Prenatal suspicion of brain malformation The role of the clinical geneticist
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1 Prenatal suspicion of brain malformation The role of the clinical geneticist Grazia M.S. Mancini Dept of Clinical Genetics
2 When to suspect a GENETIC cause of brain malformation in prenatal setting? >> Hints from: 1. Brain Ultrasound or MRI 2. Other congenital anomalies 3. Result of genetic screening (arrays or NIPT or?) 4. Examination of parents and family history >> Available genetic tests >> Value of prenatal testing >> Value of follow-up
3 Week Central Nervous System Processes Anomalies Time 1.Dorsal Induction Neural Tube Defects 3-7 w. 2.Ventral Induction Holoprosencephaly 5-6 w. 3.Neuronal Glial Proliferation Micro/Megalencephaly 8-16 w. 4.Migration Lissencephaly/ Heterotopia w. 5.Organization Polymicrogyria,/foc.dysplasia >24 w. 6.Myelination Hypo/dysmyelination >24w.-2 yr. Barkovich AJ, et al Brain, 2012
4 1. Hints from US and MRI Indications of MCD Delayed or absent sulcation Premature abnormal sulci Thin, irregular hemispheric parenchyma Wide abnormal overdeveloped gyri Wide opening of isolated sulci Nodular bulging into lateral ventricles Cortical clefts Intraparenchymal echogenic nodules Cortical thickening
5 1. Genetic migration disorders 23.5w About 20 genes linked to lissencephaly, explain 80% Inheritance variable between AD, AR, XL, microdeletion 30w If a migration disorder is supected always consultation by clinical geneticist 1y
6 1. Suspected cortical malformation PID ; G2 P0. SEO: verdenking op coarctatio aortae en midline arachnoidale cyste GUO 25w en 30w: Plompe voorhoornen Twijfel over aspect van fissurae en sulci in parieto-occipitale gebied, lijken onderontwikkeld Arachnoidale cyste midline, mogel. Afw CC Fossa posterior: lijkt een beeld van Blake s pouch. vermis lijkt normaal Day 4 pp 2-3 y Postnatal: no coarctatio, speech and motor delay, epilepsy >> De novo TUBB gene mutation
7 1. Periventricular nodular heterotopia Genetic cause: FLNA, ARFGEF2, ERMARD, NEDDL4, INTS8, FAT4, DCHS, 6q27 del, 17p11.2 del. CAVE: X-linked inheritance, DD TSC and
8 Asymptomatic Prevalence 1/200! Jansen P.R. et al NEJM, October 19, 2017
9
10 Sporadic PNH ID, epilepsy, palatoschizis, temper tantrums, narcolepsy, autism RAI1 mutation: Smith-Magenis syndrome
11 1. Fetal disruption caused by genetic mutation 27w 37w 22w Fam porencephaly (COL4A1/2) Pseudo-TORCH (USP18) Aicardi-Goutieres (IFN1 dis.) Hydranecephaly/HYD (MPDZ) Raine s. (sclerosing osteomalacia+cereb calcif. FAM20C) 32w
12 1. Cerebral Hyperechogenicity of genetic origin
13 2.Hints from Associated Congenital Anomalies Agenesis of corpus callosum and Hallux valgus Medullary cap dysplasia Fibrodysplasia Ossificans progressiva: p.r206h ACVR1 mutation
14 2.Hints from Associated Congenital Anomalies: Ciliopathies Joubert s./ Meckel-Gruber s./ofd s CNS: Cerebellar (inferior) vermis hypoplasia Encephalocele Molar tooth sign Deepened interpeduncolar fossa Dandy-Walker-like malformation Callosal/midline dygenesis Other organs: Renal cysts Polydactyly Thoracic hypoplasia Congenital heart defects Polysplenia Situs inversus, malrotations Heterotaxia
15 3. Hints from results of genetic screening Which genetic tests in pregnancy? Low risk pregnancies First trimester combined test NIPT High risk pregnancies Invasive test: chorion biopsy or amniocenthesis > Genomic Arrays > (rapid Whole Exome Sequencing (WES)) > targeted DNA test
16 2017 MIC+ Dwarfism Utility of WES in non-continuing MCA pregnancies
17 Still many caveats!
18 4. Hint from family history and parent examination PID ; lengte 156 cm, SO 50 cm G2 P1, GUO wegens negatieve discongruentie bij 21w.: Symmetrische IUGR, HC <-2 SD. Invasieve diagnostiek geweigerd Inleiding bij 37w >> Zoon GG 2120g, SO? Bij 6m. SO 4 SD en lengte -3.4 SD. Arrays zoon: deletie Xp22 incl. SHOX gen en duplicatie Xq28 incl. MECP2>> MECP2 duplication syndrome. Moeder draagster van dezelfde afw.
19 Microcephaly: Phenotypic heterogeneity RTTN mutation: Severe phenotype presents prenatally as simplified gyration But Microscopically as cortical malformation
20 4. Hint from family history and parent examination > Recurrence risk
21 >> Value of prenatal testing PID G3P1M1 Dec 2016: PID , Premature birth 33 5/7 w (CS for fetal distress) Congenital artrogryposis, OFC 2 SD MRI day 4: wide ventricles and occipital horns, lissencephaly with hypoplasia of CC, BG, pons, cerebellum, medulla. Subcortical calcifications. EEG: Burst-suppression and respiratory failure Severe optic atrophy and macula dystrophy, with cornea oedema Pulmonary arterial hypertension and heart failure, deceased at day 5. Autopsy: irregular lissencephaly/simplified gyri, extreme hypoplasia of cerebellum, vermis, pons, medulla, enlarged ventricles, loss of WM, areas of cortical calcifications, pachygyria, polymicrogyria, bilateral cornea edema, retina dystrophy, optic atrophy. Arrays normal June 2017 WES: no pathogenic mutation June 2017: mother pregnant again
22 33w
23 Suggestion of Liesbeth Smit, neonatal neurologist Nov 2017 US 20w: normal US 22w: clubfeet US 30w: clubfeet and decreased fetal movements, cerebellar and pons hypoplasia, insufficient cortex gyration 38w induced birth
24 Missed by arrays Diagnosis confirmed by customized Q-PCR No reads Ex 6-16 Ex 1,2,3 Missed by WES
25 >> Value of prenatal testing Thin-lissencephaly, megalencephaly, frontal-predominant pachygyria, ID, seizures, Autosomal Recessive. 2016, AJHG
26
27 CRADD Two male fetuses 1st: 24w delayed cortical sulcation, highly suggestive of lissencephaly TOP 30w: autopsy SGP 2nd: 30w ventriculomegaly and delayed sulcation WES: homozygote frameshift CRADD mutation in both fetuses Healthy father (LD) is homozygote, older sib is homozygote with DD and speech delay
28 Family context Adult Control Father (LD) 37w: simplified gyration 36w Control
29 Conclusions Value of prenatal genetic testing (WES) Advantages: Counseling based on etiology (Timely) additional missing clues relevant to prognosis Anxiety relief Multidisciplinary (evidence based) management policy Disadvantages: Anxiety by uncertain results (e.g. VOUS) No short-term management consequence Genetic mutation as false indicator of prognosis Costs Unnecessary pressure on the laboratory
30 Follow-up Always refer to clin. geneticist in case of abnormal test result TOP: recommend autopsy! Post-natal consultation (with or without diagnosis) Enquire and refer for family planning
31 Prenatal genetic brain malformation: take home message Early diagnosis is difficult Combine information from different sources: e.g. additional anomalies, parental examination, family history Beware of prognostic pitfalls when etiological diagnosis is lacking Brain disruption can be genetic There are no genetic tests which exclude a genetic cause Thank you
32 Thank you
33 Mijn vraag: Is er indicatie voor genetisch onderzoek bij een parenchymale hersenbloeding of asymmetrische ventriculomegalie? Antwoord: ja, bijvoorbeeld het COL4A1/2, een vaak voorkomend risico factor voor pre en postnatale stroke. Take home message: ook disruptieve beelden kunnen op een genetische aanleg berusten.
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