Center for Prenatal Diagnosis

Indianapolis, IN, United States

Center for Prenatal Diagnosis

Indianapolis, IN, United States

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Moore E.S.,St Vincent Womens Hospital | Foster T.L.,St Vincent Womens Hospital | McHugh K.,Indiana University | Addleman R.N.,St Vincent Hospital | And 2 more authors.
Journal of Obstetrics and Gynaecology | Year: 2012

The use of cerclage, either through vaginal or abdominal routes, to assist in delaying pre-term delivery among select women with cervical insufficiency may be beneficial, but can also carry significant morbidity. Robotic-assisted transabdominal cervical cerclage (RoboTAC) in the non-pregnant patient has the ability to not only reduce associated morbidity, but also offer the same benefits as the more traditional laparotomy and laparoscopic approaches, while removing the risk to an in situ fetus. We report the use of robotic-assisted transabdominal cervical cerclage in 24 non-pregnant women. Feasibility of the procedure is discussed along with a description of the technical surgical details. In addition, limited pregnancy outcomes are presented. Our results suggest that RoboTAC is a safe alternative to the traditional laparotomy procedure with quicker recovery time. © 2012 Informa UK, Ltd.


Gavvovidis I.,University of Würzburg | Pohlmann C.,Charité - Medical University of Berlin | Marchal J.A.,Charité - Medical University of Berlin | Marchal J.A.,University of Jaén | And 7 more authors.
Cell Cycle | Year: 2010

Mutations in the MCPH1 gene cause primary microcephaly associated with a unique cellular phenotype of misregulated chromosome condensation. The encoded protein contains three BRCT domains, and accumulating data show that MCPH1 is involved in the DNA damage response. However, most of this evidence has been generated by experiments using RNA interference (RNAi) and cells from non-human model organisms. Here, we demonstrate that patient-derived cell lines display a proficient G2/M checkpoint following ionizing irradiation (IR) despite homozygous truncating mutations in MCPH1. Moreover, chromosomal breakage rates and the relocation to DNA repair foci of several proteins functioning putatively in an MCPH1-dependent manner are normal in these cells. However, the MCPH1-deficient cells exhibit a slight delay in re-entering mitosis and delayed resolution of γH2AX foci following IR. Analysis of chromosome condensation behavior following IR suggests that these latter observations may be related to hypercondensation of the chromatin in cells with MCPH1 mutations. Our results indicate that the DNA damage response in human cells with truncating MCPH1 mutations differs significantly from the damage responses in cells of certain model organisms and in cells depleted of MCPH1 by RNAi. These subtle effects of human MCPH1 deficiency on the cellular DNA damage response may explain the absence of cancer predisposition in patients with biallelic MCPH1 mutations. © 2010 Landes Bioscience.


Sumners J.E.,St Vincent Womens Hospital | Sumners J.E.,Center for Prenatal Diagnosis | Moore E.S.,St Vincent Womens Hospital | Ramsey C.J.,Curtis Ramsey and Associates | And 2 more authors.
Journal of Obstetrics and Gynaecology | Year: 2011

There are no reports indicating the effect of prophylactic transabdominal cerclage (TAC) on the prolongation of multifetal pregnancies. We report the use of TAC in triplets, which evolved over 20 years in one practice. A retrospective cohort study of triplet pregnancies was conducted. Obstetric and neonatal outcomes were compared among women who underwent a prophylactic TAC or transvaginal cerclage and no cerclage. Of the 141 women who delivered triplets, prophylactic TAC was associated with reduced incidence of extreme prematurity and improved incidence of neonatal/postnatal survival. With the exception of mode of conception, prepregnancy weight, and the use of home monitoring uterine activity monitor, procardia and terbutaline, no major differences were found in terms of patient characteristics and pregnancy and delivery management among the three groups. It was concluded that in triplet pregnancies, prophylactic placement of a TAC appears to lower the incidence of delivery before 28 weeks. © 2011 Informa UK, Ltd.


Foster T.L.,St Vincent Womens Hospital | Moore E.S.,St Vincent Womens Hospital | Sumners J.E.,St Vincent Womens Hospital | Sumners J.E.,Center for Prenatal Diagnosis
Journal of Obstetrics and Gynaecology | Year: 2011

This retrospective cohort study identifies complications associated with transabdominal cerclage (TAC). In 300 procedures performed over a 24 year time span, 11 (3.7%) surgical complications were encountered. Fetal loss (prior to 20 weeks) occurred in 4.1% of pregnancies. The median estimated blood loss among patients was 100 ml, with blood loss sufficient to require transfusion only once. Considering patients with classical indications, the gestational age at delivery was greater (37 weeks) after TAC than in the latest pre-TAC pregnancy (24 weeks) (p < 0.001). Lower uterine dehiscence in four patients and uterine rupture in one, underscore the advisability of early term delivery after fetal lung maturity is assured. A survival rate of 98.0% was calculated among infants that were delivered at >24 weeks' gestation. Our results demonstrate that complications encountered in placing a TAC were unusual and generally manageable. This communication may assist the surgeon to balance risks in individual clinical circumstances more adequately. © 2011 Informa UK, Ltd.


Vissers L.E.L.M.,Radboud University Nijmegen | Lausch E.,University Hospital Freiburg | Unger S.,University Hospital Freiburg | Unger S.,University of Lausanne | And 15 more authors.
American Journal of Human Genetics | Year: 2011

We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, a Golgi-resident nucleotide phosphatase that hydrolyzes phosphoadenosine phosphate (PAP), the byproduct of sulfotransferase reactions, to AMP. The mutations affected residues in or adjacent to the phosphatase active site and are predicted to impair enzyme activity. A fourth unrelated patient was subsequently found to be homozygous for a premature termination codon in IMPAD1. Impad1 inactivation in mice has previously been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation. The human chondrodysplasia associated with gPAPP deficiency joins a growing number of skeletoarticular conditions associated with defective synthesis of sulfated proteoglycans, highlighting the importance of proteoglycans in the development of skeletal elements and joints. © 2011 The American Society of Human Genetics.


Karl K.,Center for Prenatal Diagnosis | Sinkovskaya E.,Eastern Virginia Medical School | Abuhamad A.,Eastern Virginia Medical School | Chaoui R.,Center for Prenatal Diagnosis and Human Genetics
Ultrasound in Obstetrics and Gynecology | Year: 2016

Objective: The left brachiocephalic vein (LBCV), or innominate vein, connects the left jugular vein to the right superior vena cava. Its course is posterior to the thymus and directly anterior and superior to the aortic arch. Pediatric and adult cardiology studies have reported on the subaortic or retrotracheal courses of the LBCV and the presence of double LBCV. We observed recently in the fetus that the LBCV may have a course through the thymus (intrathymic) or be absent in the presence of a left superior vena cava. The aim of this study was to report the prevalence of isolated intrathymic and absent LBCV in normal fetuses undergoing second-trimester ultrasound screening, as well as the prevalence of other courses in association with cardiac anomalies. Methods: In the prospective part of this study, consecutive second-trimester ultrasound examinations were evaluated to assess the presence and course of the fetal LBCV. In the retrospective case–control part of this study, the databases of two fetal medicine centers were reviewed for cardiac anomalies and the pattern and prevalence of anomalous courses of the LBCV were reported. Results: One thousand four hundred and eighteen consecutive fetuses were examined prospectively. An intrathymic course of the LBCV with a typical bent shape was found in 1.76% (1 : 57) of cases and the absence of a LBCV in association with a persistent left superior vena cava (LSVC) was found in 0.28% (1 : 350). All fetuses with an isolated intrathymic course or absence of the LBCV had a normal outcome. Over a period of 4.5 years, a total of 1544 fetuses with cardiac malformations were reviewed at two centers. Among these, an anomalous course of the LBCV was noted in eight (0.5%) cases: six subaortic, one retrotracheal and one double LBCV. Conclusion: An intrathymic LBCV is a common condition and appears to be a normal variant in the fetus. The prevalence of a LSVC in our screening population was similar to that reported in previous studies. Anomalous courses of the LBCV are seen occasionally in cases with cardiac malformation. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.


Orlandi E.,University of Palermo | Rossi C.,Center for Prenatal Diagnosis | Perino A.,University of Palermo | Musico G.,Center for Prenatal Diagnosis | Orlandi F.,Center for Prenatal Diagnosis
Prenatal Diagnosis | Year: 2014

Objectives: Our aim was to assess the accuracy of a simplified fetal cardiac study, inclusive of four-chamber view (4CV) and ventricular outflow tracts, performed during the 11-14week screening by well-trained obstetricians to detect congenital heart diseases (CHDs). Methods: A transabdominal ultrasound was performed on 4820 singleton pregnant women at 11-14weeks to visualize the visceral site, the 4CV, and the outflow tracts. Neonatal outcomes were recorded 6 and 12months after birth. Results: Among the 4820 patients reviewed, 790 were excluded because of loss at prenatal or postnatal follow-up (649 cases), or inability to obtain adequate first-trimester sonographic cardiac evaluation (141 cases). Among the 4030 included cases, 32 CHD cases were detected (20 major and 12 minor); 18 of the major (90%) and five of the minor (42%) were detected or suspected in the first trimester, one major and six minor in the second trimester, and one major and one minor only after birth. Conclusions: A simplified protocol is an effective tool to screen for CHD at 11-14weeks. © 2014 John Wiley & Sons, Ltd.


PubMed | Center for Prenatal Diagnosis and Human Genetics, Eastern Virginia Medical School and Center for Prenatal Diagnosis
Type: Journal Article | Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology | Year: 2016

The left brachiocephalic vein (LBCV), or innominate vein, connects the left jugular vein to the right superior vena cava. Its course is posterior to the thymus and directly anterior and superior to the aortic arch. Pediatric and adult cardiology studies have reported on the subaortic or retrotracheal courses of the LBCV and the presence of double LBCV. We observed recently in the fetus that the LBCV may have a course through the thymus (intrathymic) or be absent in the presence of a left superior vena cava. The aim of this study was to report the prevalence of isolated intrathymic and absent LBCV in normal fetuses undergoing second-trimester ultrasound screening, as well as the prevalence of other courses in association with cardiac anomalies.In the prospective part of this study, consecutive second-trimester ultrasound examinations were evaluated to assess the presence and course of the fetal LBCV. In the retrospective case-control part of this study, the databases of two fetal medicine centers were reviewed for cardiac anomalies and the pattern and prevalence of anomalous courses of the LBCV were reported.One thousand four hundred and eighteen consecutive fetuses were examined prospectively. An intrathymic course of the LBCV with a typical bent shape was found in 1.76% (1:57) of cases and the absence of a LBCV in association with a persistent left superior vena cava (LSVC) was found in 0.28% (1:350). All fetuses with an isolated intrathymic course or absence of the LBCV had a normal outcome. Over a period of 4.5years, a total of 1544 fetuses with cardiac malformations were reviewed at two centers. Among these, an anomalous course of the LBCV was noted in eight (0.5%) cases: six subaortic, one retrotracheal and one double LBCV.An intrathymic LBCV is a common condition and appears to be a normal variant in the fetus. The prevalence of a LSVC in our screening population was similar to that reported in previous studies. Anomalous courses of the LBCV are seen occasionally in cases with cardiac malformation. Copyright 2015 ISUOG. Published by John Wiley & Sons Ltd.


PubMed | Center for Prenatal Diagnosis and Human Genetics, Center for Prenatal Diagnosis and Eastern Virginia Medical School
Type: Journal Article | Journal: Prenatal diagnosis | Year: 2016

The cavum septi pellucidi (CSP) is an easily recognizable landmark in the fetal brain. CSP disappears after birth to form the septum pellucidum. Children with microdeletion 22q11 (del. 22q11) were, however, reported to have a persistent dilated CSP. This study was designed to examine whether the CSP is dilated in fetuses with del.22q11.This was a case-control study where the CSP width was measured in normal fetuses from 16 to 34weeks and in fetuses with del. 22q11. CSP width was correlated to the biparietal diameter (BPD). Reference curves were constructed, and z-scores calculated.Cavum septi pellucidi width in 260 normal fetuses showed a linear correlation with BPD. The study group consisted of 37 fetuses with del. 22q11. In 25/37 (67.5%) of fetuses with del. 22q11, the CSP was enlarged with a mean z-score of 2.64 (p<0.0001). Fetuses with a BPD>50 mm (>22 weeks of gestation) had a dilated CSP in 85.7% (24/28).The CSP is a structure routinely evaluated in screening ultrasound. A wide CSP is found in second trimester fetuses with del. 22q11. A dilated CSP may be an important sonographic marker for the presence of del. 22q11 along with conotruncal malformations and thymic hypoplasia. 2016 John Wiley & Sons, Ltd.


PubMed | University of P.J. Šafarik, Center for Prenatal Diagnosis and Railway Hospital
Type: Case Reports | Journal: Neuro endocrinology letters | Year: 2015

Adenocarcinoma of the colon represents the third most frequent cause of death from cancer, being surpassed only by lung and stomach cancer. Early screening and diagnosis of polyps are important for a good prognosis. Based on a clinical case, a novel approach is presented for screening of sigmoidal polyps and neoplasia using transvaginal 2D, 3D mode in women. This novel and simple technique can be used to visualize the sigmoid diverticula during routine gynecological examination via 3D transvaginal ultrasound probe.

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