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The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.
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Inclusion Criteria:
Exclusion Criteria:
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The investigators anticipate enrolling 1000 subjects who are presenting for prenatal diagnosis by CVS or genetic amniocentesis for increased risk for fetal aneuploidy.
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| Name | Affiliation | Role |
|---|---|---|
| Stephen A Brown, MD | Lenetix, Inc. | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Maryland Perinatal Associates | Recruiting | Rockville | Maryland | 20850 | United States |
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Plasma
| Atlantic Maternal Fetal Medicine | Recruiting | Moristown | New Jersey | 07960 | United States |
|
| Winthrop University Hospital | Recruiting | Mineola | New York | 11501 | United States |
|
| Elite Women's Health | Recruiting | New Hyde Park | New York | 11042 | United States |
|
| Columbia University, NewYork-Presbyterian Hospital | Recruiting | New York | New York | 10022 | United States |
|
| New York Perinatal Associates | Recruiting | New York | New York | 10128 | United States |
|
| UVM | Recruiting | Burlington | Vermont | 05405 | United States |
|
| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| D000073842 | Trisomy 18 Syndrome |
| D000073839 | Trisomy 13 Syndrome |
| D007713 | Klinefelter Syndrome |
| D000013 | Congenital Abnormalities |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D025064 | Sex Chromosome Disorders |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D007006 | Hypogonadism |
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