Title: Transposition of Great Arteries in a Foetus with Semilobar Holoprosencephaly at 21 Weeks: A Rare Embryological Association Background & Objective: Holoprosencephaly (HPE) is a complex congenital brain malformation resulting from the incomplete cleavage of the prosencephalon. It is frequently associated with midline craniofacial anomalies and congenital heart defects. However, while septal defects are relatively common, the coexistence of Transposition of the Great Arteries (TGA)—a conotruncal anomaly—is exceptionally rare. This case aims to highlight this unique association and underscore the shared embryological pathways underlying both conditions. Case Presentation: A 21-week gestation foetus presented for routine antenatal ultrasonography. Detailed neurosonography revealed features consistent with semilobar holoprosencephaly. Key findings included partial separation of the cerebral hemispheres, a single monoventricular cavity, and fused thalami, alongside characteristic craniofacial abnormalities. Investigations & Findings: Due to the CNS findings, a comprehensive, targeted foetal echocardiogram was performed. The cardiac evaluation demonstrated clear ventriculoarterial discordance. The aorta was visualized arising anteriorly from the morphological right ventricle, while the pulmonary artery emerged from the left ventricle, confirming the diagnosis of Transposition of the Great Arteries (TGA). No other significant extracardiac anomalies were noted. Discussion: The simultaneous occurrence of semilobar HPE and TGA points toward a shared embryological disruption during weeks 3 to 6 of gestation. This dual presentation suggests a systemic defect involving midline patterning, neural crest cell migration, and left-right axis signaling. Disruption in key molecular mechanisms, specifically the Sonic Hedgehog (SHH) and Nodal signaling pathways, likely plays a critical role in both the forebrain malformation and the cardiac outflow tract morphogenesis seen in this foetus. Conclusion: The coexistence of semilobar holoprosencephaly and TGA is a highly rare prenatal finding that emphasizes the absolute necessity of detailed foetal echocardiography whenever a CNS anomaly is detected. Recognizing these rare associations enhances our understanding of developmental biology, improves prenatal diagnostic accuracy, and is crucial for providing comprehensive genetic counselling and prognostic information to expectant parents. Keywords: * Semilobar Holoprosencephaly Transposition of Great Arteries Foetal Echocardiography Sonic Hedgehog (SHH) Pathway Prenatal Diagnosis MAKE PPT TO PRESENT ON THIS RESEARCH ABSTRACT TO PRESENT IN CONFERENCE
semilobar holoprosencephaly fetal brain ultrasound
transposition of great arteries fetal echocardiography diagram
ls -la /home/daytona/workspace/ 2>/dev/null || echo "workspace empty or not found"
mkdir -p /home/daytona/workspace/tga-hpe-ppt && echo "done"
~/tga-hpe-ppt/create_ppt.js
const pptxgen = require("pptxgenjs");
const { execSync } = require("child_process");
// Fetch images as base64
const imageUrls = [
"https://cdn.orris.care/cdss_images/pmc_clinical_VQA_328758c84209fe02e14d25a9ee2ad4d30d0b98c539806266969f840bdfe3f45e.jpg",
"https://cdn.orris.care/cdss_images/pmc_clinical_VQA_a4243b414a051cbc901b65fda182ddbad529561a84e3e0429047f64a3e32409b.jpg",
"https://cdn.orris.care/cdss_images/pmc_clinical_VQA_d366893189b1f50e7f7b16576e23e4362ed16fcd69598c094a46d341a2486cb4.jpg"
];
let images = [];
try {
const result = execSync(
`node /home/daytona/skills/shared/scripts/fetch_images.js ${imageUrls.map(u => `"${u}"`).join(" ")}`,
{ timeout: 30000 }
).toString();
images = JSON.parse(result);
console.log("Images fetched:", images.map(i => i.error ? "ERROR: " + i.error : "OK"));
} catch(e) {
console.log("Image fetch failed:", e.message);
images = imageUrls.map(u => ({ url: u, base64: null, error: e.message }));
}
const pres = new pptxgen();
pres.layout = "LAYOUT_16x9";
pres.author = "Conference Presenter";
pres.title = "Transposition of Great Arteries in a Foetus with Semilobar Holoprosencephaly";
// ── COLOUR PALETTE ──────────────────────────────────────────────────
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const ACCENT2 = "EF476F"; // rose-red (for highlights)
const WHITE = "FFFFFF";
const LIGHT_TXT = "B8D4E8";
const YELLOW = "FFD166";
// ── MASTER background helper ─────────────────────────────────────────
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slide.background = { color };
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}
// ══════════════════════════════════════════════════════════════════════
// SLIDE 1 — TITLE
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["04", "Embryological Basis", "SHH & Nodal signalling — shared pathways"],
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// ══════════════════════════════════════════════════════════════════════
// SLIDE 3 — BACKGROUND: HPE
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{ text: "Failure of complete cleavage of the embryonic prosencephalon\n\n", options: { color: WHITE } },
{ text: "Incidence: ", options: { bold: true, color: YELLOW } },
{ text: "1 in 10,000–20,000 live births\n\n", options: { color: WHITE } },
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{ text: "• Chromosomal: Trisomy 13, 18, del(7)(q36)\n", options: { color: LIGHT_TXT } },
{ text: "• Congenital Heart Defects (CHD): septal defects most common\n", options: { color: LIGHT_TXT } },
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{ label: "SEMILOBAR", color: YELLOW, desc: "Partial separation\nRudimentary falx\n★ THIS CASE" },
{ label: "LOBAR", color: ACCENT, desc: "Near-complete\nseparation\nMidline anomalies" },
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// ══════════════════════════════════════════════════════════════════════
// SLIDE 4 — CASE PRESENTATION
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s.addText("21-Week Foetus — Antenatal Ultrasonography", {
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// Clinical vignette box
s.addShape(pres.ShapeType.rect, { x: 0.5, y: 1.9, w: 9, h: 0.75, fill: { color: MID_BG }, line: { color: ACCENT2, width: 1.5 } });
s.addText("⚕ Routine antenatal ultrasonography at 21 weeks of gestation revealed unexpected intracranial pathology, prompting detailed neurosonography and subsequent targeted foetal echocardiography.", {
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{ icon: "🔲", title: "Single Monoventricular Cavity", body: "Large, central fluid-filled monoventricle identified; absence of normal lateral ventricle separation and cavum septi pellucidi." },
{ icon: "🔬", title: "Fused Thalami", body: "Bilateral thalamic fusion at the midline; loss of the normal echogenic third-ventricular space between them." },
{ icon: "👁️", title: "Craniofacial Anomalies", body: "Characteristic midline facial abnormalities identified, consistent with the known association of HPE with craniofacial defects." },
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// ══════════════════════════════════════════════════════════════════════
// SLIDE 5 — HPE ULTRASOUND IMAGE
// ══════════════════════════════════════════════════════════════════════
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["Absent CSP", "No cavum septi pellucidi — hallmark of HPE"],
["Fused Thalami", "Bilateral thalamic fusion; absent 3rd ventricle"],
["Partial Falx", "Rudimentary posterior falx — distinguishes semilobar from alobar"],
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// ══════════════════════════════════════════════════════════════════════
// SLIDE 6 — FETAL ECHO / TGA FINDINGS
// ══════════════════════════════════════════════════════════════════════
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["Parallel Vessel Sign", "Great arteries run side-by-side rather than crossing — pathognomonic of TGA"],
["Normal 4-Chamber View", "4CV appears unremarkable — emphasising need for outflow tract views"],
["No Other Anomalies", "No significant extracardiac anomalies identified on full survey"],
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// ══════════════════════════════════════════════════════════════════════
// SLIDE 7 — TGA COMPARISON (normal vs TGA)
// ══════════════════════════════════════════════════════════════════════
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fontSize: 20, bold: true, color: WHITE, fontFace: "Calibri"
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x: 0.4, y: 5.35, w: 9.2, h: 0.25, fontSize: 8.5, color: LIGHT_TXT, fontFace: "Calibri", italic: true, align: "center"
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}
// ══════════════════════════════════════════════════════════════════════
// SLIDE 8 — EMBRYOLOGICAL BASIS
// ══════════════════════════════════════════════════════════════════════
{
const s = pres.addSlide();
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accentBar(s, 0, 0.08, YELLOW);
sectionHeader(s, "EMBRYOLOGICAL BASIS");
s.addText("Shared Developmental Disruption", {
x: 0.5, y: 1.25, w: 9, h: 0.5,
fontSize: 22, bold: true, color: WHITE, fontFace: "Calibri"
});
// Timeline strip
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s.addText("CRITICAL WINDOW: Weeks 3–6 of Gestation", {
x: 0.5, y: 1.88, w: 9, h: 0.55, fontSize: 13, bold: true, color: YELLOW, fontFace: "Calibri", align: "center", valign: "middle"
});
// Two columns
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{
color: ACCENT,
title: "Holoprosencephaly",
subtitle: "Forebrain Malformation",
items: [
"Failure of prosencephalon cleavage during neurulation (wk 4–5)",
"Midline patterning defect — SHH pathway central regulator",
"SHH signalling from prechordal plate drives forebrain bifurcation",
"Loss of SHH → HPE spectrum from alobar to microform",
"ZIC2, SIX3, PTCH1 gene mutations documented"
]
},
{
color: ACCENT2,
title: "Transposition of Great Arteries",
subtitle: "Cardiac Outflow Malformation",
items: [
"Neural crest cell (NCC) migration failure during wk 4–6",
"NCCs pattern the conotruncal septum and outflow tract rotation",
"Left-right axis determination: Nodal/Pitx2 pathway disruption",
"Failure of normal 90° counter-clockwise rotation of outflow tract",
"CITED2, NKX2-5, HAND1 gene associations known"
]
}
];
cols.forEach((col, ci) => {
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s.addText(col.title, { x: x + 0.15, y: 2.6, w: 4.1, h: 0.38, fontSize: 14, bold: true, color: col.color, fontFace: "Calibri" });
s.addText(col.subtitle, { x: x + 0.15, y: 2.96, w: 4.1, h: 0.28, fontSize: 10, italic: true, color: LIGHT_TXT, fontFace: "Calibri" });
const textItems = col.items.map((item, idx) => ({
text: item + (idx < col.items.length - 1 ? "\n" : ""),
options: { bullet: { type: "bullet" }, color: LIGHT_TXT, fontSize: 9.5, breakLine: idx < col.items.length - 1 }
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s.addText(textItems, { x: x + 0.2, y: 3.28, w: 3.9, h: 2.0, fontFace: "Calibri", valign: "top" });
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// Common pathway callout
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s.addText("CONVERGENT MECHANISM: SHH + Nodal disruption → simultaneous forebrain & cardiac outflow tract morphogenesis failure", {
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}
// ══════════════════════════════════════════════════════════════════════
// SLIDE 9 — MOLECULAR PATHWAYS
// ══════════════════════════════════════════════════════════════════════
{
const s = pres.addSlide();
addBg(s);
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sectionHeader(s, "MOLECULAR MECHANISMS");
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steps: ["Nodal expressed asymmetrically on left", "Activates Pitx2 in left lateral plate mesoderm", "Establishes heart looping direction", "Regulates outflow tract rotation", "Disruption → L-R defects & TGA"]
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// ══════════════════════════════════════════════════════════════════════
// SLIDE 10 — DISCUSSION
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title: "Exceptional Rarity",
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body: "Standard 4-chamber view is INSUFFICIENT to detect TGA. Outflow tract views (LVOT, RVOT, 3-vessel trachea) are MANDATORY when any CNS anomaly is found. Highlights need for comprehensive fetal echocardiographic protocols."
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// ══════════════════════════════════════════════════════════════════════
// SLIDE 11 — CONCLUSION
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{ icon: "📡", color: ACCENT2, text: "Fetal echocardiography with OUTFLOW TRACT views is MANDATORY whenever any CNS anomaly is detected on ultrasound." },
{ icon: "🧬", color: YELLOW, text: "Shared disruption of SHH and Nodal signalling pathways during wk 3–6 provides a unifying embryological explanation." },
{ icon: "🩺", color: ACCENT, text: "Early, comprehensive diagnosis enables appropriate multidisciplinary management, realistic prognostication, and informed parental counselling." },
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// ══════════════════════════════════════════════════════════════════════
// SLIDE 12 — THANK YOU / Q&A
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