Ulrasound Obstet. Gynecol. 8 (1996) 11-15 Transabdominal fetoscopy in fetal anomalies diagnosed by ultrasound in the first trimester of pregnancy Y. Ville, J. P. Rernard, S. Doumerc, O. Multon, H. Fernandez, R. Frydman and G. Barki Unite de Médecine Foetale et de Diagnostic Antenatal, Service de Gynécologie Obstétrique hépital A. Béclere, Clamart, France Key words: FETOSCONY, FIKSI IKIMESTER, AMNIOCENTESIS, PRENATAL DIAGNOSIS ABSTRACT The ability of ultrasound to diagnose fetal anomalies 4s linuted in the carly stages of gestation. We deseribe a microendoscope thut can be used with an 18-yauge needle at the time of amniocentesis to provide more precise diagnostic information when the first-trimester ultrasound examination suggests problems INTRODUCTION The current approach to prenatal diagnosis relies mainly on high-resolution ulteasonography in the first and second trimesters of pregnancy. Early prenatal diagnosis by ultua- sonography is often limited in terms of making a precise assessment of fetal anomalies and becomes an indication for further evaluation. This can be done by decailed ultta sound examination in the second trimester of pregnancy or by fetoscopy: Rapid advances in diaguostic fetwscopy have been hindered by its invasiveness: however, we have at tempted to refine the technology and have developed a semi-rigid endoscope 1mm in diamerer thar can be used through an 18-gauge (1.3 mm) needle. This provides a cleat image uf the external anacomy of the fetus, and per- mits early fetal rssue sampling MATERIALS AND METHODS ‘A sern-tigid 0° end-view microendoscope (Miniscope) has a diameter of 1 mm and is 20 cm in length. It has a 70° field of view and comprises more than 10 000. picture clements (pixels). The Miniscope is connected to ite focus- ing eye piece through a flexible portion 100 em in length (ART 11510, Karl Storz, Tuttlingen, Germany). The trocar can be a single 18-gauge needle’ or carry a 20-gauge (0.9 mm) side operative channel (Figure 1). A 24-gange needle can therefore be used under full endoscopie vision, ‘The light guide is connected to the ocular and to a xenon light souree {175 W 615B, Karl Sto12, Tutlingen, Ger many). The camera used is equipped with a zoom (Telecam 2021001, Karl Storz, Tuttlingen, Germany}. Local analge- sia is given by injecting 10 ml of 1% non-adrenalized xylo- subcutaneous tissues down to the ‘myometrium. The needle is then inserted transabdominally into the amniotic cavity uncer continuous sonographic guidance. Amniocentesis can be performed either before or after feroxcopy caine into the CASE REPORTS Case 1 A 25-year-old patient in her second pregnancy was referred at LL weeks’ gestation with suspected bilateral malposition of the fetal hands diagnosed by ultrasound (Figure 2a). The crown-rump length was 50 mm and nuchal tansluceney Figure 1 Semi rigid Miniscope (1 mm in diameter; 0°, 70° angle ‘of view) (Karl Store, Tutlingen, Germany) Correspondence: De Ville, Fetal Medicine Unit, St. George's Hospital Medics! School, Cranmer Tesrace London SW17 ORE, UK Received 4 Revised 29-12-95, Accepted 194-6‘Transabdominal fetoscopy in first trimester was Imm, The patient was counselled to have another scan 2-4 weeks later of fetoscopy at 12 weeks’ gestation. The pacents opted for fetoscopic evaluation. This was cat- ried out with the Miniscope as described above and, at the same time, a sample of 15 ml of clear amniotic fluid was raken for karyoryping, Fetoscopic examination confirmed bilateral club hands and hypoplastic forcarms, (Figures 2b and 2c); the fetal face and lower limbs appeared to be normal. The fetal karyotype was known 8 days later and was 47,XX+18. The parents opted for termination of the pregnancy. Although trisomy 18 is a specific entity, radial aplasia has been reported antenatally to occur in assucia tion with thrombocytopenia (thrombocytopenia with ab- sent radii (TAR) syndrome!!. The patient gave consent for cordacentesis to be performed before induction, A 24- gauge needle was passed through the 20-gauge side opera {a} Club hand suspected by ulteasound at 1 weeks’ Figure 2 gestation; (h) ilareral chub hand and short forearm, as shown by fetoscopy; (c} drawing of the fetoscopic picture 12 Ultrasound in Obstervice and Gynecology Ville et a tive channel, and the cord was punctured under full endoscopic vision (Figure 3). The procedure was compli cated by anmiotic fluid concamination causing platelet aggregation. Termination was achieved with the use of mifepristone and prostaglandins at 13 weeks’ gestation. Bilateral club hands with radial aplasia were confirmed postmortem and 2 small sacral myclomeningocele, which hhad not been seen on the scan or by fetoscopy, was also observed. Case 2 A 37-year-old patient (G3, P2) had had ewo babies affected by a large midline cleft lip and palate. The anomaly was, not recognized antenatally in the frst pregnancy and the lesion was diagnosed at 23 weeks in che second child Plastic surgery had been performed on three occasions on both children. This pregnancy was unplanned and the patient asked for an eazly diagnostic rest as well as arn. centesis for feral karyorype. Fetoscopic evaluation was offered at 12. weeks’ gestation, because the scan suggested Figure 4a). A large median facial cleft was clearly seen by fetoscopy (Figure 4b); introduction of the tip of the miniscope in the fetal mouth strongly suggested a defect of both upper lip and palate, The couple asked for termination of the pregnancy, but declined the use of prostaglandins. Dilatation and curettage were per- formed under general anesthesia. Pathological examination confirmed the fetal facial defect but did not provide a complete postmortem informations the fetal karyotype was AGXY. recurrence of facial clef Case 3 A 27-year-old primigravida underwent ultrasound exan nation at 9 weeks’ gestation for precise dating of the preg- Abnormal bulging of the fetal cranium was diagnosed and frontal encephalocele was strongly sus- pected (Figure Sa). The patient was counselled to have another scan 2-4 weeks later or fetoscopy at 11 weeks’ gestation. Fetoscopy was performed with the miniscope after local analgesia, as already described, and amnio- Figure 3 Umbilical cord sampling at 13 weeks’ gestation under endoscopic vision. The needle approaches the cord (left) and punc: toes the voi (rightTransabdominal feroscopy in first trimester Figure4 (a) Ultrasound examination of the fetal face at 12 weeks’ gestation. A lateral facial cleft is suspected (caliper); (b) ‘endoscopic vision of a large median cleft of the upper lip and palate (arrowhend);(c} drawing ofthe ftoscopie picture centesis was performed at the same time. A. frontal encephalocele was confirmed (Figure Sb); in addition, a midline facial clef way found, bur no ocher anomaly could be seen. The patient requested termination of the preg- nancy and declined the use of prostaglandins. Dilatation and cnrertage were performed under general anesthesia, Postmortem examination confirmed the association of encephalocele and facial cleft, but could not provide further details on the fetal anatomy. The fetal karyotype was 46.XX, DISCUSSION Historically, embryoscopy was first performed transcervi cally, with the use of various types of hysteroscopes, rang- ing in diameter from 2.2 to 10 mm*', The scope was Ville etal passed under ultrasound guidance into the exocelomic cavity, without disturbing the amnion. This technique can not be used after I weeks’ gestation, when the exocelomic space is reduced and trauma to the amnion becomes more likely. Embryoscopy is therefore confined to the diagnosis of severe syndromes that show external structural anomalies with a high risk of recurrence, Ultrasound ex: amination of the fetus is best performed after 11-12 weeks? gestation and is currently offered for precise dating of Pregnancy and as part of screening programs for fetal aneuploidies. The most common abnormalities diagnosed or suspected at this stage of pregnancy include exencephaly cr anencephaly, abnormal nuchal thickness (eystic hygro ‘maca 01 nuchal wauslucency),exomphalos, facial cleft, ab- normal position of the limbs and hydrops fetalis Complete examination of a 12 weeks’ fetus by ultra- sound is very unlikely, and lethal or complex anomalies a¢ wel as isolated structural defects can be associated with ther abnormalities that may not be recognized by ultra sound examination. One option is to wait for a detailed ultrasound examination in the second trimester, but this is rarely welcomed by the parents whose anxiety calls for rapid and complete fetal evaluation, especially when tui nation of pregnancy isa possible option Confirmation of prenatally diagnosed anomalies is critical for effective patient counselling. However, when termination of the pregna trimester, some patients will decline the burden of & minilabor induced by prostaglandins, and dilatation aspiration techniques leave very little material for post y ig requested in the first Precise assessment of the fetal anatomy should be ar sied uu prive w evacuation, and wransabdominal fecoscopy is another option’’. Further development and refinement of this technology have allowed direct visualization of the ferns witha fiberoptic endoscope that could be directed in the amniotic cavity theough a 19-20-gauge needle" and performed at the time of amniocentesis. However, micro: endoscopy with a flexible 750-um endoscope has several limitations: che resolution depth is short (up to 10 mm), the field of view is very narrow (approximately $ mm at 1 cm) and the light is often insufficient. These limitations result from a compromise between the number of optic and light fibers thar the endoscope can accommodate (currently 3000 fibers). Therefore, visualization of the fetal anatomy can only be partial and ie dependent on high-resolution ulrasound co divect the needle wowace (etal part under investigation. The new microendoscope (Miniscope) pre sented here allows a better visualization with an increased depth (1-3 cm) and a 70° angle of view (2.cm field at 1em depth). Furthermore, the light delivered by the light source ives a clear innage of the fetus, and the procedure can therefore be shortened. There are several concerns regarding the use ofthis new method of investigation, 1} Care should be taken in making a diagnosis of fetal anomaly in the first trimestec!. This i particularly important since, even in the first trimester, fetoscopy Ultrasound im Obstetrics and Gynecology 13Transabdominal fetoscopy in first trimester Figure 5 gestation; [b} endoscopic vision of the encephalocele (arrowhead) (a} Suspected encephalocele by ultrasound at ¥ weeks (¢) drawing of che fetoscopic pictur; (d) visualization of a facial cleft (arrowhead); (e) drawing of the fetoscopic picture offers only an incomplete evaluation of fetal anatomy. rormalities of the internal fetal anatomy Associated al can be missed by ultrasound in the first trimester. For example, spina bifida was missed in case 1, because of the position of the fetus. Firsttrimester ferascopy is directed towards a very limited part of the fetus, and rmust be carried out under ultrasound control. The possible risks to the developing retina from expo: sure to embryoscopic or fetoscopic white light are still under question; however no retinal damage or other developmental abnormalities could be demonstrated in chicken’ or sheep!” embryos. Human data are still limited, bur infants born after first-trimester trans- cervical embryoscopy did not demonstrate any visual abnormality" (3) The risk of abortion following the procedure is, at present unknown. Before the development of high- alteasonogeaphy, transabdominal_ fetos- copy!!! was performed with the use of 6mm and 22m endoscopes for exataination of the human fetus in combination with fetal blood sampling or fetal biopsy; however, fetal loss rates were as high as 4-8%. The procedure-related risk of miscarriage for the 14 Ultrasound in Obstetrics and Gynecology Ville etal present technique is probably nor much greater than that of firs-trimester amniocentesis (2-3% increased risk)", The semi-flexible microendoscope is passed through an 18-gauge needle and adds an extra 1 min to the procedure of amniocentesis, which can be per formed at the same time, Fetoscopy should therefore taut add siucls ww the background risk of amniocentesis, performed at the same gestational age. However, this remains to be demonstrated and patients should be counselled accordingly, especially if this technique finds widespread application in early fetal diagnosis and therapy". REFERENCES I. Labeuney P., Pons, J.C., Khalil, M., Mislsse, V., Imbert, M.C., Odievee, M., Daffos, F., Tehernia, G. and Frydman, R 1993}. Antenatal thrombocytopenia in three patients with ‘TAR syndrome. Prenat. Diagn, 13, 463-6 2, Westin, B, (1954), Hysteroscopy in early pregnancy. 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