A. Schröer

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation.

Arthrogryposis Multiplex Congenita and Pena-Shokeir Phenotype: Challenge of Prenatal Diagnosis – Report of 21 Cases, Antenatal Findings and Review

Objective: To elaborate the antenatal sonographic findings of fetuses with the suspicion of fetal akinesia, thereby focusing on the accuracy of prenatal differentiation between subtypes of fetal akinesia, namely Pena-Shokeir phenotype (PSP) and arthrogryposis multiplex congenita (AMC). Methods: We herein present our experience of 21 patients with PSP and AMC diagnosed antenatally at a tertiary prenatal referral center. During the study period 30,485 consecutive high- and low-risk pregnancies were examined. The prenatal sonograms, pediatric charts and autopsy data of affected individuals were reviewed. Our findings were analyzed together with findings retrieved from the literature. Results: The diagnosis of AMC has been established between 12+0 and 30+1 gestational weeks, whereas cases found to have PSP were all diagnosed in advanced pregnancy. In accordance to previous findings, our data suggest that pulmonary hypoplasia is obligatory in PSP and cannot be found in AMC. Therefore, all pregnancies (9/9) affected by PSP were terminated on parental request. Of those fetuses with AMC, 3/12 were liveborn, 2 of which have neuromotoric disabilities. Conclusions: Establishing the correct prenatal diagnosis of PSP and AMC at an early stage and its diligent prognostic evaluation play a crucial role in order to provide adequate advice to the afflicted parents and to enable appropriate intervention at an early stage.

Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.

Cornelia de Lange syndrome (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by facial dysmorphism, upper limb deformities, and mental retardation. We report on two subsequent pregnancies with antenatally diagnosed CdLS at 23 and 14 gestational weeks, respectively, of an otherwise healthy gravida. Molecular genetic testing revealed a rare case of gonadal mosaicism of a nonsense NIPBL gene mutation.

Foetal rhabdomyosarcoma with massive cardiac and placental infiltration associated with intrauterine foetal death

Rhabdomyosarcoma is a common malignant soft-tissue tumour in children, accounting for 6-7% of all malignant tumours in childhood. Congenital neoplasms are very rare in childhood and represent 2.5% of all paediatric tumours; the intrauterine or congenital diagnosis of rhabdomyosarcomas is extremely seldom. The most frequent locations of rhabdomyosarcomas are the head and neck regions. There are a number of ultrasonographic differential diagnoses. In cases of foetal rhabdomyosarcomas in utero, not only distant metastases but also the possibility of placental infiltration and thus of hypothetical distant metastases in the mother must be taken into consideration because of their metastatic potential. Only very few cases of transplacental penetration of tumour cells and especially of foeto-maternal metastatic invasion, in contrast to materno-foetal tumour cell transfer in the case of maternal cancer disease, have been reported in the literature. We report on a foetal rhabdomyosarcoma of the head and neck area with massive cardiac and placental infiltration associated with intrauterine foetal death in the second trimester. Sonographic features and necropsy findings are described and the differential diagnosis is discussed. Furthermore, diagnostic approaches to rule out a pattern of transplacental metastases are presented.

Three- and Four-Dimensional Ultrasound in the Diagnosis of Fetal Tetralogy of Fallot With Absent Pulmonary Valve and Microdeletion 22q11

Tetralogy of Fallot (TOF) with concomitant absent pulmonary valve syndrome (APVS) constitutes a rare prenatal condition characterized by rudimentary cusps of the pulmonary valve, pulmonary regurgitation, and a variable degree of dilatation of the main and branch pulmonary arteries. Although early prenatal diagnosis of this complex malformation is feasible, the antenatal course of affected fetuses clearly depends on the presence of associated structural (absence of the ductus venosus) and chromosomal anomalies (microdeletion 22q11, DiGeorge syndrome). Postnatally, the outcome is closely related to the degree of airway obstruction and subsequent bronchomalacia. We describe the beneficial contribution of three- and four-dimensional ultrasound in establishing the diagnosis of TOF-APVS in a fetus at age 22 gestational weeks.

P30.03: Fetal meconiumperitonitis: common and uncommon antenatal findings

(below/above 34 weeks), and 83 controls paired by maternal age and gestational age at scan with cases. Longitudinal clips of the far wall of both carotid arteries were obtained approximately 1 cm proximal to the bifurcation with a 13-MHz linear-array transducer and cIMT was measured offline using a trace method (Siemens Syngo Arterial Health Package) by averaging maximum IMT for both carotids. Results: Carotid IMT was significantly increased in both earlyand late-onset PE as compared to controls (controls: mean 0.518 mm (SD 0.06); early PE: 0.546 mm (0.07); late PE: 0.565 mm (0.06); P = 0.026) with a tendency to worse results in late-onset cases. All measurements remained significant even after adjustment by maternal age and ethnicity. Conclusions: Our results are consistent with mothers with PE presenting an increased cardiovascular risk. Future studies are warranted to assess the potential utility of cIMT assessment to select to mothers at higher risk that may benefit from preventive strategies.

OP35.02: Prenatal detection of congenital heart defects is hampered by overweight and obesity: review on 19,687 pregnant women

Objectives: 3D transperineal ultrasound (3DTUS) examination performed in women following III◦ or IV◦ intrapartum tears repaired with the overlapping technique demonstrates characteristic sonographic signs. The aim of the present study was to examine the possible correlation of these signs with clinical complaints of incontinence. Methods: Prospective observational study. 60 primiparous women underwent 3DTUS follow up 3–42 months after surgical repair of III◦ or IV◦ postpartum sphincter tears with overlapping technique and were evaluated for clinical degree of incontinence with the St. Mark’s incontinence score (SMIS) questionnaire. 27 primiparous women after normal vaginal delivery, without clinically recognized anal sphincter tears, were similarly evaluated 3–37 months postpartum as a comparison group. Results: Sonographic signs were apparent in 35/60 (58.3%) women; 39/60 (65%) had some clinical complaints of incontinence 3–42 months after delivery, most of mild degree. Rates of incontinence were similar between the late examination group with normal U/S and the comparison group (9/25 vs. 10/27, respectively, RR 0.97, 95% CI 0.47–1.97). Significantly higher rate of clinical complaints was found in women with abnormal US (RR 2.38, 95% CI, 1.49–4.29). Conclusions: Sonographic signs of anal sphincter tear and repair disappeared in almost half of patients: this examination should be deferred from the early postpartum period. A substantial proportion of women after sphincter repair report some complaint of incontinence, most of slight degree. Such complaints are associated with abnormal late 3DTUS findings, while in women with normal late 3DTUS the rate of incontinence complaints is similar to women after normal delivery.

Contents Vol. 30, 2011

R. Achiron, Tel Hashomer N.S. Adzick, Philadelphia, Pa. L. Allan, London A.A. Baschat, Baltimore, Md. K.J. Blakemore, Baltimore, Md. T.-H. Bui, Stockholm F.A. Chervenak, New York, N.Y. T. Chiba, Tokyo F. Crispi, Barcelona J.E. De Lia, Milwaukee, Wisc. J.A. Deprest, Leuven G.C. Di Renzo, Perugia J.W. Dudenhausen, Berlin N.M. Fisk, Brisbane, Qld. A.W. Flake, Philadelphia, Pa. U. Gembruch, Bonn M.R. Harrison, San Francisco, Calif. J.C. Hobbins, Denver, Colo. L.K. Hornberger, San Francisco, Calif. E.R.M. Jauniaux, London M.P. Johnson, Philadelphia, Pa. C. Jorgensen, Copenhagen J.-M. Jouannic, Paris P.M. Kyle, London O. Lapaire, Basel S. Lipitz, Tel-Hashomer G. Malinger, Holon G. Mari, Detroit, Mich. M. Martinez-Ferro, Buenos Aires K.J. Moise, Houston, Tex. K.H. Nicolaides, London D. Oepkes, Leiden L. Otaño, Buenos Aires Z. Papp, Budapest R. Quintero, Miami G. Ryan, Toronto J. Rychik, Philadelphia, Pa. H. Sago, Tokyo W. Sepulveda, Santiago P. Stone, Auckland D.V. Surbek, Bern B.J. Trudinger, Westmead, N.S.W. J.M.G. van Vugt, Amsterdam Y. Ville, Paris Clinical Advances and Basic Research

P34.14: Brachmann‐de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation

Sirenomelia is a very rare lethal congenital malformation of unknown etiology. The incidence varies from 0.1 to 0.47/10.000 live births, with a male to female ratio of 3 : 1. To date only 13 cases diagnosed in the first trimester have been reported in the literature. We report the prenatal diagnosis of sirenomelia in a 27 year old woman, gravida 1, who was referred in the 12th week of gestation because of an intraabdominal cystic structure seen on ultrasound in her local clinic. The mother’s family history was noncontributory; she had been treated with levonorgestrel 80 hours after sexual intercourse and with sulfamethoxazole/trimethoprim 14 days after conception because of urinary tract infection. First-trimester scan at 12+4 weeks gestation revealed a malformed fetus with apus (one femur, one small tibia and no feet), intraabdominal unilocular cystic structure measuring 10.8 × 7.3 mm, two-vessel umbilical cord with allantoic cyst measuring 10 mm in diameter. Nuchal translucency measured 1.78 mm, nasal bone was present. Amniotic fluid volume was normal. Prior to termination we performed the chorionic villi vacu-sampling (normal karyotype 46,XY). Transcervical fetoscopy confirmed the ultrasound diagnosis. 3D/4D ultrasound imaging can be advantageous in the process of parental counselling. We suppose that the anomaly could have been associated with the trimethoprim exposure, because of its blocking effect on folic acid.

OP28.02: Antenatal diagnosis of skeletal anomalies: a review of 246 subsequent cases

J. Weichert1, S. Gartner1, A. Schroer1, F. Amari1, D. R. Hartge1, M. Krapp5, U. Germer4, U. Gembruch3, R. Axt-Fliedner2 1Dept. of Ob/Gyn, Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Luebeck, Germany; 2Dept. of Ob/Gyn, Division of Prenatal Medicine, University Hospital Giessen and Marburg, Giessen, Germany; 3Department for Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany; 4Ob/GYN, Caritas Hospital St. Josef, Regensburg, Germany; 5Endokrinologikum Hamburg, Hamburg, Germany