Aneuploidy
Conditions
Keywords
aneuploidy, Trisomy 21, NIPT
Brief summary
Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the impact and prevalence of NIPT. This will be compared to a control group of pregnant women in those same practices undergoing prenatal testing during the months of January 2010-July 2010.
Detailed description
Information regarding the frequency of non-invasive testing (NIPT), the impact of screening on the need for and frequency of invasive testing, and the indications for testing are important for the clinicians in this country to not only understand the impact that this testing has had but also to plan for allocation of personnel and resources in their prenatal testing units, as well as many other more subtle changes including describing changes to referring clinicians and patients and projecting financial impacts. Information on pregnant women undergoing NIPT at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and compared to a control group of pregnant women in those same practices undergoing invasive prenatal diagnostic testing for fetal karyotype (IDTFK) during the months of January 2010-July 2010. An analysis of the impact of NIPT will be done.
Interventions
OTHERnon-invasive prenatal testing
Noninvasive Prenatal Testing (NIPT) of fetal cell free DNA in maternal circulation
Sponsors
Obstetrix Medical Group
Study design
Observational model
CASE_CONTROL
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 60 Years
Healthy volunteers
Yes
Inclusion criteria
* Pregnant Women * Presented to a participating Obstetrix Outpatient Center for an invasive prenatal diagnostic testing for fetal karyotype (IDTFK) (i.e. amniocentesis or CVS). * Invasive prenatal diagnostic testing for fetal karyotype (IDTFK) (i.e. amniocentesis or CVS) performed between January 2012 and June 2014 (A control group enrolled between January 2010 - July 2010)
Exclusion criteria
* Patient less than 18 years of age * Patients not receiving a invasive prenatal diagnostic testing for fetal karyotype (IDTFK)(i.e. amniocentesis or CVS) at a participating study center * Testing NOT done within the window for inclusion (Jan 2012 - June 2014) or Control Group window (January 2010 - July 2010)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Patient Undergoing IDTFK Before (Control) and After (Test) NIPT Testing Came to Market | 4 years | Total Number of patient undergoing invasive diagnostic testing for fetal karyotype (IDTFK) before (control group = Jan - July 2010) and after (test group=Jan 2012-June 2014) NIPT testing came to market |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of Positive Tests for Abnormal Karyotype Before and After the Adoption of NIPT Testing. | 4 years | Will determine if frequency of positive tests for abnormal karyotypes between the control period and the study period where different. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| IDTFK Group Post NIPT - (January 2012-June 2014) Pregnant women who present to participating centers between January 2012-June 2014, after the release of non-invasive prenatal testing (NIPT), who are undergoing invasive prenatal diagnostic testing for fetal karyotype (IDTFK). | 3,074 |
| IDTFK Group Pre-NIPT (January 2010-July 2010) A control group of pregnant women, prior to the release of non-invasive prenatal testing (NIPT), who present to participating centers between January 2010-June 2010 and are undergoing invasive prenatal diagnostic testing for fetal karyotype (IDTFK). | 1,414 |
| Total | 4,488 |
Baseline characteristics
| Characteristic | IDTFK Group Post NIPT - (January 2012-June 2014) | Total | IDTFK Group Pre-NIPT (January 2010-July 2010) |
|---|---|---|---|
| Age, Categorical <=18 years | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical >=65 years | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical Between 18 and 65 years | 3074 Participants | 4488 Participants | 1414 Participants |
| Indication for and invasive test was a Positive cell free DNA (cfDNA) | 133 Participants | 133 Participants | 0 Participants |
| Indication for an invasive test was multifetal gestation | 76 Participants | 105 Participants | 29 Participants |
| Indication for invasive test was Advance Maternal Age (AMA) | 2071 Participants | 3067 Participants | 996 Participants |
| Indication for invasive test was a Positive Serum Screening Test | 995 Participants | 1494 Participants | 499 Participants |
| Indication for invasive test was Family History of Aneuploidy | 304 Participants | 431 Participants | 127 Participants |
| Indication for invasive test was Ultrasound Abnormality noted | 961 Participants | 1253 Participants | 292 Participants |
| Karyotype Results of Amniocentesis and CVS - Normal Result 45X | 34 indications | 40 indications | 6 indications |
| Karyotype Results of Amniocentesis and CVS - Normal Result 47XXY | 6 indications | 10 indications | 4 indications |
| Karyotype Results of Amniocentesis and CVS - Normal Result Normal karyotype | 2687 indications | 3997 indications | 1310 indications |
| Karyotype Results of Amniocentesis and CVS - Normal Result OTHER | 40 indications | 50 indications | 10 indications |
| Karyotype Results of Amniocentesis and CVS - Normal Result T13 | 24 indications | 29 indications | 5 indications |
| Karyotype Results of Amniocentesis and CVS - Normal Result T18 | 72 indications | 91 indications | 19 indications |
| Karyotype Results of Amniocentesis and CVS - Normal Result T21 | 205 indications | 265 indications | 60 indications |
| Sex: Female, Male Female | 3074 Participants | 4488 Participants | 1414 Participants |
| Sex: Female, Male Male | 0 Participants | 0 Participants | 0 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk |
|---|---|---|
| deaths Total, all-cause mortality | 0 / 0 | 0 / 0 |
| other Total, other adverse events | 0 / 0 | 0 / 0 |
| serious Total, serious adverse events | 0 / 0 | 0 / 0 |
Outcome results
Primary
Number of Patient Undergoing IDTFK Before (Control) and After (Test) NIPT Testing Came to Market
Total Number of patient undergoing invasive diagnostic testing for fetal karyotype (IDTFK) before (control group = Jan - July 2010) and after (test group=Jan 2012-June 2014) NIPT testing came to market
Time frame: 4 years
Population: This was an observational study that looked to compare the number of patient who underwent IDTFK during Jan 2010-July 2010 (prior to the adoption of NIPT) with the number of patients who underwent IDTFK during Jan 2012-June 2014 (after the adoption of NIPT).
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| IDTFK Group Pre-NIPT (January 2010-July 2010) | Number of Patient Undergoing IDTFK Before (Control) and After (Test) NIPT Testing Came to Market | 1414 Participants |
| IDTFK Group Post NIPT - (January 2012-June 2014) | Number of Patient Undergoing IDTFK Before (Control) and After (Test) NIPT Testing Came to Market | 3074 Participants |
Secondary
Frequency of Positive Tests for Abnormal Karyotype Before and After the Adoption of NIPT Testing.
Will determine if frequency of positive tests for abnormal karyotypes between the control period and the study period where different.
Time frame: 4 years
Population: The number of positive tests identified between the control and the test periods.
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| IDTFK Group Pre-NIPT (January 2010-July 2010) | Frequency of Positive Tests for Abnormal Karyotype Before and After the Adoption of NIPT Testing. | 454 Participants |
| IDTFK Group Post NIPT - (January 2012-June 2014) | Frequency of Positive Tests for Abnormal Karyotype Before and After the Adoption of NIPT Testing. | 104 Participants |