Bhubaneswar: In a rare and medically significant case, Dr. Rama Manjari Naik, Consultant – Fetal Medicine at Ankura Hospital, Bhubaneswar, diagnosed Edwards Syndrome (Trisomy 18) in the fetus at just 16 weeks of pregnancy, following a detailed early anomaly scan. Edwards’ syndrome is a genetic disorder caused by the presence of a third copy of chromosome 18 in some or all of the body’s cells. “This extra chromosome leads to a variety of physical abnormalities as well as developmental delays. Most babies with Edwards’ syndrome do not survive to birth, and those who are born often die within the first month of life,” explains Dr Rama Manjari Naik.
A 25-year-old first-time mother with no known genetic risk factors was referred to Ankura Hospital for a routine scan. She had undergone a first-trimester double marker screening — a test typically done to assess the risk of chromosomal abnormalities such as Down syndrome and Trisomy 18 — which had shown no abnormalities. However, the early detailed anomaly scan conducted by Dr. Naik revealed concerning features in the developing fetus. “Some features that raised the suspicion of a chromosomal abnormality included small jaw (micrognathia), clubfoot on one side (unilateral talipes), clenched fists, low-set ears, and a cardiac defect (AVSD).” Dr Naik explains.
After thorough counseling, the couple opted for amniocentesis — a confirmatory diagnostic test that involves analyzing a small sample of amniotic fluid to detect chromosomal abnormalities. Amniocentesis confirmed the presence of Trisomy 18, that is, Edwards’ Syndrome, in the fetus.
With the couple’s informed consent, the pregnancy was medically terminated. Post-procedure examination of the fetus aligned with the ultrasound findings, reaffirming the diagnosis.
“This was the first confirmed case of Edwards’ Syndrome I have encountered in the last five years of practice,” said Dr. Naik. “While Trisomy 21 (Down Syndrome) is more commonly detected, Trisomy 18 is much rarer, especially when picked up this early and with such distinct sonographic features.”
The case highlights the importance of early high-resolution anomaly scans and the role of fetal medicine in detecting subtle signs that may be missed during routine screenings. It also emphasizes the need for accessible genetic counseling and testing to support early, accurate diagnoses and informed decision-making for expecting parents.
Ankura Hospital, Bhubaneswar, continues to set benchmarks in maternal and fetal healthcare by combining advanced diagnostic technology with compassionate clinical care. A one-of-its-kind women and child healthcare center in Odisha, Ankura stands as a beacon of hope for families seeking expert, holistic care in a trusted environment.