ISSUE 2, JULY 2016 BANGALORE FETAL MEDICINE CENTRE SOUND TALK WITH THE UNBORN eee INSTAL Ceara on = Se een Seay Dating a iet west oop acest] » First trimester screening for aneuploidies iano anc Careinthe first trimester, and which canbeimplementedin MANN Terran en ene Tee etd » First trimester biochemical markers > Target 9~ the first trimester anomaly scan » Chorionic villus sampling 1) pros nicolaides, “The miracle maker for NHS's tiniest Kypros Nicolaides who patients’, “Father of fetal medicine” is indeed geve Us invaluable legendary figure in the field of fetal medicine. Fondly Insights into the first 12 k”ownas"Prof” byhistain2es, his nameis synonymous Weeks of the fetus with all aspects of the fetus, right from diagnosis to therapy. Having trained several doctors. across the lobe, he shares a personal rapport with every single trainee who in turn is almost always in ave with his persone. The mothers on whom he performs the sean/ procedure are totally at ease in his presence, enthralod by his “quick chat” which also reveals his inimitable sanse of humour. His professionalsupremacy svery ‘evident when he performs complicated procedures on the fetus where in; his technical finesse, excellent training skills ‘and petient wellbeing come tothe foreellat the same time, Prof, as refer to him, has an obsession with research and publishing. He has published more than 1000 articles, several books and monologues, and probably has the highest number of publications by any person in the medical field. Unknown to many, Prot has 2 keen interest in world politics and history. His uncompromising pursuit of scientific truth hasled voimmense benefits for thefetus anc mother, across the world. Dr. Prathima Radhakrishnan: Director & Consultant in Fetal Medicine -BFMC DATING IN FIRST TRIMESTER, \ Dr Saket B Thakar (Fellow in Feta! Medicine — BFIMC) * First-trimester CRL : Best parameter for determining gestational age (GA) + If more than one first-trimester scan with 3 MSD or CRL measurement is available, the earliest ultrasound with 2 CRL equivalent to at least 7 weeks (or 10 mm) should be used to determine: the gestational age Very early gestations: Embryo is relatively small, hence measurement errors have a more significant effect on GA assessmentIssue 2, suty 2016 fetelogue 14% ‘SOUND TALK WITH THE UNBORN ‘Mid sagittal section ‘+ Head in line with full ength ofthe body * Echogenic tip of the nose ‘+ Rectangular palate + Fluid pocket: Between fetal chin & chest ‘© CRLaxis:0°-20' to the horizontal * Nasal tip: At or above the level of + Clearly defined crown & rump anterior abdominal wal FIRST, TRIMESTER SCREENING FOR ANEUPLOIDIES SIM °7 S428 8 Thakar (Fellow in Fetal Medicine - BFMC) “every pregnant wornanshouldhave he opportunity to receive the best posible estimate of her personal isk fr fetal _aneuploidy’. Postion statement from the Aneuploidy Screening Committee on behalf ofthe Board of International Societyfor Prenatal agnosis (IPO). “Puegaant women may be offered sereeing fr Down syndrome. These tests are cecommended wherever possible, ‘and not mandatory a8 there may be financial and logistic problems in these tests being made available everywhere, cespeciallyin remote vralareas FOG! -ICOG Good clvieal practice recommendations: Recommendations for routine antenatal care for healthy pregnant women; Refer.7.2.1—Screening for DownSyndrame “The purpose of ist trimester screening (F13 sto ascessa woman's risk for fetal aneuploidy, mainly Down syndrome (omy 23), Trisomy 13 and Trisomy 18, Of these, screening for Cown syndrome is most significant a other neuploides vsvaly present with abnormal ultrasound findings at the nuchal translucency (NT) scan. The subcutaneous accumulationof uid behindthe feta neckinthetirst timesterofpregnancyismeasuredas NT. © Combinedscreen: NT + FHR + biochemical markers (Free B-ACG +PAPP-A)-85~90% © NTalone: 75-80% © Serum biochemistry alone: 60-70% Optimal Screening ¥ NTscan at 11-134 weeks (CRL 45mm_- 84mm) + ¥ Serum biochemistry: Best 10-11 weeks, anytime between 3-13 weeks (CRL>35mm) Pretest counselling: Nature ofthe test, possible outcomes and options thereafter.Is8UE 2, 4U0Y 2016 fetolog UC lak SOUND TALK WITH THE UNBORN FTS risk estimate: Low / Intermediate / High Proceed to anomaly scan at 18:20 weeks. Combined FTS + QT: DR- 92-95% Quadruple test (Q} is optional Fetal US markers: | —> [lowerisk (ersten + Nasal bone ae earn Ce lhe che + Ductusvenosustlow | —» (intermediate risk are nate Sonogram (18. nie Normal Non-invasive prenatal testing CVS - definitive test voaveenan Miscarriage rik in 250 lows oe Amniocentesis -cfiritve est ‘Anomaly scan * ‘~Miscarriage risk: 1 in 250 (18-20 weels)18582, .0LY 2016 BANGALORE FETAL MEDICINE CENTRE SOUND TALK WITH THE UNBORN If fetal karyotype is normal and NTis below the 9th scanat 18-20 weeks, including fetal echocardiography ‘he woman should be scheduled fora detailed anomaly {the fetal karyotype is normal and NT fs above the 9th centile, the wornan should have an early anomaly sean at 46 weeks. At this scan assess 1. Fetal viblity 2. Fetal morphology: ftructuralabnormaltiesare found, asses fr possibilty of genetic yndromes. 3, Evoitionof Resolves b. Nuehatedema/hydrops | Maternalblood—Toxoplasmosis, CMVand parvowrus619 DNAanalysistoruleoutgeneticsyndromes, especialy ithereisafamilyhistory 4, Inasidtion, the woman shouldhavea detailed anomaly scan (18-20weeks), ineludingfetalechocarsiography. ra ——— —_ * Fetal Atinesia Deformation Sequence Ly] -nconan syndcome Pasta evaation a ith anduptoSysefage | | [Link] Smee nts should + Hfunexpained nuchal edema i present at anomaly san, schedule fllow up scans every 4 weeks be counseled that there isa 10% sk of evolution to hydrops and perinatal death or ve birth with 3 emetic syndrome, oo FMF(2004): The 11-13" weeks scan1s5Ue 2, s0LY 2016 fetelogue raise SOUND TALK WITH THE UNBORN NT-<98th centile: Neurodevelopmental outcome is same asthe general population YNT> 99th centile: <1 % risk of mental retardation and ASD (Autism Spectrum Disorders) ¥ Recommend FT ¥ Ensure that tests are carried out as per standards ~ Maintain a follow-up regarding the antenatal course and outcome of pregnancies that have undergone FTS THE NT IMAGE Dr Kavyashree K.S (Senior Fellow in Fetal Medicine - BFMC) + 11-13 woeks or cRL 45 ~ 84mm (deal time ~ 12+ weeks) ‘+ 75% magnification -Head & upper thorax ONLY ‘+ Mid sagital view * Neutral position —Head inline with the spine + Fetal skin away from amnion ‘= Measure MAXIMUM lucency * Caliper placement "+" -“Inner to Inner”1ssU 2,.uUr 2016 etologue rai SOUND TALK WITH THE UNBORN [Link] fT image | =| Toned ead rended head Truomalsscen—plne | [ Wonenieanrenent- cat neyo veh not mie messed on eter sie of Piston | Pee Heh | Veal the nuchal ord FIRST TRIMESTER BIOCHEMICAL SCREENING Dr Rashmi Vasanth (Consultant in Fetal Medicine -8FMC) First trimester biochemical sereening involues measuring two proteins in the maternal serum which are ‘producedby the placenta, and referred to asbiachemical markers. Y_ FreeB-human chorioniegonadotrophin (free ACG) Pregnancy associated plasma protein A(PAPP-A) ‘The measured levels are converted to MoM (multiples ofthe median) values to overcome gestational age dependant variation ofthe values. Ingeneral MoM/of 1.00jsnormal,a value of >2.00s elevated anda value of <0.50is reduced. Itisimportant that gestational age Isaccurately known. “Timing: Best 10-11 weeks, anytime between 9~ 13° weeks ‘Aneuploidy Heelan ee cu Tesomy 21 215 ons, 90 Thsomy 13 050 025, 90 Tisomy 18, 028 ons 89 45x un 089 290 Tiploidy, maternal os 0.05 290 Triploidy, paternal 8.04 075 290 Interpretation Screen positive: Above a cut-off of 2:50, which is laboratoryspecitic Screen negative: Below 1: 250,(sue 2, suty 2018, fetelogue rai SOUND TALK WITH THE. a WAC iS Ret HONE ETO, COSA GROOT ‘show that such pregnancieshaveahigher isk of fetal abnormalities, pretermbirth and lower birthweight. erecird eer PAPP-A. Increasing gestational age High amt w ‘Assisted conception >| |||] 4}]<-|-4} |] Multipara Smoking Toes Vankting win-emptysac | Nodtoenee note Venting win fatalpoles | noes T No effect: Diabetes, previous aneuploidy aa ‘Gione [aa Birth weight <3 37 Preterm bth 34 wis 24 Preeclampsia 37 Fetal ons £24 whe 33 Fetaloes> 28 wks 19) Increased risk of earl fetalloss<24 wks °¥ Association with IUGR less clear, less pronounced (OR1.$5) Noevidentassociation with preeclampsiaor pretermbirth, ‘Neither high free f-hCG norhi PAPP-A have anassociation with adverse pregnancy outcomes. ‘There are no randomised trials evaluating the role of interventions in women found to have abnormal frst ‘trimester biochemical markers. Also thereisro consensus on how such pregnancies need tobe managed. ‘The recommendation by Society of Obstetricians and Gynaecologists of Canada Genetics Committee is 2s, follows: “Obstetricians establish a care plan that takes into account the risks specific to individual patients. This plan may include enhanced patient education (eg, signs and symptoms of preterm labor and preeclampsia, recognition of decreased fetal movement), ultrasonography to assess fetal growth and amniotic fluid volume or cervical length, second trimester uterine artery Doppler examination to detect tuteroplacentalvasculopathy, and fetal surveillance (e, biophysicalprofile, umbilical artery Doppler)"fetologue vais SOUND TALK WITH THE UNBORN ‘TARGET.9 ~ FIRST TRIMESTER ANOMALY SCAN (FTAS) Dr Anitha Shettikeri (Consultant in Fetal Medicine -BFMC) + Early reassurance, early detection & geneticdiagnosis + DR:18~71%, BEMCOR—S4% + Should FTAS beotferedtoall? Y_NT<2Smm-32%of majorabnormalities ¥ Women<35yrs-45%of majoranomalies Hence there saroleinlowand high riskeroup + Firsttrimester sean includes detection of gross fetal malformations -ISUOG practice guidelines for {first trimester screening in 2012 + Embryonic/fetal anatomy appropriate for first trimester should be assessed -AIUM 2012 + TASandTVSarecomplimentary toeach other NORMAL ACRANIA/EXENCEPHALY |partia/complete absence of cranial vault after Ll weeks © Aerania-brain present, appears normal © Exencephal-brain present, appears istorted/distupted Anencephaly-brain absent, ill-defined heterogenous mass above level of orbits (necrotiebraintissue) Specifically look for frontal bone ossification inaxial coronal planes OCCIPITAL ENCEPHALOCELE + Absent abe + Absent buttery sign ‘Large sickle shaped single cerebral ventricle’ + Fusedthalam? * Crescent shaped frontal * Bony defect in skull wit protrusion ofa sae consisting of| intacranialecontents-"Bun" appearance + 0/Deystie hygroma Intact occipital bone cortex’ NECK — NORMAL ALIGNMENT INIENCEPHALY + Persistently hyperextended head + Unable tomessure cRL + No eistince separation between head and body, posteriorly Abnormally short & deformedspine1ssue 2, sULy 2016, fetologue rai SOUND TALK WITH THE UNBORN EXOMPHALOS + Sac containing intestines, protruding through the fetalabéominal wall in the midline + Umbilical cord insertion usually atthe apex ofthesac GASTROSCHISIS + Free-floating cauliflower shaped mass intestines) protruding through the etalabdominal wall *+ Umbilical cord is usually inserted, usualy to the right of the intestinal MEGACYSTIS + ladderlargestlongitudinal ciameter>7 mm + Bladder measurement > 10% of CRL for any ven gestational age~suspicious NORMAL LIMBS Fused lower extremities ofthe fetus resembling a merraid’s tail * Abdominal wall defect + Kyphoscoliosis + Shoreumbilical cord BODY STALK ANOMALY(s8Ue 2, suv 201 fetologiie rai SOUND TALK WITH THE UNBORN (CHORIONIC VILLUS SAMPLING Dr Smita Dhengle (Fellow in Fetal Medicine - BFMC) Chorionic villus sampling (CVS) involves aspiration of placental tissue. Chorionic vil are an excellent source of {etal DNA, and representative of the geneticmake-up ofthe fetus Indications High risk for aneuploidy basedion first trimester screening or anatomic abnormalityon ultrasound ¥ Chromosomalabnarmalityin parents/previouspregnancy ¥ Geneticconditions where gene mutation analysis available from indexchild/parent (1/0 metabolicdisease & hemoglobinopathies) ¥ DNAextraction and storage Timing of CVS: 11-13" weeks ¥ <11weeks:dificultte perform (small uterus/ thn placenta), risk oflimb reduction defects ¥ > 14weoks: Laboratory issues with growing of cellsin he media leading todelay in diagnosis. Thiscan be circumvented by performing FISH/PCRanalysison the sametissue Requisites ¥ Written informed consent including rskof procedure elated miscarriage Fillsection “C" of Fotm Fand Form of PCPNOT ¥ Prophylactic antibiotics given in some institutions ¥ Ultrasound guidance throughout the procedure ¥ lf Rhesus negative, then AntiO mustbe administered post CVS 38 gouge needle Placonta Local anaesthetic ‘Complications >rocedure related risk of miscartiage: 1in250 * Vaginal spotting bleeding —very rare + Intrauterineinfection risk <0.2% * Laboratory falurerate: 1-23 + Maternalcelicontamination< 1%etelogue Deets ‘SOUND TALK WITH THE UNBORN | \ (Lite tnsights™ “Knowledge is 0 commodity to be shared. For knowledge to pay dividends it should not remain the ‘monopoly ofthe selected few” “The Fellowship programs at BFMC impart the best training in fetal medicine, and have been in effect since 2006. The courses are designed to expose the trainee to all aspects of fetal medicine and genetics, at the lend of which he/she will acquire expertise in fetal scans as per international standards and guidelines, in depth and superior counseling sls, as well as proficiency n performing fetal procedures depending on ‘whieh course the trainee opts for. In edition, the trainee willbe exposed to several advances fetal Interventional procedures. Courses are for a duration of 1 year (Fellowship in Fetal Uitrasound) and 2 years (Fellowship in Fetal Medicine). ‘The 2 year course in addition to practical training in fetal mecicineis aimed at enhancing the research and academic sills ofthe trainee through data evaluation, publication ofthe same in reputed journals, as well as presentations at conferences regional, national and International. At the end of the 2 year course the ‘trainee will ave obtained the FM, UK certificates of eompetencein the 11-13 weoks NT scan, 18-23 weeks anomaly scan cervical assessment, Fetal echocardiography, Doppler ultrasound and invasive procedures. Notably inthis course the trainee will gin tremendous confidence in taking independent charge of scan urits atthe various centres affliated to BFMC. ‘All rainges graduated from 8FMC have made a mark in big and small cities Besides the Fellowship courses, BEMC also offers an observer course for 2 weeks. This will help the ‘observers update themselves tothe latest knowledge in fetal medicine. Ifyou wish to know more, kindly ¢-mall to secretary@[Link]Issue 2 suey 2016 fetologue rai SOUND TALK WITH THE UNBORN ‘THE FIRST FUP ONSITE CLASS OF 2016 GENETICS FOR ALL NOW AVAILABLE ON FIMA "Ts Open Hout seston conducted Team BFC os th yea covers tee pls on Genes ‘Db semensted wcushacuslease presenatons| Toate these excuse ets celery ractng events inthe elds of eta meen ns Tharan gees 012 ba eta [Link] etary — = =< Om Cenc Fetal Ultrasound Program trainees* (onsite & online) esse) Pe elt aera cur) Ferat MEDICINE ) BANGALORE CENTRE, For appointment at Genes ne ‘angilore Fetal Medicine Cente (BFC) (ate ¥91 9243 75766 24s, 9848894219 Sp) ‘wos setup 2008 with he a of proving fetal ultrasound Inine with intemstional gules and prices. The centre ‘fers s wide range of sericen, bac to hgh advances, | YOUR Redbsek portant to Us erating to fetal Medina, Genctis and Gyreclogesl | Torecommendfetlogue submit nies case studs, SRrosoast Sri ata povtes tang softs Mice, MSM een eee egereea ‘bath onsite and ontine. # eee ‘Onine:Chivelopoinmerts | emod: dmehate@ehs re. 2 tno, MNVOMES, 5/1, Rchmond Ran, angle a= 5COO2S | Te 2X7 aomated: D8STETEOS ecepton Web 972018083, 8413170 Bom ts Gam Mon al) | Lanne 08 2220580 ‘umbangloreletlmedicne com