Prenatal Microarray Follow-Up Study



Status:Completed
Conditions:Women's Studies
Therapuetic Areas:Reproductive
Healthy:No
Age Range:18 - Any
Updated:3/27/2019
Start Date:February 2013
End Date:December 2018

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Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up

The objectives of this multi-center collaborative study are to ascertain the frequency of
specific copy number variants (CNVs) identified prenatally and to evaluate in detail through
continued follow-up of the children the phenotypes associated with CNVs of known or uncertain
clinical significance.

Specifically the aims are as follows:

1. Determine the intellectual function of the children at age 3 years

2. Determine phenotypic characteristics other than intellectual function of the children at
age 3 years

3. Determine the frequency of specific copy number variants discovered during routine
prenatal diagnostic testing

4. Evaluate the educational, counseling and psychosocial implications of microarray testing
as it is introduced as a standard prenatal diagnostic procedure.

Eligibility Criteria for Enrollment into the 3 year Follow-up Cohort

Inclusion Criteria

1. Singleton or multi-fetal pregnancy with a prenatal invasive procedure resulting in a
diagnosis by microarray analysis of a microdeletion/duplication less than 10 Mbs,
either pathogenic or of uncertain significance, which is reported to the patient. This
includes:

- Infants diagnosed during prenatal diagnostic studies performed at the10
pre-specified prenatal diagnostic centers

- Infants diagnosed by analysis of microarrays performed at the collaborating
laboratories

- Infants referred through the Prenatal Microarray Resource Center website

- Children who will be at least 3 years of age by January of 2018, and who had a
prenatally detected CNV <10 Mbs, either pathogenic or of uncertain significance
OR

2. Children whose mothers were enrolled in the initial study (through July 2011) and who
met inclusion criteria for follow-up in that phase, referred to as the "Index cohort".
This includes:

- CNVs of uncertain or known significance, some of which were not reported to the
patient

- Mosaic findings by karyotype and/or microarray alone.

Exclusion Criteria

1. Patient refusal to allow infant follow-up through the age of three

2. Patient not fluent in the English language

3. Patient under the age of 18

4. In surrogate pregnancies, the "rearing parents" are unavailable to give consent.
We found this trial at
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New York, New York 10029
Principal Investigator: Joanne Stone, MD
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116th St and Broadway
New York, New York 10027
(212) 854-1754
Principal Investigator: Ronald Wapner, MD
Phone: 212-305-5191
Columbia University In 1897, the university moved from Forty-ninth Street and Madison Avenue, where it...
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Danville, Pennsylvania 17822
Principal Investigator: Andrew Faucett, MS
Phone: 570-214-4862
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Larchmont, New York 10538
Principal Investigator: Susan Klugman
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Los Angeles, California 90048
Principal Investigator: Lawrence Platt, MD
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Manhasset, New York 11030
Principal Investigator: Nidhi Vohra, MD
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New York, New York 10075
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3451 Walnut St
Philadelphia, Pennsylvania 19104
1 (215) 898-5000
Principal Investigator: Barbara Bernhardt, MS
Phone: 215-662-4740
Univ of Pennsylvania Penn has a long and proud tradition of intellectual rigor and pursuit...
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Rockville, MD
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