .15); perinatal mortality rates were similar between the 2 groups.
The benefit of cerclage for patients with short cervix before FLP remains questionable.
American journal of obstetrics and gynecology 02/2012; 206(5):425.e1-7. · 3.28 Impact Factor
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ABSTRACT: Congenital skeletal abnormalities compose a heterogeneous and complex group of conditions that affect bone growth and development and result in various anomalies in shape and size of the skeleton. Prenatal sonographic diagnosis of these anomalies is challenging because of the relative rarity of each skeletal dysplasia, the multitude of differential diagnoses encountered when the bony abnormalities are identified, lack of precise molecular diagnosis and the fact that many of these disorders have overlapping features and marked phenotypic variability. The following review is a preliminary summary of our experience at the Children's Hospital of Philadelphia (CHOP) using low-dose fetal CT in the evaluation of severe fetal osseous abnormalities.
Pediatric Radiology 01/2012; 42 Suppl 1:S142-9. · 1.67 Impact Factor
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ABSTRACT: To determine preoperative predictive factors for donor and recipient death after laser ablation of placental vessels in twin-to-twin transfusion syndrome.
Retrospective analysis of North American Fetal Therapy Network center laser procedures, 2002-2009. Factors associated with donor and recipient death were identified by regression analysis.
There were 466 patients from 8 centers. Factors significantly associated with donor fetal death were low donor estimated fetal weight (odds ratio [OR], 0.69; 95% confidence interval [CI], 0.55-0.87) and reversed end diastolic velocity in the umbilical artery (OR, 4.0; 95% CI, 1.54-10.2); for recipient fetal death-low recipient estimated fetal weight (OR, 0.65; 95% CI, 0.44-0.95), recipient reversed "a" wave in the ductus venosus (OR, 2.39; 95% CI, 1.27-4.51) and hydrops (OR, 3.7; 95% CI, 1.1-12.7); for recipient neonatal death-low donor estimated fetal weight (OR, 0.54; 95% CI, 0.30-0.95), high recipient estimated fetal weight (OR, 1.55; 95% CI, 1.06-2.26) and recipient reversed end diastolic velocity in the umbilical artery (OR, 7.8; 95% CI, 1.03-59.3).
Preoperative findings predict fetal and neonatal demise in twin-to-twin transfusion syndrome treated with laser therapy.
American journal of obstetrics and gynecology 10/2010; 203(4):388.e1-388.e11. · 3.28 Impact Factor
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ABSTRACT: The reproductive and gynecologic outcomes for women after the pregnancy complicated by open maternal-fetal surgery (OMFS) were evaluated.
The retrospective review identified 93 women with OMFS from a single institution (1996-2007). Consent and questionnaires were sent to women. Institutional review board approval was obtained from the Committee for Protection of Human Subjects.
The total return rate was 57.3%. Total pregnancies reported were 47, with 36 delivering after 20 weeks' gestation. The uterine dehiscence and rupture rates were 14% and 14%, respectively. Fetal anomalies occurred in 4 subsequent pregnancies. Normal conception occurred in 98% of subsequent pregnancies. Gynecologic issues were reported by 8 women, with infertility, abdominal pain, and ovarian and uterine factors.
The reproductive outcomes of uterine dehiscence (14%) and rupture (14%) in a subsequent pregnancy continue to be a major counseling issue for OMFS. Fertility and gynecologic factors do not appear to be increased for women undergoing OMFS.
American journal of obstetrics and gynecology 09/2010; 203(3):209.e1-6. · 3.28 Impact Factor
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J Rychik,
A Szwast,
S Natarajan,
M Quartermain,
D D Donaghue,
J Combs,
J W Gaynor,
P J Gruber,
T L Spray, M Bebbington,
M P Johnson
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ABSTRACT: To review our experience with the prenatal diagnosis of hypoplastic left heart syndrome (HLHS). Our goal was to establish the benchmark for perinatal and early surgical outcome in the current era, from a center with an aggressive surgical approach and a cohort with a high level of intention-to-treat.
Outcome was assessed in fetuses with HLHS following stratification into high-risk and standard-risk categories. High risk was defined as the presence of any of the following: extracardiac, genetic or chromosomal anomalies; prematurity of < 34 weeks' gestation; additional cardiac findings such as intact or highly restrictive atrial septum, severe degree of tricuspid regurgitation or severe ventricular dysfunction. Standard risk was defined as absence of these risk factors.
Of 240 fetuses evaluated over 5 years, 162 (67.5%) were in the standard-risk group and 78 (32.5%) were in the high-risk group. Of the 240 sets of parents, 38 (15.8%) chose termination or non-intervention at birth at initial prenatal counseling and 185 of the neonates (77.1%) underwent first-stage Norwood surgery with 155 surviving and 30 deaths, giving an overall Norwood operative survival of 83.8%. Breakdown by risk class reveals a significant Norwood operative survival advantage for the standard-risk group (92.8%) over the high-risk group (56.5%) (P < 0.001).
Following prenatal diagnosis of HLHS, families should be strongly encouraged to undertake comprehensive prenatal evaluation in order to obtain an accurate prognosis. One-third have additional risk factors that limit survival outcome, however two-thirds do not and have an excellent chance of early survival.
Ultrasound in Obstetrics and Gynecology 04/2010; 36(4):465-70. · 3.01 Impact Factor
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ABSTRACT: To determine the prenatal evolution/natural history and postnatal outcome of fetuses diagnosed with a neural tube defect (NTD) lacking the Arnold-Chiari-II malformation (ACM II).
This retrospective study reviewed 16 fetuses evaluated with ultrasound (US) and MRI at a single referral center from 1/2000 to 8/2007. Follow-up studies and available postnatal outcomes were reviewed.
Postpartum diagnosis was terminal myelocystoceles 7/16 (44%); myelomeningoceles (MMCs) 3/16 (19%); lipomyelomeningoceles 2/16(13%); and thoracic myelocystocele 1/16 (6%). Three patients (19%) were lost to follow-up or termination of pregnancy. Two prenatally diagnosed 'closed' NTD were postnatally found to be MMCs. Three of the myelocystoceles had additional omphalocele, bladder extrophy, imperforate anus and spinal defect (OEIS complex). For the total cohort, impaired lower extremity function was seen in 38%, impaired bladder function in 64%, and ventriculoperitoneal shunting in 8%. Four fetuses with a myelocystocele developed hindbrain herniation in the third trimester of pregnancy. The preterm delivery rate was 38%. Five of eight (63%) neonates with postnatally diagnosed myelocystoceles had mothers with a body mass index over 30.
Prenatal differentiation between closed and open NTD is not always possible. Postnatal outcome of isolated myelocystocele and MMC seems to be more favorable than for an NTD with ACM II (shunt requirement). Incontinence is the major childhood morbidity. Maternal obesity may be a risk factor for closed NTDs.
Prenatal Diagnosis 08/2009; 29(11):1050-7. · 2.11 Impact Factor
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Michael Bebbington
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ABSTRACT: Whereas monochorionic twins account for only 30% of twin gestations, they contribute to a disproportionate extent to the overall twin perinatal morbidity and mortality. Twin-to-twin transfusion syndrome can occur at any point in a monochorionic gestation but is associated with significant increases in both morbidity and mortality when it develops before 26 weeks of gestation. It is still not possible to predict accurately those pregnancies that will be affected. This has resulted in the practice of routine ultrasound surveillance beginning at the end of the first trimester. Our understanding of the physiology still has many gaps but there is an increased recognition of the heterogeneity that exists especially in the early stages of the disease. The role of the cardiovascular response of the recipient twin offers the potential for further refining the application of our current treatment modalities and may offer insight into future therapies. The optimal therapy at this point in time resides clearly with selective laser photocoagulation, and further refinements of techniques and patient selection may continue to improve outcomes. Finally, the in-utero responses generated by the fetuses to the physiologic stress of twin-to-twin transfusion may influence their response or ability to respond to cardiovascular stress in later life. If there is in-utero programming, then the detection and timely treatment of conditions such as twin-twin transfusion syndrome may have lifelong implications for both members of the twin pair.
Seminars in Fetal and Neonatal Medicine 07/2009; 15(1):15-20. · 3.91 Impact Factor
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ABSTRACT: Symptomatic congenital lung lesions require surgical resection, but the management of asymptomatic lung lesions is controversial. Some surgeons advocate observation because of concerns about potential operative morbidity and mortality, as well as a lack of long-term follow-up information. On the other hand, malignant degeneration, pneumonia, and pneumothorax are known consequences of cystic lung lesions. This study aims to assess the safety of resection for asymptomatic lung lesions that were diagnosed before birth.
A retrospective review of all patients with prenatally diagnosed lung lesions at Children's Hospital of Philadelphia (Philadelphia, Penn) was performed from 1996 to 2005. The perioperative course of patients who were asymptomatic was analyzed.
One hundred five complete records of children with asymptomatic lesions were reviewed. Overall mortality was 0% and morbidity was 6.7% including 2.9% significant postoperative air leak and 3.8% transfusion requirement. Nine patients had a pathologic diagnosis that differed from preoperative radiological findings, and 9 patients had additional pathologic findings.
This series demonstrates that surgery can be performed safely on patients who were asymptomatic with congenital cystic adenomatoid malformation of the lung and other types of lung lesions with no mortality and minimal morbidity. The frequency of disparate pathologic diagnoses and the potential for development of malignancy and other complications support the argument for early resection.
Journal of Pediatric Surgery 04/2008; 43(3):513-7. · 1.45 Impact Factor
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ABSTRACT: To review pregnancy and childhood outcomes following selective termination by ultrasound guided bipolar umbilical cord cauterization (UCC) in complicated monochorionic multifetal pregnancies.
Consenting patients (27 of 49, 55%) had review of pregnancy history and pediatric development in the surviving twin following selective UCC.
UCC was performed at 21.2 +/- 2.8 weeks gestational age, followed by a liveborn delivery (n = 28) at 34.4 +/- 4.7 weeks. Mean birth weight was 2,218 +/- 926 g. Complications included preterm labor (25.0%), premature rupture of membranes (17.8%), placental abruption (10.7%) and chorioamnionitis (7.1%). Perinatal mortality was 10.3% in continuing fetuses. However, 96.2% of pregnancies achieved livebirths with 96% of neonates showing apparently normal development between ages 1.5 and 5 years.
Bipolar UCC is a reasonably safe and effective treatment for selective termination in complicated monochorionic pregnancies.
Fetal Diagnosis and Therapy 02/2008; 23(2):153-8. · 1.05 Impact Factor
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ABSTRACT: Current means of grading twin-twin transfusion syndrome does not characterize cardiovascular aspects adequately. We sought to develop a score that describes the magnitude of cardiovascular severity in twin-twin transfusion syndrome.
Fetal echocardiograms of 150 monochorionic/diamniotic twins were reviewed. Blinded to Quintero stage, we applied a cardiovascular score to each twin set and compared it to the Quintero grade. The score is a composite of variables that include ventricular hypertrophy, dilation, function, valve regurgitation, great artery size, and diastolic properties in the recipient and umbilical artery flow in the donor. Doppler indices of vascular and ventricular function were measured.
Mean age was 21 +/- 3 weeks. Discrepancy was noted in degree of severity between Quintero and cardiovascular stages. The score correlated well with myocardial performance index of the recipient right ventricle (r2 = .65).
We describe the spectrum of cardiovascular abnormalities that are seen in twin-twin transfusion syndrome and propose a scoring system for assessment of severity.
American journal of obstetrics and gynecology 11/2007; 197(4):392.e1-8. · 3.28 Impact Factor
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ABSTRACT: A fetus with large sac S1 myelomeningocele (MMC) but bilateral talipes prompted the question, 'Does the presence or size of an MMC sac affect postnatal leg function?'
An MMC database with prenatal, birth, and a minimum of 1-year follow-up evaluation was reviewed. All fetuses had in-utero MMC repair at 20 + 0 to 25 + 6 weeks at a single institution. Fifty-four fetuses had prenatal evaluation, with 48 children completing a birth and a 1-year evaluation of leg function.
An MMC sac was present in 38/54 (70%) of fetuses evaluated in-utero and had been present in 35/48 (73%) of children evaluated at 1 year of age. Although leg function evaluated at 1 year was better than expected in the 'no sac' group (p = 0.059), this did not reach statistical significance.
The presence of an MMC sac may increase postnatal lower limb morbidity.
Fetal Diagnosis and Therapy 02/2007; 22(5):348-51. · 1.05 Impact Factor
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ABSTRACT: To examine the impact of fetal myelomeningocele (MMC) repair on fetal head biometry and cerebrospinal fluid (CSF) spaces assessed by magnetic resonance imaging (MR) studies.
Axial measurements of intracranial structures were taken at defined anatomical landmarks. Pre- and postnatal head biometry data and CSF spaces obtained from in utero repaired MMC fetuses (n = 22) were compared to the pre- and postnatal measurements of MMC patients that underwent standard neurosurgical MMC repair after birth (n = 16) and a cohort of age-matched control patients (prenatal, n = 52; postnatal, n = 9).
In fetuses with MMC, initial MR scans showed an almost complete absence of supratentorial and posterior fossa CSF spaces. No differences in postnatal CSF spaces were found between controls and prenatally repaired MMC newborns. In fetuses with postnatal MMC repair, CSF spaces remained significantly reduced (p < 0.0001). The mean ventricular diameter (VD) increase in the postnatal repaired MMC group was significantly higher compared to the mean percentage of VD increase in the fetal repaired MMC group (6.4 vs. 4.2 mm; p = 0.02). Pre- and postnatal brain thickness measurements were significantly reduced in both MMC populations compared to age-matched normal values (p < 0.0001). In contrast to postnatally repaired patients, in utero repair fetuses showed significant reversal of hindbrain herniation and normalization of the posterior fossa CSF spaces.
Mid-gestational repair of MMC promotes normalization of extra-axial CSF spaces. Due to progressive ventriculomegaly, brain thickness remains decreased in both prenatal repaired and age-matched non-repaired MMC patients when compared to age-matched normal values. Restoration of CSF volume in the posterior fossa after in utero repair is indicative of reversal of hindbrain herniation.
Fetal Diagnosis and Therapy 01/2007; 22(1):1-6. · 1.05 Impact Factor
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ABSTRACT: Case report and literature review for congenital pulmonary lymphangiectasis (CPL) CASE REPORT: Male fetus with bilateral pleural effusion, thoracoamniotic shunt, preterm delivery, and prolonged neonatal course with neonatal death at 3 months. Autopsy-identified CPL.
Review of pathology, clinical course, and genetics of CPL.
This postnatal diagnosis of CPL/Hennekam syndrome must be considered with prenatal counseling regarding a fetus with bilateral pleural effusions. This pathological entity is autosomal recessive and has a significant risk of lethality.
Prenatal Diagnosis 12/2006; 26(11):1058-61. · 2.11 Impact Factor
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ABSTRACT: Prenatal identification of lung abnormalities has increased with prenatal surveillance. Treatment usually requires serial ultrasound observation but in rare situations in utero therapy may be required for fetal survival. We review the genetics, prenatal evaluation, and treatment of lung abnormalities with congenital cystic adenomatoid malformation (CCAM). Other lung lesions, bronchopulmonary sequestration (BPS), hybrid lesions involving both malformations, congenital lobar emphysema (CLE), are briefly included as differential diagnosis options. Outcome of fetuses identified to have CCAM lung abnormalities resulting in fetal hydrops and having in utero therapy (thoracoamniotic shunting, fetal thoracotomy, EXIT delivery) are discussed. In the appropriate situation, this maternal fetal surgery approach for CCAM is life-saving for the affected fetus with acceptable maternal morbidity risks in the present and future pregnancies.
American Journal of Medical Genetics Part A 02/2006; 140(2):151-5. · 2.39 Impact Factor
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ABSTRACT: Despite the increasing use of magnetic resonance (MR) for fetal imaging, few studies have addressed the MR appearance of the normal placenta. The goal of this paper is to describe the MR features and thickness of the normal placenta during the second and early third trimester of gestation, based on a retrospective study comparing MR with the reference standard of obstetric imaging, ultrasound.
Clinical imaging 35(5):371-7. · 0.73 Impact Factor
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ABSTRACT: In this chapter we review the current status of early detection of congenital heart disease in the first trimester of pregnancy. There is an increasing demand for earlier diagnosis of congenital heart disease. Early fetal echocardiography is feasible and there are a number of complex diagnoses that can be made in early pregnancy. At present a follow-up second trimester ultrasound is required in all cases of on-going pregnancies. Early fetal echocardiography should be considered for fetuses at risk. For fetuses with an increased NT measurement, early fetal echocardiography should be reserved for those with a normal karyotype. Routine screening for structural heart disease should continue to be performed in the second trimester. Programs specializing in the early diagnosis of congenital heart disease should be confined to a small number of highly specialized institutions.
Progress in Pediatric Cardiology.
