UCSF Center for Maternal-Fetal Precision Medicine

06/12/2025

An example of the value of federally funded medical research: This prenatal diagnosis research, supported by NICHD funding, showed that chromosomal microarray analysis examined chromosomes in finer detail and picked up additional genetic defects compared with traditional karyotyping testing, leading to changes in prenatal diagnostic testing recommendations.



Read SMFM Consult Series #41: https://publications.smfm.org/publications/584-society-for-maternal-fetal-medicine-consult-series-41/

05/27/2025

A clinical study led by highlights the utility of exome sequencing for different types of fetal effusions and discerns patterns in how genetic diseases present in utero. We continue to offer genome sequencing for pregnancies with one or more fetal effusions through ongoing research (hydrops@ucsf.edu). Recent findings are published in AJOG: https://bit.ly/4mulOm2

05/21/2025

SEMINAR: Please join us on 6/12, 8am PDT, when Dr. Evangelia Vlachodimitropoulou from King’s College Hospital, will present “In Utero Transfusions (IUT) Beyond 35 Weeks Gestation in Alpha Major”
REGISTER: https://tinyurl.com/ATM-Jun2025

05/20/2025

Researchers UCSF & Johns Hopkins Medicine have made a breakthrough in treating spinal muscular atrophy (SMA) before birth. Their innovative approach delivers a genetic therapy into the amniotic fluid of pregnant mice, improving motor function in pups with SMA. This promising study opens the door to potentially treating SMA earlier and more effectively in humans. Learn more about their work in this STAT article by Megan Molteni: https://bit.ly/STAT-SMA

Researchers have taken preliminary steps toward treating spinal muscular atrophy in the womb

05/15/2025

Today, May 15, we proudly observe and stand in solidarity with the community. We thank our patients who participated in the prenatal ERT . Their courage and their contributions are humbling. Meet one of these inspiring families: https://bit.ly/3OgxCZD 💜

Some parents-to-be have to face the terrifying news that their unborn child has been diagnosed with a life-threatening genetic disorder.

05/14/2025

Intra-amniotic antisense oligonucleotide (A*O) treatment has been shown to improve phenotypes in preclinical models of Spinal Muscular Atrophy (SMA). This innovative approach suggests the potential for a minimally invasive prenatal therapy for SMA and potentially other early-onset neurological disorders. Discover more about this pioneering research by Beltrán Borges and colleagues from the lab of Dr. Tippi MacKenzie at UCSF, in collaboration with UC Davis and Johns Hopkins Medicine, published in Science Translational Medicine: https://bit.ly/4jV38tL

Antisense oligonucleotides delivered in utero can treat mouse models of SMA and can feasibly be administered to fetal lambs at midgestation.

04/15/2025

April 15 is , and we stand in solidarity with the global community and raise awareness of .

We’re grateful for the support and collaboration of this community, which has made it possible to enroll three IOPD patients in our .

We’re excited about the potential of prenatal enzyme replacement therapy to change the course of this condition — and proud to share the story of the first IOPD family receiving this protocol.

In a first-of-its-kind fetal therapy, Dr. Tippi MacKenzie, a pediatric surgeon at UCSF, began treating Ayla Bashir’s Pompe disease before she was even born. Garvin Thomas reports.

03/19/2025

Attending ? Don’t miss our poster presentations and Learning Lounge on Thursday, March 20, where we’ll share the latest clinical findings and research updates.

We look forward to connecting with you in Los Angeles!

Billie R Lianoglou ACMG - American College of Medical Genetics and Genomics

02/28/2025

Honoring

Today, we recognize the strength of the rare disease community and the incredible work of patient advocates who support families, raise awareness, and drive progress.

We are grateful to the patients and their support groups who are making a difference every day. Your dedication helps move research forward and brings hope to families affected by rare conditions.

We’re proud to work alongside you in advancing care and research, including efforts like the .

🔗 Learn more: https://pearltrial.ucsf.edu

02/04/2025

We’re excited to share interim results from the UCSF at !

This first-in-human Phase 1 trial of In Utero for disorders is an innovative approach to treat severe genetic diseases before birth (PI: Tippi MacKenzie, MD).

📅 Don’t miss Billie Lianoglou's presentation:
🕧 Feb 6, 8:30 AM

Learn about advances in research and the future of prenatal therapies. We hope to see you there!

🔎 Discover more at https://pearltrial.ucsf.edu

01/31/2025

Congratulations to Center Co-Director Dr. Mary Norton on receiving the Society for Maternal Fetal Medicine (SMFM) Lifetime Achievement Award! This prestigious honor recognizes her outstanding leadership, advocacy, scientific contributions, clinical excellence, and dedication to education in maternal-fetal medicine. A well-deserved recognition for a true pioneer in the field.

01/23/2025

Join us at for an opportunity to explore the latest in diagnostics and therapies during our Postgraduate Courses on January 28 and 29.

Featuring UCSF experts: Teresa N. Sparks, Mary Norton, Tippi MacKenzie, Billie Lianoglou, Kate Swanson, and other Center collaborators.

Jan 28 https://ucsf.box.com/s/cds909psrj9dwv90jrymtsztbr3l6zet
Jan 29 https://ucsf.box.com/s/moq1yvk76i1bgugx0a5kdtpxvvs0fuq0

Also on Jan 29, Center Investigator Julia Brown will speak at the Genetics Scientific Forums about equity and ethics in reproductive genetics care.

Jan 29 Scientific Forum https://ucsf.box.com/s/i1217tmam3vvr0blebuf0xmynug6gg1i

We’ll also be sharing insights throughout the conference: https://obgyn.ucsf.edu/maternal-fetal-medicine/ucsf-mfm-division-involvement-2025-annual-smfm-meeting

We hope to connect!