Jennifer’s pregnancy had been progressing normally, with early serum screening and anatomy ultrasound results within expected range. At her fetal anatomy ultrasound, new findings emerged: Fetal hydrops and bilateral clubfoot. She was referred to a Maternal Fetal Medicine (MFM) specialist to evaluate these findings and discuss next steps.

Maria had experienced a previous pregnancy with cystic hygroma, prompting a referral to a Maternal Fetal Medicine (MFM) specialist to review her history, current findings, and next steps. At her early fetal anatomy scan, Maria’s pregnancy showed: Cystic hygroma and single umbilical artery. Maria was referred to an MFM.

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Sarah had no specific cardiac symptoms at birth but was diagnosed with a CHD after concerns were first identified via a routine visit to her pediatrician. After a year-long wait for a genetics evaluation, she received a genetic diagnosis.

For Violet, less comprehensive genetic testing was ordered prenatally and in the NICU. Had genome sequencing been ordered first, Violet would likely have received a genetic diagnosis prior to her discharge home.

Sophia’s structural heart defect was identified prenatally. After an admission to the NICU upon birth, ultraRapid genome sequencing was ordered.

When standard testing isn’t enough: finding answers through exome sequencing