Fetal Genetic Abnormalities and Syndromes

📝 Fetal 1 🧾 Early First Trimester (GS) 2 🧾First Trimester (embryo 6-10w 6d) 3 🧾 First Trimester (11-13w 6d) 4 🧾 Second Trimester 5 🧾 Third Trimester 6 🧾 NT Screening 7 🧾 NT Screening Specific Dopler 8 🧾 Fetal Anomalies Screening / TIFA 9 🧾 TIFA-Specific Fetal Doppler 10 🧾 Doppler Studies 11 🧾 Biophysical Profile / NST 12 🧾 RMT Assessment 📝 Other Findings 1 🧾 Hydrops fetalis or water baby 2 🧾 Conjoined twins 3 🧾 Genetic Abnormalities and Syndromes 4 🧾 Umbilical cord 5 🧾 Placenta 6 🧾 Amniotic fluid 7 🧾 Fetal face 8 🧾 Fetal neck 9 🧾 Central Nervous System 10 🧾 Neural Tube Defects 11 🧾 Cardiac Anomalies 12 🧾 Thorax 13 🧾 Gastrointestinal Abnormalities 14 🧾 Genitourinary Abnormalities 15 🧾 Skeletal Dysplasia 16 🧾 Congenital Infections 17 🧾 Fetal Case Study

Diagnos

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0. GENETIC ABNORMALITIES & SYNDROMES – OVERVIEW

📄 Suspected Genetic Syndrome on Ultrasound

📄 Multiple Congenital Anomalies (MCA)

📄 Isolated Soft Markers

📄 Syndromic vs Non-Syndromic Pattern

1. CHROMOSOMAL ANEUPLOIDY SYNDROMES

📄 Down Syndrome (Trisomy 21)

📄 Edwards Syndrome (Trisomy 18)

📄 Patau Syndrome (Trisomy 13)

📄 Turner Syndrome (45,X)

📄 Klinefelter Syndrome (47,XXY)

📄 Triploidy

2. NT / FIRST-TRIMESTER–ASSOCIATED SYNDROMES

📄 Noonan Syndrome

📄 DiGeorge Syndrome (22q11.2 Deletion)

📄 Smith–Lemli–Opitz Syndrome

📄 Cornelia de Lange Syndrome

📄 Skeletal Dysplasia–Related Syndromes

3. CNS & NEURAL TUBE–RELATED SYNDROMES

📄 Dandy–Walker Syndrome

📄 Arnold–Chiari II (Spina Bifida)

📄 Holoprosencephaly Syndromes

📄 Agenesis of Corpus Callosum (Syndromic)

📄 Lissencephaly–Associated Syndromes

4. CARDIAC SYNDROMES

📄 Holt–Oram Syndrome

📄 Ellis–van Creveld Syndrome

📄 Alagille Syndrome

📄 Ivemark Syndrome (Heterotaxy)

📄 CHARGE Syndrome

5. FACIAL / CRANIOFACIAL SYNDROMES

📄 Pierre Robin Sequence

📄 Treacher Collins Syndrome

📄 Goldenhar Syndrome

📄 Binder Syndrome

6. SKELETAL DYSPLASIA SYNDROMES

📄 Thanatophoric Dysplasia

📄 Achondroplasia

📄 Osteogenesis Imperfecta

📄 Campomelic Dysplasia

📄 Short Rib–Polydactyly Syndrome

7. ABDOMINAL / GI SYNDROMES

📄 Beckwith–Wiedemann Syndrome

📄 VACTERL Association

📄 Meconium Peritonitis (Syndromic)

8. RENAL / GENITOURINARY SYNDROMES

📄 Potter Sequence

📄 Fraser Syndrome

📄 Meckel–Gruber Syndrome

9. MULTISYSTEM / RARE GENETIC SYNDROMES

📄 Bardet–Biedl Syndrome

📄 Joubert Syndrome

📄 Zellweger Syndrome

📄 Russell–Silver Syndrome

📄 Prader–Willi Syndrome (Suspected)

10. TWIN & PLACENTAL SYNDROMES

📄 Twin–Twin Transfusion Syndrome (TTTS)

📄 Twin Anemia–Polycythemia Sequence (TAPS)

📄 TRAP Sequence (Acardiac Twin)

📄 Conjoined Twin Syndrome

11. GENETIC TESTING & COUNSELING

📄 NIPT / cfDNA Screening

📄 Invasive Testing (CVS / Amniocentesis)

📄 Karyotype / Microarray

📄 Whole Exome Sequencing (WES)

📄 Genetic Counseling Recommended

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