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Genomics in Healthcare- A case study

NIPT Detects Chromosomal Abnormalities in Pregnancy Classified as Low Risk

Patient information

A young couple visited their obstetrician for the routine check-up during their pregnancy, they were suggested Non-Invasive Prenatal Testing (NIPT) to rule out chromosomal abnormalities in their pregnancy.

Genetic History

Family history was negative. The couple were considered in the low risk category, but they went ahead with NIPT to rule out the population risk.

Genetic testing at MedGenome

Non Invasive Prenatal testing was done at MedGenome.


The NIPT result came as a high risk for Monosomy X. The couple was counselled about the condition, advised diagnostic testing and explained its consequences.

Case Discussion

Monosomy X is characterised by short stature, problems with the heart and kidneys, absence or poor development of sexual characteristics, learning difficulties and sometimes mild intellectual disability. The symptoms range from mild to severe.

There is a small chance of false positives with NIPT. Therefore, and according to guidelines, invasive confirmatory testing was recommended, but due to maternal anxiety, they decided to terminate the pregnancy. The couple decided to test the products of conception by further confirmatory testing.

A chromosomal microarray (CMA) was performed on the fetal tissue sample and it was found out that approximately 30% of the foetal cells had only one X chromosome, confirming the NIPT results. Though it is hard to predict antenatally, even in such a case, the abnormality would have manifested. Since all other tests including the ultrasound scans were normal, the condition could have been missed out, if not for NIPT.

As the couple is at increased risk for having another pregnancy with an abnormality, they were advised to go for genetic testing early in the next pregnancy.

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