New blood test could replace risky prenatal procedures for genetic diseases

NCT ID NCT06147414

Recruiting now Diagnosis Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

First seen Jan 22, 2026 · Last updated Apr 28, 2026 · Updated 16 times

Summary

This study aims to see if a simple blood test from the mother can accurately diagnose single-gene disorders (like sickle cell disease or cystic fibrosis) in the fetus, starting as early as 9 weeks of pregnancy. The test looks at fetal DNA found in the mother's blood, which avoids the miscarriage risk of traditional invasive tests. Researchers will enroll 550 pregnant women to compare the blood test results with standard diagnostic methods.

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Contacts and locations

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Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••
Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique
RECRUITING

Paris, 75014, France

Contact Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE CYSTIC FIBROSIS CYSTIC FIBROSIS FRAGILE X SYNDROME HEMOPHILIA A HEMOPHILIA B HUNTINGTON DISEASE INVASIVE PRENATAL DIAGNOSIS IN A CONTEXT OF FAMILY HISTORY OF SINGLE-GENE DISORDERS, INCLUDING MODY2 DIABETES MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY, DUCHENNE MYOTONIC DYSTROPHY NEUROFIBROMATOSIS-NOONAN SYNDROME PROXIMAL SPINAL MUSCULAR ATROPHY SICKLE CELL DISEASE X-LINKED HYDROCEPHALUS