Increased fetal nuchal translucency is associated with chromosomal abnormalities, many fetal defects and genetic syndromes. In the majority of cases a series of antenatal investigations, including fetal karyotyping, detailed scans, fetal echocardiography, as well as genetic testing and infection screening, that can be completed by 20 weeks of gestation would distinguish between the pregnancies destined to result in adverse outcome and those leading to the delivery of infants without major defects.

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These data suggest that at high altitude, all fetal biometry measurements follow a lower trajectory than at sea level. Specific biometry charts should therefore be used for obstetric ultrasound at high altitude.