Shreyasi Sharma is a multiple award-winning Fetal Medicine Specialist, currently working as Senior Consultant, Fetal Medicine at Cloudnine Hospital, Gurgaon. She completed her MD in Obstetrics & Gynaecology from PGIMER, Chandigarh, MBBS from Madras Medical College, Chennai and holds a fellowship in Fetal Medicine. She is Fetal Medicine Foundation (FMF UK) certified for obstetric scanning and fetal interventions. Her areas of interest include screening for preterm labor, fetal growth restriction, Rh-isoimmunisation, diagnostic and therapeutic fetal procedures and clinical genetics.
Body stalk anomaly, with a prevalence of 0.12 in 10,000 births, occurs when abdominal organs develop outside the abdominal cavity while remaining attached to the placenta in the fetus. This article relates to a rare case of Body Stalk anomaly detected in the first trimester of pregnancy. The images presented are characteristic to the anomaly. A postnatal evaluation confirmed the findings and helped in comprehensive counseling of the patient.
Keywords : Body stalk anomaly · Amelia · First trimester diagnosis · 3D ultrasound · Postnatal examination
Body stalk anomaly occurs when abdominal organs develop outside the abdominal cavity while remaining attached to placenta and is usually accompanied with severe kyphoscoliosis, short or absent umbilical cord etc.
2D ultrasound of a 32-year old primigravida who presented at 12 weeks gestation revealed major anterior abdominal wall defect with part of defect extending into celomic cavity (Fig. 1a, b). The umbilical cord was indiscernible on ultrasound. Ultrasound examination further revealed distorted spine, small neural tube defect in lumbosacral region and unilateral lower limb amelia (Fig. 2a, b and Fig. 3).
Post counselling, owing to lethality of body stalk anomaly, the mother opted for pregnancy termination. The diagnosis was confirmed postnatally (Fig. 4).
Conflict of interest The authors declare that they have no conflict of interest.
Informed consent Informed consent was obtained from the patient before performing the ultrasound. Consent has also been taken from her for reporting this case and due care has been taken to maintain anonymity.
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