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.

‍

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.

Despite prenatal and postnatal genetic evaluations, Violet’s journey to a molecular diagnosis took 6 months. If genome sequencing had been ordered initially, Violet could have received a diagnosis prior to her NICU discharge. ^‡

‍

Sophia’s structural heart defect was identified prenatally. After an admission to the NICU upon birth, she received ultraRapid genome sequencing, which returned results in 48 hours to inform immediate surgical decisions. ^‡

‍

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

Turning uncertainty into informed clinical decision-making