For some pregnancies presenting with a short femur there will be a genetic cause.

For many women, a previous stillbirth may raise questions years later because they were never given a specific reason for it. They may wish to undertake genomic testing to gain closure and move forward with any future pregnancies.

Orofacial clefts include cleft lip and/or palate. Some cases may be detected on ultrasound. Orofacial clefts are common and often occur sporadically, especially if isolated. Other cases may be part of a wider phenotype, and have an underlying genomic cause.

Cystic renal disease, or multicystic dysplastic kidney, is a severe congenital kidney condition in which one or both kidneys develop atypically during embryogenesis. It is a clinically and genetically diverse group of renal conditions.

Aneuploidy is a change in the number of chromosomes. Down syndrome (trisomy 21) is one example of an aneuploidy. Each syndrome has its own distinct collection of clinical features. Some of these can be seen on ultrasound scan.

A congenital diaphragmatic hernia is an anomaly that can be diagnosed via routine ultrasound scan. It can be isolated or part of a wider syndrome with an underlying genetic cause.

Some fetuses with an antenatally detected brain anomaly will have an underlying genetic cause. The chance of an underlying genetic diagnosis varies, depending on the nature and severity of the anomaly as well as the presence of other anomalies.

An isolated congenital anomaly may occur due to an underlying genetic cause. Certain isolated anomalies are more likely to be associated with a genetic cause than others.

Fetal anomaly screening, usually performed at 20 weeks’ gestation, may identify anomalies or combinations of anomalies, which can have an underlying genetic cause.