Unusual Presentations of Trisomy 21
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Unusual Presentations of Trisomy 21 Purvi Desai1 • Kairavi Desai2 • Kalpana Kathrotiya2 • Keshvi Chauhan3 Binodini Chauhan2
•
Received: 1 July 2020 / Accepted: 8 September 2020 Ó Society of Fetal Medicine 2020
Abstract Trisomy 21 is the most common aneuploidy in liveborn infants. Most of the soft markers for trisomy 21 are non-specific and transient. We present 2 cases which had abnormalities which are very rarely associated with Down’s syndrome. In the first case, the patient had bilateral congenital cataract along with an absent nasal bone. In the second case, the patient had severe asymmetric fetal growth restriction at 20 weeks with other multi-system abnormalities. With detailed ultrasound scanning and thorough investigation, we could diagnose trisomy 21 even with such unusual presentations. Keywords Trisomy 21 Congenital cataract Severe fetal growth restriction Down’s syndrome Aneuploidy Karyotype
Introduction Chromosomal abnormalities occur in 0.1–0.2% of live births and the most common aneuploidy among live born infants is trisomy 21 (Down’s syndrome) [1]. The soft markers associated with trisomy 21 are: 1st Trimester: increased nuchal transluscency, absent/ hypoplastic nasal bone, reduced, absent or reversal of ‘‘a’’ wave in the ductus venosus and tricuspid regurgitation. 2nd Trimester: increased nuchal fold thickness, echogenic intracardiac focus, ventriculomegaly, echogenic bowel, shortened femur and humerus, pyelectasis and an aberrant right subclavian artery (ARSA). We present case reports of two fetuses who had abnormalities which are very rarely associated with Down’s syndrome. Case 1
& Kairavi Desai [email protected] Purvi Desai [email protected] Kalpana Kathrotiya [email protected] Keshvi Chauhan [email protected] Binodini Chauhan [email protected] 1
Department of Radiology, New Civil Hospital Surat, Surat, Gujarat, India
2
Department of Fetal Medicine, New Civil Hospital Surat, Surat, Gujarat, India
3
New Civil Hospital Surat, Surat, Gujarat, India
Mrs XYZ, 28 year old primigravida came at 22 weeks of pregnancy for her routine anomaly scan to the Department of Fetal Medicine, New Civil Hospital, Surat. She did not have any relevant past or family history of any congenital disorder or congenital cataract in family. She had no previous ultrasound scans done. On the anomalies scan we observed: A prominent coronary sinus in the cardiac 4 chamber view, 4 vessels in the 3 vessel view with one vessel on the left of the pulmonary artery suggestive of persistence left SVC, absent nasal bone in the facial profile view (Fig. 1a) and bilateral extremely dense echogenic lenses suggestive of congenital cataracts (Fig. 1b). No other anomaly was detected in the detailed anomaly scan. 2nd trimester ultrasound based risk for trisomy 21 was 1 in 168.
123
J. Fetal Med.
Fig. 1 a Facial profile showing absent nasal bone. b Orbits showing bilateral cataract
Suspecting congenital infection to be the cause of congenital cataract and in view of the incr
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