Outcome of intrahepatic portosystemic shunt diagnosed prenatally.

We analyzed the characteristics of the population with congenital portosystemic shunt diagnosed during the antenatal period and the organization of their perinatal care. This multicentric retrospective study included all the patients with a prenatal diagnosis of congenital portosystemic shunt. Between 1999 and 2015, 12 patients were included. Prenatal diagnosis was done at a median 26.5 weeks of gestation (21-34). All the patients presented intrahepatic CPSS, three of them had associated congenital cardiopathy, and one a Bannayan-Zonana syndrome. Ten patients had simple outcome on conservative treatment, eight of them having a spontaneous closure of their portosystemic shunt within the first 2 years of life. One patient had surgical treatment which failed and he developed a focal nodular hyperplasia. Another patient had radiological interventional closure of his shunt which was complicated by a venal portal thrombosis. CONCLUSION: Outcome of intrahepatic portosystemic shunt diagnosed prenatally is good in the majority of cases. What is known: • Multiples studies exist on congenital porto systemic shunt but when the diagnosis is done after birth. • The evolution, management, and complication are well known. What is new: • There is very few studies with only patients diagnosed in antenatal and it is a large series of cases. • Outcome of intrahepatic portosystemic shunt diagnosed prenatally is good in the majority of cases.

First-trimester hand measurements in euploid and aneuploid human fetuses using virtual reality.

OBJECTIVE: Although second-trimester and third-trimester reference curves for human fetal hand growth allow for identification of several genetic syndromes, little is known about first-trimester hand growth. We investigated first-trimester hand growth in euploid and aneuploid fetuses. METHOD: Between 9 and 12 weeks' gestational age (GA), wrist width, hand width, hand length, and hand index were measured in three-dimensional (3D) ultrasound datasets of 112 euploid and 65 aneuploid pregnancies. We constructed reference curves for these measurements in euploid pregnancies and calculated z-scores for measurements in aneuploid pregnancies. Reproducibility was established in a subset of 20 datasets. RESULTS: While wrist width, hand width, and hand length increased with gestational age, hand index decreased. Intraobserver and interobserver intraclass correlation coefficient values were >0.97. In trisomy 21 cases, wider wrists and hands were observed compared with euploid pregnancies (mean z-scores 1.06, SD 2.04, p < 0.001 and 1.16, SD 1.30, p < 0.001, respectively). Trisomy 18 cases showed narrower and shorter hands (mean z-scores -0.74, SD 1.20, p = 0.009 and -0.97, SD 0.86, p = 0.005, respectively). In trisomy 13 cases, no differences were observed. CONCLUSION: Reference values are available for first-trimester studies on human hand development. First-trimester hand measurements in trisomies 21 and 18 differ significantly from those in euploid pregnancies and may be useful for early identification of abnormal development.

New first-trimester crown-rump length equations from a French general population.

INTRODUCTION: The purpose of this study was to obtain precise knowledge of fetal biometric measurements, in particular crown-rump length (CRL). Our results have been carefully compared to equations found in the literature. MATERIALS AND METHODS: Single-operator measurements of 2,123 spontaneous pregnancies from a general French population provided new statistical relationships between fetal age (FA) and CRL. Comparisons were made with measurements obtained from 402 in vitro fertilizations (IVFs) for which FA were known. Heteroskedastic and robust regressions were compared by cross-validation, and prediction errors were studied. All ultrasound measurements were taken during standard follow-ups of pregnancies, without any additional features. RESULTS: From a cleaned subsample of 513 spontaneous pregnancies, we reported good modeling of first-term embryonic growth, with equations and predictions of standard deviations agreeing with objective datations for IVFs. Most precise CRL measurements were predicted for FA of 49 days. DISCUSSION: Our results allow future detection of fetal growth abnormalities using Z-scores throughout the first trimester.

Abnormal number of fetal ribs on 3-dimensional ultrasonography: associated anomalies and outcomes in 75 fetuses.

OBJECTIVE: The purpose of this study was to describe the clinical importance of an abnormal number of fetal ribs. METHODS: A retrospective study of all fetuses that were found to have an abnormal number of ribs during routine ultrasonographic examinations was performed. Volume data sets of the fetal ribs were acquired by either static 3- or 4-dimensional volume contrast imaging in plane C. In all cases, a meticulous survey of the fetal anatomy was performed, and prenatal and postnatal records were reviewed. RESULTS: Seventy-five fetuses were found retrospectively to have an abnormal number of ribs. Ultrasonographic examinations were done between 14 and 31 weeks' gestation (mean, 21.8 weeks; median, 23 weeks). More than 24 ribs were found in 28 fetuses (37%), and fewer than 24 ribs were found in 47 (63%). Additional anomalies were found in 22 fetuses (29%). Cardiovascular anomalies were detected in 10 fetuses. Seven fetuses had renal anomalies. Two fetuses had mild ventriculomegaly, and 1 fetus had holoprosencephaly. Lung dysplasia was found in 2 cases. One fetus had enlarged nuchal translucency with wormian bones. Termination of pregnancy was performed in 3 cases because of major malformations. The other 19 fetuses with associated abnormalities and the 53 without associated anomalies were born alive with only minor anomalies. CONCLUSIONS: An abnormal number of fetal ribs is an isolated finding in most cases. It may also be seen with major anomalies; however, more frequently the anomalies are minor, and the overall prognosis is good.

Three-dimensional sonographic evaluations of embryonic brain development.

OBJECTIVE: The purpose of this presentation is to show 3-dimensional development of the ventricles of the brain in early pregnancy, from 6 to 13 weeks, and to provide a reference for early diagnosis of central nervous system anomalies such as hydrocephalus and holoprosencephaly. METHODS: From March 2007 to August 2007, 46 patients were included. All patients had routine first-trimester 2- and 3-dimensional sonographic examinations at the same time. All cases were examined with a Voluson 730 Expert or Voluson E8 ultrasound scanner (GE Healthcare, Milwaukee, WI) using a 4- to 8- or 6- to 12-MHz transvaginal probe. Volumes were reviewed and analyzed with GE 4DView release 6 software. After the inversion-rendering mode was selected, volumes were dissected by the MagicCut function to show the ventricles. RESULTS: A total of 34 volumes from 7 to 12 complete gestational weeks were successfully dissected. Those before 7 and after 12 weeks could not be dissected properly. The crown-rump length ranged from 12.7 to 68 mm. Twelve representative images of the rendered volumes in chronologic order are shown. The brain volume dissections of 2 fetuses with ventriculomegaly and alobar holoprosencephaly are shown for comparison. CONCLUSIONS: Early human brain ventricular structures could be evaluated in vivo with 3-dimensional sonography. This presentation shows the timeline of brain development and provides reference images to compare possible anomalies of development.

Acrocallosal syndrome in fetus: focus on additional brain abnormalities.

Acrocallosal syndrome (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, syndactyly and severe mental retardation. Here we report the two first descriptions of acrocallosal syndrome in fetus with extensive neuropathological study and provide new data regarding additional brain abnormalities in ACS. The first case was a 25-gestational week male fetus displaying craniofacial and limb abnormalities, with bilateral syndactyly of the fourth and fifth fingers, preaxial polydactyly of the left foot and an inter-frontal extra-bone. The second fetus was a 33-gestational week male fetus. His left hand displayed a broad thumb and 4/5 syndactyly. In both cases, gross examination of the brain showed an absence of corpus callosum associated with interhemispheric cysts. The cerebral cortex in front of the cysts was nodular. Upon microscopic examination, the nodular masses corresponded to large dysplastic areas represented by clusters of undifferentiated neurons in the white matter. The cyst wall showed arachnoidal and ependymal covering and contained numerous choroid plexus, suggesting a developmental abnormality of the ventricles. The pons and the cerebellum were hypoplastic. The dentate nuclei were fragmented. Numerous neuronal heterotopias associated with ectopic ependymal cavities were observed in the vermis in one case. The olivary nuclei were severely dysplastic too. We hope that these new data will make both the ante- and post-natal diagnosis easier, facilitate comparisons with animal models and encourage the identification of the genes responsible for this syndrome.

Pregnancy after embolization therapy for uterine arteriovenous malformation.

OBJECTIVE: To describe childbearing prognosis following embolization therapy for uterine arteriovenous malformation (AVM). DESIGN: Case report and review. SETTING: University hospital. PATIENT(S): Thirteen patients, including our case, who underwent pregnancy after embolization therapy for arteriovenous malformation. INTERVENTION(S): Two successive embolization procedures. MAIN OUTCOME MEASURE(S): Childbearing prognosis following embolization therapy for uterine AVM. RESULT(S): Bilateral embolization was performed in seven patients. In four cases, including ours, two successive embolization procedures were required to treat the uterine AVM. The longest delay between embolization and pregnancy was 5 years and the shortest was six weeks. Two patients presented with postpartum hemorrhage which was treated medically. One neonate required resuscitation after delivery in the context of Listeria infection. CONCLUSION(S): Conservative management of uterine AVMs using embolization therapy is being increasingly developed. New embolization agents and hyperselective technical procedures aim at reducing morbidity related to such treatments and preserving reproductive capacity in women of childbearing age.

Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome.

This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization.

The value of three-dimensional ultrasonography in the screening of the fetal skeleton.

INTRODUCTION: 3D ultrasound is a new technical advance that gives complementary information to that provided by the 2D ultrasound. It may help to correctly diagnose fetal anomalies. VALUE OF 3D ULTRASOUND: Its major advantages are as follows: any section plane can be created within the volume, making it possible to realize sections perpendicular to the ultrasound beam; multiplanar view; storage of volumes that can be reviewed afterward and may be useful for educational purposes.

Three-dimensional sonoembryology.

Three-dimensional (3D) ultrasound plays an important role in obstetrics, predominantly for assessing fetal anatomy. Presenting volume data in a standard anatomic orientation valuably assists both ultrasonographers and pregnant patients to recognize the anatomy more readily. Three-dimensional ultrasound is advantageous in studying normal embryonic and/or fetal development, as well as providing information for families at risk for specific congenital anomalies by confirming normality. This method offers advantages in assessing the embryo in the first trimester due to its ability to obtain multiplanar images through endovaginal volume acquisition. Rotation allows the systematic review of anatomic structures and early detection of fetal anomalies. Three-dimensional ultrasound imaging in vivo compliments pathologic and histologic evaluation of the developing embryo, giving rise to a new term: 3D sonoembryology. Rapid technological development will allow real-time 3D ultrasound to provide improved and expanded patient care on the one side, and increased knowledge of developmental anatomy on the other.