Category: Antenatal Anomalies

Trisomy 13 (Patau Syndrome)

24/1/2024

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Investigation: USG FWB
Findings: 19-20 weeks gestation with

Holoprosencephaly
Proboscis
Omphalocele
Microphthalmia & hypotelorism
Post axial polydactyly
Single umbilical artery
Bilateral intracardial echogenic foci

Diagnosed by: Dr Ayush Goel

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Investigation: USG-FWB
Patient came to our centre for the first time at 35 weeks gestation.

Diagnosis: Tricuspid atresia with VSD

Findings show: Small RV, dilated LV, Small pulmonary artery, Inlet VSD and no flow at tricuspid valve.

Diagnosed by: Dr Ayush Goel

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Hypoplastic Right Heart Syndrome

26/3/2021

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Investigation: Ultrasound (Pregnancy) - NT Scan

Diagnosis: Hypoplastic Right Heart Syndrome
Gestation age 12 wk - No flow seen at tricuspid valve with echogenic appearing right veintricle. (The fetus additionally had absent nasal bone and reversed "a" wave in DV)

Follow up from referring doctor - Confirmed the findings on ultrasound at 16 weeks in Chandigarh

Diagnosed by: Dr Ayush Goel

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Aberrant Right Subclavian Artery (ARSA)

8/10/2019

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Patient referred for evaluation of Ventriculomegaly.

Ultrasound showed Aberrant Right Subclavian Artery (ARSA) apart from Ventriculomegaly.
Presence of two soft markers highly increase the risk of Trisomy 21 - in this case appx. 80 times. A karyotype is must in such a case.

Image Courtesy: Dr Ayush Goel

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Absent Nasal Bone

11/7/2017

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Absent Nasal Bone

Routine NB/NT scan shows Absent Nasal Bone in fetus

Image courtesy: Dr Ayush Goel

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Cleft lip (antenatal ultrasound)

15/7/2016

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Classical appearance of Cleft lip seen in a fetus at 22 weeks gestation during anomaly scan.

Image courtesy: Dr Ayush Goel

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