PURPOSE OF INVESTIGATION Hydatidiform mole (HM) is an abnormal pregnancy characterized by proliferation of cytotrophoblast and syncytiotrophoblast and vesicular swelling of placental villi. The fetus or embryo can be absent or abnormal. HMs can be complete or partial. CASE REPORT A case of diginyc partial HM at 12 weeks of gestational age was referred to the present center of prenatal diagnosis. The patient showed ovarian hyperstimulation syndrome. At ultrasonography, increased fetal nuchal translucency (NT) with fetal anomaly was evident, without sonographic signs of placental mole. Pregnancy was terminated with legal abortion. RESULTS Partial HM (PHM) was suspected by ultrasonographic fetal markers with ovarian hyperstimulation syndrome, but the diagnosis was performed only with fluorescent in situ hybridization. In particular fetal NT appeared increased also in diginyc mole. CONCLUSION In order to improve the detection rate of PHM, routine histological examinations may be associated to fluorescent in situ hybridization in all cases of fetal anomalies

Anserini P

Bogliolo S

De Biasio P

Ezio Fulcheri

Gaggero Cr

Molinari C

Motzo M

Sala P

English

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IntroductionHydatidiform mole (HM) is an abnormal pregnancy char-acterized by proliferation of cytotrophoblast and syncytiotro-phoblast and vesicular swelling of placental villi [1]. The fetusor embryo can be absent or abnormal. HMs can be completeor partial. About 90% of complete hydatidiform moles(CHM) are 46, XX for the chromosomes duplication of anhaploid sperm after fertilization of an egg in which the ma-ternal chromosomes are either inactive or absent. The other10% are 46, XY, or 46, XX for fertilization of an empty ovumby two sperm. Practically always partial hydatidiform moles(PHM) have a triploid karyotype [1]. Most triploidy are diandric origin (type I), caused by thefertilization of a haploid ovum by two single sperm or a sin-gle diploid sperm; a minority part of triploidy are digynic(type II), caused by a double maternal haploid contributionin the egg. Also the fetal phenotype of PHM is different: intype I fetuses with normal growth and the placenta presentmolar changes; type II fetuses have an asymmetrical growthrestriction and the placenta is normal. Type I is associatedwith a higher rate of poor outcome [2]. Exceptionally hy-datidiform molar pregnancy may be present at diagnosiswith an ovarian hyperstimulation syndrome [3]. Median fetal nuchal translucency (NT) and maternalserum markers are different in two phenotypes of triploidy,fetal NT generally is increased in type I [4,5]. The authors have recently observed a case of PHM at 12weeks of gestational age with ovarian hyperstimulationsyndrome, increased fetal NT and other fetal anomaly, butwithout sonographic and histological placental signs ofmolar pregnancy; the definitive diagnosis was obtainedwith fluorescent in situ hybridization.Case ReportA 31-year-old woman, gravida 2 para 1, was referred to Centerfor Prenatal Diagnosis of G. Gaslini Institute for an hyperstimu-lation syndrome in spontaneous pregnancy. The anamnestic ges-tational age was 12 + 0 weeks.Her medical and obstetrical history was unremarkable. The first ob-stetrical consultation was taken at eight weeks of pregnancy with dat-ing ultrasound and there was not evidence of gestational anomaly. At the present authors’ observation the patient presented nauseaand cramping abdominal pain since 12 hours. The physical ex-amination showed a decreased lung sound, tachycardia, and ab-dominal distension. No abnormal vaginal secretions or bleedingwere evident. At gynaecological examination, diffuse abdominalpain was evocated and ovaries appear increased in thickness andenlarged with superior ovarian margin extending to umbilicaltransverse line bilaterally.A transabdominal ultrasound showed a normal uterus with livefetus, with inappropriate biometry [crown rump length (CRL) 46.4mm, below the 5th centile] and with a nuchal oedema of 4.5 mm(MoM 3.14) (Figure 1).The uterine adnexa were enlarged on both sides measuring 11.8×8.3×8.1 mm [right ovary] and 11×7.6×8.4 mm [left ovary] withRevised manuscript accepted for publication February 17, 2015Diginyc partial hydatidiform mole with increased fetal nuchaltranslucency and ovarian hyperstimulation syndromeC.R. Gaggero1, S. Bogliolo2, P. Sala3, C. Molinari3, M. Motzo1, E. Fulcheri4, P. Anserini3, P. De Biasio11 Center of Prenatal Diagnosis, Department of Obstetrics and Gynecology, IRCCS Giannina Gaslini Institute, Genoa2 Department of Obstetrics and Gynecology, Fondazione IRCCS Policlinico San Matteo, Pavia3 Center for Human Reproduction, Department of Obstetrics and Gynecology, IRCCS San Martino Hospital and National Institutefor Cancer Research, Genoa; 4 Center for Placental and Foetal Pathology, IRCCS Giannina Gaslini Institute, Genoa (Italy)SummaryPurpose of investigation: Hydatidiform mole (HM) is an abnormal pregnancy characterized by proliferation of cytotrophoblast and syn-cytiotrophoblast and vesicular swelling of placental villi. The fetus or embryo can be absent or abnormal. HMs can be complete or par-tial. Case Report: A case of diginyc partial HM at 12 weeks of gestational age was referred to the present center of prenatal diagnosis.The patient showed ovarian hyperstimulation syndrome. At ultrasonography, increased fetal nuchal translucency (NT) with fetal anom-aly was evident, without sonographic signs of placental mole. Pregnancy was terminated with legal abortion. Results: Partial HM (PHM)was suspected by ultrasonographic fetal markers with ovarian hyperstimulation syndrome, but the diagnosis was performed only with flu-orescent in situ hybridization. In particular fetal NT appeared increased also in diginyc mole. Conclusion: In order to improve the detec-tion rate of PHM, routine histological examinations may be associated to fluorescent in situ hybridization in all cases of fetal anomalies.Key words: Partial hydatidiform mole; Fetal nuchal translucency; Ovarian hyperstimulation syndrome; Diginyc mole.CEOGClinical and ExperimentalObstetrics & Gynecology7847050 Canada Inc.www.irog.netClin. Exp. Obstet. Gynecol. - ISSN: 0390-6663XLIII, n. 3, 2016doi: 10.12891/ceog2160.2016C.R. Gaggero, S. Bogliolo, P. Sala, C. Molinari, M. Motzo, E. Fulcheri, P. Anserini, P. De Biasio468multiple bilateral theca lutein cysts, and liquid effusion was pres-ent in Douglas pouch measuring six cm in diameter. Although the fetal anatomy study was limited since the earlygestational age, a very large bowel herniation was found for ges-tational age, possibly an omphalocele, and a complete chorioam-niotic separation with amniotic membranes not fused to all uterinewall (Figure 2). The placenta was regular without the aspect ofmolar pregnancy: the classical “snowstorm” appearance or cysticchanges were not evident. The ß-hCG was 653,000 mIU/ml. Acombined test of screening showed an elevated risk for trisomy 21(risk >1:5 with free beta hCG 9.45 MoM, PAPP-A 1.86 MoM andnuchal translucency of 3.14 MoM). For Trisomy 13 and 18 therisk was low. On the basis of the highly elevated ß-HCG and sono-graphic fetal findings, a molar pregnancy was suspected.Patient was hospitalized at Center for Human Reproduction forthe management of ovarian hyperstimulation syndrome. Patienttreatment consisted of intravenous fluid, deep vein thrombosisprophylaxis, monitoring of vital signs, fluid balance, and dailymonitoring of electrolytes and hematocrit. The pregnancy wasthen terminated with legal abortion using dilatation and curettage;chorionic villous sampling was not performed for the patientchoice. The histological examination of abortive material showednormal placental tissue without the classical aspect of a partialmole. No signs of chorioncarcinoma were observed. Only the flu-orescent in situ hybridization identified the karyotype of villous:chromosomes analysis showed a digynic triploidy, with sexualchromosomes XXY. The serum ß-hCG levels declined to 56,000mIU/ml at the end of hospitalisation, 96 hours after surgery. Aweekly follow up of serum ß-hCG level revealed that the hCGlevel declined to zero at ten weeks after the abortion.DiscussionThe ultrasonographic diagnosis of PHM is difficult. In-deed, some cases of PHM may present only an enlarged, pla-centa without obvious vesicular changes [2]. In the firsttrimester of pregnancy, ultrasonographic detection rate ofmolar pregnancy is generally low. The detection rate ishigher for CHM compared to PHM (95% and lower at 20%,respectively), and in all types of HM the ultrasonographicdetection rate was 44% [6]. The sensitivity of ultrasound di-agnosis of PHM risk increases with gestational age, there-fore the detection rate improves after 14 weeks’ gestation [6].In ultrasonographic diagnosis of PHM, two criteria havebeen found to be significant: (1) a ratio of transverse toanteroposterior dimension of a gestational sac greater than1.5 and (2) cystic changes, irregularity, or increasedechogenicity in the decidual reaction/placenta or my-ometrium [7].In the present case, according to the literature, ultra-sound showed a normal placenta, without cystic lesions;the transverse dimension of gestational sac was 90.5 mm,the anteroposterior 47.7 mm; therefore the ratio was 1.89,greater than 1.5.In PHM also structural fetal abnormalities are frequent.Triploid fetus exhibit malformations of extremities, cen-tral nervous system, craniofacial structures, and cardiacanomalies [2]. In the present case a nuchal edema of 4.5mm and a large incomplete closure of the abdominal wallwere evident at ultrasonography (Figures 1 and 2).Fetal growth restriction is associated with fetal triploidyand it may begin during the first trimester; the CRL isbelow the 5th centile of the normal range in about two-third of the cases examinated, before 15 weeks, in thestudy of Jauniaux et al. [2]. The growth restriction is dueto disproportionate prenatal growth deficiency. A fetuswith asymmetrical growth restriction and a normal pla-cental appearance suggest a digynic triploid more than adiandric triploid. In the present case the CRL was underthe 5th centile [44.6 mm at 12 weeks and 0 days].In 2013 Onur E et al. reported a persistence of chorioam-niotic separation (CAS) and yolk sac still visible in the earlysecond trimester associated with triploidy [8]. When the am-nion and chorion are not fused in the second trimester areoften are associated with fetal aneuploidy, especially whenother sonographic abnormality is found [9]. In the presentcase, CAS could be due to early gestational age, but it wasvery evident and it was extended to the entire gestationalsac; the yolk sac persistence was not present.Regarding screening for triploidy by fetal NT and ma-ternal serum, two studies of Spencer et al. in 2000 andFigure 1. — Nuchal edema of 4.5 mm. Figure 2. — Bowel herniation and a complete chorioamniotic se-paration.Diginyc partial hydatidiform mole with increased fetal nuchal translucency and ovarian hyperstimulation syndrome 469Kagan et al. in 2008 showed that the combined use of thealgorithms for trisomies 21, 18, and 13 can identify about85% of fetuses with triploidy [4,5]. The identification rateincreases to 90% using the fetal heart rate in addiction tofetal NT and maternal serum markers.Median fetal NT and maternal serum markers are dif-ferent in two phenotypes of triploidy. In type I there is in-creased fetal NT and maternal serum total hCG, freeß-hCG, and AFP with mildly decreased PAPP-A. Type II(digynic) is associated with normal or mildly increasedfetal NT and markedly decreased maternal serum totalhCG, free ß-hCG, and PAPP-A with mildly decreasedAFP [4, 5]. The present data’s screening appear in contrast withwhat reported in the literature: the authors’ experience ofdigynic mole showed an increased NT and maternalserum free ß-hCG and a regular PAPP-A.ConclusionIn conclusion in the present authors’ experience, PHDwas suspected by different ultrasonographic fetal mark-ers of abnormality associated with ovarian hyperstimula-tion syndrome, but the diagnosis was made only withfluorescent in situ hybridization.The ultrasonographic aspect of PHM is not always di-agnostic, and in the present authors’ experience, it waspartially in contrast with that reported in literature [4, 5].In order to improve the detection rate of PHM, routinehistological examinations may be associated to fluores-cent in situ hybridization in all cases of fetal anomalies.References[1] Lurain J.R.:“Gestational Trophoblastic disease I: epidemiology, pathol-ogy, clinical presentation and diagnosis of gestational trophoblastic dis-ease, and management of hydatiform mole.” AJOG, 2010, 203, 531.[2] Jauniaux E.: “Partial moles: from postnatal to prenatal diagnosis.”Placenta, 1999, 20, 379.[3] Arora R., Merhi Z.O., Khulpateea N., Roth D., Minkoff H.: “Ovar-ian hyperstimulation syndrome after a molar pregnancy evacuation.”Fertil. Steril., 2008, 90, 1197.[4] Kagan K.O., Anderson J.M., Anwandter G., Neksasova K., Nico-laides K.H.: “Screening for triploidy by the risk algorithms for tri-somies 21, 18 and 13 at 11weeks to 13 weeks and 6 days ofgestation”. Prenat. Diagn., 2008, 28, 1209.[5] Spenser K., Liao A.W., Skenton H., Cicero S., Nicolaides K.H.:“Screening for triplody by fetal nuchal translucenty and maternalserum free ß-hCG and PAPP-A at 10-14 weeks of gestation.” Prenat.Diagn., 2000, 20, 495.[6] Kirk E., Papagerghiou A.T., Condous G., Bottomley C., Bourne T.:“The accurancy of first trimester ultrasound in the diagnosi of hy-datiform mole.” Ultrasound Obstet. Gynecol., 2007, 29, 70.[7] Fine C., Bundy A.L., Berkowitz R.S., Boswell S.B., Berezin A.F.,Doubilet P.M.: “Sonographic diagnosis of partila hydatiform mole.”Obstet. Gynecol, 1989, 73, 414.[8] Onur E, Melek E, Mehmet K.: “Complete Chorioamniotic separa-tion and persistence of a Yolk sac associated with triploidy.” J. Ob-stet. Gynecol. Can. 2013, 35, 914.[9] Abboud P., Mansour G., Zejli A., Gondry J.: “Chorioamniotic sepa-ration after 14 weeks’gestation associated with trisomiy 21.” Ultra-sound Obstet. Gynecol., 2003, 22, 94.Address reprint requests to:S. BOGLIOLO, M.D.Department of Obstetrics and GynecologyFondazione IRCCS Policlinico San Matteo19, P.le Golgi, 27100, Pavia (Italy)e-mail: s.bogliolo@smatteo.pv.it

Diginyc partial hydatidiform mole with increased fetal nuchal translucency and ovarian hyperstimulation syndrome.

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Diginyc partial hydatidiform mole with increased fetal nuchal translucency and ovarian hyperstimulation syndrome.

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