Icon Legend

This session is not in your schedule.

This session is in your schedule. Click again to remove it.

Presentation Icons

Additional registration fee required

Faculty have requested this content not be shared outside of the session

CME Credit Offered

Abstract Award

Recording available 2/16-5/2

AIUM Credit

Foundation Awardee

Poster Icons

Abstract Award

Foundation Awardee

Poster Session 4

Category: Genetics

Poster Session 4

(1297) The utility of comprehensive genomic testing in families with stillbirth due to fetal disorders

Thursday, February 12, 2026

3:30 PM - 5:00 PM

Submitting Author and Presenting Author(s)

Yuya Tanaka, MD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan

Coauthor(s)

YK

Yoshifumi Kasuga, MD, PhD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
MY

Mamiko Yamada, MD, PhD

Center for Medical Genetics, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
KS

Koki Shigematsu, MD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
YA

Yushi Abe, MD, PhD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
NI

Naotsugu Ishikawa, MD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
YO

Yasuhiko Ogata, MD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
Keisuke Akita, MD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
YF

Yuka Fukuma, MD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
Junko Tamai, MD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
TO

Toshimitsu Otani, MD, PhD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
MF

Marie Fukutake, MD, PhD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
Satoru Ikenoue, MD, PhD (he/him/his)

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
HS

Hisato Suzuki, MD, PhD

Center for Medical Genetics, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
FM

Fuyuki Miya, MD, PhD

Center for Medical Genetics, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
NI

Noboru Inagaki, MD, PhD

Saint Women’s Clinic
Urawa-ku, Saitama, Japan
KK

Kenjiro Kosaki, MD, PhD

Center for Medical Genetics, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan
MT

Mamoru Tanaka, MD, PhD

Department of Obstetrics and Gynecology, Keio University School of Medicine
Shinjuku-ku, Tokyo, Japan

Objective:
The Initiative on Rare and Undiagnosed Diseases (IRUD) for postnatal children/adults has achieved a high 47% diagnosis rate with next-generation sequencing such as whole exome sequencing (WES). In contrast, prenatal genetic testing for families with stillbirth due to fetal disorders has been mostly limited to G-band karyotyping and microarray analysis, leaving many cases undiagnosed. We aimed to evaluate the utility of comprehensive genomic analysis in fetuses that were electively terminated based on ultrasound findings or resulted in intrauterine fetal death (IUFD).

Study Design:
With Ethics Committee approval, we performed comprehensive genomic analysis (WES plus detailed copy number analysis of exome data) using fetal appendages (e.g., umbilical cord blood, cord, or villi) and parental blood.

Results:
Twenty families (including 4 elective terminations and 16 IUFD cases) were enrolled from June 2023 to July 2025, and molecular diagnoses were obtained in ten families (50%). Four involved chromosomal abnormalities: trisomy 18, trisomy 13, monosomy X, trisomy 22. The remaining six were monogenic disorders: three autosomal dominant (Coffin-Siris syndrome [ARID1A], noncompaction cardiomyopathy [TPM1], and renal coloboma syndrome [PAX2]) and three autosomal recessive (Fukuyama muscular dystrophy/Ciliopathy [FKTN/CEP164], Nephronophthisis [NPHP4] and a likely embryonic lethal disorder [CES5A]). In genetic counseling, recurrence risk was low in cases with chromosomal abnormalities and de novo monogenic disorders, while a 25% risk was explained in autosomal recessive cases, along with options such as prenatal and preimplantation genetic testing.

Conclusion:
Molecular diagnoses were identified in 50% (10/20) of cases involving elective termination based on ultrasound findings or IUFD. Comprehensive genomic analysis is effective for genetic counseling, clarifying recurrence risks in subsequent pregnancies, and offering psychological support to families. It may also contribute to the identification of novel embryonic lethal genes, deepening our understanding of the genetic mechanisms underlying fetal death.