The Missed Opportunity: When One Missed Scan Changes Everything

The Missed Opportunity: When One Missed Scan Changes Everything

By Dr. Anuradha Narayanan

Consultant Obstetrician & Gynaecologist in Chembur, Mumbai

Every pregnancy is a journey filled with hope. Modern antenatal care has made it possible to detect many fetal abnormalities early, allowing parents to make informed decisions and receive appropriate counselling. Yet, despite living in a metropolitan city with access to quality healthcare, some pregnancies still miss these crucial opportunities.

Recently, I met a patient who had undergone an NT scan in the first trimester but did not attend any further antenatal visits or the recommended anomaly scan (18–22 weeks). She returned only at 30 weeks of pregnancy.

The ultrasound findings were heartbreaking.

The baby had:

• Severe shortening of the long bones (micromelia)

• Bowing of the femur and humerus

• Bell-shaped narrow chest

• Frontal bossing

• Reduced amniotic fluid

These findings were highly suggestive of Thanatophoric Dysplasia, one of the most severe forms of skeletal dysplasia. The baby also had a markedly narrowed chest, making survival after birth extremely unlikely because of underdeveloped lungs.

By this stage of pregnancy, the opportunity for an early diagnosis had already been lost.

Why does the anomaly scan matter?

The 18–22 week anomaly scan is not “just another ultrasound.”

It is the most detailed structural examination performed during pregnancy.

It evaluates:

• Brain

• Spine

• Heart

• Face

• Kidneys

• Abdomen

• Limbs

• Bones

• Placenta

• Amniotic fluid

Many serious abnormalities can be detected during this scan, including:

• Congenital heart defects

• Neural tube defects

• Kidney abnormalities

• Skeletal dysplasias

• Chromosomal soft markers

Early diagnosis allows:

• Further genetic testing if needed

• Referral to fetal medicine specialists

• Counselling regarding prognosis

• Delivery planning

• In some situations, legally permissible options depending on gestational age and local regulations

Missing antenatal visits means missing warning signs

Pregnancy is dynamic.

Each visit has a purpose.

Routine antenatal visits monitor:

• Baby’s growth

• Mother’s blood pressure

• Diabetes screening

• Anaemia

• Fetal movements

• Amniotic fluid

• Developmental milestones

Skipping appointments can delay the diagnosis of conditions that are treatable—or, in some cases, conditions that require important decisions and specialised care.

Living in a city is not enough

One of the most difficult aspects of this case was that the patient lived in an urban area with access to hospitals, ultrasound facilities, specialists, and transportation.

The challenge was not the lack of resources.

It was the absence of regular antenatal follow-up.

Good pregnancy outcomes depend not only on medical facilities but also on timely utilisation of those facilities.

Can skeletal dysplasia always be prevented?

No.

Most severe skeletal dysplasias, including Thanatophoric Dysplasia, occur because of new genetic mutations and are not caused by anything the parents did or did not do.

However, early diagnosis is invaluable.

It enables:

• Accurate counselling

• Genetic evaluation

• Pregnancy planning

• Appropriate neonatal care

• Future pregnancy risk assessment

Essential scans every pregnant woman should never miss

✅ Early pregnancy confirmation scan

✅ NT scan (11–13+6 weeks)

✅ Anomaly scan (18–22 weeks)

✅ Growth scan (28–32 weeks, when indicated)

✅ Doppler scans if recommended

My message to every expecting mother

Pregnancy may feel normal, but not every complication causes symptoms.

A healthy mother does not always guarantee a healthy baby.

Regular antenatal visits and timely ultrasound scans are not optional—they are among the most important investments you can make in your baby’s health.

If your doctor advises a scan, please don’t postpone it. That one appointment may provide information that changes the course of your pregnancy and helps your healthcare team offer the best possible care.

This article is shared for public awareness. Patient confidentiality has been maintained, and identifying details have been omitted or altered. Every pregnancy is unique, and management decisions should always be individualized after consultation with a qualified obstetrician and fetal medicine specialist.